Creative Commons Attribution 4.0 International
CC-BY-4.0
https://creativecommons.org/licenses/by/4.0/legalcode
156268
Orphanet classification of rare developmental anomalies during embryogenesis
93890
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93890
Rare developmental defect during embryogenesis
Category
1041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041
Hydrops fetalis
Malformation syndrome
363999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999
Non-immune hydrops fetalis
Clinical subtype
364013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364013
Immune hydrops fetalis
Clinical subtype
93545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93545
Renal or urinary tract malformation
Category
93546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546
Non-syndromic renal or urinary tract malformation
Category
1851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851
Multicystic dysplastic kidney
Morphological anomaly
97363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363
Unilateral multicystic dysplastic kidney
Clinical subtype
97364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364
Bilateral multicystic dysplastic kidney
Clinical subtype
322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322
Exstrophy-epispadias complex
Malformation syndrome
93928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928
Isolated epispadias
Clinical subtype
93929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Cloacal exstrophy
Clinical subtype
93930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930
Bladder exstrophy
Clinical subtype
3033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033
Renal tubular dysgenesis
Malformation syndrome
97367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367
Renal tubular dysgenesis due to twin-twin transfusion
Etiological subtype
97368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368
Drug-related renal tubular dysgenesis
Etiological subtype
97369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369
Renal tubular dysgenesis of genetic origin
Etiological subtype
1309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309
Medullary sponge kidney
Morphological anomaly
2260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260
Oligomeganephronia
Morphological anomaly
237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237
Duplication of urethra
Morphological anomaly
617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617
Congenital primary megaureter
Morphological anomaly
238642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642
Primary megaureter, adult-onset form
Clinical subtype
238646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646
Congenital primary megaureter, obstructed form
Clinical subtype
238650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650
Congenital primary megaureter, refluxing form
Clinical subtype
238654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654
Congenital primary megaureter, nonrefluxing and unobstructed form
Clinical subtype
544578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578
Congenital primary megaureter, refluxing and obstructed form
Clinical subtype
93101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101
Renal hypoplasia
Morphological anomaly
97361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361
Renal hypoplasia, unilateral
Clinical subtype
97362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362
Renal hypoplasia, bilateral
Clinical subtype
93108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108
Renal dysplasia
Morphological anomaly
93172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172
Renal dysplasia, unilateral
Clinical subtype
93173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173
Renal dysplasia, bilateral
Clinical subtype
93109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109
Congenital megacalycosis
Morphological anomaly
93176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176
Unilateral congenital megacalycosis
Clinical subtype
93177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177
Congenital bilateral megacalycosis
Clinical subtype
238637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637
Megacystis-megaureter syndrome
Disease
411709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709
Renal agenesis
Morphological anomaly
1848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848
Renal agenesis, bilateral
Clinical subtype
93100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100
Renal agenesis, unilateral
Clinical subtype
435365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365
Fetal lower urinary tract obstruction
Clinical group
2970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970
Prune belly syndrome
Malformation syndrome
105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105
Atresia of urethra
Morphological anomaly
93110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110
Posterior urethral valve
Morphological anomaly
435372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372
Anterior urethral valve
Morphological anomaly
435743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743
Congenital urachal anomaly
Category
488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488
Urachal cyst
Morphological anomaly
431341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341
Patent urachus
Morphological anomaly
431344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344
Urachal sinus
Morphological anomaly
431347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347
Urachal diverticulum
Morphological anomaly
289365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365
Familial vesicoureteral reflux
Malformation syndrome
652528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528
Non-syndromic supernumerary kidneys
Morphological anomaly
93547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547
Syndromic renal or urinary tract malformation
Category
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Cat-eye syndrome
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
3380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Trisomy 18
Malformation syndrome
887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887
VACTERL/VATER association
Malformation syndrome
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955
Hajdu-Cheney syndrome
Malformation syndrome
971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971
Acrorenal syndrome
Malformation syndrome
1064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Aniridia-renal agenesis-psychomotor retardation syndrome
Malformation syndrome
1133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133
AREDYLD syndrome
Malformation syndrome
1765
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765
Dyschondrosteosis-nephritis syndrome
Malformation syndrome
1834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834
Axial mesodermal dysplasia spectrum
Malformation syndrome
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
1973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973
Faciocardiorenal syndrome
Malformation syndrome
2186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186
Hydrocephalus-blue sclerae-nephropathy syndrome
Malformation syndrome
2237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Malformation syndrome
2241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Malformation syndrome
2256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Malformation syndrome
2669
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669
Nephrosis-deafness-urinary tract-digital malformations syndrome
Malformation syndrome
1475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475
Renal coloboma syndrome
Malformation syndrome
2673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673
Neurofaciodigitorenal syndrome
Malformation syndrome
2697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697
Arthrogryposis-renal dysfunction-cholestasis syndrome
Malformation syndrome
2704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704
Ochoa syndrome
Malformation syndrome
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774
Multicentric carpo-tarsal osteolysis with or without nephropathy
Malformation syndrome
2820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820
Spastic paraplegia-nephritis-deafness syndrome
Clinical syndrome
3109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109
Mayer-Rokitansky-Küster-Hauser syndrome
Malformation syndrome
2578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Clinical subtype
247775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Clinical subtype
798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798
Schinzel-Giedion syndrome
Malformation syndrome
3186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186
Holoprosencephaly-radial heart renal anomalies syndrome
Malformation syndrome
3316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316
Thomas syndrome
Malformation syndrome
3326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326
Thymic-renal-anal-lung dysplasia
Malformation syndrome
3327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327
Thyrocerebrorenal syndrome
Malformation syndrome
3404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404
Ulbright-Hodes syndrome
Malformation syndrome
1192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Malformation syndrome
3411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411
Double uterus-hemivagina-renal agenesis syndrome
Malformation syndrome
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
93111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
217266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266
BNAR syndrome
Malformation syndrome
439897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Malformation syndrome
444069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Malformation syndrome
2111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111
Cystic hamartoma of lung and kidney
Disease
500135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Malformation syndrome
71273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273
Renal nutcracker syndrome
Disease
2838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838
Renal caliceal diverticuli-deafness syndrome
Malformation syndrome
500095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095
Tall stature-intellectual disability-renal anomalies syndrome
Malformation syndrome
508488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488
8q24.3 microdeletion syndrome
Malformation syndrome
592574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574
Menke-Hennekam syndrome
Malformation syndrome
521438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438
Congenital vertebral-cardiac-renal anomalies syndrome
Malformation syndrome
3032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032
NPHP3-related Meckel-like syndrome
Malformation syndrome
597743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Malformation syndrome
656130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130
PBX1-related congenital anomalies of kidney and urinary tract syndrome
Disease
97965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97965
Rare surgical cardiac disease
Category
88991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88991
Rare congenital non-syndromic heart malformation
Category
474347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474347
Rare congenital anomaly of ventricular septum
Clinical group
99094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99094
Laubry-Pezzi syndrome
Morphological anomaly
99092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99092
Interventricular septum aneurysm
Morphological anomaly
99095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99095
Congenital Gerbode defect
Morphological anomaly
2846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846
Congenital pericardium anomaly
Category
99129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99129
Congenital complete agenesis of pericardium
Morphological anomaly
99130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99130
Congenital partial agenesis of pericardium
Morphological anomaly
99131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99131
Pleuro-pericardial cyst
Morphological anomaly
1081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1081
Coronary artery congenital malformation
Category
2041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041
Coronary arterial fistula
Morphological anomaly
95491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95491
Congenital coronary artery aneurysm
Morphological anomaly
541478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541478
Anomalous aortic origin of coronary artery
Clinical group
541443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541443
Anomalous aortic origin of the left coronary artery
Morphological anomaly
541454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541454
Anomalous aortic origin of the right coronary artery
Morphological anomaly
541507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541507
Anomalous origin of coronary artery from the pulmonary artery
Morphological anomaly
542822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542822
Anomaly of the coronary ostia
Clinical group
99087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99087
Coronary ostial stenosis or atresia
Morphological anomaly
99089
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99089
Abnormal number of coronary ostia
Morphological anomaly
99090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99090
Malposition of a coronary ostium
Morphological anomaly
1686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686
Cardiac diverticulum
Morphological anomaly
1461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461
Criss-cross heart
Morphological anomaly
95483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95483
Univentricular cardiopathy
Category
2248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248
Hypoplastic left heart syndrome
Morphological anomaly
1464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464
Univentricular heart
Morphological anomaly
98723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98723
Hypoplastic right heart syndrome
Clinical group
1208
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208
Pulmonary atresia-intact ventricular septum syndrome
Morphological anomaly
439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439
Isolated right ventricular hypoplasia
Morphological anomaly
98716
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98716
Heart position anomaly
Category
450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450
Heterotaxia
Category
1666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666
Dextrocardia
Morphological anomaly
95854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95854
Levocardia
Morphological anomaly
97548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548
Right sided atrial isomerism
Malformation syndrome
101063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063
Situs inversus totalis
Morphological anomaly
157769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769
Situs ambiguus
Morphological anomaly
566862
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566862
Left sided atrial isomerism
Malformation syndrome
95443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95443
Mesocardia
Morphological anomaly
98717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98717
Transposition of the great arteries and conotruncal cardiac anomaly
Category
2445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445
Conotruncal heart malformations
Category
3303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303
Tetralogy of Fallot
Malformation syndrome
3384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384
Truncus arteriosus
Morphological anomaly
982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982
Pulmonary valve agenesis
Clinical group
99048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Malformation syndrome
101206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Malformation syndrome
1138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1138
Abnormal origin of the pulmonary artery
Clinical group
658574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658574
Isolated pulmonary artery sling
Morphological anomaly
99049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99049
Pulmonary artery coming from patent ductus arteriosus
Morphological anomaly
99050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050
Abnormal origin of right or left pulmonary artery from the aorta
Morphological anomaly
1207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1207
Pulmonary atresia with ventricular septal defect
Morphological anomaly
2037
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2037
Congenital aortopulmonary window
Morphological anomaly
3426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426
Double outlet right ventricle
Morphological anomaly
99043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99043
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
Clinical subtype
99045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99045
Double outlet right ventricle with subpulmonary ventricular septal defect
Clinical subtype
99046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99046
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Clinical subtype
423693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423693
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
Clinical subtype
423712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423712
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Clinical subtype
3427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427
Double outlet left ventricle
Morphological anomaly
98718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718
Aortic malformation
Category
3193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193
Supravalvular aortic stenosis
Morphological anomaly
1457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457
Aorta coarctation
Morphological anomaly
1455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1455
Autosomal dominant coarctation of aorta
Clinical subtype
1456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456
Atypical coarctation of aorta
Clinical subtype
2299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299
Aortic arch interruption
Morphological anomaly
3092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092
Fixed subaortic stenosis
Morphological anomaly
99051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051
Discrete fixed membranous subaortic stenosis
Clinical subtype
99052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052
Discrete fibromuscular subaortic stenosis
Clinical subtype
99053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053
Tunnel subaortic stenosis
Clinical subtype
3093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093
Congenital aortic valve stenosis
Morphological anomaly
95448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448
Congenital aortic valve atresia
Clinical subtype
101043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043
Congenital aortic valve dysplasia
Clinical subtype
402075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075
Familial bicuspid aortic valve
Morphological anomaly
542568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568
Quadricuspid aortic valve
Morphological anomaly
98719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719
Pulmonary artery or pulmonary branch anomaly
Category
1208
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208
Pulmonary atresia-intact ventricular septum syndrome
Morphological anomaly
982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982
Pulmonary valve agenesis
Clinical group
99048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Malformation syndrome
101206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Malformation syndrome
980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980
Absence of the pulmonary artery
Morphological anomaly
3189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189
Congenital pulmonary valvar stenosis
Morphological anomaly
3190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190
Subpulmonary stenosis
Clinical subtype
3192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192
Supravalvular pulmonary stenosis
Clinical subtype
99054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054
Valvular pulmonary stenosis
Clinical subtype
1676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676
Idiopathic pulmonary artery dilatation
Disease
99083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083
Pulmonary artery hypoplasia
Morphological anomaly
99084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084
Peripheral pulmonary stenosis
Morphological anomaly
216675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216675
Transposition of the great arteries
Category
860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860
Congenitally uncorrected transposition of the great arteries
Morphological anomaly
99042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042
Congenitally uncorrected transposition of the great arteries with coarctation
Clinical subtype
216718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718
Isolated congenitally uncorrected transposition of the great arteries
Clinical subtype
216729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Clinical subtype
216694
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694
Congenitally corrected transposition of the great arteries
Morphological anomaly
98720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98720
Atrioventricular valve anomaly
Category
2447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2447
Congenital mitral malformation
Category
95464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95464
Congenital mitral valve insufficiency and/or stenosis
Category
741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741
Familial mitral valve prolapse
Morphological anomaly
1205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1205
Mitral atresia
Morphological anomaly
99057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99057
Congenital mitral stenosis
Morphological anomaly
99058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99058
Hypoplasia of the mitral valve annulus
Morphological anomaly
99059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99059
Congenital supravalvular mitral ring
Morphological anomaly
99060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99060
Congenital unguarded mitral orifice
Morphological anomaly
99061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99061
Accessory mitral valve tissue
Morphological anomaly
99062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99062
Mitral valve agenesis
Morphological anomaly
99063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063
Shone complex
Malformation syndrome
101932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101932
Anomaly of the mitral subvalvular apparatus
Morphological anomaly
95465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95465
Cleft mitral valve
Morphological anomaly
95474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95474
Double-orifice mitral valve
Clinical subtype
99064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99064
Straddling and/or overriding mitral valve
Clinical subtype
98721
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98721
Congenital tricuspid malformation
Category
95459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95459
Congenital tricuspid stenosis
Morphological anomaly
95461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95461
Straddling or overriding tricuspid valve
Morphological anomaly
95462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95462
Accessory tricuspid valve tissue
Morphological anomaly
95463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95463
Anomaly of the tricuspid subvalvular apparatus
Category
99055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99055
Congenital anomaly of the tricuspid valve chordae
Morphological anomaly
99056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99056
Parachute tricuspid valve
Morphological anomaly
555874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874
Congenital tricuspid valve dysplasia
Morphological anomaly
1880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880
Ebstein malformation of the tricuspid valve
Morphological anomaly
1209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209
Tricuspid atresia
Morphological anomaly
95457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95457
Tricuspid valve agenesis
Morphological anomaly
98722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98722
Atrioventricular septal defect
Clinical group
1329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1329
Complete atrioventricular septal defect
Morphological anomaly
576227
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227
Complete atrioventricular septal defect without ventricular hypoplasia
Clinical subtype
99067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067
Complete atrioventricular septal defect with ventricular hypoplasia
Clinical subtype
99068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068
Complete atrioventricular septal defect-tetralogy of Fallot
Clinical subtype
1330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330
Partial atrioventricular septal defect
Morphological anomaly
576232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232
Partial atrioventricular septal defect with ventricular hypoplasia
Clinical subtype
576235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235
Partial atrioventricular septal defect without ventricular hypoplasia
Clinical subtype
576242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576242
Intermediate atrioventricular septal defect
Morphological anomaly
555877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877
FLNA-related X-linked myxomatous valvular dysplasia
Morphological anomaly
98724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724
Congenital anomaly of the great arteries
Category
1132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132
Aortic arch defects
Category
99075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075
Encircling double aortic arch
Morphological anomaly
99076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076
Persistent fifth aortic arch
Morphological anomaly
99077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077
Kommerell diverticulum
Morphological anomaly
99078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078
Neuhauser anomaly
Morphological anomaly
99079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079
Cervical aortic arch
Morphological anomaly
99081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081
Right aortic arch
Morphological anomaly
99082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082
Dysphagia lusoria
Morphological anomaly
185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185
Scimitar syndrome
Malformation syndrome
95485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485
Arterial duct anomaly
Category
95486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486
Premature closure of the arterial duct
Morphological anomaly
99072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072
Congenital patent ductus arteriosus aneurysm
Morphological anomaly
466729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729
Familial patent arterial duct
Morphological anomaly
98718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718
Aortic malformation
Category
3193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193
Supravalvular aortic stenosis
Morphological anomaly
1457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457
Aorta coarctation
Morphological anomaly
1455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1455
Autosomal dominant coarctation of aorta
Clinical subtype
1456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456
Atypical coarctation of aorta
Clinical subtype
2299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299
Aortic arch interruption
Morphological anomaly
3092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092
Fixed subaortic stenosis
Morphological anomaly
99051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051
Discrete fixed membranous subaortic stenosis
Clinical subtype
99052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052
Discrete fibromuscular subaortic stenosis
Clinical subtype
99053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053
Tunnel subaortic stenosis
Clinical subtype
3093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093
Congenital aortic valve stenosis
Morphological anomaly
95448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448
Congenital aortic valve atresia
Clinical subtype
101043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043
Congenital aortic valve dysplasia
Clinical subtype
402075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075
Familial bicuspid aortic valve
Morphological anomaly
542568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568
Quadricuspid aortic valve
Morphological anomaly
98719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719
Pulmonary artery or pulmonary branch anomaly
Category
1208
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208
Pulmonary atresia-intact ventricular septum syndrome
Morphological anomaly
982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982
Pulmonary valve agenesis
Clinical group
99048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Malformation syndrome
101206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Malformation syndrome
980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980
Absence of the pulmonary artery
Morphological anomaly
3189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189
Congenital pulmonary valvar stenosis
Morphological anomaly
3190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190
Subpulmonary stenosis
Clinical subtype
3192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192
Supravalvular pulmonary stenosis
Clinical subtype
99054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054
Valvular pulmonary stenosis
Clinical subtype
1676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676
Idiopathic pulmonary artery dilatation
Disease
99083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083
Pulmonary artery hypoplasia
Morphological anomaly
99084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084
Peripheral pulmonary stenosis
Morphological anomaly
98725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725
Ascending aorta anomaly
Category
1054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054
Aneurysm of sinus of Valsalva
Morphological anomaly
3093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093
Congenital aortic valve stenosis
Morphological anomaly
95448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448
Congenital aortic valve atresia
Clinical subtype
101043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043
Congenital aortic valve dysplasia
Clinical subtype
3400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400
Aorto-ventricular tunnel
Morphological anomaly
99070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070
Aorto-right ventricular tunnel
Clinical subtype
99071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071
Aorto-left ventricular tunnel
Clinical subtype
98727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98727
Rare atrial defect and interatrial communication
Category
1478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478
Interatrial communication
Morphological anomaly
99103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103
Atrial septal defect, ostium secundum type
Clinical subtype
99104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99104
Atrial septal defect, coronary sinus type
Clinical subtype
99105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105
Atrial septal defect, sinus venosus type
Clinical subtype
99106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106
Atrial septal defect, ostium primum type
Clinical subtype
1463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1463
Triatrial heart
Clinical group
99098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99098
Cor triatriatum dexter
Morphological anomaly
99099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99099
Cor triatriatum sinister
Morphological anomaly
1677
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677
Familial idiopathic dilatation of the right atrium
Morphological anomaly
95510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95510
Atrial appendage anomaly
Category
99100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99100
Juxtaposition of the atrial appendages
Morphological anomaly
99101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99101
Ectasia of the right atrial appendage
Morphological anomaly
99102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99102
Ectasia of the left atrial appendage
Morphological anomaly
99107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107
Atrial septal aneurysm
Morphological anomaly
568065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065
EPHB4-related lymphatic-related hydrops fetalis
Disease
363189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189
Congenital anomaly of the great veins
Category
3091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091
Congenital systemic veins anomaly
Category
95498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498
Congenital anomaly of superior vena cava
Category
652668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668
Primary superior vena cava aneurysm
Malformation syndrome
99109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
Morphological anomaly
99110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110
Right superior vena cava connecting to left-sided atrium
Morphological anomaly
99111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111
Persistent left superior vena cava connecting to the roof of left-sided atrium
Morphological anomaly
99112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112
Absence of innominate vein
Morphological anomaly
99113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113
Subaortic course of innominate vein
Morphological anomaly
99114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114
Agenesis of the superior vena cava
Morphological anomaly
95499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499
Congenital anomaly of the inferior vena cava
Category
652678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678
Primary inferior vena cava aneurysm
Morphological anomaly
99119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119
Right inferior vena cava connecting to left-sided atrium
Morphological anomaly
99120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120
Persistent eustachian valve
Morphological anomaly
99121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121
Azygos continuation of the inferior vena cava
Morphological anomaly
99122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122
Congenital stenosis of the inferior vena cava
Morphological anomaly
99123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123
Inferior vena cava interruption without azygos continuation
Morphological anomaly
95500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500
Congenital anomaly of the coronary sinus
Category
99117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117
Coronary sinus stenosis
Morphological anomaly
99118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118
Coronary sinus atresia
Morphological anomaly
95507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507
Congenital anomaly of hepatic vein
Morphological anomaly
480531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531
Congenital portosystemic shunt
Morphological anomaly
98729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729
Congenital pulmonary veins anomaly
Category
3090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090
Congenital pulmonary venous return anomaly
Clinical group
99124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124
Congenital partial pulmonary venous return anomaly
Morphological anomaly
99125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125
Congenital total pulmonary venous return anomaly
Morphological anomaly
185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185
Scimitar syndrome
Malformation syndrome
3188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188
Congenital pulmonary veins atresia or stenosis
Clinical group
99126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126
Congenital pulmonary vein atresia
Morphological anomaly
642071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071
Primary pulmonary vein stenosis
Disease
448270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270
Ectopia cordis
Morphological anomaly
1055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055
Congenital left ventricular aneurysm
Malformation syndrome
156532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156532
Rare syndrome with cardiac malformations
Category
488618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618
Transketolase deficiency
Malformation syndrome
467176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Disease
2475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475
White forelock with malformations
Malformation syndrome
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Holt-Oram syndrome
Malformation syndrome
1352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Malformation syndrome
2516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516
Microcephaly-cardiac defect-lung malsegmentation syndrome
Malformation syndrome
2886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886
TARP syndrome
Malformation syndrome
1479
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479
Atrial septal defect-atrioventricular conduction defects syndrome
Malformation syndrome
3316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316
Thomas syndrome
Malformation syndrome
42775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775
PHACE syndrome
Malformation syndrome
69737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737
Bosley-Salih-Alorainy syndrome
Malformation syndrome
75389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Malformation syndrome
137628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628
Cardiac anomalies-heterotaxy syndrome
Malformation syndrome
217026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Malformation syndrome
228190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Malformation syndrome
228410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410
Polyvalvular heart disease syndrome
Malformation syndrome
230851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851
Cardiac-valvular Ehlers-Danlos syndrome
Disease
284247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247
Familial retinal arterial macroaneurysm
Malformation syndrome
369891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Malformation syndrome
371183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371183
Congenital disorder of glycosylation with cardiac malformation as a major feature
Category
709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Peters plus syndrome
Malformation syndrome
2953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Musculocontractural Ehlers-Danlos syndrome
Disease
3474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
CHIME syndrome
Malformation syndrome
79329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329
MGAT2-CDG
Disease
79333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333
COG7-CDG
Disease
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-CDG
Disease
284139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139
Larsen-like syndrome, B3GAT3 type
Malformation syndrome
444077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Malformation syndrome
98733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733
Noonan syndrome and Noonan-related syndrome
Category
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
3071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071
Costello syndrome
Malformation syndrome
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
1340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340
Cardiofaciocutaneous syndrome
Malformation syndrome
2701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701
Noonan syndrome-like disorder with loose anagen hair
Malformation syndrome
363972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Malformation syndrome
638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638
Neurofibromatosis-Noonan syndrome
Malformation syndrome
453499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Malformation syndrome
352665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Etiological subtype
453504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Etiological subtype
3191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191
Subaortic stenosis-short stature syndrome
Malformation syndrome
457193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Malformation syndrome
562569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Malformation syndrome
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
2519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519
Microcephaly-seizures-intellectual disability-heart disease syndrome
Malformation syndrome
521438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438
Congenital vertebral-cardiac-renal anomalies syndrome
Malformation syndrome
496693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Malformation syndrome
508476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Malformation syndrome
508488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488
8q24.3 microdeletion syndrome
Malformation syndrome
508498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Malformation syndrome
1354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354
Heart defects-limb shortening syndrome
Malformation syndrome
580933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933
Lethal brain and heart developmental defects
Malformation syndrome
589435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Malformation syndrome
592570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Malformation syndrome
597743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Malformation syndrome
98038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98038
Cranial malformation
Category
97340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340
Hunter-McAlpine syndrome
Malformation syndrome
2050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050
Cole-Carpenter syndrome
Malformation syndrome
1452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452
Cleidocranial dysplasia
Malformation syndrome
1531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531
Craniosynostosis
Category
139390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390
Non-syndromic craniosynostosis
Clinical group
620096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620096
Non-syndromic unisutural craniosynostosis
Clinical group
620102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102
Non-syndromic unicoronal craniosynostosis
Morphological anomaly
620113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113
Non-syndromic unilambdoid craniosynostosis
Morphological anomaly
620139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139
Non-syndromic unifrontosphenoidal craniosynostosis
Morphological anomaly
620146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146
Non-syndromic unisquamosal craniosynostosis
Morphological anomaly
3366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366
Non-syndromic metopic craniosynostosis
Morphological anomaly
35093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093
Non-syndromic sagittal craniosynostosis
Morphological anomaly
620152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620152
Non-syndromic multisutural craniosynostosis
Clinical group
620158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158
Non-syndromic non-specific multisutural craniosynostosis
Morphological anomaly
620178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178
Non-syndromic bilambdoid craniosynostosis
Morphological anomaly
620186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186
Non-syndromic unicoronal and sagittal craniosynostosis
Morphological anomaly
620192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192
Non-syndromic metopic and sagittal craniosynostosis
Morphological anomaly
620198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198
Non-syndromic bicoronal and metopic craniosynostosis
Morphological anomaly
620205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205
Non-syndromic bicoronal and sagittal craniosynostosis
Morphological anomaly
620212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212
Non-syndromic pansynostosis
Morphological anomaly
35099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099
Non-syndromic bicoronal craniosynostosis
Morphological anomaly
1516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516
Non-syndromic bilambdoid and sagittal craniosynostosis
Malformation syndrome
139393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393
Syndromic craniosynostosis
Category
207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207
Crouzon syndrome
Malformation syndrome
1308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308
C syndrome
Malformation syndrome
87
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87
Apert syndrome
Malformation syndrome
83
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83
Antley-Bixler syndrome
Malformation syndrome
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
596008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Clinical subtype
1225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225
Baller-Gerold syndrome
Malformation syndrome
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
1527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527
Craniosynostosis, Philadelphia type
Malformation syndrome
1528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528
Craniotelencephalic dysplasia
Malformation syndrome
1540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540
Jackson-Weiss syndrome
Malformation syndrome
1553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553
Curry-Jones syndrome
Malformation syndrome
1555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Malformation syndrome
2145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145
Craniosynostosis, Herrmann-Opitz type
Malformation syndrome
2163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163
Holoprosencephaly-craniosynostosis syndrome
Malformation syndrome
2409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409
Lowry-MacLean syndrome
Malformation syndrome
2462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462
Shprintzen-Goldberg syndrome
Malformation syndrome
2872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872
Cardiocranial syndrome, Pfeiffer type
Malformation syndrome
3134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134
SCARF syndrome
Malformation syndrome
313855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855
FGFR2-related bent bone dysplasia
Disease
3365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365
Trigonocephaly-broad thumbs syndrome
Malformation syndrome
3369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369
Trigonocephaly-short stature-developmental delay syndrome
Malformation syndrome
2898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898
X-linked intellectual disability-plagiocephaly syndrome
Malformation syndrome
1541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541
Craniosynostosis, Boston type
Malformation syndrome
1524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524
Craniomicromelic syndrome
Malformation syndrome
52054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054
Craniosynostosis-intracranial calcifications syndrome
Malformation syndrome
53271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271
Muenke syndrome
Malformation syndrome
247651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651
Infantile hypophosphatasia
Clinical subtype
85199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199
Craniosynostosis-anal anomalies-porokeratosis syndrome
Malformation syndrome
93262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262
Crouzon syndrome-acanthosis nigricans syndrome
Malformation syndrome
93267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267
Cloverleaf skull-multiple congenital anomalies syndrome
Malformation syndrome
247638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638
Prenatal benign hypophosphatasia
Clinical subtype
100978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Malformation syndrome
169163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163
Familial scaphocephaly syndrome
Category
1538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Malformation syndrome
168624
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624
Familial scaphocephaly syndrome, McGillivray type
Malformation syndrome
171839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Malformation syndrome
178377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377
Osteosclerosis-developmental delay-craniosynostosis syndrome
Malformation syndrome
221054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054
Acrocephalopolydactyly
Malformation syndrome
284149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149
Craniosynostosis-dental anomalies
Malformation syndrome
293925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925
Lethal occipital encephalocele-skeletal dysplasia syndrome
Malformation syndrome
247667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667
Childhood-onset hypophosphatasia
Clinical subtype
293843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843
3MC syndrome
Malformation syndrome
3210
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3210
Summitt syndrome
Malformation syndrome
79213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213
Mucopolysaccharidosis
Category
583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
Mucopolysaccharidosis type 6
Disease
276212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, rapidly progressing
Clinical subtype
276223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
Mucopolysaccharidosis type 6, slowly progressing
Clinical subtype
584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Mucopolysaccharidosis type 7
Disease
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
Mucopolysaccharidosis type 1
Disease
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
93474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Scheie syndrome
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Mucopolysaccharidosis type 4
Disease
309310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310
Mucopolysaccharidosis type 4B
Clinical subtype
309297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297
Mucopolysaccharidosis type 4A
Clinical subtype
67041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Hyaluronidase deficiency
Disease
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
2645
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645
Osteoglosphonic dysplasia
Malformation syndrome
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
3270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Radioulnar synostosis-developmental delay-hypotonia syndrome
Malformation syndrome
369837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Malformation syndrome
1520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Craniofrontonasal dysplasia
Malformation syndrome
65759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759
Carpenter syndrome
Malformation syndrome
65798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65798
Goodman syndrome
Malformation syndrome
2655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655
Thanatophoric dysplasia
Disease
1860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860
Thanatophoric dysplasia type 1
Clinical subtype
93274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274
Thanatophoric dysplasia type 2
Clinical subtype
763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763
Pycnodysostosis
Disease
1465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
Coffin-Siris syndrome
Malformation syndrome
36
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Acrocallosal syndrome
Malformation syndrome
235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Dubowitz syndrome
Malformation syndrome
647681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681
Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Malformation syndrome
565858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Malformation syndrome
2332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332
KBG syndrome
Malformation syndrome
96169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169
Koolen-De Vries syndrome
Malformation syndrome
363958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958
17q21.31 microdeletion syndrome
Etiological subtype
363965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965
Koolen-De Vries syndrome due to a point mutation
Etiological subtype
97297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297
Bohring-Opitz syndrome
Malformation syndrome
1906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906
Fetal valproate spectrum disorder
Malformation syndrome
710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710
Pfeiffer syndrome
Malformation syndrome
93258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258
Pfeiffer syndrome type 1
Clinical subtype
93259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259
Pfeiffer syndrome type 2
Clinical subtype
93260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260
Pfeiffer syndrome type 3
Clinical subtype
794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794
Saethre-Chotzen syndrome
Malformation syndrome
945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945
Acalvaria
Malformation syndrome
1513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513
Craniodiaphyseal dysplasia
Malformation syndrome
1790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790
Hypomandibular faciocranial dysostosis
Malformation syndrome
3034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034
Delayed membranous cranial ossification
Malformation syndrome
60015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015
Enlarged parietal foramina
Malformation syndrome
77296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296
Morgagni-Stewart-Morel syndrome
Malformation syndrome
251290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290
Parietal foramina with clavicular hypoplasia
Malformation syndrome
1114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114
Aplasia cutis congenita
Malformation syndrome
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
1522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522
Craniometaphyseal dysplasia
Malformation syndrome
1826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826
Frontometaphyseal dysplasia
Disease
2780
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780
Osteopathia striata-cranial sclerosis syndrome
Malformation syndrome
2763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763
Osteocraniostenosis
Malformation syndrome
98039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98039
Digestive tract malformation
Category
88993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88993
Esophageal malformation
Category
108959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108959
Non-syndromic esophageal malformation
Category
1199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199
Esophageal atresia
Morphological anomaly
91357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91357
Duplication of the esophagus
Clinical group
100047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100047
Esophageal duplication cyst
Morphological anomaly
100048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100048
Tubular duplication of the esophagus
Morphological anomaly
91358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91358
Congenital esophageal diverticulum
Morphological anomaly
645749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645749
Congenital esophageal stenosis
Morphological anomaly
2004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004
Laryngotracheoesophageal cleft
Morphological anomaly
93938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938
Laryngotracheoesophageal cleft type 1
Clinical subtype
93939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939
Laryngotracheoesophageal cleft type 2
Clinical subtype
93940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940
Laryngotracheoesophageal cleft type 3
Clinical subtype
93941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941
Laryngotracheoesophageal cleft type 4
Clinical subtype
280205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205
Laryngotracheoesophageal cleft type 0
Clinical subtype
454750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750
Isolated tracheoesophageal fistula
Morphological anomaly
108961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108961
Syndromic esophageal malformation
Category
887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887
VACTERL/VATER association
Malformation syndrome
869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869
Triple A syndrome
Disease
929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929
Achalasia-microcephaly syndrome
Malformation syndrome
1305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Feingold syndrome
Malformation syndrome
391641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641
Feingold syndrome type 1
Clinical subtype
391646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646
Feingold syndrome type 2
Clinical subtype
77298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298
Anophthalmia/microphthalmia-esophageal atresia syndrome
Malformation syndrome
514352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514352
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Malformation syndrome
96346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96346
Anorectal malformation
Category
557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557
Non-syndromic anorectal malformation
Clinical group
600952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600952
Non-syndromic anorectal malformation with perineal fistula
Morphological anomaly
600961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600961
Non-syndromic anorectal malformation with rectourethral fistula
Morphological anomaly
600966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600966
Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
Clinical subtype
600975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600975
Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
Clinical subtype
600984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600984
Non-syndromic anorectal malformation with rectovesical fistula
Morphological anomaly
600993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600993
Non-syndromic anorectal malformation with vestibular fistula
Morphological anomaly
600998
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600998
Non-syndromic cloacal malformation
Morphological anomaly
601002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601002
Non-syndromic anorectal malformation without fistula
Morphological anomaly
601008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601008
Non-syndromic anorectal malformation with anal stenosis
Morphological anomaly
601013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601013
Non-syndromic anorectal malformation with pouch colon
Morphological anomaly
601018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601018
Non-syndromic anorectal malformation with rectal atresia
Morphological anomaly
601023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601023
Non-syndromic anorectal malformation with rectal stenosis
Morphological anomaly
601028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601028
Non-syndromic anorectal malformation with rectovaginal fistula
Morphological anomaly
601033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601033
Non-syndromic anorectal malformation with H-type fistula
Morphological anomaly
117573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117573
Syndromic anorectal malformation
Category
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Cat-eye syndrome
Malformation syndrome
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
3380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Trisomy 18
Malformation syndrome
884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884
Tetrasomy 12p
Malformation syndrome
887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887
VACTERL/VATER association
Malformation syndrome
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
1552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552
Currarino syndrome
Malformation syndrome
1590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590
Distal deletion 13q
Malformation syndrome
1225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225
Baller-Gerold syndrome
Malformation syndrome
1381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Malformation syndrome
1436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436
X-linked skeletal dysplasia-intellectual disability syndrome
Malformation syndrome
1756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756
Caudal duplication
Malformation syndrome
1834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834
Axial mesodermal dysplasia spectrum
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
2322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322
Kabuki syndrome
Malformation syndrome
2408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408
Lowe-Kohn-Cohen syndrome
Malformation syndrome
2556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556
Microphthalmia with linear skin defects syndrome
Malformation syndrome
2578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Clinical subtype
2973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973
46,XX difference of sex development-anorectal anomalies syndrome
Malformation syndrome
3138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138
Ulnar-mammary syndrome
Malformation syndrome
3412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412
VACTERL with hydrocephalus
Malformation syndrome
2745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745
Opitz GBBB syndrome
Malformation syndrome
782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Axenfeld-Rieger syndrome
Malformation syndrome
75857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857
6q terminal deletion syndrome
Malformation syndrome
83628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628
LUMBAR syndrome
Malformation syndrome
93271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271
Short rib-polydactyly syndrome, Verma-Naumoff type
Malformation syndrome
93293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293
Okihiro syndrome
Malformation syndrome
261638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638
Okihiro syndrome due to 20q13 microdeletion
Etiological subtype
261647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647
Okihiro syndrome due to a point mutation
Etiological subtype
93929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Cloacal exstrophy
Clinical subtype
96176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176
Ring chromosome 13 syndrome
Malformation syndrome
96185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185
Maternal uniparental disomy of chromosome 16
Malformation syndrome
140952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Malformation syndrome
217266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266
BNAR syndrome
Malformation syndrome
444941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941
Caudal regression-sirenomelia spectrum
Clinical group
3169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169
Sirenomelia
Malformation syndrome
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
1768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768
Familial caudal dysgenesis
Malformation syndrome
496751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751
EVEN-plus syndrome
Malformation syndrome
93932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932
FG syndrome type 1
Disease
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
2345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345
Isolated Klippel-Feil syndrome
Malformation syndrome
611201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201
Oculogastrointestinal-neurodevelopmental syndrome
Malformation syndrome
1305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Feingold syndrome
Malformation syndrome
391641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641
Feingold syndrome type 1
Clinical subtype
391646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646
Feingold syndrome type 2
Clinical subtype
93270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270
Short rib-polydactyly syndrome, Saldino-Noonan type
Malformation syndrome
97944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97944
Gastroduodenal malformation
Category
108963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108963
Non-syndromic gastroduodenal malformation
Category
1203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203
Duodenal atresia
Morphological anomaly
199293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293
Congenital microgastria
Morphological anomaly
108965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108965
Syndromic gastroduodenal malformation
Category
1305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Feingold syndrome
Malformation syndrome
391641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641
Feingold syndrome type 1
Clinical subtype
391646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646
Feingold syndrome type 2
Clinical subtype
2538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538
Microgastria-limb reduction defect syndrome
Malformation syndrome
97945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97945
Intestinal malformation
Category
108967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967
Non-syndromic intestinal malformation
Category
2300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300
Multiple intestinal atresia
Morphological anomaly
2301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301
Congenital short bowel syndrome
Morphological anomaly
1201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201
Small bowel atresia
Morphological anomaly
1198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198
Colonic atresia
Morphological anomaly
238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238
Digestive duplication
Morphological anomaly
508410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410
Familial intestinal malrotation
Morphological anomaly
1203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203
Duodenal atresia
Morphological anomaly
108969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969
Syndromic intestinal malformation
Category
557866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557866
Rare disorder with Hirschsprung disease as a major feature
Category
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
66629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629
Goldberg-Shprintzen megacolon syndrome
Malformation syndrome
99803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803
Haddad syndrome
Malformation syndrome
163746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Disease
897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897
Waardenburg-Shah syndrome
Disease
2150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150
Hirschsprung disease-type D brachydactyly syndrome
Malformation syndrome
2152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152
Mowat-Wilson syndrome
Malformation syndrome
261537
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537
Mowat-Wilson syndrome due to monosomy 2q22
Etiological subtype
261552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552
Mowat-Wilson syndrome due to a ZEB2 point mutation
Etiological subtype
2153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Malformation syndrome
2155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155
Hirschsprung disease-deafness-polydactyly syndrome
Malformation syndrome
2464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464
Marfanoid syndrome, De Silva type
Malformation syndrome
1759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759
Thoraco-abdominal enteric duplication
Malformation syndrome
3405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405
Umbilical cord ulceration-intestinal atresia syndrome
Malformation syndrome
293864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Malformation syndrome
436252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252
Combined immunodeficiency-enteropathy spectrum
Disease
527468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468
Diaphragmatic hernia-short bowel-asplenia syndrome
Malformation syndrome
506307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307
Stromme syndrome
Malformation syndrome
171220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220
Rectal duplication
Morphological anomaly
98041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98041
Visceral malformation of the liver, biliary tract, pancreas or spleen
Category
108971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108971
Non-syndromic visceral malformation
Category
2040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040
Congenital respiratory-biliary fistula
Morphological anomaly
2805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805
Partial pancreatic agenesis
Morphological anomaly
675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675
Annular pancreas
Morphological anomaly
674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674
Accessory pancreas
Morphological anomaly
30391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391
Isolated biliary atresia
Morphological anomaly
53035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035
Caroli disease
Malformation syndrome
101351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351
Familial isolated congenital asplenia
Morphological anomaly
457083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083
Isolated splenogonadal fusion
Morphological anomaly
157769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769
Situs ambiguus
Morphological anomaly
101063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063
Situs inversus totalis
Morphological anomaly
108973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108973
Syndromic visceral malformation
Category
294415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415
Renal-hepatic-pancreatic dysplasia
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
2063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063
Splenogonadal fusion-limb defects-micrognathia syndrome
Malformation syndrome
244283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283
Biliary atresia with splenic malformation syndrome
Malformation syndrome
293864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Malformation syndrome
97548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548
Right sided atrial isomerism
Malformation syndrome
527468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468
Diaphragmatic hernia-short bowel-asplenia syndrome
Malformation syndrome
556955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955
Pancreatic agenesis-holoprosencephaly syndrome
Disease
98043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98043
Diaphragmatic or abdominal wall malformation
Category
108977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108977
Non-syndromic diaphragmatic or abdominal wall malformation
Category
2140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140
Congenital diaphragmatic hernia
Morphological anomaly
660
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660
Omphalocele
Morphological anomaly
322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322
Exstrophy-epispadias complex
Malformation syndrome
93928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928
Isolated epispadias
Clinical subtype
93929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Cloacal exstrophy
Clinical subtype
93930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930
Bladder exstrophy
Clinical subtype
2368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368
Gastroschisis
Morphological anomaly
490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=490
Omphalomesenteric cyst
Morphological anomaly
108979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108979
Syndromic diaphragmatic or abdominal wall malformation
Category
496693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Malformation syndrome
280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280
Wolf-Hirschhorn syndrome
Malformation syndrome
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
3380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Trisomy 18
Malformation syndrome
884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884
Tetrasomy 12p
Malformation syndrome
287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287
Classical Ehlers-Danlos syndrome
Disease
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
1335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335
Pentalogy of Cantrell
Malformation syndrome
2059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059
Fryns syndrome
Malformation syndrome
2141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141
Diaphragmatic defect-limb deficiency-skull defect syndrome
Malformation syndrome
2143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143
Donnai-Barrow syndrome
Malformation syndrome
2322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322
Kabuki syndrome
Malformation syndrome
2369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369
Limb body wall complex
Malformation syndrome
2470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Matthew-Wood syndrome
Malformation syndrome
2736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736
Lethal omphalocele-cleft palate syndrome
Malformation syndrome
2847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847
Pericardial and diaphragmatic defect
Malformation syndrome
3164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164
Omphalocele syndrome, Shprintzen-Goldberg type
Malformation syndrome
209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209
Cutis laxa
Clinical group
2078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078
Geroderma osteodysplastica
Malformation syndrome
2962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962
De Barsy syndrome
Disease
35664
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664
ALDH18A1-related De Barsy syndrome
Etiological subtype
293633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633
PYCR1-related De Barsy syndrome
Etiological subtype
3134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134
SCARF syndrome
Malformation syndrome
3342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342
Arterial tortuosity syndrome
Malformation syndrome
198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198
Occipital horn syndrome
Disease
90348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348
Autosomal dominant cutis laxa
Disease
90349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349
Autosomal recessive cutis laxa type 1
Disease
90350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350
Autosomal recessive cutis laxa type 2
Clinical group
357058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058
Autosomal recessive cutis laxa type 2A
Disease
2834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Wrinkly skin syndrome
Clinical subtype
357074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074
Autosomal recessive cutis laxa type 2, classic type
Clinical subtype
357064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064
Autosomal recessive cutis laxa type 2B
Disease
217335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335
RIN2 syndrome
Malformation syndrome
221145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Malformation syndrome
363705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705
Craniofaciofrontodigital syndrome
Disease
314718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Disease
96170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170
Emanuel syndrome
Malformation syndrome
230839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839
Classical-like Ehlers-Danlos syndrome type 1
Disease
280403
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403
Familial omphalocele syndrome with facial dysmorphism
Malformation syndrome
314432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432
Spigelian hernia-cryptorchidism syndrome
Malformation syndrome
480528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528
Lethal hydranencephaly-diaphragmatic hernia syndrome
Malformation syndrome
527468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468
Diaphragmatic hernia-short bowel-asplenia syndrome
Malformation syndrome
98044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98044
Central nervous system malformation
Category
108989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108989
Non-syndromic central nervous system malformation
Category
2185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185
Congenital hydrocephalus
Malformation syndrome
269505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505
Congenital communicating hydrocephalus
Clinical subtype
269510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510
Congenital non-communicating hydrocephalus
Clinical subtype
3388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388
Neural tube defect
Category
268357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357
Neural tube closure defect
Category
823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823
Spina bifida and other spinal dysraphisms
Category
268369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369
Open spinal dysraphism
Clinical group
645270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270
Open spinal dysraphism with a posterior meningocele
Clinical group
645378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378
Myelic limited dorsal malformation
Morphological anomaly
93969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969
Open spinal dysraphism with a myelomeningocele
Morphological anomaly
645383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383
True myelomeningocele
Clinical subtype
645388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388
Hemi-myelomeningocele
Clinical subtype
645398
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645398
Myeloschisis
Morphological anomaly
645401
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645401
True myeloschisis
Clinical subtype
645393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645393
Hemi-myeloschisis
Clinical subtype
268744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744
Spinal dysraphism with a posterior meningocele
Clinical group
268810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810
Isolated posterior meningocele
Morphological anomaly
268813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813
Myelocystocele
Clinical group
645337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337
Terminal myelocystocele
Morphological anomaly
645340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340
Non-terminal myelocystocele
Morphological anomaly
645319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319
Saccular spinal dysraphism with a stalk to the dome
Clinical group
645354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354
Saccular limited dorsal myeloschisis
Morphological anomaly
645378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378
Myelic limited dorsal malformation
Morphological anomaly
645337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337
Terminal myelocystocele
Morphological anomaly
645270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270
Open spinal dysraphism with a posterior meningocele
Clinical group
645378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378
Myelic limited dorsal malformation
Morphological anomaly
93969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969
Open spinal dysraphism with a myelomeningocele
Morphological anomaly
645383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383
True myelomeningocele
Clinical subtype
645388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388
Hemi-myelomeningocele
Clinical subtype
645202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645202
Closed spinal dysraphism
Clinical group
573278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278
Split cord malformation
Clinical group
573253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253
Split cord malformation type II
Morphological anomaly
1671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671
Split cord malformation type I
Morphological anomaly
633076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076
Split cord malformation, composite type
Morphological anomaly
268810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810
Isolated posterior meningocele
Morphological anomaly
268813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813
Myelocystocele
Clinical group
645337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337
Terminal myelocystocele
Morphological anomaly
645340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340
Non-terminal myelocystocele
Morphological anomaly
656126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126
Segmental spinal dysgenesis
Disease
645273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273
Dysraphic spinal cord lipoma
Clinical group
645362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362
Dorsal spinal cord lipoma
Morphological anomaly
645367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367
Conus spinal cord lipoma
Clinical group
645285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285
Chaotic conus spinal cord lipoma
Morphological anomaly
645297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297
Extramedullary conus spinal cord lipoma
Morphological anomaly
645291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291
Transitional extramedullary conus spinal cord lipoma
Clinical subtype
645288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288
Terminal extramedullary conus spinal cord lipoma
Clinical subtype
645294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294
Posterior extramedullary conus spinal cord lipoma
Clinical subtype
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
645193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645193
Dysraphism with stalk
Clinical group
645334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334
Retained medullary cord
Morphological anomaly
645188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645188
Spinal dermal sinus
Morphological anomaly
645196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645196
Limited dorsal myeloschisis
Clinical group
645343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645343
Non-saccular limited dorsal myeloschisis
Morphological anomaly
645310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645310
Fibroneural non-saccular limited dorsal myeloschisis
Histopathological subtype
645300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645300
Lipomatous non-saccular limited dorsal myeloschisis
Histopathological subtype
645319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319
Saccular spinal dysraphism with a stalk to the dome
Clinical group
645354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354
Saccular limited dorsal myeloschisis
Morphological anomaly
645378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378
Myelic limited dorsal malformation
Morphological anomaly
645337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337
Terminal myelocystocele
Morphological anomaly
645282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645282
Anomaly of the filum
Clinical group
645279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645279
Fibrolipomatous filum anomaly
Clinical group
645325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645325
Isolated filum lipoma
Morphological anomaly
645322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645322
Isolated transitional filum lipoma
Morphological anomaly
645334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334
Retained medullary cord
Morphological anomaly
645276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645276
Spinal cord lipoma
Clinical group
645359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645359
Intramedullary non-dysraphic spinal cord lipoma
Morphological anomaly
645273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273
Dysraphic spinal cord lipoma
Clinical group
645362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362
Dorsal spinal cord lipoma
Morphological anomaly
645367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367
Conus spinal cord lipoma
Clinical group
645285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285
Chaotic conus spinal cord lipoma
Morphological anomaly
645297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297
Extramedullary conus spinal cord lipoma
Morphological anomaly
645291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291
Transitional extramedullary conus spinal cord lipoma
Clinical subtype
645288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288
Terminal extramedullary conus spinal cord lipoma
Clinical subtype
645294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294
Posterior extramedullary conus spinal cord lipoma
Clinical subtype
268843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843
Malformation of the neurenteric canal, spinal cord and column
Category
63260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260
Craniorachischisis
Morphological anomaly
1048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048
Isolated anencephaly/exencephaly
Morphological anomaly
563609
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609
Isolated anencephaly
Clinical subtype
563612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612
Isolated exencephaly
Clinical subtype
63259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259
Iniencephaly
Morphological anomaly
268363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363
Open iniencephaly
Clinical subtype
268366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366
Closed iniencephaly
Clinical subtype
268817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817
Cephalocele
Clinical group
199647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647
Isolated encephalocele
Morphological anomaly
268826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826
Parietal encephalocele
Clinical subtype
268829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829
Basal encephalocele
Clinical subtype
1931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931
Frontal encephalocele
Clinical subtype
141118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118
Nasal encephalocele
Clinical subtype
268823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823
Occipital encephalocele
Clinical subtype
268820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820
Cranial meningocele
Morphological anomaly
573278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278
Split cord malformation
Clinical group
573253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253
Split cord malformation type II
Morphological anomaly
1671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671
Split cord malformation type I
Morphological anomaly
633076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076
Split cord malformation, composite type
Morphological anomaly
656126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126
Segmental spinal dysgenesis
Disease
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
2789
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789
Lateral meningocele syndrome
Malformation syndrome
99856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856
Primary syringomyelia
Morphological anomaly
99858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858
Idiopathic syringomyelia
Clinical subtype
370034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034
Familial syringomyelia
Clinical subtype
268861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861
Primary tethered cord syndrome
Morphological anomaly
268865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865
Neurenteric cyst
Morphological anomaly
268868
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868
Isolated amyelia
Morphological anomaly
268882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882
Arnold-Chiari malformation type I
Morphological anomaly
397927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Malformation syndrome
98518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98518
Cranial nerve and nuclear aplasia
Category
570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570
Moebius syndrome
Disease
233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233
Duane retraction syndrome
Malformation syndrome
306527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527
Isolated hereditary congenital facial paralysis
Morphological anomaly
306530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530
Congenital hereditary facial paralysis-variable hearing loss syndrome
Morphological anomaly
324353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353
Congenital achiasma
Morphological anomaly
98519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98519
Posterior fossa malformation
Category
98523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523
Non-syndromic pontocerebellar hypoplasia
Clinical group
2524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524
Pontocerebellar hypoplasia type 2
Malformation syndrome
2254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254
Pontocerebellar hypoplasia type 1
Malformation syndrome
97249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249
Pontocerebellar hypoplasia type 3
Malformation syndrome
166063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063
Pontocerebellar hypoplasia type 4
Malformation syndrome
166073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073
Pontocerebellar hypoplasia type 6
Malformation syndrome
284339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339
Pontocerebellar hypoplasia type 7
Malformation syndrome
324569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569
Pontocerebellar hypoplasia type 8
Malformation syndrome
369920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920
Pontocerebellar hypoplasia type 9
Malformation syndrome
411493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493
Pontocerebellar hypoplasia type 10
Malformation syndrome
611256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256
Pontocerebellar hypoplasia type 12
Malformation syndrome
611247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247
Pontocerebellar hypoplasia type 11
Malformation syndrome
613267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267
Pontocerebellar hypoplasia type 13
Malformation syndrome
613274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274
Pontocerebellar hypoplasia type 14
Malformation syndrome
182061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182061
Cerebellar malformation
Category
59315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315
Rhombencephalosynapsis
Malformation syndrome
98514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98514
Malformation of the cerebellar vermis
Category
475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475
Joubert syndrome
Malformation syndrome
199630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199630
Isolated cerebellar vermis hypoplasia
Morphological anomaly
269203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203
Isolated cerebellar vermis agenesis
Morphological anomaly
269206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269206
Isolated total cerebellar vermis agenesis
Clinical subtype
269209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269209
Isolated partial cerebellar vermis agenesis
Clinical subtype
98516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98516
Malformation of the cerebellar hemispheres
Category
269218
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218
Isolated unilateral hemispheric cerebellar hypoplasia
Morphological anomaly
269221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221
Isolated bilateral hemispheric cerebellar hypoplasia
Morphological anomaly
269224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269224
Global cerebellar malformation
Category
1397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397
Hydrocephaly-cerebellar agenesis syndrome
Malformation syndrome
1398
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398
Isolated cerebellar agenesis
Morphological anomaly
269229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229
Pontine tegmental cap dysplasia
Morphological anomaly
217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217
Isolated Dandy-Walker malformation
Morphological anomaly
269212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212
Isolated Dandy-Walker malformation with hydrocephalus
Clinical subtype
269215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215
Isolated Dandy-Walker malformation without hydrocephalus
Clinical subtype
97252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97252
Mega-cisterna magna
Morphological anomaly
98922
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98922
Blake pouch cyst
Morphological anomaly
199633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199633
Non-syndromic cerebral malformation
Category
1665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1665
Sporadic fetal brain disruption sequence
Malformation syndrome
2477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477
Megalencephaly
Malformation syndrome
268920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268920
Isolated megalencephaly
Clinical subtype
99802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802
Hemimegalencephaly
Malformation syndrome
163209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209
Non-syndromic cerebral malformation due to abnormal neuronal migration
Category
2149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149
Nodular neuronal heterotopia
Morphological anomaly
98892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892
Periventricular nodular heterotopia
Clinical subtype
101029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029
Sub-cortical nodular heterotopia
Clinical subtype
101030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030
Subependymal nodular heterotopia
Clinical subtype
35981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981
Polymicrogyria
Clinical group
268940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940
Bilateral polymicrogyria
Morphological anomaly
98889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889
Bilateral perisylvian polymicrogyria
Clinical subtype
101070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070
Bilateral frontoparietal polymicrogyria
Clinical subtype
208441
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441
Bilateral parasagittal parieto-occipital polymicrogyria
Clinical subtype
208444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444
Bilateral frontal polymicrogyria
Clinical subtype
208447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447
Bilateral generalized polymicrogyria
Clinical subtype
268943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943
Unilateral polymicrogyria
Morphological anomaly
101071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071
Unilateral hemispheric polymicrogyria
Clinical subtype
268947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947
Unilateral focal polymicrogyria
Clinical subtype
99796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796
Subcortical band heterotopia
Morphological anomaly
268950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950
Cerebral cortical dysplasia
Clinical group
65683
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683
Isolated focal cortical dysplasia
Disease
268961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961
Isolated focal cortical dysplasia type I
Clinical subtype
268973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973
Isolated focal cortical dysplasia type Ia
Histopathological subtype
268980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980
Isolated focal cortical dysplasia type Ib
Histopathological subtype
268987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987
Isolated focal cortical dysplasia type Ic
Histopathological subtype
268994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994
Isolated focal cortical dysplasia type II
Clinical subtype
269001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001
Isolated focal cortical dysplasia type IIa
Histopathological subtype
269008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008
Isolated focal cortical dysplasia type IIb
Histopathological subtype
280640
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640
Occipital pachygyria and polymicrogyria
Malformation syndrome
300570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Disease
329329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329
Autosomal recessive frontotemporal pachygyria
Malformation syndrome
2798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798
Pachygyria-intellectual disability-epilepsy syndrome
Malformation syndrome
199642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642
Isolated congenital microcephaly
Malformation syndrome
2512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512
Autosomal recessive primary microcephaly
Etiological subtype
2514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514
Autosomal dominant primary microcephaly
Etiological subtype
268926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926
Midline cerebral malformation
Category
2162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162
Holoprosencephaly
Malformation syndrome
93924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924
Lobar holoprosencephaly
Clinical subtype
93925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925
Alobar holoprosencephaly
Clinical subtype
93926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926
Midline interhemispheric variant of holoprosencephaly
Clinical subtype
220386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386
Semilobar holoprosencephaly
Clinical subtype
280195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195
Septopreoptic holoprosencephaly
Clinical subtype
1126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126
Aprosencephaly cerebellar dysgenesis
Malformation syndrome
314621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621
Duplication of the pituitary gland
Morphological anomaly
280200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200
Microform holoprosencephaly
Malformation syndrome
566847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847
Aprosencephaly/atelencephaly spectrum
Morphological anomaly
566852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852
Atelencephaly
Clinical subtype
566857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857
Aprosencephaly
Clinical subtype
268936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936
Isolated arhinencephaly
Morphological anomaly
269190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269190
Encephaloclastic disorder
Clinical group
799
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799
Schizencephaly
Disease
485275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275
Acquired schizencephaly
Etiological subtype
481986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986
Familial schizencephaly
Etiological subtype
2177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177
Hydranencephaly
Malformation syndrome
2940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940
Porencephaly
Disease
99810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810
Familial porencephaly
Etiological subtype
314697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697
Acquired porencephaly
Etiological subtype
319192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192
Diencephalic-mesencephalic junction dysplasia
Morphological anomaly
200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200
Isolated corpus callosum agenesis
Morphological anomaly
269194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269194
Central nervous system cystic malformation
Category
2356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356
Arachnoid cyst
Morphological anomaly
269197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197
Glioependymal/ependymal cyst
Morphological anomaly
530033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530033
Dermoid or epidermoid cyst of the central nervous system
Morphological anomaly
108991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108991
Syndrome with a central nervous system malformation as a major feature
Category
48471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471
Lissencephaly
Category
1083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083
Microlissencephaly
Morphological anomaly
89844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844
Lissencephaly syndrome, Norman-Roberts type
Clinical subtype
51577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577
Cobblestone lissencephaly
Clinical group
352682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682
Cobblestone lissencephaly without muscular or ocular involvement
Disease
352687
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Clinical group
272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272
Congenital muscular dystrophy, Fukuyama type
Malformation syndrome
899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899
Walker-Warburg syndrome
Disease
588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
Muscle-eye-brain disease
Malformation syndrome
370997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Disease
86823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823
Lissencephaly with cerebellar hypoplasia
Clinical group
100011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011
Lissencephaly with cerebellar hypoplasia type A
Malformation syndrome
100012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012
Lissencephaly with cerebellar hypoplasia type B
Malformation syndrome
100013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013
Lissencephaly with cerebellar hypoplasia type C
Malformation syndrome
100014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014
Lissencephaly with cerebellar hypoplasia type D
Malformation syndrome
100015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015
Lissencephaly with cerebellar hypoplasia type E
Malformation syndrome
100016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016
Lissencephaly with cerebellar hypoplasia type F
Malformation syndrome
102009
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009
Classic lissencephaly
Clinical group
572013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Malformation syndrome
2148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148
Lissencephaly type 1 due to doublecortin gene mutation
Disease
531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531
Miller-Dieker syndrome
Malformation syndrome
1084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084
Isolated lissencephaly type 1 without known genetic defects
Disease
95232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232
Lissencephaly due to LIS1 mutation
Disease
102010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010
Other syndrome with lissencephaly as a major feature
Category
1528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528
Craniotelencephalic dysplasia
Malformation syndrome
2510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510
Micro syndrome
Malformation syndrome
2995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995
Baraitser-Winter cerebrofrontofacial syndrome
Malformation syndrome
452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452
X-linked lissencephaly with abnormal genitalia
Malformation syndrome
102011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011
Lissencephaly type 3
Clinical group
2671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671
Neu-Laxova syndrome
Malformation syndrome
583607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Etiological subtype
583612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Etiological subtype
583602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Etiological subtype
86821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Malformation syndrome
86822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Malformation syndrome
171680
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680
Lissencephaly due to TUBA1A mutation
Malformation syndrome
199639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199639
Syndrome with corpus callosum agenesis/dysgenesis as a major feature
Category
1083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083
Microlissencephaly
Morphological anomaly
89844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844
Lissencephaly syndrome, Norman-Roberts type
Clinical subtype
83473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Malformation syndrome
50
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50
Aicardi syndrome
Disease
36
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Acrocallosal syndrome
Malformation syndrome
1496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496
Corpus callosum agenesis-neuronopathy syndrome
Disease
1493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493
Vici syndrome
Malformation syndrome
1495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Malformation syndrome
1553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553
Curry-Jones syndrome
Malformation syndrome
1777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777
Temtamy syndrome
Malformation syndrome
3338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338
Toriello-Carey syndrome
Malformation syndrome
2510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510
Micro syndrome
Malformation syndrome
3207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Malformation syndrome
52055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Malformation syndrome
171703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Malformation syndrome
275543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543
L1 syndrome
Malformation syndrome
2182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182
Hydrocephalus with stenosis of the aqueduct of Sylvius
Clinical subtype
2466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466
MASA syndrome
Clinical subtype
1497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497
X-linked complicated corpus callosum dysgenesis
Clinical subtype
306617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617
X-linked complicated spastic paraplegia type 1
Clinical subtype
423655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655
ARX-related encephalopathy-brain malformation spectrum
Clinical group
2508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508
Corpus callosum agenesis-abnormal genitalia syndrome
Malformation syndrome
452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452
X-linked lissencephaly with abnormal genitalia
Malformation syndrome
459074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Malformation syndrome
466688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Malformation syndrome
457284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Malformation syndrome
467166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166
Tubulinopathy-associated dysgyria
Disease
500159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
Malformation syndrome
447893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Clinical subtype
269523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269523
Syndrome with a cerebellar malformation as a major feature
Category
459070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Malformation syndrome
466688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Malformation syndrome
468699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699
SLC39A8-CDG
Disease
314597
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597
Chudley-McCullough syndrome
Malformation syndrome
1493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493
Vici syndrome
Malformation syndrome
443162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162
NDE1-related microhydranencephaly
Malformation syndrome
2318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318
Joubert syndrome with oculorenal defect
Malformation syndrome
1454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454
Joubert syndrome with hepatic defect
Disease
1532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532
Gómez-López-Hernández syndrome
Malformation syndrome
2246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Malformation syndrome
3322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322
Hoyeraal-Hreidarsson syndrome
Disease
3469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469
XK aprosencephaly syndrome
Malformation syndrome
42775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775
PHACE syndrome
Malformation syndrome
65285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285
Lhermitte-Duclos disease
Disease
65288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Malformation syndrome
85186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186
Endosteal sclerosis-cerebellar hypoplasia syndrome
Malformation syndrome
137831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831
X-linked intellectual disability-cerebellar hypoplasia syndrome
Disease
163937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937
X-linked intellectual disability, Najm type
Disease
163961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961
X-linked cerebral-cerebellar-coloboma syndrome
Disease
220493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493
Joubert syndrome with ocular defect
Malformation syndrome
220497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497
Joubert syndrome with renal defect
Malformation syndrome
269546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269546
Syndrome with a Dandy-Walker malformation as a major feature
Category
1538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Malformation syndrome
7
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7
3C syndrome
Malformation syndrome
916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916
Aase-Smith syndrome
Malformation syndrome
1568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Malformation syndrome
1970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Malformation syndrome
2218
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218
Cervical hypertrichosis-peripheral neuropathy syndrome
Disease
3032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032
NPHP3-related Meckel-like syndrome
Malformation syndrome
2427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427
Macrocephaly-short stature-paraplegia syndrome
Malformation syndrome
73245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Malformation syndrome
79332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332
B4GALT1-CDG
Disease
1566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566
Dandy-Walker malformation-postaxial polydactyly syndrome
Malformation syndrome
370022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Disease
397709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Malformation syndrome
401959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Malformation syndrome
439897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Malformation syndrome
444072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072
Cerebellar-facial-dental syndrome
Malformation syndrome
300573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573
Polymicrogyria due to TUBB2B mutation
Malformation syndrome
467166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166
Tubulinopathy-associated dysgyria
Disease
480898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Disease
495875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Malformation syndrome
529665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Malformation syndrome
2703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Malformation syndrome
580933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933
Lethal brain and heart developmental defects
Malformation syndrome
611223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223
EN1-related dorsoventral syndrome
Malformation syndrome
615954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615954
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Clinical syndrome
615983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
Etiological subtype
615986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
Etiological subtype
269528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269528
Syndrome with microcephaly as a major feature
Category
597743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Malformation syndrome
572333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Malformation syndrome
481152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152
PYCR2-related microcephaly-progressive leukoencephalopathy
Malformation syndrome
2510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510
Micro syndrome
Malformation syndrome
1270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270
Bowen-Conradi syndrome
Malformation syndrome
2515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515
Microcephaly-cardiomyopathy syndrome
Malformation syndrome
2522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522
Microcephaly-cervical spine fusion anomalies syndrome
Malformation syndrome
2523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Malformation syndrome
2526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526
Microcephaly-lymphedema-chorioretinopathy syndrome
Malformation syndrome
2528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528
Microcephaly-microcornea syndrome, Seemanova type
Malformation syndrome
99742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742
Amish lethal microcephaly
Malformation syndrome
293967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Malformation syndrome
294016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016
Microcephaly-capillary malformation syndrome
Malformation syndrome
306558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Disease
313795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795
Jawad syndrome
Malformation syndrome
324761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761
Microcephalic primordial dwarfism
Clinical group
808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808
Seckel syndrome
Malformation syndrome
2554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554
Ear-patella-short stature syndrome
Malformation syndrome
2643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643
Microcephalic primordial dwarfism, Toriello type
Malformation syndrome
2636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636
Microcephalic osteodysplastic primordial dwarfism types I and III
Malformation syndrome
2637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637
Microcephalic osteodysplastic primordial dwarfism type II
Malformation syndrome
85172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Disease
319671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671
Alazami syndrome
Malformation syndrome
319675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675
Microcephalic primordial dwarfism, Dauber type
Malformation syndrome
329228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228
Microcephalic primordial dwarfism due to ZNF335 deficiency
Malformation syndrome
468631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631
Microcephalic cortical malformations-short stature due to RTTN deficiency
Malformation syndrome
658595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595
DNMT3A-related microcephalic dwarfism
Malformation syndrome
572761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Malformation syndrome
572768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768
Microcephaly-micromelia syndrome
Clinical subtype
572773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773
Microcephaly-short stature-limb abnormalities syndrome
Clinical subtype
329332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Malformation syndrome
391408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Disease
402364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Malformation syndrome
404437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
439897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Malformation syndrome
443162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162
NDE1-related microhydranencephaly
Malformation syndrome
477814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Malformation syndrome
633035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035
Intellectual disability-early-onset cataract-microcephaly syndrome
Malformation syndrome
269531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269531
Other syndrome with a central nervous system malformation as a major feature
Category
529574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574
Duane retraction syndrome with congenital deafness
Malformation syndrome
443162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162
NDE1-related microhydranencephaly
Malformation syndrome
480528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528
Lethal hydranencephaly-diaphragmatic hernia syndrome
Malformation syndrome
300573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573
Polymicrogyria due to TUBB2B mutation
Malformation syndrome
93932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932
FG syndrome type 1
Disease
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
2744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744
Horizontal gaze palsy with progressive scoliosis
Disease
3176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176
Spina bifida-hypospadias syndrome
Malformation syndrome
1647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647
Oculocerebrocutaneous syndrome
Malformation syndrome
1756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756
Caudal duplication
Malformation syndrome
2065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065
Galloway-Mowat syndrome
Malformation syndrome
2184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184
Hydrocephaly-low insertion umbilicus syndrome
Malformation syndrome
2163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163
Holoprosencephaly-craniosynostosis syndrome
Malformation syndrome
2165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165
Holoprosencephaly-caudal dysgenesis syndrome
Malformation syndrome
2189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189
Hydrolethalus
Malformation syndrome
2351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351
Kousseff syndrome
Malformation syndrome
2570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Malformation syndrome
3157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157
Septo-optic dysplasia spectrum
Malformation syndrome
1768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768
Familial caudal dysgenesis
Malformation syndrome
63862
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862
Schisis association
Malformation syndrome
66625
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625
Cerebrooculonasal syndrome
Malformation syndrome
83628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628
LUMBAR syndrome
Malformation syndrome
171839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Malformation syndrome
210548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548
Macrocephaly-intellectual disability-autism syndrome
Disease
221126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126
Fowler vasculopathy
Malformation syndrome
247198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198
Progressive cerebello-cerebral atrophy
Disease
250972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972
Polymicrogyria with optic nerve hypoplasia
Malformation syndrome
251383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383
CK syndrome
Malformation syndrome
306547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Malformation syndrome
314597
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597
Chudley-McCullough syndrome
Malformation syndrome
314993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993
Cataract-congenital heart disease-neural tube defect syndrome
Malformation syndrome
356961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961
SLC35A2-CDG
Disease
443988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988
Ventriculomegaly-cystic kidney disease
Disease
444069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Malformation syndrome
500135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Malformation syndrome
2117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117
Hartsfield syndrome
Malformation syndrome
500144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Malformation syndrome
500150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Malformation syndrome
556955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955
Pancreatic agenesis-holoprosencephaly syndrome
Disease
1861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861
Thoracic dysplasia-hydrocephalus syndrome
Malformation syndrome
544469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469
PRUNE1-related neurological syndrome
Malformation syndrome
592570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Malformation syndrome
610569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
Disease
603448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Malformation syndrome
98045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98045
Respiratory or mediastinal malformation
Category
108993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108993
Non-syndromic respiratory or mediastinal malformation
Category
2414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414
Congenital pulmonary lymphangiectasia
Disease
2444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444
Congenital pulmonary airway malformation
Malformation syndrome
280827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827
Congenital pulmonary airway malformation type 0
Clinical subtype
280832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832
Congenital pulmonary airway malformation type 1
Clinical subtype
280840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840
Congenital pulmonary airway malformation type 2
Clinical subtype
280847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847
Congenital pulmonary airway malformation type 3
Clinical subtype
280854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854
Congenital pulmonary airway malformation type 4
Clinical subtype
3346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346
Tracheal agenesis
Morphological anomaly
984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984
Pulmonary agenesis
Morphological anomaly
2040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040
Congenital respiratory-biliary fistula
Morphological anomaly
1928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928
Congenital lobar emphysema
Morphological anomaly
2004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004
Laryngotracheoesophageal cleft
Morphological anomaly
93938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938
Laryngotracheoesophageal cleft type 1
Clinical subtype
93939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939
Laryngotracheoesophageal cleft type 2
Clinical subtype
93940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940
Laryngotracheoesophageal cleft type 3
Clinical subtype
93941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941
Laryngotracheoesophageal cleft type 4
Clinical subtype
280205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205
Laryngotracheoesophageal cleft type 0
Clinical subtype
2257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257
Primary pulmonary hypoplasia
Morphological anomaly
2038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038
Pulmonary arteriovenous malformation
Morphological anomaly
3161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161
Congenital pulmonary sequestration
Malformation syndrome
280802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802
Intralobar congenital pulmonary sequestration
Clinical subtype
280811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811
Extralobar congenital pulmonary sequestration
Clinical subtype
280821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821
Communicating congenital bronchopulmonary-foregut malformation
Clinical subtype
70589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589
Bronchopulmonary dysplasia
Malformation syndrome
95430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430
Congenital tracheomalacia
Morphological anomaly
411501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501
Williams-Campbell syndrome
Morphological anomaly
649014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649014
Bronchial malformation
Clinical group
648992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648992
Non-syndromic bridging bronchus
Morphological anomaly
649010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649010
Non-syndromic congenital bronchial atresia
Morphological anomaly
649029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649029
Isolated left bronchial isomerism
Morphological anomaly
2357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357
Bronchogenic cyst
Morphological anomaly
454750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750
Isolated tracheoesophageal fistula
Morphological anomaly
108995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108995
Syndromic respiratory or mediastinal malformation
Category
994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994
Fetal akinesia deformation sequence
Malformation syndrome
1120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120
Lung agenesis-heart defect-thumb anomalies syndrome
Malformation syndrome
1486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486
Lethal congenital contracture syndrome type 1
Malformation syndrome
2407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407
Laryngo-onycho-cutaneous syndrome
Disease
2470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Matthew-Wood syndrome
Malformation syndrome
3035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035
Growth delay-hydrocephaly-lung hypoplasia syndrome
Malformation syndrome
2745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745
Opitz GBBB syndrome
Malformation syndrome
1132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132
Aortic arch defects
Category
99075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075
Encircling double aortic arch
Morphological anomaly
99076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076
Persistent fifth aortic arch
Morphological anomaly
99077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077
Kommerell diverticulum
Morphological anomaly
99078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078
Neuhauser anomaly
Morphological anomaly
99079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079
Cervical aortic arch
Morphological anomaly
99081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081
Right aortic arch
Morphological anomaly
99082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082
Dysphagia lusoria
Morphological anomaly
98196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98196
Malformation syndrome with hamartosis
Category
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377
Gorlin syndrome
Malformation syndrome
2869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869
Peutz-Jeghers syndrome
Disease
774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774
Hereditary hemorrhagic telangiectasia
Disease
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
2346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346
Angioosteohypertrophic syndrome
Clinical group
90307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307
Parkes Weber syndrome
Disease
90308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308
Klippel-Trénaunay syndrome
Disease
2612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612
Linear nevus sebaceus syndrome
Disease
3205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205
Sturge-Weber syndrome
Malformation syndrome
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638
Neurofibromatosis-Noonan syndrome
Malformation syndrome
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
1062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062
Hereditary neurocutaneous malformation
Disease
2092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Focal dermal hypoplasia
Malformation syndrome
296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296
Ollier disease
Disease
2874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874
Phakomatosis pigmentokeratotica
Malformation syndrome
2875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875
Phakomatosis pigmentovascularis
Disease
79483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483
Phakomatosis cesioflammea
Clinical subtype
79484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484
Phakomatosis cesiomarmorata
Clinical subtype
79485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485
Phakomatosis spilorosea
Clinical subtype
64755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755
Becker nevus syndrome
Disease
79665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665
Gardner syndrome
Clinical subtype
93921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921
Full schwannomatosis
Disease
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
276280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280
Hemihyperplasia-multiple lipomatosis syndrome
Malformation syndrome
306498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498
PTEN hamartoma tumor syndrome
Clinical group
65285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285
Lhermitte-Duclos disease
Disease
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Bannayan-Riley-Ruvalcaba syndrome
Malformation syndrome
2969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969
Proteus-like syndrome
Disease
137608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Malformation syndrome
98553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98553
Developmental defect of the eye
Category
83461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461
Congenital primary aphakia
Malformation syndrome
137905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905
Syndromic optic nerve hypoplasia
Category
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
3157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157
Septo-optic dysplasia spectrum
Malformation syndrome
250972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972
Polymicrogyria with optic nerve hypoplasia
Malformation syndrome
519333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519333
Congenital optic disc excavation
Category
519400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519400
Peripapillary staphyloma
Morphological anomaly
519404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519404
Optic disc pit
Morphological anomaly
98947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947
Coloboma of optic disc
Morphological anomaly
464760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760
Familial cavitary optic disc anomaly
Morphological anomaly
35737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737
Morning glory disc anomaly
Morphological anomaly
519402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519402
Isolated megalopapilla
Morphological anomaly
519345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519345
Rare disorder with optic disc malformation
Category
324737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737
SRD5A3-CDG
Disease
435930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Disease
52055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Malformation syndrome
1475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475
Renal coloboma syndrome
Malformation syndrome
98560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98560
Rare palpebral disorder
Category
98561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98561
Congenital malformation of the eyelid
Category
98562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98562
Cryptophthalmia
Category
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
91396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396
Isolated cryptophthalmia
Morphological anomaly
98948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948
Congenital symblepharon
Clinical subtype
98949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949
Complete cryptophthalmia
Clinical subtype
98950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950
Partial cryptophthalmia
Clinical subtype
98563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98563
Microblepharon-ablephara syndrome
Clinical group
920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920
Ablepharon macrostomia syndrome
Malformation syndrome
2671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671
Neu-Laxova syndrome
Malformation syndrome
583607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Etiological subtype
583612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Etiological subtype
583602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Etiological subtype
98564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98564
Eyelid border anomaly
Category
91397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397
Isolated ankyloblepharon filiforme adnatum
Morphological anomaly
98565
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98565
Syndromic ankyloblepharon filiforme adnatum
Category
294963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963
Popliteal pterygium syndrome
Clinical group
1234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Bartsocas-Papas syndrome
Malformation syndrome
1300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300
Autosomal dominant popliteal pterygium syndrome
Malformation syndrome
1071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Malformation syndrome
1072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Clinical subtype
1074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Clinical subtype
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
85275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275
Microphthalmia-ankyloblepharon-intellectual disability syndrome
Malformation syndrome
98566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566
Syndromic eyelid coloboma
Category
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
1234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Bartsocas-Papas syndrome
Malformation syndrome
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
2399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399
Nasopalpebral lipoma-coloboma syndrome
Malformation syndrome
2717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717
Oculotrichoanal syndrome
Malformation syndrome
98946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946
Coloboma of eyelid
Morphological anomaly
99176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176
Congenital eyelid retraction
Morphological anomaly
98567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98567
Rare eyelid malposition disorder
Category
98578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578
Rare disorder with ptosis
Category
596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596
X-linked centronuclear myopathy
Disease
235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Dubowitz syndrome
Malformation syndrome
2308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308
Jacobsen syndrome
Malformation syndrome
606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606
Proximal myotonic myopathy
Disease
270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270
Oculopharyngeal muscular dystrophy
Disease
1876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876
Oculogastrointestinal muscular dystrophy
Disease
127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127
Borjeson-Forssman-Lehmann syndrome
Malformation syndrome
1323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323
Camptodactyly-joint contractures-facial skeletal defects syndrome
Malformation syndrome
1352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Malformation syndrome
2057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Malformation syndrome
2980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980
Acrootoocular syndrome
Malformation syndrome
2997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997
Ptosis-vocal cord paralysis syndrome
Malformation syndrome
2999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999
Ptosis-strabismus-ectopic pupils syndrome
Malformation syndrome
2995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995
Baraitser-Winter cerebrofrontofacial syndrome
Malformation syndrome
663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663
Mitochondrial DNA-related progressive external ophthalmoplegia
Disease
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298
Mitochondrial neurogastrointestinal encephalomyopathy
Disease
590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590
Congenital myasthenic syndrome
Disease
98913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913
Postsynaptic congenital myasthenic syndromes
Etiological subtype
98914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914
Presynaptic congenital myasthenic syndromes
Etiological subtype
98915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915
Synaptic congenital myasthenic syndromes
Etiological subtype
353327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327
Congenital myasthenic syndromes with glycosylation defect
Etiological subtype
230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230
Dopamine beta-hydroxylase deficiency
Disease
45358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358
Congenital fibrosis of extraocular muscles
Disease
46627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627
Char syndrome
Malformation syndrome
66629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629
Goldberg-Shprintzen megacolon syndrome
Malformation syndrome
91412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412
Marcus-Gunn syndrome
Disease
98951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951
Inverse Marcus-Gunn phenomenon
Clinical subtype
101104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104
Marin-Amat syndrome
Clinical subtype
91413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413
Congenital Horner syndrome
Disease
98897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897
Oculopharyngodistal myopathy
Disease
228396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Malformation syndrome
273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273
Steinert myotonic dystrophy
Disease
589824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824
Childhood-onset Steinert myotonic dystrophy
Clinical subtype
589827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827
Juvenile-onset Steinert myotonic dystrophy
Clinical subtype
589830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830
Adult-onset Steinert myotonic dystrophy
Clinical subtype
589833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833
Late-onset Steinert myotonic dystrophy
Clinical subtype
589821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821
Congenital-onset Steinert myotonic dystrophy
Clinical subtype
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794
Saethre-Chotzen syndrome
Malformation syndrome
126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126
Blepharophimosis-ptosis-epicanthus inversus syndrome
Malformation syndrome
572354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Clinical subtype
572361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Clinical subtype
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
293642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642
Blepharophimosis-intellectual disability syndrome
Clinical group
637013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013
SMARCA2-related blepharophimosis-intellectual disability syndrome
Malformation syndrome
1620
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620
Distal deletion 3p
Malformation syndrome
2728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728
Blepharophimosis-intellectual disability syndrome, Ohdo type
Malformation syndrome
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
293707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707
Blepharophimosis-intellectual disability syndrome, MKB type
Malformation syndrome
293725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725
Blepharophimosis-intellectual disability syndrome, Verloes type
Malformation syndrome
91411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411
Congenital ptosis
Disease
502430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430
Weiss-Kruszka Syndrome
Malformation syndrome
572333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Malformation syndrome
99169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169
Epiblepharon
Morphological anomaly
99172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172
Euryblepharon
Morphological anomaly
519268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519268
Rare disorder with ectropion
Category
98570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98570
Congenital ectropion
Category
1997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997
Blepharo-cheilo-odontic syndrome
Malformation syndrome
2322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322
Kabuki syndrome
Malformation syndrome
99171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171
Isolated congenital ectropion
Morphological anomaly
357158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Disease
98571
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571
Secondary ectropion
Category
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
1231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231
Barber-Say syndrome
Malformation syndrome
2269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Disease
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
90342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Xeroderma pigmentosum variant
Disease
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
281097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097
Autosomal recessive congenital ichthyosis
Clinical group
281127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127
Acral self-healing collodion baby
Disease
281122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122
Self-improving collodion baby
Disease
457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457
Harlequin ichthyosis
Disease
79394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394
Congenital ichthyosiform erythroderma
Disease
100976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976
Bathing suit ichthyosis
Disease
313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313
Lamellar ichthyosis
Disease
289586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586
Exfoliative ichthyosis
Disease
519270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519270
Rare disorder with entropion
Category
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
90342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Xeroderma pigmentosum variant
Disease
99170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170
Tarsal kink syndrome
Morphological anomaly
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
519386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519386
Isolated congenital entropion
Morphological anomaly
519390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519390
Isolated blepharochalasis
Disease
1253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253
Ascher syndrome
Malformation syndrome
46486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486
Mucous membrane pemphigoid
Disease
98574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574
Syndromic epicanthus
Category
1705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705
Distal duplication 14q
Malformation syndrome
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281
Monosomy 5p
Malformation syndrome
1587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587
Monosomy 13q14
Malformation syndrome
559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559
Marinesco-Sjögren syndrome
Disease
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
48431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Malformation syndrome
98575
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98575
Syndromic telecanthus
Category
2745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745
Opitz GBBB syndrome
Malformation syndrome
894
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894
Waardenburg syndrome type 1
Clinical subtype
896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896
Waardenburg syndrome type 3
Clinical subtype
126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126
Blepharophimosis-ptosis-epicanthus inversus syndrome
Malformation syndrome
572354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Clinical subtype
572361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Clinical subtype
2707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707
Oculocerebrofacial syndrome, Kaufman type
Malformation syndrome
572333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Malformation syndrome
98576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98576
Syndromic outer canthal malposition
Category
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
2701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701
Noonan syndrome-like disorder with loose anagen hair
Malformation syndrome
98594
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98594
Rare eyebrow/eyelash disorder
Category
33001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001
Lymphedema-distichiasis syndrome
Malformation syndrome
99177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177
Isolated distichiasis
Morphological anomaly
98605
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98605
Lacrimal drainage system anomaly
Category
141083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083
Nasolacrimal duct cyst
Morphological anomaly
451612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612
Familial congenital nasolacrimal duct obstruction
Morphological anomaly
519274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519274
Syndromic lacrimal system disorder
Category
1562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1562
Dacryocystitis-osteopoikilosis syndrome
Malformation syndrome
98606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606
Syndromic orbital border hypoplasia
Malformation syndrome
228396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Malformation syndrome
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
519272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519272
Structural developmental eye defect
Category
2484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484
Melnick-Needles syndrome
Malformation syndrome
98555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555
Microphthalmia-anophthalmia-coloboma
Category
2542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542
Isolated microphthalmia-anophthalmia-coloboma
Clinical group
35612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612
Nanophthalmos
Malformation syndrome
98938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938
Colobomatous microphthalmia
Malformation syndrome
202948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202948
Syndromic microphthalmia-anophthalmia-coloboma
Category
568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568
Microphthalmia, Lenz type
Malformation syndrome
1106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106
Microphthalmia with limb anomalies
Malformation syndrome
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
1806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806
Ectodermal dysplasia-blindness syndrome
Malformation syndrome
2470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Matthew-Wood syndrome
Malformation syndrome
2510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510
Micro syndrome
Malformation syndrome
2556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556
Microphthalmia with linear skin defects syndrome
Malformation syndrome
2712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712
Oculofaciocardiodental syndrome
Malformation syndrome
3434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434
MMEP syndrome
Malformation syndrome
77298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298
Anophthalmia/microphthalmia-esophageal atresia syndrome
Malformation syndrome
77299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299
Microphthalmia-brain atrophy syndrome
Malformation syndrome
85275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275
Microphthalmia-ankyloblepharon-intellectual disability syndrome
Malformation syndrome
139471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471
Microphthalmia with brain and digit anomalies
Malformation syndrome
157962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962
Oculoauricular syndrome, Schorderet type
Malformation syndrome
178364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364
Syndromic microphthalmia type 5
Malformation syndrome
251279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Disease
363741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Disease
424099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Malformation syndrome
431140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Malformation syndrome
2432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432
Macrosomia-microphthalmia-cleft palate syndrome
Malformation syndrome
2547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547
Microphthalmia-microtia-fetal akinesia syndrome
Malformation syndrome
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
611201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201
Oculogastrointestinal-neurodevelopmental syndrome
Malformation syndrome
466682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466682
Euthyroid Graves orbitopathy
Disease
468672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672
Colobomatous macrophthalmia-microcornea syndrome
Disease
519384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519384
Congenital cystic eye
Morphological anomaly
363396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396
High myopia-sensorineural deafness syndrome
Disease
88632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632
Anterior segment developmental anomaly
Category
98634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634
Anterior segment developmental anomaly without extraocular manifestations
Category
69736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736
Bilateral acute depigmentation of the iris
Disease
98978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978
Axenfeld anomaly
Morphological anomaly
250923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923
Isolated aniridia
Morphological anomaly
519388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388
Autosomal recessive anterior segment dysgenesis
Malformation syndrome
708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708
Peters anomaly
Morphological anomaly
91483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483
Rieger anomaly
Morphological anomaly
566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566
Congenital microcoria
Malformation syndrome
91491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491
Congenital ectropion uveae
Malformation syndrome
98944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944
Coloboma of iris
Morphological anomaly
488197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Disease
519392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392
Isolated iridoschisis
Disease
519276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519276
Anterior segment developmental abnormality with extraocular manifestations
Category
709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Peters plus syndrome
Malformation syndrome
782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Axenfeld-Rieger syndrome
Malformation syndrome
139450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Malformation syndrome
1473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473
Uveal coloboma-cleft lip and palate-intellectual disability
Malformation syndrome
2090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090
GMS syndrome
Malformation syndrome
2670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670
Pierson syndrome
Malformation syndrome
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Cat-eye syndrome
Malformation syndrome
96125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125
Distal deletion 6p
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
52055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Malformation syndrome
98557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98557
Syndromic aniridia
Category
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
1065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065
Aniridia-cerebellar ataxia-intellectual disability syndrome
Malformation syndrome
1064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Aniridia-renal agenesis-psychomotor retardation syndrome
Malformation syndrome
1069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069
Aniridia-absent patella syndrome
Malformation syndrome
1067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Malformation syndrome
1068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068
Aniridia-intellectual disability syndrome
Malformation syndrome
506307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307
Stromme syndrome
Malformation syndrome
2321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321
Jung syndrome
Malformation syndrome
91492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492
Early-onset non-syndromic cataract
Disease
98992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992
Early-onset partial cataract
Clinical subtype
98984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984
Pulverulent cataract
Clinical subtype
98988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988
Early-onset anterior polar cataract
Clinical subtype
98990
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990
Coralliform cataract
Clinical subtype
98993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993
Early-onset posterior polar cataract
Clinical subtype
98995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995
Early-onset zonular cataract
Clinical subtype
98985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985
Early-onset sutural cataract
Clinical subtype
98991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991
Early-onset nuclear cataract
Clinical subtype
441452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452
Early-onset lamellar cataract
Clinical subtype
98989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989
Cerulean cataract
Clinical subtype
441447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447
Early-onset posterior subcapsular cataract
Clinical subtype
98994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994
Total early-onset cataract
Clinical subtype
98652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98652
Lens size anomaly
Category
519294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519294
Syndromic microspherophakia
Category
2551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551
Microspherophakia-metaphyseal dysplasia syndrome
Malformation syndrome
3449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Weill-Marchesani syndrome
Malformation syndrome
85194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194
Spondylo-ocular syndrome
Malformation syndrome
363992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Disease
3086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086
Autosomal dominant vitreoretinochoroidopathy
Disease
2084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Malformation syndrome
519396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519396
Isolated microspherophakia
Morphological anomaly
98653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98653
Lens position anomaly
Category
1885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885
Isolated ectopia lentis
Malformation syndrome
519292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519292
Syndromic ectopia lentis
Category
2092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Focal dermal hypoplasia
Malformation syndrome
3449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Weill-Marchesani syndrome
Malformation syndrome
231736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Malformation syndrome
558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558
Marfan syndrome
Disease
284963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963
Marfan syndrome type 1
Clinical subtype
284973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973
Marfan syndrome type 2
Clinical subtype
2551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551
Microspherophakia-metaphyseal dysplasia syndrome
Malformation syndrome
171844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844
Blindness-scoliosis-arachnodactyly syndrome
Malformation syndrome
412022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Malformation syndrome
1068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068
Aniridia-intellectual disability syndrome
Malformation syndrome
1259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259
Blepharoptosis-myopia-ectopia lentis syndrome
Disease
2325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325
Epidermolysis bullosa simplex with anodontia/hypodontia
Malformation syndrome
394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394
Homocystinuria due to cystathionine beta-synthase deficiency
Disease
833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833
Encephalopathy due to sulfite oxidase deficiency
Disease
99731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731
Isolated sulfite oxidase deficiency
Clinical subtype
99732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Clinical subtype
308386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Etiological subtype
308393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Etiological subtype
308400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Etiological subtype
560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Marshall syndrome
Malformation syndrome
2084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Malformation syndrome
98655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98655
Lens shape anomaly
Category
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568
Microphthalmia, Lenz type
Malformation syndrome
63
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63
Alport syndrome
Disease
88917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917
X-linked Alport syndrome
Clinical subtype
88918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918
Autosomal dominant Alport syndrome
Clinical subtype
88919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919
Autosomal recessive Alport syndrome
Clinical subtype
1018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018
X-linked Alport syndrome-diffuse leiomyomatosis
Clinical subtype
653722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722
Digenic Alport syndrome
Clinical subtype
2092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Focal dermal hypoplasia
Malformation syndrome
98943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943
Coloboma of eye lens
Morphological anomaly
53691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691
Congenital cornea plana
Morphological anomaly
98635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98635
Corneodysgenesis
Category
91489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489
Isolated congenital megalocornea
Morphological anomaly
91490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490
Isolated congenital sclerocornea
Morphological anomaly
98942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942
Coloboma of choroid and retina
Morphological anomaly
1471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471
Coloboma of macula-brachydactyly type B syndrome
Malformation syndrome
91494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494
Macular coloboma-cleft palate-hallux valgus syndrome
Malformation syndrome
98945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945
Coloboma of macula
Morphological anomaly
156005
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156005
Primary early-onset glaucoma
Clinical group
98976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976
Congenital glaucoma
Disease
98977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977
Juvenile glaucoma
Disease
98631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98631
Congenital malformation of the eye with glaucoma as a major feature
Category
190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190
Coats disease
Disease
35612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612
Nanophthalmos
Malformation syndrome
64734
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734
Iridocorneal endothelial syndrome
Disease
98979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979
Chandler syndrome
Clinical subtype
98980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980
Cogan-Reese syndrome
Clinical subtype
98981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981
Essential iris atrophy
Clinical subtype
94058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058
Neovascular glaucoma
Particular clinical situation in a disease or syndrome
238763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Malformation syndrome
792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792
X-linked retinoschisis
Malformation syndrome
98634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634
Anterior segment developmental anomaly without extraocular manifestations
Category
69736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736
Bilateral acute depigmentation of the iris
Disease
98978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978
Axenfeld anomaly
Morphological anomaly
250923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923
Isolated aniridia
Morphological anomaly
519388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388
Autosomal recessive anterior segment dysgenesis
Malformation syndrome
708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708
Peters anomaly
Morphological anomaly
91483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483
Rieger anomaly
Morphological anomaly
566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566
Congenital microcoria
Malformation syndrome
91491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491
Congenital ectropion uveae
Malformation syndrome
98944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944
Coloboma of iris
Morphological anomaly
488197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Disease
519392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392
Isolated iridoschisis
Disease
98973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973
Posterior polymorphous corneal dystrophy
Disease
637064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064
Isolated optic nerve aplasia
Morphological anomaly
637061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061
Isolated optic nerve hypoplasia
Morphological anomaly
139009
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139009
Developmental anomaly of metabolic origin
Category
585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585
Multiple sulfatase deficiency
Disease
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436
Hypophosphatasia
Disease
247623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623
Perinatal lethal hypophosphatasia
Clinical subtype
247638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638
Prenatal benign hypophosphatasia
Clinical subtype
247651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651
Infantile hypophosphatasia
Clinical subtype
247667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667
Childhood-onset hypophosphatasia
Clinical subtype
247676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676
Adult hypophosphatasia
Clinical subtype
247685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685
Odontohypophosphatasia
Clinical subtype
394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394
Homocystinuria due to cystathionine beta-synthase deficiency
Disease
912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912
Zellweger syndrome
Disease
833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833
Encephalopathy due to sulfite oxidase deficiency
Disease
99731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731
Isolated sulfite oxidase deficiency
Clinical subtype
99732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Clinical subtype
308386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Etiological subtype
308393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Etiological subtype
308400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Etiological subtype
772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772
Infantile Refsum disease
Disease
79195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195
Sterol biosynthesis disorder
Category
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
35173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173
X-linked dominant chondrodysplasia punctata
Disease
46059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059
Lathosterolosis
Disease
309025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025
Mevalonate kinase deficiency
Disease
29
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29
Mevalonic aciduria
Clinical subtype
343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343
Hyperimmunoglobulinemia D with periodic fever
Clinical subtype
488168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Malformation syndrome
1426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426
Greenberg dysplasia
Disease
35107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107
Desmosterolosis
Disease
401973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973
MEND syndrome
Malformation syndrome
251383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383
CK syndrome
Malformation syndrome
79212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212
Mucolipidosis
Category
576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576
Mucolipidosis type II
Disease
577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577
Mucolipidosis type III
Disease
423461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461
Mucolipidosis type III alpha/beta
Clinical subtype
423470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470
Mucolipidosis type III gamma
Clinical subtype
578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578
Mucolipidosis type IV
Disease
79213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213
Mucopolysaccharidosis
Category
583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
Mucopolysaccharidosis type 6
Disease
276212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, rapidly progressing
Clinical subtype
276223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
Mucopolysaccharidosis type 6, slowly progressing
Clinical subtype
584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Mucopolysaccharidosis type 7
Disease
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
Mucopolysaccharidosis type 1
Disease
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
93474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Scheie syndrome
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Mucopolysaccharidosis type 4
Disease
309310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310
Mucopolysaccharidosis type 4B
Clinical subtype
309297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297
Mucopolysaccharidosis type 4A
Clinical subtype
67041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Hyaluronidase deficiency
Disease
87876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876
Sialidosis type 2
Disease
93399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399
Juvenile sialidosis type 2
Clinical subtype
93400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400
Congenital sialidosis type 2
Clinical subtype
97593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593
Pseudohypoparathyroidism
Category
457062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457062
Pseudohypoparathyroidism without Albright hereditary osteodystrophy
Clinical group
94089
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089
Pseudohypoparathyroidism type 1B
Disease
94090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090
Pseudohypoparathyroidism type 2
Disease
457059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Clinical group
79443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443
Pseudohypoparathyroidism type 1A
Disease
79444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444
Pseudohypoparathyroidism type 1C
Disease
79445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445
Pseudopseudohypoparathyroidism
Disease
369942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942
CADDS
Disease
371235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371235
Congenital disorder of glycosylation with developmental anomaly
Category
272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272
Congenital muscular dystrophy, Fukuyama type
Malformation syndrome
899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899
Walker-Warburg syndrome
Disease
588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
Muscle-eye-brain disease
Malformation syndrome
79332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332
B4GALT1-CDG
Disease
280633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633
Multiple congenital anomalies-hypotonia-seizures syndrome
Malformation syndrome
300496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Malformation syndrome
356961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961
SLC35A2-CDG
Disease
370930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930
XYLT1-CDG
Disease
370943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Disease
371183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371183
Congenital disorder of glycosylation with cardiac malformation as a major feature
Category
709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Peters plus syndrome
Malformation syndrome
2953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Musculocontractural Ehlers-Danlos syndrome
Disease
3474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
CHIME syndrome
Malformation syndrome
79329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329
MGAT2-CDG
Disease
79333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333
COG7-CDG
Disease
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-CDG
Disease
284139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139
Larsen-like syndrome, B3GAT3 type
Malformation syndrome
371195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371195
Congenital disorder of glycosylation-related bone disorder
Category
2311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311
Autosomal recessive spondylocostal dysostosis
Malformation syndrome
3144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144
Schneckenbecken dysplasia
Malformation syndrome
321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321
Multiple osteochondromas
Disease
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
247262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262
Hyperphosphatasia-intellectual disability syndrome
Disease
263463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463
CHST3-related skeletal dysplasia
Disease
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-CDG
Disease
284139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139
Larsen-like syndrome, B3GAT3 type
Malformation syndrome
314667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667
TMEM165-CDG
Disease
357058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058
Autosomal recessive cutis laxa type 2A
Disease
2834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Wrinkly skin syndrome
Clinical subtype
357074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074
Autosomal recessive cutis laxa type 2, classic type
Clinical subtype
363417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417
Temtamy preaxial brachydactyly syndrome
Malformation syndrome
369837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Malformation syndrome
536467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
371212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371212
Congenital disorder of glycosylation with deafness as a major feature
Category
3474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
CHIME syndrome
Malformation syndrome
244310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310
RFT1-CDG
Disease
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-CDG
Disease
363417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417
Temtamy preaxial brachydactyly syndrome
Malformation syndrome
139012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139012
Rare bone development disorder
Category
364526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364526
Primary bone dysplasia
Category
488265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265
Osteofibrous dysplasia
Disease
498445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498445
Genetic inflammatory or rheumatoid-like osteoarthropathy
Category
1159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159
Progressive pseudorheumatoid arthropathy of childhood
Disease
498474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474
Hyaline fibromatosis syndrome
Disease
2028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028
Juvenile hyaline fibromatosis
Clinical subtype
2176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176
Infantile systemic hyalinosis
Clinical subtype
1451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451
CINCA syndrome
Disease
210115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115
Sterile multifocal osteomyelitis with periostitis and pustulosis
Disease
53715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715
Familial tumoral calcinosis
Disease
306658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658
Familial normophosphatemic tumoral calcinosis
Clinical subtype
306661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Clinical subtype
77297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297
Majeed syndrome
Disease
498448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498448
Overgrowth or tall stature syndrome with skeletal involvement
Category
622925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925
X-linked severe syndromic thoracic aortic aneurysm and dissection
Malformation syndrome
558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558
Marfan syndrome
Disease
284963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963
Marfan syndrome type 1
Clinical subtype
284973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973
Marfan syndrome type 2
Clinical subtype
744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744
Proteus syndrome
Malformation syndrome
3447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447
Weaver syndrome
Malformation syndrome
821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821
Sotos syndrome
Disease
561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561
Marshall-Smith syndrome
Malformation syndrome
140944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944
CLOVES syndrome
Malformation syndrome
115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115
Congenital contractural arachnodactyly
Malformation syndrome
60030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030
Loeys-Dietz syndrome
Malformation syndrome
498488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488
Overgrowth syndrome with 2q37 translocation
Malformation syndrome
329191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191
Tall stature-long halluces-multiple extra-epiphyses syndrome
Disease
498485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Malformation syndrome
477831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831
Kosaki overgrowth syndrome
Malformation syndrome
597738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738
Luscan-Lumish syndrome
Malformation syndrome
364536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364536
Primary bone dysplasia with micromelia
Category
15
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15
Achondroplasia
Disease
429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429
Hypochondroplasia
Disease
628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628
Diastrophic dysplasia
Disease
2655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655
Thanatophoric dysplasia
Disease
1860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860
Thanatophoric dysplasia type 1
Clinical subtype
93274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274
Thanatophoric dysplasia type 2
Clinical subtype
1422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422
Chondrodysplasia-difference of sex development syndrome
Malformation syndrome
85165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Disease
364541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364541
Otopalatodigital syndrome spectrum disorder
Clinical group
90652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652
Otopalatodigital syndrome type 2
Malformation syndrome
1826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826
Frontometaphyseal dysplasia
Disease
2484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484
Melnick-Needles syndrome
Malformation syndrome
90650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650
Otopalatodigital syndrome type 1
Malformation syndrome
137834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834
Frank-Ter Haar syndrome
Disease
435804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Disease
253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Clinical group
642099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Disease
800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800
Schwartz-Jampel syndrome
Disease
239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239
Dyggve-Melchior-Clausen disease
Disease
560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Marshall syndrome
Malformation syndrome
2635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635
Metatropic dysplasia
Disease
828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828
Stickler syndrome
Disease
90653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Stickler syndrome type 1
Clinical subtype
90654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Stickler syndrome type 2
Clinical subtype
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
1159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159
Progressive pseudorheumatoid arthropathy of childhood
Disease
1427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427
Otospondylomegaepiphyseal dysplasia
Disease
1667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667
Wolcott-Rallison syndrome
Disease
1830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830
Schimke immuno-osseous dysplasia
Disease
1865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865
Dyssegmental dysplasia, Silverman-Handmaker type
Disease
485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485
Kniest dysplasia
Disease
3101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101
Richieri Costa-da Silva syndrome
Malformation syndrome
1856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856
Spondyloperipheral dysplasia-short ulna syndrome
Disease
83629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Disease
2619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619
Brachydactylous dwarfism, Mseleni type
Disease
93279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Disease
93282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Disease
93283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283
Spondyloepiphyseal dysplasia, Kimberley type
Disease
93284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284
Spondyloepiphyseal dysplasia tarda
Disease
93346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Disease
93347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347
Anauxetic dysplasia
Disease
93349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349
X-linked spondyloepimetaphyseal dysplasia
Disease
93351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351
Spondyloepimetaphyseal dysplasia, Irapa type
Disease
93352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352
Spondyloepimetaphyseal dysplasia, Shohat type
Disease
93356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356
Spondyloepimetaphyseal dysplasia, Missouri type
Disease
93357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357
SPONASTRIME dysplasia
Disease
93358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Disease
93360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Disease
94068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068
Spondyloepiphyseal dysplasia congenita
Disease
99642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642
Spondyloepimetaphyseal dysplasia, Handigodu type
Disease
137678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678
Spondyloepiphyseal dysplasia with metatarsal shortening
Disease
156728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Disease
156731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731
Dyssegmental dysplasia, Rolland-Desbuquois type
Disease
157965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
163649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Disease
163654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Disease
163662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662
Spondyloepiphyseal dysplasia, Reardon type
Disease
163665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665
Spondyloepiphyseal dysplasia tarda, Kohn type
Disease
163668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668
Spondyloepiphyseal dysplasia, MacDermot type
Malformation syndrome
166100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Malformation syndrome
168443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Disease
168451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Disease
168454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454
Spondyloepimetaphyseal dysplasia, Geneviève type
Disease
171866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866
Spondyloepimetaphyseal dysplasia, aggrecan type
Disease
178355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355
Smith-McCort dysplasia
Disease
228387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387
Spondylo-megaepiphyseal-metaphyseal dysplasia
Disease
263482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482
Spondyloepiphyseal dysplasia, Maroteaux type
Disease
353298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298
Roifman syndrome
Disease
370015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Disease
420794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794
Cono-spondylar dysplasia
Malformation syndrome
436174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Disease
642085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type
Disease
496751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751
EVEN-plus syndrome
Malformation syndrome
611207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Clinical syndrome
1458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458
CODAS syndrome
Malformation syndrome
457395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Malformation syndrome
459070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Malformation syndrome
459051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051
Spondyloepiphyseal dysplasia, Stanescu type
Disease
254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254
Spondylometaphyseal dysplasia
Clinical group
168555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555
Spondylometaphyseal dysplasia, A4 type
Disease
448267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267
Regressive spondylometaphyseal dysplasia
Malformation syndrome
1855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855
Spondyloenchondrodysplasia
Malformation syndrome
85167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Disease
93314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314
Spondylometaphyseal dysplasia, Kozlowski type
Disease
93315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315
Spondylometaphyseal dysplasia, 'corner fracture' type
Disease
93316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316
Spondylometaphyseal dysplasia, Schmidt type
Disease
166272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272
Odontochondrodysplasia
Malformation syndrome
168544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544
Spondylometaphyseal dysplasia, Golden type
Disease
168549
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549
Axial spondylometaphyseal dysplasia
Disease
168552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Disease
589435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Malformation syndrome
93426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426
Ciliopathies with major skeletal involvement
Category
1505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505
Short rib-polydactyly syndrome
Clinical group
498497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497
Short rib-polydactyly syndrome type 5
Malformation syndrome
474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474
Jeune syndrome
Malformation syndrome
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
93268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268
Short rib-polydactyly syndrome, Beemer-Langer type
Malformation syndrome
93269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269
Short rib-polydactyly syndrome, Majewski type
Malformation syndrome
93270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270
Short rib-polydactyly syndrome, Saldino-Noonan type
Malformation syndrome
93271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271
Short rib-polydactyly syndrome, Verma-Naumoff type
Malformation syndrome
397715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Malformation syndrome
1803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803
Thoracomelic dysplasia
Disease
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
3317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317
Thoracolaryngopelvic dysplasia
Malformation syndrome
140969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969
Saldino-Mainzer syndrome
Disease
464366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366
NEK9-related lethal skeletal dysplasia
Malformation syndrome
1861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861
Thoracic dysplasia-hydrocephalus syndrome
Malformation syndrome
93429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429
Multiple epiphyseal dysplasia and pseudoachondroplasia
Category
251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251
Multiple epiphyseal dysplasia
Clinical group
93307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307
Multiple epiphyseal dysplasia type 4
Disease
93308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308
Multiple epiphyseal dysplasia type 1
Disease
93311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311
Multiple epiphyseal dysplasia type 5
Disease
166002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Disease
166011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166011
Multiple epiphyseal dysplasia, Beighton type
Disease
166016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016
Multiple epiphyseal dysplasia, Lowry type
Disease
166024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024
Multiple epiphyseal dysplasia, Al-Gazali type
Disease
166029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029
Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
Disease
166032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032
Multiple epiphyseal dysplasia, with miniepiphyses
Disease
647676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676
Multiple epiphyseal dysplasia type 7
Disease
1824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824
Lowry-Wood syndrome
Disease
2114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114
Hip dysplasia, Beukes type
Disease
750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750
Pseudoachondroplasia
Disease
168621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621
Dysplasia of head of femur, Meyer type
Disease
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
93430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430
Multiple metaphyseal dysplasia
Clinical group
1040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040
Metaphyseal anadysplasia
Disease
1240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1240
Metaphyseal acroscyphodysplasia
Disease
174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174
Metaphyseal chondrodysplasia, Schmid type
Disease
1837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837
Ulna metaphyseal dysplasia syndrome
Disease
2501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501
Metaphyseal chondrodysplasia, Spahr type
Disease
2502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Malformation syndrome
2504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Malformation syndrome
175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175
Cartilage-hair hypoplasia
Disease
811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811
Shwachman-Diamond syndrome
Disease
33067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067
Metaphyseal chondrodysplasia, Jansen type
Disease
166038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038
Metaphyseal chondrodysplasia, Kaitila type
Disease
79106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106
Eiken syndrome
Malformation syndrome
93434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434
Spondylodysplastic dysplasia
Clinical group
2746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746
Opsismodysplasia
Disease
932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932
Achondrogenesis
Disease
93296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296
Achondrogenesis type 2
Clinical subtype
93297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297
Hypochondrogenesis
Clinical subtype
93298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298
Achondrogenesis type 1B
Clinical subtype
93299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299
Achondrogenesis type 1A
Clinical subtype
1293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293
Brachyolmia
Clinical group
448242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242
Autosomal recessive brachyolmia
Malformation syndrome
2899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899
Brachyolmia-amelogenesis imperfecta syndrome
Malformation syndrome
93302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302
Brachyolmia, Maroteaux type
Malformation syndrome
93304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304
Autosomal dominant brachyolmia
Malformation syndrome
1436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436
X-linked skeletal dysplasia-intellectual disability syndrome
Malformation syndrome
3144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144
Schneckenbecken dysplasia
Malformation syndrome
3180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180
Spondylocamptodactyly syndrome
Malformation syndrome
3275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275
Spondylocarpotarsal synostosis
Malformation syndrome
66637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637
Diaphanospondylodysostosis
Malformation syndrome
85166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166
Platyspondylic dysplasia, Torrance type
Malformation syndrome
93317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317
Spondylometaphyseal dysplasia, Sedaghatian type
Malformation syndrome
401979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Malformation syndrome
508533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Disease
622934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934
SBDS-related severe neonatal spondylometaphyseal dysplasia
Malformation syndrome
93436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436
Acromelic dysplasia
Clinical group
464288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288
Short stature-brachydactyly-obesity-global developmental delay syndrome
Malformation syndrome
623695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695
MIR140-related spondyloepiphyseal dysplasia
Malformation syndrome
457059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Clinical group
79443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443
Pseudohypoparathyroidism type 1A
Disease
79444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444
Pseudohypoparathyroidism type 1C
Disease
79445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445
Pseudopseudohypoparathyroidism
Disease
950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950
Acrodysostosis
Malformation syndrome
969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969
Acromicric dysplasia
Malformation syndrome
2623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623
Geleophysic dysplasia
Malformation syndrome
3041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041
Intellectual disability-balding-patella luxation-acromicria syndrome
Malformation syndrome
63442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442
Angel-shaped phalango-epiphyseal dysplasia
Malformation syndrome
63446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446
Acrocapitofemoral dysplasia
Malformation syndrome
85168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168
Craniofacial conodysplasia
Malformation syndrome
88630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630
Terminal osseous dysplasia-pigmentary defects syndrome
Malformation syndrome
324764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764
Trichorhinophalangeal syndrome
Clinical group
502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502
Trichorhinophalangeal syndrome type 2
Malformation syndrome
77258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258
Trichorhinophalangeal syndrome type 1
Malformation syndrome
3449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Weill-Marchesani syndrome
Malformation syndrome
2588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588
Myhre syndrome
Malformation syndrome
93437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437
Acromesomelic dysplasia
Clinical group
968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968
Acromesomelic dysplasia, Hunter-Thompson type
Malformation syndrome
40
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40
Acromesomelic dysplasia, Maroteaux type
Malformation syndrome
2098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098
Acromesomelic dysplasia, Grebe type
Malformation syndrome
2496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496
Mesomelia-synostoses syndrome
Malformation syndrome
2639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639
Fibular aplasia-complex brachydactyly syndrome
Malformation syndrome
93382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382
Brachydactyly type A6
Malformation syndrome
93438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438
Mesomelic and rhizo-mesomelic dysplasia
Clinical group
240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240
Léri-Weill dyschondrosteosis
Malformation syndrome
1453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453
Cleidorhizomelic syndrome
Malformation syndrome
1765
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765
Dyschondrosteosis-nephritis syndrome
Malformation syndrome
1836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836
Mesomelic dysplasia, Kantaputra type
Malformation syndrome
2021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021
Fibrochondrogenesis
Disease
2497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497
Upper limb mesomelic dysplasia
Malformation syndrome
2631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Malformation syndrome
2632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632
Langer mesomelic dysplasia
Malformation syndrome
2633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633
Mesomelic dysplasia, Nievergelt type
Malformation syndrome
2634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Malformation syndrome
2733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733
Omodysplasia
Malformation syndrome
93328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328
Autosomal dominant omodysplasia
Clinical subtype
93329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329
Autosomal recessive omodysplasia
Clinical subtype
3098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098
Rhizomelic syndrome, Urbach type
Malformation syndrome
2831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831
Rhizomelic dysplasia, Patterson-Lowry type
Malformation syndrome
56304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304
Atelosteogenesis type II
Malformation syndrome
85170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170
Mesomelic dysplasia, Savarirayan type
Malformation syndrome
97360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360
Robinow syndrome
Malformation syndrome
1507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507
Autosomal recessive Robinow syndrome
Clinical subtype
3107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107
Autosomal dominant Robinow syndrome
Clinical subtype
314795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795
SHOX-related short stature
Disease
397623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Malformation syndrome
424099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Malformation syndrome
440354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Malformation syndrome
163966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Disease
611223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223
EN1-related dorsoventral syndrome
Malformation syndrome
580940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940
QRICH1-related intellectual disability-chondrodysplasia syndrome
Malformation syndrome
632603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Malformation syndrome
93439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439
Campomelic dysplasia and related disorders
Clinical group
656283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Disease
140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140
Campomelic dysplasia
Malformation syndrome
1318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318
Campomelia, Cumming type
Malformation syndrome
1801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801
Kyphomelic dysplasia
Malformation syndrome
2646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2646
Parastremmatic dwarfism
Malformation syndrome
2768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768
Blount disease
Malformation syndrome
3344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344
Weismann-Netter syndrome
Malformation syndrome
3206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206
Stüve-Wiedemann syndrome
Malformation syndrome
313855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855
FGFR2-related bent bone dysplasia
Disease
324307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
Malformation syndrome
93440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440
Slender bone dysplasia
Clinical group
2333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333
Kenny-Caffey syndrome
Malformation syndrome
93324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324
Autosomal recessive Kenny-Caffey syndrome
Etiological subtype
93325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325
Autosomal dominant Kenny-Caffey syndrome
Etiological subtype
2616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616
3M syndrome
Malformation syndrome
2763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763
Osteocraniostenosis
Malformation syndrome
85173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173
IMAGe syndrome
Malformation syndrome
314394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Disease
2554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554
Ear-patella-short stature syndrome
Malformation syndrome
1506
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506
Thin ribs-tubular bones-dysmorphism syndrome
Malformation syndrome
2108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108
Hallermann-Streiff syndrome
Malformation syndrome
808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808
Seckel syndrome
Malformation syndrome
2643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643
Microcephalic primordial dwarfism, Toriello type
Malformation syndrome
2637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637
Microcephalic osteodysplastic primordial dwarfism type II
Malformation syndrome
50811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Lipodystrophy-intellectual disability-deafness syndrome
Disease
2636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636
Microcephalic osteodysplastic primordial dwarfism types I and III
Malformation syndrome
85172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Disease
2109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109
Hallermann-Streiff-like syndrome
Malformation syndrome
572761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Malformation syndrome
572768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768
Microcephaly-micromelia syndrome
Clinical subtype
572773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773
Microcephaly-short stature-limb abnormalities syndrome
Clinical subtype
93441
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441
Primary bone dysplasia with multiple joint dislocations
Clinical group
2370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370
Larsen-like osseous dysplasia-short stature syndrome
Malformation syndrome
1190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190
Atelosteogenesis type I
Malformation syndrome
114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114
Auriculoosteodysplasia
Malformation syndrome
1263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263
Boomerang dysplasia
Disease
1425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425
Desbuquois syndrome
Malformation syndrome
1508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508
Coxoauricular syndrome
Malformation syndrome
2371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371
Lethal Larsen-like syndrome
Malformation syndrome
503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503
Larsen syndrome
Malformation syndrome
56305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305
Atelosteogenesis type III
Malformation syndrome
85174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174
Pseudodiastrophic dysplasia
Malformation syndrome
263463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463
CHST3-related skeletal dysplasia
Disease
280586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586
Chondrodysplasia with joint dislocations, gPAPP type
Malformation syndrome
284139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139
Larsen-like syndrome, B3GAT3 type
Malformation syndrome
438117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117
Steel syndrome
Disease
93360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Disease
527450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450
Severe myopia-generalized joint laxity-short stature syndrome
Malformation syndrome
589442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Malformation syndrome
642099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Disease
642085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085
Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type
Disease
93442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442
Chondrodysplasia punctata
Clinical group
1426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426
Greenberg dysplasia
Disease
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177
Rhizomelic chondrodysplasia punctata
Disease
309803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803
Rhizomelic chondrodysplasia punctata type 3
Etiological subtype
309789
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789
Rhizomelic chondrodysplasia punctata type 1
Etiological subtype
309796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796
Rhizomelic chondrodysplasia punctata type 2
Etiological subtype
468717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717
Rhizomelic chondrodysplasia punctata type 5
Etiological subtype
176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176
Non-rhizomelic chondrodysplasia punctata
Clinical group
35173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173
X-linked dominant chondrodysplasia punctata
Disease
79345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345
Brachytelephalangic chondrodysplasia punctata
Malformation syndrome
79346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346
Chondrodysplasia punctata, tibial-metacarpal type
Malformation syndrome
79347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347
Chondrodysplasia punctata, Toriello type
Malformation syndrome
85175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175
Astley-Kendall dysplasia
Malformation syndrome
85202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202
Keutel syndrome
Malformation syndrome
93444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444
Primary bone dysplasia with increased bone density
Category
52430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Disease
2801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801
Juvenile Paget disease
Malformation syndrome
1328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328
Camurati-Engelmann disease
Malformation syndrome
1513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513
Craniodiaphyseal dysplasia
Malformation syndrome
1522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522
Craniometaphyseal dysplasia
Malformation syndrome
1562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1562
Dacryocystitis-osteopoikilosis syndrome
Malformation syndrome
1798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798
Dysostosis, Stanescu type
Malformation syndrome
1802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802
Ghosal hematodiaphyseal dysplasia
Malformation syndrome
2658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658
Lenz-Majewski hyperostotic dwarfism
Malformation syndrome
2710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Oculodentodigital dysplasia
Malformation syndrome
2779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Malformation syndrome
2790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790
Endosteal hyperostosis, Worth type
Malformation syndrome
3005
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005
Pyle disease
Disease
3152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152
Sclerosteosis
Malformation syndrome
3352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352
Tricho-dento-osseous syndrome
Malformation syndrome
3416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416
Hyperostosis corticalis generalisata
Malformation syndrome
646139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139
Dysplastic cortical hyperostosis
Malformation syndrome
2204
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Clinical subtype
646136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136
Dysplastic cortical hyperostosis, Al-Gazali type
Clinical subtype
2781
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781
Osteopetrosis and related disorders
Clinical group
94063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063
12q14 microdeletion syndrome
Malformation syndrome
166119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119
Isolated osteopoikilosis
Disease
178389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389
Osteopetrosis-hypogammaglobulinemia syndrome
Disease
210110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110
Intermediate osteopetrosis
Malformation syndrome
53
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53
Albers-Schönberg osteopetrosis
Malformation syndrome
2785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785
Osteopetrosis with renal tubular acidosis
Disease
763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763
Pycnodysostosis
Disease
1782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782
Dysosteosclerosis
Malformation syndrome
1879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879
Melorheostosis with osteopoikilosis
Malformation syndrome
2485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485
Melorheostosis
Malformation syndrome
2777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777
Osteomesopyknosis
Malformation syndrome
2780
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780
Osteopathia striata-cranial sclerosis syndrome
Malformation syndrome
667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667
Autosomal recessive malignant osteopetrosis
Malformation syndrome
2783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783
Autosomal dominant osteopetrosis type 1
Malformation syndrome
69088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease
85179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179
Infantile osteopetrosis with neuroaxonal dysplasia
Malformation syndrome
99844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844
Leukocyte adhesion deficiency type III
Clinical subtype
500548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548
Osteosclerotic metaphyseal dysplasia
Malformation syndrome
556985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Disease
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
75325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Disease
85182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182
Diaphyseal medullary stenosis-bone malignancy syndrome
Disease
85184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184
Craniometadiaphyseal dysplasia, wormian bone type
Malformation syndrome
85186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186
Endosteal sclerosis-cerebellar hypoplasia syndrome
Malformation syndrome
85188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188
Metaphyseal dysplasia, Braun-Tinschert type
Malformation syndrome
93443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443
Neonatal osteosclerotic dysplasia
Clinical group
1310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310
Caffey disease
Malformation syndrome
1832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832
Lethal osteosclerotic bone dysplasia
Malformation syndrome
35107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107
Desmosterolosis
Disease
50945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945
Blomstrand lethal chondrodysplasia
Malformation syndrome
248095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095
Primary hypertrophic osteoarthropathy
Clinical group
1525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525
Cranio-osteoarthropathy
Malformation syndrome
2796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796
Pachydermoperiostosis
Malformation syndrome
314029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029
High bone mass osteogenesis imperfecta
Disease
324364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Disease
391327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327
X-linked calvarial hyperostosis
Disease
443098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098
Hyperostosis cranialis interna
Disease
329475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475
Spastic paraplegia-Paget disease of bone syndrome
Disease
93446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446
Primary bone dysplasia with decreased bone density
Category
2771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771
Bruck syndrome
Malformation syndrome
2772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Malformation syndrome
2773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Malformation syndrome
666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666
Osteogenesis imperfecta
Disease
216796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796
Osteogenesis imperfecta type 1
Clinical subtype
216804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804
Osteogenesis imperfecta type 2
Clinical subtype
216812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812
Osteogenesis imperfecta type 3
Clinical subtype
216820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820
Osteogenesis imperfecta type 4
Clinical subtype
216828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828
Osteogenesis imperfecta type 5
Clinical subtype
2050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050
Cole-Carpenter syndrome
Malformation syndrome
2078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078
Geroderma osteodysplastica
Malformation syndrome
2097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097
Grant syndrome
Malformation syndrome
2324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324
Osteopenia-intellectual disability-sparse hair syndrome
Malformation syndrome
2786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786
Osteoporosis-oculocutaneous hypopigmentation syndrome
Malformation syndrome
2787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2787
Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
Malformation syndrome
2788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788
Osteoporosis-pseudoglioma syndrome
Disease
457378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378
Complex lethal osteochondrodysplasia
Malformation syndrome
53697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697
Gnathodiaphyseal dysplasia
Malformation syndrome
85191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191
Singleton-Merten dysplasia
Malformation syndrome
85192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192
Calvarial doughnut lesions-bone fragility syndrome
Malformation syndrome
85193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193
Idiopathic juvenile osteoporosis
Malformation syndrome
85194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194
Spondylo-ocular syndrome
Malformation syndrome
90350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350
Autosomal recessive cutis laxa type 2
Clinical group
357058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058
Autosomal recessive cutis laxa type 2A
Disease
2834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Wrinkly skin syndrome
Clinical subtype
357074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074
Autosomal recessive cutis laxa type 2, classic type
Clinical subtype
357064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064
Autosomal recessive cutis laxa type 2B
Disease
166277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Malformation syndrome
230857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857
Ehlers-Danlos/osteogenesis imperfecta syndrome
Disease
314667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667
TMEM165-CDG
Disease
319195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195
Chondroectodermal dysplasia with night blindness
Disease
391330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330
X-linked osteoporosis with fractures
Disease
498481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481
LRP5-related primary osteoporosis
Malformation syndrome
536467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
536532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532
Classical-like Ehlers-Danlos syndrome type 2
Disease
93447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447
Primary bone dysplasia with defective bone mineralization
Category
557003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003
Oculoskeletodental syndrome
Disease
436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436
Hypophosphatasia
Disease
247623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623
Perinatal lethal hypophosphatasia
Clinical subtype
247638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638
Prenatal benign hypophosphatasia
Clinical subtype
247651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651
Infantile hypophosphatasia
Clinical subtype
247667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667
Childhood-onset hypophosphatasia
Clinical subtype
247676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676
Adult hypophosphatasia
Clinical subtype
247685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685
Odontohypophosphatasia
Clinical subtype
417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417
Neonatal severe primary hyperparathyroidism
Disease
405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405
Familial hypocalciuric hypercalcemia
Disease
93372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372
Familial hypocalciuric hypercalcemia type 1
Etiological subtype
101049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049
Familial hypocalciuric hypercalcemia type 2
Etiological subtype
101050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050
Familial hypocalciuric hypercalcemia type 3
Etiological subtype
50811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Lipodystrophy-intellectual disability-deafness syndrome
Disease
73230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230
Ossification anomalies-psychomotor developmental delay syndrome
Disease
79106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106
Eiken syndrome
Malformation syndrome
289098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098
Disorders of vitamin D metabolism
Category
437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437
Hypophosphatemic rickets
Clinical group
1652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652
Dent disease
Disease
93622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622
Dent disease type 1
Clinical subtype
93623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623
Dent disease type 2
Clinical subtype
244305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Disease
89936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936
X-linked hypophosphatemia
Disease
89937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937
Autosomal dominant hypophosphatemic rickets
Disease
157215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215
Hereditary hypophosphatemic rickets with hypercalciuria
Disease
289176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176
Autosomal recessive hypophosphatemic rickets
Disease
289103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103
Hypocalcemic rickets
Clinical group
93160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160
Hypocalcemic vitamin D-resistant rickets
Disease
289157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157
Hypocalcemic vitamin D-dependent rickets
Disease
1416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416
Familial calcium pyrophosphate deposition
Disease
93449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93449
Primary osteolysis
Category
647667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667
Mandibuloacral dysplasia associated to MTX2
Malformation syndrome
498474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474
Hyaline fibromatosis syndrome
Disease
2028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028
Juvenile hyaline fibromatosis
Clinical subtype
2176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176
Infantile systemic hyalinosis
Clinical subtype
955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955
Hajdu-Cheney syndrome
Malformation syndrome
1952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Malformation syndrome
2457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457
Mandibuloacral dysplasia
Malformation syndrome
90153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153
Mandibuloacral dysplasia with type A lipodystrophy
Clinical subtype
90154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154
Mandibuloacral dysplasia with type B lipodystrophy
Clinical subtype
2774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774
Multicentric carpo-tarsal osteolysis with or without nephropathy
Malformation syndrome
2776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776
Autosomal recessive distal osteolysis syndrome
Malformation syndrome
740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740
Hutchinson-Gilford progeria syndrome
Disease
50809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809
Talo-patello-scaphoid osteolysis
Malformation syndrome
85195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195
Familial expansile osteolysis
Disease
280576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576
Nestor-Guillermo progeria syndrome
Malformation syndrome
352636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636
Phalangeal microgeodic syndrome
Disease
371428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428
Multicentric osteolysis-nodulosis-arthropathy spectrum
Disease
93450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93450
Primary bone dysplasia with disorganized development of skeletal components
Category
73
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73
Gorham-Stout disease
Malformation syndrome
636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636
Neurofibromatosis type 1
Disease
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
363700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Etiological subtype
337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337
Fibrodysplasia ossificans progressiva
Disease
2762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762
Progressive osseous heteroplasia
Malformation syndrome
595216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595216
Fibrous dysplasia/McCune-Albright syndrome
Clinical group
562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562
McCune-Albright syndrome
Disease
249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249
Fibrous dysplasia of bone
Malformation syndrome
93277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277
Monostotic fibrous dysplasia
Clinical subtype
93276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276
Polyostotic fibrous dysplasia
Clinical subtype
184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184
Cherubism
Malformation syndrome
1822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822
Dysplasia epiphysealis hemimelica
Malformation syndrome
1962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962
Exostoses-anetodermia-brachydactyly type E syndrome
Malformation syndrome
296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296
Ollier disease
Disease
2499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499
Metachondromatosis
Malformation syndrome
2645
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645
Osteoglosphonic dysplasia
Malformation syndrome
2767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767
Carpotarsal osteochondromatosis
Malformation syndrome
2867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867
Short stature, Brussels type
Malformation syndrome
3019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019
Ramon syndrome
Malformation syndrome
3408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408
Upington disease
Malformation syndrome
2770
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770
Nasu-Hakola disease
Malformation syndrome
321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321
Multiple osteochondromas
Disease
52430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Disease
53697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697
Gnathodiaphyseal dysplasia
Malformation syndrome
57782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782
Mazabraud syndrome
Malformation syndrome
85197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197
Genochondromatosis type 1
Disease
85198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198
Dysspondyloenchondromatosis
Malformation syndrome
93398
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398
Genochondromatosis type 2
Disease
99646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Disease
99647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99647
Cheirospondyloenchondromatosis
Disease
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
329475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475
Spastic paraplegia-Paget disease of bone syndrome
Disease
93451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93451
Cleidocranial dysplasia and isolated cranial ossification defect
Category
251290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290
Parietal foramina with clavicular hypoplasia
Malformation syndrome
1452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452
Cleidocranial dysplasia
Malformation syndrome
3034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034
Delayed membranous cranial ossification
Malformation syndrome
3472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472
Yunis-Varon syndrome
Malformation syndrome
60015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015
Enlarged parietal foramina
Malformation syndrome
85199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199
Craniosynostosis-anal anomalies-porokeratosis syndrome
Malformation syndrome
93465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93465
Lethal chondrodysplasia
Category
1842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842
Bone dysplasia, lethal Holmgren type
Malformation syndrome
2347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347
Lethal Kniest-like dysplasia
Malformation syndrome
3003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003
Pyknoachondrogenesis
Malformation syndrome
1423
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423
Lethal recessive chondrodysplasia
Malformation syndrome
364531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364531
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Category
337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337
Fibrodysplasia ossificans progressiva
Disease
2762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762
Progressive osseous heteroplasia
Malformation syndrome
364559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364559
Dysostosis
Category
1531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531
Craniosynostosis
Category
139390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390
Non-syndromic craniosynostosis
Clinical group
620096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620096
Non-syndromic unisutural craniosynostosis
Clinical group
620102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102
Non-syndromic unicoronal craniosynostosis
Morphological anomaly
620113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113
Non-syndromic unilambdoid craniosynostosis
Morphological anomaly
620139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139
Non-syndromic unifrontosphenoidal craniosynostosis
Morphological anomaly
620146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146
Non-syndromic unisquamosal craniosynostosis
Morphological anomaly
3366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366
Non-syndromic metopic craniosynostosis
Morphological anomaly
35093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093
Non-syndromic sagittal craniosynostosis
Morphological anomaly
620152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620152
Non-syndromic multisutural craniosynostosis
Clinical group
620158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158
Non-syndromic non-specific multisutural craniosynostosis
Morphological anomaly
620178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178
Non-syndromic bilambdoid craniosynostosis
Morphological anomaly
620186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186
Non-syndromic unicoronal and sagittal craniosynostosis
Morphological anomaly
620192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192
Non-syndromic metopic and sagittal craniosynostosis
Morphological anomaly
620198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198
Non-syndromic bicoronal and metopic craniosynostosis
Morphological anomaly
620205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205
Non-syndromic bicoronal and sagittal craniosynostosis
Morphological anomaly
620212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212
Non-syndromic pansynostosis
Morphological anomaly
35099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099
Non-syndromic bicoronal craniosynostosis
Morphological anomaly
1516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516
Non-syndromic bilambdoid and sagittal craniosynostosis
Malformation syndrome
139393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393
Syndromic craniosynostosis
Category
207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207
Crouzon syndrome
Malformation syndrome
1308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308
C syndrome
Malformation syndrome
87
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87
Apert syndrome
Malformation syndrome
83
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83
Antley-Bixler syndrome
Malformation syndrome
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
596008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Clinical subtype
1225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225
Baller-Gerold syndrome
Malformation syndrome
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
1527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527
Craniosynostosis, Philadelphia type
Malformation syndrome
1528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528
Craniotelencephalic dysplasia
Malformation syndrome
1540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540
Jackson-Weiss syndrome
Malformation syndrome
1553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553
Curry-Jones syndrome
Malformation syndrome
1555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Malformation syndrome
2145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145
Craniosynostosis, Herrmann-Opitz type
Malformation syndrome
2163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163
Holoprosencephaly-craniosynostosis syndrome
Malformation syndrome
2409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409
Lowry-MacLean syndrome
Malformation syndrome
2462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462
Shprintzen-Goldberg syndrome
Malformation syndrome
2872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872
Cardiocranial syndrome, Pfeiffer type
Malformation syndrome
3134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134
SCARF syndrome
Malformation syndrome
313855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855
FGFR2-related bent bone dysplasia
Disease
3365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365
Trigonocephaly-broad thumbs syndrome
Malformation syndrome
3369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369
Trigonocephaly-short stature-developmental delay syndrome
Malformation syndrome
2898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898
X-linked intellectual disability-plagiocephaly syndrome
Malformation syndrome
1541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541
Craniosynostosis, Boston type
Malformation syndrome
1524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524
Craniomicromelic syndrome
Malformation syndrome
52054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054
Craniosynostosis-intracranial calcifications syndrome
Malformation syndrome
53271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271
Muenke syndrome
Malformation syndrome
247651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651
Infantile hypophosphatasia
Clinical subtype
85199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199
Craniosynostosis-anal anomalies-porokeratosis syndrome
Malformation syndrome
93262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262
Crouzon syndrome-acanthosis nigricans syndrome
Malformation syndrome
93267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267
Cloverleaf skull-multiple congenital anomalies syndrome
Malformation syndrome
247638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638
Prenatal benign hypophosphatasia
Clinical subtype
100978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Malformation syndrome
169163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163
Familial scaphocephaly syndrome
Category
1538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Malformation syndrome
168624
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624
Familial scaphocephaly syndrome, McGillivray type
Malformation syndrome
171839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Malformation syndrome
178377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377
Osteosclerosis-developmental delay-craniosynostosis syndrome
Malformation syndrome
221054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054
Acrocephalopolydactyly
Malformation syndrome
284149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149
Craniosynostosis-dental anomalies
Malformation syndrome
293925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925
Lethal occipital encephalocele-skeletal dysplasia syndrome
Malformation syndrome
247667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667
Childhood-onset hypophosphatasia
Clinical subtype
293843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843
3MC syndrome
Malformation syndrome
3210
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3210
Summitt syndrome
Malformation syndrome
79213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213
Mucopolysaccharidosis
Category
583
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583
Mucopolysaccharidosis type 6
Disease
276212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212
Mucopolysaccharidosis type 6, rapidly progressing
Clinical subtype
276223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223
Mucopolysaccharidosis type 6, slowly progressing
Clinical subtype
584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584
Mucopolysaccharidosis type 7
Disease
580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580
Mucopolysaccharidosis type 2
Disease
217085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085
Mucopolysaccharidosis type 2, severe form
Clinical subtype
217093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093
Mucopolysaccharidosis type 2, attenuated form
Clinical subtype
579
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579
Mucopolysaccharidosis type 1
Disease
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
93474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474
Scheie syndrome
Clinical subtype
93476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476
Hurler-Scheie syndrome
Clinical subtype
581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581
Mucopolysaccharidosis type 3
Disease
79269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269
Sanfilippo syndrome type A
Etiological subtype
79270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270
Sanfilippo syndrome type B
Etiological subtype
79271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271
Sanfilippo syndrome type C
Etiological subtype
79272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272
Sanfilippo syndrome type D
Etiological subtype
582
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582
Mucopolysaccharidosis type 4
Disease
309310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310
Mucopolysaccharidosis type 4B
Clinical subtype
309297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297
Mucopolysaccharidosis type 4A
Clinical subtype
67041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041
Hyaluronidase deficiency
Disease
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
2645
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645
Osteoglosphonic dysplasia
Malformation syndrome
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
3270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Radioulnar synostosis-developmental delay-hypotonia syndrome
Malformation syndrome
369837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Malformation syndrome
1520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Craniofrontonasal dysplasia
Malformation syndrome
65759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759
Carpenter syndrome
Malformation syndrome
65798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65798
Goodman syndrome
Malformation syndrome
2655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655
Thanatophoric dysplasia
Disease
1860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860
Thanatophoric dysplasia type 1
Clinical subtype
93274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274
Thanatophoric dysplasia type 2
Clinical subtype
763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763
Pycnodysostosis
Disease
1465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
Coffin-Siris syndrome
Malformation syndrome
36
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Acrocallosal syndrome
Malformation syndrome
235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Dubowitz syndrome
Malformation syndrome
647681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681
Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Malformation syndrome
565858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Malformation syndrome
2332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332
KBG syndrome
Malformation syndrome
96169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169
Koolen-De Vries syndrome
Malformation syndrome
363958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958
17q21.31 microdeletion syndrome
Etiological subtype
363965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965
Koolen-De Vries syndrome due to a point mutation
Etiological subtype
97297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297
Bohring-Opitz syndrome
Malformation syndrome
1906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906
Fetal valproate spectrum disorder
Malformation syndrome
710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710
Pfeiffer syndrome
Malformation syndrome
93258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258
Pfeiffer syndrome type 1
Clinical subtype
93259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259
Pfeiffer syndrome type 2
Clinical subtype
93260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260
Pfeiffer syndrome type 3
Clinical subtype
794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794
Saethre-Chotzen syndrome
Malformation syndrome
66630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630
Congenital pseudoarthrosis of the clavicle
Disease
93453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93453
Dysostosis with predominant craniofacial involvement
Category
1517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517
Cantú syndrome
Malformation syndrome
1794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794
Oculomaxillofacial dysostosis
Malformation syndrome
250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250
Frontonasal dysplasia
Clinical group
1519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519
SPECC1L-related hypertelorism syndrome
Malformation syndrome
1520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Craniofrontonasal dysplasia
Malformation syndrome
1521
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521
Craniofrontonasal dysplasia-Poland anomaly syndrome
Malformation syndrome
1993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993
Pai syndrome
Malformation syndrome
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
1827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827
Acromelic frontonasal dysplasia
Malformation syndrome
228390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Malformation syndrome
306542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Malformation syndrome
391474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474
Frontorhiny
Malformation syndrome
398156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156
Oculoauriculofrontonasal syndrome
Malformation syndrome
488437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437
SIX2-related frontonasal dysplasia
Malformation syndrome
157832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832
Craniorhiny
Malformation syndrome
521308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Malformation syndrome
2549
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549
Oculoauriculovertebral spectrum with radial defects
Malformation syndrome
2769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769
Familial osteodysplasia, Anderson type
Malformation syndrome
3291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291
Teebi-Shaltout syndrome
Malformation syndrome
363705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705
Craniofaciofrontodigital syndrome
Disease
155896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896
Otomandibular dysplasia
Category
137888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888
Auriculocondylar syndrome
Malformation syndrome
141132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132
Oculo-auriculo-vertebral spectrum
Malformation syndrome
155899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899
Mandibulofacial dysostosis
Clinical group
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950
Acrodysostosis
Malformation syndrome
357158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Disease
443995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995
Mandibulofacial dysostosis with alopecia
Malformation syndrome
156202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202
Otomandibular dysplasia associated with monogenic syndromes
Category
1296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296
Lambert syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
140997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Orofaciodigital syndrome
Clinical group
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
141000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Orofaciodigital syndrome type 11
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
141327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Orofaciodigital syndrome type 12
Malformation syndrome
141330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Orofaciodigital syndrome type 13
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
508501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501
Oral-facial-digital syndrome with short stature and brachymesophalangy
Malformation syndrome
459061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Malformation syndrome
314555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Malformation syndrome
3262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262
Dobrow syndrome
Malformation syndrome
93454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93454
Dysostosis with predominant vertebral and costal involvement
Category
2311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311
Autosomal recessive spondylocostal dysostosis
Malformation syndrome
1552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552
Currarino syndrome
Malformation syndrome
1393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393
Cerebrocostomandibular syndrome
Malformation syndrome
1394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394
Cerebrofaciothoracic dysplasia
Malformation syndrome
2206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206
Ankylosing vertebral hyperostosis with tylosis
Malformation syndrome
2482
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482
Melhem-Fahl syndrome
Malformation syndrome
2759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759
Imperforate oropharynx-costovertebral anomalies syndrome
Malformation syndrome
2840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Malformation syndrome
1797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797
Autosomal dominant spondylocostal dysostosis
Malformation syndrome
3456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456
Wildervanck syndrome
Malformation syndrome
2062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062
Progressive non-infectious anterior vertebral fusion
Malformation syndrome
2345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345
Isolated Klippel-Feil syndrome
Malformation syndrome
66637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637
Diaphanospondylodysostosis
Malformation syndrome
85164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Disease
85200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85200
Ischiovertebral syndrome
Malformation syndrome
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-CDG
Disease
329191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191
Tall stature-long halluces-multiple extra-epiphyses syndrome
Disease
50817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50817
Duane anomaly-myopathy-scoliosis syndrome
Disease
447974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Malformation syndrome
505248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Malformation syndrome
453499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Malformation syndrome
352665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Etiological subtype
453504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Etiological subtype
93455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93455
Patellar dysostosis
Category
2614
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614
Nail-patella syndrome
Malformation syndrome
1509
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509
Coxopodopatellar syndrome
Disease
2554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554
Ear-patella-short stature syndrome
Malformation syndrome
86789
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789
Patella aplasia/hypoplasia
Morphological anomaly
293150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150
Familial clubfoot due to PITX1 point mutation
Etiological subtype
597749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749
KAT6B-related multiple congenital anomalies syndrome
Clinical group
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
85201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201
Genitopatellar syndrome
Malformation syndrome
597746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Malformation syndrome
364568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364568
Dysostosis with limb anomaly as a major feature
Category
488434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434
Camptodactyly syndrome, Guadalajara type 3
Malformation syndrome
3292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292
Tel Hashomer camptodactyly syndrome
Malformation syndrome
498477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498477
Ectrodactyly with and without other manifestations
Category
1897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897
EEM syndrome
Malformation syndrome
69085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085
Limb-mammary syndrome
Malformation syndrome
1118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118
Fibular aplasia-ectrodactyly syndrome
Malformation syndrome
1892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892
Ectrodactyly-polydactyly syndrome
Malformation syndrome
1406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406
Charlie M syndrome
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
ADULT syndrome
Malformation syndrome
2440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440
Isolated split hand-split foot malformation
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
2878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Malformation syndrome
2117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117
Hartsfield syndrome
Malformation syndrome
2439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439
Patterson-Stevenson-Fontaine syndrome
Malformation syndrome
69028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028
Dysostosis with brachydactyly
Category
498451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498451
Dysostosis with brachydactyly without extraskeletal manifestations
Category
1570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570
Symbrachydactyly of hands and feet
Malformation syndrome
633211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211
Preaxial digit brachydactyly-webbed fingers
Malformation syndrome
93396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396
Brachydactyly type A2
Malformation syndrome
93394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394
Brachydactyly type A4
Malformation syndrome
93382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382
Brachydactyly type A6
Malformation syndrome
93397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397
Brachydactyly type A7
Malformation syndrome
498602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602
Sugarman brachydactyly
Morphological anomaly
2565
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565
Mononen-Karnes-Senac syndrome
Malformation syndrome
85169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169
Familial digital arthropathy-brachydactyly
Malformation syndrome
1275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275
Brachydactyly-elbow wrist dysplasia syndrome
Malformation syndrome
93388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388
Brachydactyly type A1
Malformation syndrome
93383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383
Brachydactyly type B
Malformation syndrome
140908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908
Brachydactyly type B2
Clinical subtype
572385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385
Brachydactyly type B1
Clinical subtype
93384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384
Brachydactyly type C
Malformation syndrome
93387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387
Brachydactyly type E
Malformation syndrome
1487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487
Cooks syndrome
Malformation syndrome
1319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319
Camptobrachydactyly
Malformation syndrome
498454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498454
Dysostosis with brachydactyly with extraskeletal manifestations
Category
589608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Disease
166035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035
Brachydactyly-short stature-retinitis pigmentosa syndrome
Malformation syndrome
364577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577
Intellectual disability-brachydactyly-Pierre Robin syndrome
Malformation syndrome
444077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Malformation syndrome
1001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001
2q37 microdeletion syndrome
Malformation syndrome
247262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262
Hyperphosphatasia-intellectual disability syndrome
Disease
1276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276
Brachydactyly-arterial hypertension syndrome
Malformation syndrome
363417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417
Temtamy preaxial brachydactyly syndrome
Malformation syndrome
1465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
Coffin-Siris syndrome
Malformation syndrome
3433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Malformation syndrome
1078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078
Thumb stiffness-brachydactyly-intellectual disability syndrome
Malformation syndrome
1278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278
Brachydactyly-preaxial hallux varus syndrome
Malformation syndrome
2956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956
Acrodysplasia scoliosis
Malformation syndrome
1292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292
Brachymorphism-onychodysplasia-dysphalangism syndrome
Malformation syndrome
1858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858
Skeletal dysplasia-epilepsy-short stature syndrome
Malformation syndrome
2946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946
Brachydactyly-long thumb syndrome
Malformation syndrome
52056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056
Ulnar/fibula ray defect-brachydactyly syndrome
Malformation syndrome
1305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Feingold syndrome
Malformation syndrome
391641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641
Feingold syndrome type 1
Clinical subtype
391646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646
Feingold syndrome type 2
Clinical subtype
2438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438
Hand-foot-genital syndrome
Malformation syndrome
1295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295
Brachytelephalangy-dysmorphism-Kallmann syndrome
Malformation syndrome
2911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911
Poland syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
93457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457
Non-syndromic limb reduction defect
Category
498457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498457
Longitudinal limb defect
Category
2130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130
Hemimelia
Clinical group
93320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320
Ulnar hemimelia
Morphological anomaly
93321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321
Radial hemimelia
Morphological anomaly
93322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322
Tibial hemimelia
Morphological anomaly
93323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323
Fibular hemimelia
Morphological anomaly
294988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988
Congenital hypoplasia of thumb
Morphological anomaly
498461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498461
Terminal transverse limb defect
Category
294925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925
Amelia
Clinical group
294967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967
Amelia of upper limb
Morphological anomaly
294969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969
Amelia of lower limb
Morphological anomaly
294971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971
Tetra-amelia
Morphological anomaly
973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Morphological anomaly
295000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000
Constriction rings syndrome
Malformation syndrome
498491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491
Complete hemimelia
Category
294981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981
Congenital absence of both lower leg and foot
Morphological anomaly
294979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979
Congenital absence of both forearm and hand
Morphological anomaly
294983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983
Acheiria
Morphological anomaly
294986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986
Apodia
Morphological anomaly
931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931
Acheiropodia
Morphological anomaly
294927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927
Intercalary limb defects
Clinical group
294973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973
Humeral agenesis/hypoplasia
Morphological anomaly
294975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975
Congenital absence of upper arm and forearm with hand present
Morphological anomaly
294977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977
Congenital absence of thigh and lower leg with foot present
Morphological anomaly
1987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987
Femoral agenesis/hypoplasia
Malformation syndrome
633228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228
Proximal femoral focal deficiency
Morphological anomaly
93458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458
Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Category
2913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913
Non-syndromic polydactyly
Category
498464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498464
Non-syndromic preaxial polydactyly
Category
93336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336
Polydactyly of a triphalangeal thumb
Morphological anomaly
93337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337
Polydactyly of an index finger
Morphological anomaly
93338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338
Polysyndactyly
Morphological anomaly
93339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339
Polydactyly of a biphalangeal thumb and/or hallux
Morphological anomaly
498467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498467
Non-syndromic postaxial polydactyly
Category
93334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334
Postaxial polydactyly type A
Morphological anomaly
93335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335
Postaxial polydactyly type B
Morphological anomaly
498470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498470
Non-syndromic complex polydactyly
Category
295004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004
Central polydactyly
Morphological anomaly
498494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494
Mirror-image polydactyly
Morphological anomaly
90025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025
Non-syndromic syndactyly
Category
2498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498
Syndactyly type 8
Morphological anomaly
93402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402
Syndactyly type 1
Morphological anomaly
295187
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187
Zygodactyly type 1
Clinical subtype
295189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189
Zygodactyly type 2
Clinical subtype
295191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191
Zygodactyly type 3
Clinical subtype
295193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193
Zygodactyly type 4
Clinical subtype
93403
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403
Syndactyly type 2
Morphological anomaly
295195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195
Synpolydactyly type 1
Clinical subtype
295197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197
Synpolydactyly type 2
Clinical subtype
295199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199
Synpolydactyly type 3
Clinical subtype
93404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404
Syndactyly type 3
Morphological anomaly
93405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405
Syndactyly type 4
Morphological anomaly
93406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406
Syndactyly type 5
Morphological anomaly
157801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801
Mesoaxial synostotic syndactyly with phalangeal reduction
Morphological anomaly
295012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012
Syndactyly type 6
Morphological anomaly
295002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002
Hyperphalangy
Morphological anomaly
93459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459
Syndrome with synostosis or other joint formation defect
Category
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
1228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228
Banki syndrome
Malformation syndrome
1275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275
Brachydactyly-elbow wrist dysplasia syndrome
Malformation syndrome
1412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412
Tarsal-carpal coalition syndrome
Malformation syndrome
2760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760
OSLAM syndrome
Malformation syndrome
2900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900
Leri pleonosteosis
Malformation syndrome
3237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237
Multiple synostoses syndrome
Malformation syndrome
3246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246
Symphalangism with multiple anomalies of hands and feet
Malformation syndrome
3250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250
Proximal symphalangism
Malformation syndrome
3268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268
Radioulnar synostosis-microcephaly-scoliosis syndrome
Malformation syndrome
3270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Radioulnar synostosis-developmental delay-hypotonia syndrome
Malformation syndrome
71289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Malformation syndrome
3466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466
WT limb-blood syndrome
Disease
157808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808
Congenital pseudoarthrosis of the limbs
Morphological anomaly
295018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018
Congenital pseudoarthrosis of the tibia
Clinical subtype
295020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020
Congenital pseudoarthrosis of the femur
Clinical subtype
295022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022
Congenital pseudoarthrosis of the fibula
Clinical subtype
295024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024
Congenital pseudoarthrosis of the radius
Clinical subtype
295026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026
Congenital pseudoarthrosis of the ulna
Clinical subtype
199315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315
Familial clubfoot with or without associated lower limb anomalies
Malformation syndrome
238578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578
Familial clubfoot due to 17q23.1q23.2 microduplication
Etiological subtype
293144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144
Familial clubfoot due to 5q31 microdeletion
Etiological subtype
293150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150
Familial clubfoot due to PITX1 point mutation
Etiological subtype
228184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184
Heart-hand syndrome
Category
392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Holt-Oram syndrome
Malformation syndrome
1342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342
Heart-hand syndrome type 3
Malformation syndrome
1350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350
Heart-hand syndrome type 2
Malformation syndrome
2946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946
Brachydactyly-long thumb syndrome
Malformation syndrome
168796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796
Heart-hand syndrome, Slovenian type
Malformation syndrome
228190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Malformation syndrome
319340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340
Carney complex-trismus-pseudocamptodactyly syndrome
Disease
294949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949
Joint formation defects
Category
3248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248
Distal symphalangism
Morphological anomaly
3265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265
Humero-radial synostosis
Morphological anomaly
3266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266
Humero-radio-ulnar synostosis
Morphological anomaly
3269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269
Congenital radioulnar synostosis
Morphological anomaly
295217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295217
Radio-ulnar synostosis, unilateral
Clinical subtype
295219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295219
Radio-ulnar synostosis, bilateral
Clinical subtype
94056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056
Humero-ulnar synostosis
Morphological anomaly
295213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295213
Humero-ulnar synostosis, unilateral
Clinical subtype
295215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295215
Humero-ulnar synostosis, bilateral
Clinical subtype
217059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059
Isolated congenital digital clubbing
Morphological anomaly
295028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028
Tibio-fibular synostosis
Morphological anomaly
294955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955
Syndrome with limb reduction defects
Category
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
496693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Malformation syndrome
1354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354
Heart defects-limb shortening syndrome
Malformation syndrome
3320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320
Thrombocytopenia-absent radius syndrome
Malformation syndrome
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
3103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103
Roberts syndrome
Malformation syndrome
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
ADULT syndrome
Malformation syndrome
988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Malformation syndrome
989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Hypoglossia-hypodactyly syndrome
Malformation syndrome
1071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Malformation syndrome
1072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Clinical subtype
1074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Clinical subtype
1112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Malformation syndrome
1113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113
Aphalangy-syndactyly-microcephaly syndrome
Malformation syndrome
1972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972
Lethal faciocardiomelic dysplasia
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
1988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988
Femoral-facial syndrome
Malformation syndrome
2063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063
Splenogonadal fusion-limb defects-micrognathia syndrome
Malformation syndrome
2249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249
Ulna hypoplasia-intellectual disability syndrome
Malformation syndrome
2307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307
IVIC syndrome
Malformation syndrome
2310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310
Absence deformity of leg-cataract syndrome
Malformation syndrome
2329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329
Karsch-Neugebauer syndrome
Malformation syndrome
392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Holt-Oram syndrome
Malformation syndrome
2564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564
Tetramelic monodactyly
Malformation syndrome
2639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639
Fibular aplasia-complex brachydactyly syndrome
Malformation syndrome
2730
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730
Postaxial tetramelic oligodactyly
Malformation syndrome
2839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839
Pelvis-shoulder dysplasia
Malformation syndrome
2854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854
Fuhrmann syndrome
Malformation syndrome
2878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Malformation syndrome
2879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879
Phocomelia, Schinzel type
Malformation syndrome
3015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015
Radio-renal syndrome
Malformation syndrome
3016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016
Absent radius-anogenital anomalies syndrome
Malformation syndrome
3021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021
RAPADILINO syndrome
Malformation syndrome
3138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138
Ulnar-mammary syndrome
Malformation syndrome
3301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301
Tetraamelia-multiple malformations syndrome
Malformation syndrome
3312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312
Thalidomide embryopathy
Malformation syndrome
3328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328
Absent tibia-polydactyly-arachnoid cyst syndrome
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
3383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383
Humerus trochlea aplasia
Malformation syndrome
71271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Split hand-split foot-deafness syndrome
Malformation syndrome
93293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293
Okihiro syndrome
Malformation syndrome
261638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638
Okihiro syndrome due to 20q13 microdeletion
Etiological subtype
261647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647
Okihiro syndrome due to a point mutation
Etiological subtype
93333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333
Pelviscapular dysplasia
Malformation syndrome
238744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744
Mammary-digital-nail syndrome
Malformation syndrome
329319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319
Thrombocythemia with distal limb defects
Disease
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
1891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891
Intellectual disability-spasticity-ectrodactyly syndrome
Malformation syndrome
2492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492
FATCO syndrome
Malformation syndrome
508542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Disease
221139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139
Combined immunodeficiency with facio-oculo-skeletal anomalies
Disease
1326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326
Camptodactyly syndrome, Guadalajara type 2
Malformation syndrome
294957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957
Dysostosis with combined reduction defects of upper and lower limbs
Category
1027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1027
Autosomal recessive amelia
Malformation syndrome
1118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118
Fibular aplasia-ectrodactyly syndrome
Malformation syndrome
1121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121
Radial deficiency-tibial hypoplasia syndrome
Malformation syndrome
1122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122
Ulnar hypoplasia-split foot syndrome
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
2019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019
Femur-fibula-ulna complex
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
294959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Category
658805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805
Greig cephalopolysyndactyly-contiguous gene syndrome
Disease
567502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Disease
85203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203
Acropectoral syndrome
Malformation syndrome
93409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409
Brachydactyly-syndactyly, Zhao type
Malformation syndrome
140952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Malformation syndrome
140997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Orofaciodigital syndrome
Clinical group
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
141000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Orofaciodigital syndrome type 11
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
141327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Orofaciodigital syndrome type 12
Malformation syndrome
141330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Orofaciodigital syndrome type 13
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
508501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501
Oral-facial-digital syndrome with short stature and brachymesophalangy
Malformation syndrome
357332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Malformation syndrome
369979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Malformation syndrome
420584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
36
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Acrocallosal syndrome
Malformation syndrome
957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957
Acropectorovertebral dysplasia
Malformation syndrome
1003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003
Scalp defects-postaxial polydactyly syndrome
Malformation syndrome
1113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113
Aphalangy-syndactyly-microcephaly syndrome
Malformation syndrome
1388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388
Catel-Manzke syndrome
Malformation syndrome
1527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527
Craniosynostosis, Philadelphia type
Malformation syndrome
1566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566
Dandy-Walker malformation-postaxial polydactyly syndrome
Malformation syndrome
1757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757
Fibular dimelia-diplopodia syndrome
Malformation syndrome
1892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892
Ectrodactyly-polydactyly syndrome
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380
Greig cephalopolysyndactyly syndrome
Malformation syndrome
2110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110
Hallux varus-preaxial polysyndactyly syndrome
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Lacrimoauriculodentodigital syndrome
Malformation syndrome
2378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378
Laurin-Sandrow syndrome
Malformation syndrome
2854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854
Fuhrmann syndrome
Malformation syndrome
2917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917
Polydactyly-myopia syndrome
Malformation syndrome
2920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920
Oliver syndrome
Malformation syndrome
2935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935
Crossed polysyndactyly
Malformation syndrome
2947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947
Triphalangeal thumbs-brachyectrodactyly syndrome
Malformation syndrome
2957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957
Guttmacher syndrome
Malformation syndrome
3004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Malformation syndrome
3168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168
Sillence syndrome
Malformation syndrome
3172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172
Eyebrow duplication-syndactyly syndrome
Malformation syndrome
3246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246
Symphalangism with multiple anomalies of hands and feet
Malformation syndrome
3255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255
Filippi syndrome
Malformation syndrome
3258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258
Cenani-Lenz syndrome
Malformation syndrome
3328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328
Absent tibia-polydactyly-arachnoid cyst syndrome
Malformation syndrome
3259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259
Syndactyly-polydactyly-ear lobe syndrome
Malformation syndrome
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
71271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Split hand-split foot-deafness syndrome
Malformation syndrome
2492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492
FATCO syndrome
Malformation syndrome
476119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Malformation syndrome
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
364198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198
Bipartite talus
Morphological anomaly
364571
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364571
Dysostosis with limb and face anomalies as a major feature
Category
2749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749
Oromandibular-limb hypogenesis syndrome
Clinical group
1406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406
Charlie M syndrome
Malformation syndrome
989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Hypoglossia-hypodactyly syndrome
Malformation syndrome
141163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163
Glossopalatine ankylosis
Malformation syndrome
199332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332
Endocrine-cerebro-osteodysplasia syndrome
Malformation syndrome
364574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364574
Acrofacial dysostosis
Clinical group
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949
Acrocraniofacial dysostosis
Malformation syndrome
952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952
Acrofacial dysostosis, Weyers type
Malformation syndrome
1131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131
X-linked mandibulofacial dysostosis
Malformation syndrome
1520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Craniofrontonasal dysplasia
Malformation syndrome
1784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784
Acrofrontofacionasal dysostosis
Malformation syndrome
1786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786
Acrofacial dysostosis, Catania type
Malformation syndrome
1788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788
Acrofacial dysostosis, Rodríguez type
Malformation syndrome
2439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439
Patterson-Stevenson-Fontaine syndrome
Malformation syndrome
1827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827
Acromelic frontonasal dysplasia
Malformation syndrome
1787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787
Acrofacial dysostosis, Palagonia type
Malformation syndrome
64542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542
Acrofacial dysostosis, Kennedy-Teebi type
Malformation syndrome
79113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113
Mandibulofacial dysostosis-microcephaly syndrome
Malformation syndrome
3102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102
Richieri Costa-Pereira syndrome
Malformation syndrome
2793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793
Otoonychoperoneal syndrome
Malformation syndrome
3023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023
External auditory canal atresia-vertical talus-hypertelorism syndrome
Malformation syndrome
1321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Malformation syndrome
1323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323
Camptodactyly-joint contractures-facial skeletal defects syndrome
Malformation syndrome
139021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139021
Malformation syndrome with short stature
Category
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915
Aarskog-Scott syndrome
Malformation syndrome
125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125
Bloom syndrome
Disease
235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Dubowitz syndrome
Malformation syndrome
813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813
Silver-Russell syndrome
Disease
96182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Etiological subtype
231137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137
Silver-Russell syndrome due to 7p11.2p13 microduplication
Etiological subtype
231140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140
Silver-Russell syndrome due to an imprinting defect of 11p15
Etiological subtype
231144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144
Silver-Russell syndrome due to 11p15 microduplication
Etiological subtype
231147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Etiological subtype
397590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590
Silver-Russell syndrome due to a point mutation
Etiological subtype
1974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974
Autosomal recessive faciodigitogenital syndrome
Malformation syndrome
2044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044
Floating-Harbor syndrome
Malformation syndrome
2108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108
Hallermann-Streiff syndrome
Malformation syndrome
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
2322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322
Kabuki syndrome
Malformation syndrome
2333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333
Kenny-Caffey syndrome
Malformation syndrome
93324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324
Autosomal recessive Kenny-Caffey syndrome
Etiological subtype
93325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325
Autosomal dominant Kenny-Caffey syndrome
Etiological subtype
2576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576
Mulibrey nanism
Malformation syndrome
2616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616
3M syndrome
Malformation syndrome
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
97360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360
Robinow syndrome
Malformation syndrome
1507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507
Autosomal recessive Robinow syndrome
Clinical subtype
3107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107
Autosomal dominant Robinow syndrome
Clinical subtype
98733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733
Noonan syndrome and Noonan-related syndrome
Category
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
3071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071
Costello syndrome
Malformation syndrome
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
1340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340
Cardiofaciocutaneous syndrome
Malformation syndrome
2701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701
Noonan syndrome-like disorder with loose anagen hair
Malformation syndrome
363972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Malformation syndrome
638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638
Neurofibromatosis-Noonan syndrome
Malformation syndrome
99741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741
King-Denborough syndrome
Malformation syndrome
141333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333
Biemond syndrome type 2
Disease
217026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Malformation syndrome
352712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Disease
391677
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Malformation syndrome
420794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794
Cono-spondylar dysplasia
Malformation syndrome
423306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Malformation syndrome
424099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Malformation syndrome
431140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Malformation syndrome
444077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Malformation syndrome
459061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Malformation syndrome
1937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937
Eng-Strom syndrome
Malformation syndrome
456298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298
1p35.2 microdeletion syndrome
Malformation syndrome
2332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332
KBG syndrome
Malformation syndrome
457240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240
X-linked intellectual disability-short stature-overweight syndrome
Malformation syndrome
457365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Malformation syndrome
457395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Malformation syndrome
397623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Malformation syndrome
1964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Malformation syndrome
488618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618
Transketolase deficiency
Malformation syndrome
2109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109
Hallermann-Streiff-like syndrome
Malformation syndrome
480880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Malformation syndrome
2183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183
Hydrocephalus-obesity-hypogonadism syndrome
Malformation syndrome
2714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714
Oculo-palato-cerebral syndrome
Malformation syndrome
508488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488
8q24.3 microdeletion syndrome
Malformation syndrome
508498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Malformation syndrome
494439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Malformation syndrome
476406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406
Congenital generalized hypercontractile muscle stiffness syndrome
Disease
572761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Malformation syndrome
572768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768
Microcephaly-micromelia syndrome
Clinical subtype
572773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773
Microcephaly-short stature-limb abnormalities syndrome
Clinical subtype
3191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191
Subaortic stenosis-short stature syndrome
Malformation syndrome
580940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940
QRICH1-related intellectual disability-chondrodysplasia syndrome
Malformation syndrome
589442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Malformation syndrome
902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902
Werner syndrome
Disease
611216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216
Aplastic anemia-intellectual disability-dwarfism syndrome
Disease
611207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Clinical syndrome
592574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574
Menke-Hennekam syndrome
Malformation syndrome
633004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
Disease
139024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139024
Overgrowth/obesity syndrome
Category
93460
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93460
Overgrowth syndrome
Category
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
2346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346
Angioosteohypertrophic syndrome
Clinical group
90307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307
Parkes Weber syndrome
Disease
90308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308
Klippel-Trénaunay syndrome
Disease
744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744
Proteus syndrome
Malformation syndrome
821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821
Sotos syndrome
Disease
3205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205
Sturge-Weber syndrome
Malformation syndrome
3447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447
Weaver syndrome
Malformation syndrome
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Bannayan-Riley-Ruvalcaba syndrome
Malformation syndrome
1926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926
Diabetic embryopathy
Malformation syndrome
2128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128
Isolated hemihyperplasia
Morphological anomaly
296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296
Ollier disease
Disease
561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561
Marshall-Smith syndrome
Malformation syndrome
2849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849
Perlman syndrome
Malformation syndrome
33445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445
Neuroectodermal melanolysosomal disease
Malformation syndrome
93461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93461
Chromosomal disease with overgrowth
Category
884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884
Tetrasomy 12p
Malformation syndrome
1742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742
Trisomy 5p
Malformation syndrome
96072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072
4p16.3 microduplication syndrome
Malformation syndrome
314585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585
15q overgrowth syndrome
Malformation syndrome
1707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707
Distal duplication 15q
Etiological subtype
314588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588
Distal triplication 15q
Etiological subtype
137608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Malformation syndrome
137634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634
Overgrowth-macrocephaly-facial dysmorphism syndrome
Malformation syndrome
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
293964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Disease
404443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443
Tatton-Brown-Rahman syndrome
Malformation syndrome
300305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305
11p15.4 microduplication syndrome
Malformation syndrome
404476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Malformation syndrome
420179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179
Malan overgrowth syndrome
Malformation syndrome
457359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Malformation syndrome
597738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738
Luscan-Lumish syndrome
Malformation syndrome
530313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530313
PIK3CA-related overgrowth syndrome
Clinical group
60040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040
Megalencephaly-capillary malformation-polymicrogyria syndrome
Malformation syndrome
276280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280
Hemihyperplasia-multiple lipomatosis syndrome
Malformation syndrome
314662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Disease
140944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944
CLOVES syndrome
Malformation syndrome
99802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802
Hemimegalencephaly
Malformation syndrome
295239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239
Macrodactyly of fingers, unilateral
Clinical subtype
295243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243
Macrodactyly of toes, unilateral
Clinical subtype
583097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583097
Congenital infiltrating lipomatosis of the face
Disease
168984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984
CLAPO syndrome
Malformation syndrome
642675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675
CHD8 overgrowth syndrome
Disease
240371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240371
Syndromic obesity
Category
819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819
Smith-Magenis syndrome
Malformation syndrome
908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908
Fragile X syndrome
Malformation syndrome
739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739
Prader-Willi syndrome
Disease
98754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Etiological subtype
98793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
Etiological subtype
177901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Etiological subtype
177904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Etiological subtype
177907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907
Prader-Willi syndrome due to translocation
Etiological subtype
177910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910
Prader-Willi syndrome due to imprinting mutation
Etiological subtype
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192
Coffin-Lowry syndrome
Malformation syndrome
193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193
Cohen syndrome
Malformation syndrome
276630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630
Symptomatic form of Coffin-Lowry syndrome in female carriers
Malformation syndrome
457059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Clinical group
79443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443
Pseudohypoparathyroidism type 1A
Disease
79444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444
Pseudohypoparathyroidism type 1C
Disease
79445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445
Pseudopseudohypoparathyroidism
Disease
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127
Borjeson-Forssman-Lehmann syndrome
Malformation syndrome
1435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435
Xq21 microdeletion syndrome
Malformation syndrome
2563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563
MOMO syndrome
Malformation syndrome
464288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288
Short stature-brachydactyly-obesity-global developmental delay syndrome
Malformation syndrome
3459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459
Wilson-Turner syndrome
Malformation syndrome
2183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183
Hydrocephalus-obesity-hypogonadism syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
2637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637
Microcephalic osteodysplastic primordial dwarfism type II
Malformation syndrome
65759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759
Carpenter syndrome
Malformation syndrome
75858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858
MORM syndrome
Disease
85282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282
MEHMO syndrome
Malformation syndrome
261222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222
Distal 16p11.2 microdeletion syndrome
Malformation syndrome
352530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Disease
363741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Disease
369950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950
Intellectual disability-seizures-macrocephaly-obesity syndrome
Disease
397973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Disease
398073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073
Prader-Willi-like syndrome
Clinical group
633028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028
CPE-related Prader-Willi-like syndrome
Disease
171829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
6q16 microdeletion syndrome
Disease
398079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079
SIM1-related Prader-Willi-like syndrome
Disease
398069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069
MAGEL2-related Prader-Willi-like syndrome
Disease
444077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Malformation syndrome
99704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704
Early-onset obesity-hyperphagia-severe developmental delay syndrome
Disease
254516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516
Temple syndrome
Malformation syndrome
96184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184
Temple syndrome due to maternal uniparental disomy of chromosome 14
Etiological subtype
254525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525
Temple syndrome due to paternal 14q32.2 microdeletion
Etiological subtype
254531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531
Temple syndrome due to paternal 14q32.2 hypomethylation
Etiological subtype
521390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Malformation syndrome
589905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Disease
652487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487
Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
Malformation syndrome
293987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Disease
620363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Disease
600731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731
Clark-Baraitser syndrome
Malformation syndrome
647799
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799
MYT1L-related developmental delay-intellectual disability-obesity syndrome
Disease
139027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139027
Rare developmental defect with skin/mucosae involvement
Category
230857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857
Ehlers-Danlos/osteogenesis imperfecta syndrome
Disease
100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100
Ataxia-telangiectasia
Disease
774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774
Hereditary hemorrhagic telangiectasia
Disease
3071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071
Costello syndrome
Malformation syndrome
191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191
Cockayne syndrome
Disease
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
90321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321
Cockayne syndrome type 1
Clinical subtype
90322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322
Cockayne syndrome type 2
Clinical subtype
90324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324
Cockayne syndrome type 3
Clinical subtype
3440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440
Waardenburg syndrome
Disease
894
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894
Waardenburg syndrome type 1
Clinical subtype
895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895
Waardenburg syndrome type 2
Clinical subtype
896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896
Waardenburg syndrome type 3
Clinical subtype
902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902
Werner syndrome
Disease
113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113
Bazex-Dupré-Christol syndrome
Disease
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
37
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37
Acrodermatitis enteropathica
Disease
1116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Disease
1117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117
Aplasia cutis-myopia syndrome
Disease
1253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253
Ascher syndrome
Malformation syndrome
1662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662
Restrictive dermopathy
Disease
2176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176
Infantile systemic hyalinosis
Clinical subtype
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
2272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272
Ichthyosis-oral and digital anomalies syndrome
Malformation syndrome
2273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273
Ichthyosis follicularis-alopecia-photophobia syndrome
Disease
2309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309
Pachyonychia congenita
Disease
2556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556
Microphthalmia with linear skin defects syndrome
Malformation syndrome
740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740
Hutchinson-Gilford progeria syndrome
Disease
2959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959
Progeria-short stature-pigmented nevi syndrome
Malformation syndrome
3455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455
Wiedemann-Rautenstrauch syndrome
Malformation syndrome
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209
Cutis laxa
Clinical group
2078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078
Geroderma osteodysplastica
Malformation syndrome
2962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962
De Barsy syndrome
Disease
35664
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664
ALDH18A1-related De Barsy syndrome
Etiological subtype
293633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633
PYCR1-related De Barsy syndrome
Etiological subtype
3134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134
SCARF syndrome
Malformation syndrome
3342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342
Arterial tortuosity syndrome
Malformation syndrome
198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198
Occipital horn syndrome
Disease
90348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348
Autosomal dominant cutis laxa
Disease
90349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349
Autosomal recessive cutis laxa type 1
Disease
90350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350
Autosomal recessive cutis laxa type 2
Clinical group
357058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058
Autosomal recessive cutis laxa type 2A
Disease
2834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Wrinkly skin syndrome
Clinical subtype
357074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074
Autosomal recessive cutis laxa type 2, classic type
Clinical subtype
357064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064
Autosomal recessive cutis laxa type 2B
Disease
217335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335
RIN2 syndrome
Malformation syndrome
221145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Malformation syndrome
363705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705
Craniofaciofrontodigital syndrome
Disease
314718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Disease
2295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295
Familial articular hypermobility syndrome
Disease
758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758
Pseudoxanthoma elasticum
Disease
257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257
Epidermolysis bullosa simplex with muscular dystrophy
Disease
305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305
Junctional epidermolysis bullosa
Clinical group
2407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407
Laryngo-onycho-cutaneous syndrome
Disease
79403
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403
Junctional epidermolysis bullosa with pyloric atresia
Disease
79404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404
Severe generalized junctional epidermolysis bullosa
Disease
79405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405
Junctional epidermolysis bullosa inversa
Disease
79406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406
Late-onset junctional epidermolysis bullosa
Disease
251393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393
Localized junctional epidermolysis bullosa
Disease
231556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Disease
306504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Disease
79402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402
Intermediate generalized junctional epidermolysis bullosa
Disease
303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303
Dystrophic epidermolysis bullosa
Clinical group
79408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Disease
79409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409
Recessive dystrophic epidermolysis bullosa inversa
Disease
595356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595356
Localized dystrophic epidermolysis bullosa
Disease
79410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410
Localized dystrophic epidermolysis bullosa, pretibial form
Clinical subtype
158673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673
Localized dystrophic epidermolysis bullosa, acral form
Clinical subtype
158676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676
Localized dystrophic epidermolysis bullosa, nails only
Clinical subtype
79411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411
Self-improving dystrophic epidermolysis bullosa
Disease
89842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Disease
89843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843
Dystrophic epidermolysis bullosa pruriginosa
Disease
231568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568
Autosomal dominant generalized dystrophic epidermolysis bullosa
Disease
530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530
Lipoid proteinosis
Malformation syndrome
33445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445
Neuroectodermal melanolysosomal disease
Malformation syndrome
79143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143
Isolated congenital anonychia
Disease
90390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390
Anonychia-onychodystrophy syndrome
Clinical subtype
94150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150
Anonychia congenita totalis
Clinical subtype
79373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373
Ectodermal dysplasia syndrome
Category
3200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200
Arthrogryposis-ectodermal dysplasia syndrome
Malformation syndrome
289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289
Ellis Van Creveld syndrome
Malformation syndrome
464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464
Incontinentia pigmenti
Malformation syndrome
235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Dubowitz syndrome
Malformation syndrome
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477
KID syndrome
Disease
560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Marshall syndrome
Malformation syndrome
189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189
Hidrotic ectodermal dysplasia
Disease
1946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946
Amelocerebrohypohidrotic syndrome
Malformation syndrome
952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952
Acrofacial dysostosis, Weyers type
Malformation syndrome
1005
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005
Alopecia-contractures-dwarfism-intellectual disability syndrome
Malformation syndrome
1010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Disease
1028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028
Amelo-onycho-hypohidrotic syndrome
Malformation syndrome
1071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Malformation syndrome
1072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Clinical subtype
1074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Clinical subtype
1133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133
AREDYLD syndrome
Malformation syndrome
1174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174
Cerebellar ataxia-ectodermal dysplasia syndrome
Malformation syndrome
1234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Bartsocas-Papas syndrome
Malformation syndrome
1262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262
Böök syndrome
Malformation syndrome
1264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264
Tricho-retino-dento-digital syndrome
Malformation syndrome
1340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340
Cardiofaciocutaneous syndrome
Malformation syndrome
1366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Disease
1375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375
Cataract-hypertrichosis-intellectual disability syndrome
Malformation syndrome
1433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433
Choroidal atrophy-alopecia syndrome
Malformation syndrome
1484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Malformation syndrome
1515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515
Cranioectodermal dysplasia
Malformation syndrome
1563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563
Dahlberg-Borer-Newcomer syndrome
Malformation syndrome
1573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573
Hypotrichosis with juvenile macular degeneration
Malformation syndrome
1657
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657
Dermatoosteolysis, Kirghizian type
Malformation syndrome
1660
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660
Dermoodontodysplasia
Malformation syndrome
1231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231
Barber-Say syndrome
Malformation syndrome
2251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251
Thumb deformity-alopecia-pigmentation anomaly syndrome
Malformation syndrome
1806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806
Ectodermal dysplasia-blindness syndrome
Malformation syndrome
1808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Malformation syndrome
1809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809
Hidrotic ectodermal dysplasia, Halal type
Malformation syndrome
1812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Malformation syndrome
1882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Malformation syndrome
1883
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883
Ectodermal dysplasia-sensorineural deafness syndrome
Malformation syndrome
1816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Malformation syndrome
1818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818
Ectodermal dysplasia, trichoodontoonychial type
Malformation syndrome
1897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897
EEM syndrome
Malformation syndrome
1997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997
Blepharo-cheilo-odontic syndrome
Malformation syndrome
2026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026
Gingival fibromatosis-hypertrichosis syndrome
Malformation syndrome
2036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036
Scalp-ear-nipple syndrome
Malformation syndrome
2067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067
GAPO syndrome
Malformation syndrome
2092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Focal dermal hypoplasia
Malformation syndrome
2095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095
Gorlin-Chaudhry-Moss syndrome
Malformation syndrome
2108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108
Hallermann-Streiff syndrome
Malformation syndrome
2220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220
Hypertrichosis cubiti
Malformation syndrome
2222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222
Hypertrichosis lanuginosa congenita
Disease
1023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023
Congenital generalized hypertrichosis, Ambras type
Clinical subtype
79495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495
X-linked congenital generalized hypertrichosis
Clinical subtype
2228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228
Hypodontia-dysplasia of nails syndrome
Malformation syndrome
2269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Disease
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
2316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316
Johnson neuroectodermal syndrome
Malformation syndrome
2561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561
Pyramidal molars-abnormal upper lip syndrome
Malformation syndrome
2710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Oculodentodigital dysplasia
Malformation syndrome
2713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713
Oculoosteocutaneous syndrome
Malformation syndrome
2718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718
Oculotrichodysplasia
Malformation syndrome
2721
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721
Odonto-onycho-dermal dysplasia
Disease
2722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722
Odonto-onycho dysplasia-alopecia syndrome
Malformation syndrome
2723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723
Odontotrichomelic syndrome
Malformation syndrome
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678
Papillon-Lefèvre syndrome
Disease
2890
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890
Pili torti-onychodysplasia syndrome
Malformation syndrome
2892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892
Pilodental dysplasia-refractive errors syndrome
Malformation syndrome
2930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930
Cronkhite-Canada syndrome
Disease
798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798
Schinzel-Giedion syndrome
Malformation syndrome
3194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194
Corneodermatoosseous syndrome
Malformation syndrome
3220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220
Deafness-enamel hypoplasia-nail defects syndrome
Malformation syndrome
3231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231
Deafness-onychodystrophy syndrome
Clinical group
79499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499
Autosomal dominant deafness-onychodystrophy syndrome
Malformation syndrome
79500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500
DOORS syndrome
Malformation syndrome
3236
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236
Conductive deafness-ptosis-skeletal anomalies syndrome
Malformation syndrome
3291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291
Teebi-Shaltout syndrome
Malformation syndrome
3339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339
Toriello-Lacassie-Droste syndrome
Malformation syndrome
3351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351
Trichodental syndrome
Malformation syndrome
3352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352
Tricho-dento-osseous syndrome
Malformation syndrome
3353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353
Trichodermodysplasia-dental alterations syndrome
Malformation syndrome
3355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355
Trichoodontoonychial dysplasia
Malformation syndrome
3363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Malformation syndrome
3474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
CHIME syndrome
Malformation syndrome
175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175
Cartilage-hair hypoplasia
Disease
33364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364
Trichothiodystrophy
Disease
50944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944
Schöpf-Schulz-Passarge syndrome
Disease
65282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282
Carvajal syndrome
Disease
69082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082
Odonto-tricho-ungual-digito-palmar syndrome
Malformation syndrome
69083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083
Ectodermal dysplasia with natal teeth, Turnpenny type
Malformation syndrome
69084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084
Pure hair and nail ectodermal dysplasia
Malformation syndrome
69087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087
Naegeli-Franceschetti-Jadassohn syndrome
Disease
69088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease
69125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125
Anonychia with flexural pigmentation
Malformation syndrome
79129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129
Trichodysplasia-amelogenesis imperfecta syndrome
Malformation syndrome
86920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920
Dermatopathia pigmentosa reticularis
Disease
98609
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609
EEC syndrome and related disorders
Category
978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
ADULT syndrome
Malformation syndrome
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
2363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Lacrimoauriculodentodigital syndrome
Malformation syndrome
69085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085
Limb-mammary syndrome
Malformation syndrome
99672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672
Fried's tooth and nail syndrome
Malformation syndrome
99688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688
Dermotrichic syndrome
Malformation syndrome
140936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936
Lelis syndrome
Malformation syndrome
158668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668
Ectodermal dysplasia-skin fragility syndrome
Disease
238468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468
Hypohidrotic ectodermal dysplasia
Disease
181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181
X-linked hypohidrotic ectodermal dysplasia
Etiological subtype
248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248
Autosomal recessive hypohidrotic ectodermal dysplasia
Etiological subtype
1810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810
Autosomal dominant hypohidrotic ectodermal dysplasia
Etiological subtype
247820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
Malformation syndrome
247827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827
Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
Malformation syndrome
307766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766
Curly hair-acral keratoderma-caries syndrome
Disease
307936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Disease
319195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195
Chondroectodermal dysplasia with night blindness
Disease
3253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253
Cleft lip/palate-ectodermal dysplasia syndrome
Malformation syndrome
324764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764
Trichorhinophalangeal syndrome
Clinical group
502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502
Trichorhinophalangeal syndrome type 2
Malformation syndrome
77258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258
Trichorhinophalangeal syndrome type 1
Malformation syndrome
398166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166
Focal facial dermal dysplasia
Malformation syndrome
1807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807
Focal facial dermal dysplasia type III
Clinical subtype
79133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133
Focal facial dermal dysplasia type I
Clinical subtype
398173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173
Focal facial dermal dysplasia type II
Clinical subtype
398189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189
Focal facial dermal dysplasia type IV
Clinical subtype
423454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Disease
1401
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401
CHAND syndrome
Malformation syndrome
2109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109
Hallermann-Streiff-like syndrome
Malformation syndrome
293165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Disease
2266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266
Hypotrichosis-intellectual disability, Lopes type
Disease
447961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Disease
589608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Disease
98813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813
Hypohidrotic ectodermal dysplasia with immunodeficiency
Disease
98249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249
Ehlers-Danlos syndrome
Clinical group
287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287
Classical Ehlers-Danlos syndrome
Disease
2953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Musculocontractural Ehlers-Danlos syndrome
Disease
285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285
Hypermobile Ehlers-Danlos syndrome
Disease
286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286
Vascular Ehlers-Danlos syndrome
Disease
536545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545
Kyphoscoliotic Ehlers-Danlos syndrome
Disease
1900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Clinical subtype
300179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Clinical subtype
1899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899
Arthrochalasia Ehlers-Danlos syndrome
Disease
1901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901
Dermatosparaxis Ehlers-Danlos syndrome
Disease
75392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392
Periodontal Ehlers-Danlos syndrome
Disease
536471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471
Spondylodysplastic Ehlers-Danlos syndrome
Disease
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
536467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
157965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
75497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497
X-linked Ehlers-Danlos syndrome
Disease
90354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354
Brittle cornea syndrome
Disease
536516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516
Myopathic Ehlers-Danlos syndrome
Disease
230839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839
Classical-like Ehlers-Danlos syndrome type 1
Disease
230851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851
Cardiac-valvular Ehlers-Danlos syndrome
Disease
536532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532
Classical-like Ehlers-Danlos syndrome type 2
Disease
636941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941
Vascular Ehlers-Danlos-polymicrogyria syndrome
Disease
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
289465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465
Isolated congenital adermatoglyphia
Disease
352712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Disease
363992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Disease
438134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134
PCNA-related progressive neurodegenerative photosensitivity syndrome
Disease
90342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Xeroderma pigmentosum variant
Disease
139030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139030
Rare developmental defect with connective tissue involvement
Category
230857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857
Ehlers-Danlos/osteogenesis imperfecta syndrome
Disease
558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558
Marfan syndrome
Disease
284963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963
Marfan syndrome type 1
Clinical subtype
284973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973
Marfan syndrome type 2
Clinical subtype
1425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425
Desbuquois syndrome
Malformation syndrome
2371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371
Lethal Larsen-like syndrome
Malformation syndrome
209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209
Cutis laxa
Clinical group
2078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078
Geroderma osteodysplastica
Malformation syndrome
2962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962
De Barsy syndrome
Disease
35664
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664
ALDH18A1-related De Barsy syndrome
Etiological subtype
293633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633
PYCR1-related De Barsy syndrome
Etiological subtype
3134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134
SCARF syndrome
Malformation syndrome
3342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342
Arterial tortuosity syndrome
Malformation syndrome
198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198
Occipital horn syndrome
Disease
90348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348
Autosomal dominant cutis laxa
Disease
90349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349
Autosomal recessive cutis laxa type 1
Disease
90350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350
Autosomal recessive cutis laxa type 2
Clinical group
357058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058
Autosomal recessive cutis laxa type 2A
Disease
2834
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834
Wrinkly skin syndrome
Clinical subtype
357074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074
Autosomal recessive cutis laxa type 2, classic type
Clinical subtype
357064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064
Autosomal recessive cutis laxa type 2B
Disease
217335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335
RIN2 syndrome
Malformation syndrome
221145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Malformation syndrome
363705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705
Craniofaciofrontodigital syndrome
Disease
314718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Disease
503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503
Larsen syndrome
Malformation syndrome
758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758
Pseudoxanthoma elasticum
Disease
79094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094
Grange syndrome
Malformation syndrome
85174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174
Pseudodiastrophic dysplasia
Malformation syndrome
98249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249
Ehlers-Danlos syndrome
Clinical group
287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287
Classical Ehlers-Danlos syndrome
Disease
2953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Musculocontractural Ehlers-Danlos syndrome
Disease
285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285
Hypermobile Ehlers-Danlos syndrome
Disease
286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286
Vascular Ehlers-Danlos syndrome
Disease
536545
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545
Kyphoscoliotic Ehlers-Danlos syndrome
Disease
1900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Clinical subtype
300179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Clinical subtype
1899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899
Arthrochalasia Ehlers-Danlos syndrome
Disease
1901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901
Dermatosparaxis Ehlers-Danlos syndrome
Disease
75392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392
Periodontal Ehlers-Danlos syndrome
Disease
536471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471
Spondylodysplastic Ehlers-Danlos syndrome
Disease
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
536467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
157965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
75497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497
X-linked Ehlers-Danlos syndrome
Disease
90354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354
Brittle cornea syndrome
Disease
536516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516
Myopathic Ehlers-Danlos syndrome
Disease
230839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839
Classical-like Ehlers-Danlos syndrome type 1
Disease
230851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851
Cardiac-valvular Ehlers-Danlos syndrome
Disease
536532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532
Classical-like Ehlers-Danlos syndrome type 2
Disease
636941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941
Vascular Ehlers-Danlos-polymicrogyria syndrome
Disease
171719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719
Cutis laxa-Marfanoid syndrome
Malformation syndrome
171844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844
Blindness-scoliosis-arachnodactyly syndrome
Malformation syndrome
228410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410
Polyvalvular heart disease syndrome
Malformation syndrome
284139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139
Larsen-like syndrome, B3GAT3 type
Malformation syndrome
300284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Disease
314041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314041
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Malformation syndrome
527450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450
Severe myopia-generalized joint laxity-short stature syndrome
Malformation syndrome
2295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295
Familial articular hypermobility syndrome
Disease
139033
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139033
Progeroid syndrome
Category
508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508
Leprechaunism
Malformation syndrome
191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191
Cockayne syndrome
Disease
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
90321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321
Cockayne syndrome type 1
Clinical subtype
90322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322
Cockayne syndrome type 2
Clinical subtype
90324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324
Cockayne syndrome type 3
Clinical subtype
902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902
Werner syndrome
Disease
528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528
Congenital generalized lipodystrophy
Disease
2348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348
Familial partial lipodystrophy, Dunnigan type
Disease
2457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457
Mandibuloacral dysplasia
Malformation syndrome
90153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153
Mandibuloacral dysplasia with type A lipodystrophy
Clinical subtype
90154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154
Mandibuloacral dysplasia with type B lipodystrophy
Clinical subtype
740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740
Hutchinson-Gilford progeria syndrome
Disease
2959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959
Progeria-short stature-pigmented nevi syndrome
Malformation syndrome
2985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985
Pseudoprogeria syndrome
Malformation syndrome
2909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909
Rothmund-Thomson syndrome
Disease
221008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008
Rothmund-Thomson syndrome type 1
Clinical subtype
221016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016
Rothmund-Thomson syndrome type 2
Clinical subtype
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
3455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455
Wiedemann-Rautenstrauch syndrome
Malformation syndrome
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
50811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Lipodystrophy-intellectual disability-deafness syndrome
Disease
79474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474
Atypical Werner syndrome
Disease
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
276432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432
Ogden syndrome
Malformation syndrome
280576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576
Nestor-Guillermo progeria syndrome
Malformation syndrome
363649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Disease
363665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665
Acroosteolysis-keloid-like lesions-premature aging syndrome
Disease
435953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953
Progeroid features-hepatocellular carcinoma predisposition syndrome
Disease
438134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134
PCNA-related progressive neurodegenerative photosensitivity syndrome
Disease
647667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667
Mandibuloacral dysplasia associated to MTX2
Malformation syndrome
90342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Xeroderma pigmentosum variant
Disease
139036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139036
Branchial arch or oral-acral syndrome
Category
141132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132
Oculo-auriculo-vertebral spectrum
Malformation syndrome
90652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652
Otopalatodigital syndrome type 2
Malformation syndrome
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
1406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406
Charlie M syndrome
Malformation syndrome
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570
Moebius syndrome
Disease
952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952
Acrofacial dysostosis, Weyers type
Malformation syndrome
989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Hypoglossia-hypodactyly syndrome
Malformation syndrome
1131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131
X-linked mandibulofacial dysostosis
Malformation syndrome
1296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296
Lambert syndrome
Malformation syndrome
1786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786
Acrofacial dysostosis, Catania type
Malformation syndrome
1788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788
Acrofacial dysostosis, Rodríguez type
Malformation syndrome
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
2063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063
Splenogonadal fusion-limb defects-micrognathia syndrome
Malformation syndrome
2213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213
Hypertelorism-microtia-facial clefting syndrome
Malformation syndrome
2439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439
Patterson-Stevenson-Fontaine syndrome
Malformation syndrome
2549
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549
Oculoauriculovertebral spectrum with radial defects
Malformation syndrome
2554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554
Ear-patella-short stature syndrome
Malformation syndrome
2792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792
Otofaciocervical syndrome
Malformation syndrome
3456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456
Wildervanck syndrome
Malformation syndrome
90650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650
Otopalatodigital syndrome type 1
Malformation syndrome
1787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787
Acrofacial dysostosis, Palagonia type
Malformation syndrome
64542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542
Acrofacial dysostosis, Kennedy-Teebi type
Malformation syndrome
79113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113
Mandibulofacial dysostosis-microcephaly syndrome
Malformation syndrome
137888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888
Auriculocondylar syndrome
Malformation syndrome
140997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Orofaciodigital syndrome
Clinical group
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
141000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Orofaciodigital syndrome type 11
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
141327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Orofaciodigital syndrome type 12
Malformation syndrome
141330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Orofaciodigital syndrome type 13
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
508501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501
Oral-facial-digital syndrome with short stature and brachymesophalangy
Malformation syndrome
231742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Malformation syndrome
306542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Malformation syndrome
357158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Disease
139042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139042
Malformation syndrome with odontal and/or periodontal component
Category
2720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720
Oculocerebral hypopigmentation syndrome, Preus type
Malformation syndrome
576278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278
SATB2-associated syndrome
Malformation syndrome
251028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028
SATB2-associated syndrome due to a chromosomal rearrangement
Etiological subtype
576283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283
SATB2-associated syndrome due to a pathogenic variant
Etiological subtype
627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627
Nance-Horan syndrome
Malformation syndrome
1946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946
Amelocerebrohypohidrotic syndrome
Malformation syndrome
978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
ADULT syndrome
Malformation syndrome
1031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031
Enamel-renal syndrome
Malformation syndrome
3196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196
Steroid dehydrogenase deficiency-dental anomalies syndrome
Disease
1452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452
Cleidocranial dysplasia
Malformation syndrome
90650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650
Otopalatodigital syndrome type 1
Malformation syndrome
90652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652
Otopalatodigital syndrome type 2
Malformation syndrome
1660
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660
Dermoodontodysplasia
Malformation syndrome
1811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811
Odontomicronychial dysplasia
Malformation syndrome
1873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873
Jalili syndrome
Malformation syndrome
1818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818
Ectodermal dysplasia, trichoodontoonychial type
Malformation syndrome
1997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997
Blepharo-cheilo-odontic syndrome
Malformation syndrome
2010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010
Cleft palate-stapes fixation-oligodontia syndrome
Malformation syndrome
2025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025
Gingival fibromatosis-facial dysmorphism syndrome
Malformation syndrome
2026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026
Gingival fibromatosis-hypertrichosis syndrome
Malformation syndrome
2027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027
Gingival fibromatosis-progressive deafness syndrome
Malformation syndrome
2028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028
Juvenile hyaline fibromatosis
Clinical subtype
2067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067
GAPO syndrome
Malformation syndrome
2228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228
Hypodontia-dysplasia of nails syndrome
Malformation syndrome
2332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332
KBG syndrome
Malformation syndrome
2342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342
Haim-Munk syndrome
Disease
2363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Lacrimoauriculodentodigital syndrome
Malformation syndrome
2561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561
Pyramidal molars-abnormal upper lip syndrome
Malformation syndrome
2709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709
Oculodental syndrome, Rutherfurd type
Malformation syndrome
2710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Oculodentodigital dysplasia
Malformation syndrome
2712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712
Oculofaciocardiodental syndrome
Malformation syndrome
2719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719
Oculocerebral hypopigmentation syndrome, Cross type
Malformation syndrome
2721
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721
Odonto-onycho-dermal dysplasia
Disease
2722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722
Odonto-onycho dysplasia-alopecia syndrome
Malformation syndrome
2723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723
Odontotrichomelic syndrome
Malformation syndrome
2724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724
Odontomatosis-aortae esophagus stenosis syndrome
Malformation syndrome
2791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791
Otodental syndrome
Malformation syndrome
678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678
Papillon-Lefèvre syndrome
Disease
2892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892
Pilodental dysplasia-refractive errors syndrome
Malformation syndrome
2899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899
Brachyolmia-amelogenesis imperfecta syndrome
Malformation syndrome
2916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916
Postaxial polydactyly-dental and vertebral anomalies syndrome
Malformation syndrome
2972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Malformation syndrome
3019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019
Ramon syndrome
Malformation syndrome
3184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184
Steatocystoma multiplex-natal teeth syndrome
Malformation syndrome
3220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220
Deafness-enamel hypoplasia-nail defects syndrome
Malformation syndrome
3230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230
Deafness-oligodontia syndrome
Malformation syndrome
3351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351
Trichodental syndrome
Malformation syndrome
3352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352
Tricho-dento-osseous syndrome
Malformation syndrome
3353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353
Trichodermodysplasia-dental alterations syndrome
Malformation syndrome
3355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355
Trichoodontoonychial dysplasia
Malformation syndrome
562559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Malformation syndrome
3473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473
Zimmermann-Laband syndrome
Malformation syndrome
50944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944
Schöpf-Schulz-Passarge syndrome
Disease
69082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082
Odonto-tricho-ungual-digito-palmar syndrome
Malformation syndrome
69083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083
Ectodermal dysplasia with natal teeth, Turnpenny type
Malformation syndrome
79129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129
Trichodysplasia-amelogenesis imperfecta syndrome
Malformation syndrome
99806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806
Oculootodental syndrome
Malformation syndrome
180766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180766
Malformative syndrome with dentinogenesis imperfecta
Category
1830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830
Schimke immuno-osseous dysplasia
Disease
71267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Malformation syndrome
166272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272
Odontochondrodysplasia
Malformation syndrome
166277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Malformation syndrome
284149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149
Craniosynostosis-dental anomalies
Malformation syndrome
300576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300576
Oligodontia-cancer predisposition syndrome
Disease
307766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766
Curly hair-acral keratoderma-caries syndrome
Disease
307936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Disease
363417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417
Temtamy preaxial brachydactyly syndrome
Malformation syndrome
314555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Malformation syndrome
589608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Disease
598603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
Malformation syndrome
155832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155832
Rare head and neck malformation
Category
1991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1991
Cleft lip with or without cleft palate
Clinical group
141291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291
Cleft lip and alveolus
Morphological anomaly
199302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302
Isolated cleft lip
Morphological anomaly
199306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306
Cleft lip/palate
Morphological anomaly
2014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2014
Cleft palate
Clinical group
99771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771
Bifid uvula
Morphological anomaly
99772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772
Cleft velum
Morphological anomaly
101023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023
Cleft hard palate
Morphological anomaly
155878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878
Submucosal cleft palate
Morphological anomaly
1166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166
Congenital unilateral hypoplasia of depressor anguli oris
Morphological anomaly
96333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96333
Rare otorhinolaryngological malformation
Category
155835
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155835
Cysts and fistulae of the face and oral cavity
Category
93953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953
Familial thyroglossal duct cyst
Morphological anomaly
141013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013
First branchial cleft anomaly
Morphological anomaly
141022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022
Second branchial cleft anomaly
Morphological anomaly
141030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030
Third branchial cleft anomaly
Morphological anomaly
141037
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037
Fourth branchial cleft anomaly
Morphological anomaly
141046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046
Cervical dermoid cyst
Morphological anomaly
141051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051
Facial dermoid cyst
Morphological anomaly
141061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061
Commissural lip fistula
Morphological anomaly
141064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064
Lower lip fistula
Morphological anomaly
141067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067
Cervicofacial fibrochondroma
Morphological anomaly
141071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071
Digestive duplication cyst of the tongue
Morphological anomaly
141103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103
Nasal dermoid cyst
Morphological anomaly
141219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219
Nasal dorsum fistula
Morphological anomaly
155838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838
Pinnae fistula or cyst
Morphological anomaly
156243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156243
Pinnae and external auditory canal anomaly
Category
83463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463
Microtia
Morphological anomaly
93976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976
Anotia
Morphological anomaly
141074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074
External auditory canal aplasia/hypoplasia
Morphological anomaly
3023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023
External auditory canal atresia-vertical talus-hypertelorism syndrome
Malformation syndrome
397623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Malformation syndrome
500188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Malformation syndrome
156246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156246
Nose and cavum anomaly
Category
99141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141
Lymphedema-posterior choanal atresia syndrome
Malformation syndrome
1135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1135
Arrhinia-choanal atresia-microphthalmia syndrome
Malformation syndrome
1200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200
Burn-McKeown syndrome
Malformation syndrome
1252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252
Blepharonasofacial malformation syndrome
Malformation syndrome
2363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Lacrimoauriculodentodigital syndrome
Malformation syndrome
2695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695
Bifid nose
Malformation syndrome
3026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026
Radial ray hypoplasia-choanal atresia syndrome
Malformation syndrome
1134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134
Isolated arrhinia
Malformation syndrome
137622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622
Intractable diarrhea-choanal atresia-eye anomalies syndrome
Malformation syndrome
137914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914
Choanal atresia
Morphological anomaly
137917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917
Choanal atresia, unilateral
Clinical subtype
137920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920
Choanal atresia, bilateral
Clinical subtype
141083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083
Nasolacrimal duct cyst
Morphological anomaly
141091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091
Polyrrhinia
Malformation syndrome
141096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096
Supernumerary nostril
Malformation syndrome
141099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099
Proboscis lateralis
Malformation syndrome
141112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112
Nasal glial heterotopia
Disease
141118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118
Nasal encephalocele
Clinical subtype
157832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832
Craniorhiny
Malformation syndrome
162516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516
Isolated congenital nasal pyriform aperture stenosis
Malformation syndrome
217266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266
BNAR syndrome
Malformation syndrome
466695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695
Supratip dysplasia
Morphological anomaly
451612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612
Familial congenital nasolacrimal duct obstruction
Morphological anomaly
589856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Malformation syndrome
156249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156249
Larynx anomaly
Category
2373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373
Congenital laryngomalacia
Malformation syndrome
2374
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374
Congenital laryngeal web
Malformation syndrome
1202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202
Larynx atresia
Malformation syndrome
2372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372
Laryngocele
Malformation syndrome
2004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004
Laryngotracheoesophageal cleft
Morphological anomaly
93938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938
Laryngotracheoesophageal cleft type 1
Clinical subtype
93939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939
Laryngotracheoesophageal cleft type 2
Clinical subtype
93940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940
Laryngotracheoesophageal cleft type 3
Clinical subtype
93941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941
Laryngotracheoesophageal cleft type 4
Clinical subtype
280205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205
Laryngotracheoesophageal cleft type 0
Clinical subtype
2291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291
Congenital velopharyngeal incompetence
Morphological anomaly
2808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808
Laryngeal abductor paralysis
Malformation syndrome
137926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926
Primary laryngeal lymphangioma
Malformation syndrome
137932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932
Congenital laryngeal palsy
Malformation syndrome
137935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935
Laryngotracheal angioma
Disease
141121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121
Congenital subglottic stenosis
Malformation syndrome
141124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124
Congenital laryngeal cyst
Morphological anomaly
156252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156252
Tracheal anomaly
Category
3346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346
Tracheal agenesis
Morphological anomaly
95430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430
Congenital tracheomalacia
Morphological anomaly
141127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127
Congenital tracheal stenosis
Morphological anomaly
164004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004
Middle and/or inner ear anomaly
Category
502318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318
Cochlear nerve deficiency
Morphological anomaly
502305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305
Cochleovestibular malformation
Morphological anomaly
162526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526
Isolated congenital auditory ossicle malformation
Morphological anomaly
155896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896
Otomandibular dysplasia
Category
137888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888
Auriculocondylar syndrome
Malformation syndrome
141132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132
Oculo-auriculo-vertebral spectrum
Malformation syndrome
155899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899
Mandibulofacial dysostosis
Clinical group
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950
Acrodysostosis
Malformation syndrome
357158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Disease
443995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995
Mandibulofacial dysostosis with alopecia
Malformation syndrome
156202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202
Otomandibular dysplasia associated with monogenic syndromes
Category
1296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296
Lambert syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
141229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141229
Facial cleft
Category
141234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141234
Median facial cleft
Clinical group
2006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006
Median cleft lip/mandible
Morphological anomaly
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
2695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695
Bifid nose
Malformation syndrome
141239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141239
Median cleft of the upper lip and maxilla
Morphological anomaly
141288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141288
Midline cervical cleft
Morphological anomaly
391474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474
Frontorhiny
Malformation syndrome
401942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401942
Familial median cleft of the upper and lower lips
Malformation syndrome
141253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253
Oblique facial cleft
Clinical group
141258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258
Tessier number 4 facial cleft
Morphological anomaly
141261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261
Tessier number 5 facial cleft
Morphological anomaly
141265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265
Tessier number 6 facial cleft
Morphological anomaly
155884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884
Coloboma of superior eyelid
Morphological anomaly
155889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889
Coloboma of inferior eyelid
Morphological anomaly
141269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141269
Lateral facial cleft
Clinical group
141276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276
Tessier number 7 facial cleft
Morphological anomaly
155867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155867
Paramedian facial cleft
Clinical group
141242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242
Paramedian nasal cleft
Morphological anomaly
156207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156207
Macroglossia
Category
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
2430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430
Congenital macroglossia
Malformation syndrome
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
2128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128
Isolated hemihyperplasia
Morphological anomaly
141145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145
Hemifacial hyperplasia
Malformation syndrome
141148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148
Hemifacial myohyperplasia
Malformation syndrome
156212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156212
Hypoglossia/aglossia
Category
141152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152
Isolated congenital hypoglossia/aglossia
Morphological anomaly
563954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563954
Isolated congenital hypoglossia
Clinical subtype
563951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563951
Isolated congenital aglossia
Clinical subtype
156215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156215
Oromandibular-limb anomalies syndrome
Category
2749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749
Oromandibular-limb hypogenesis syndrome
Clinical group
1406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406
Charlie M syndrome
Malformation syndrome
989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Hypoglossia-hypodactyly syndrome
Malformation syndrome
141163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163
Glossopalatine ankylosis
Malformation syndrome
140997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Orofaciodigital syndrome
Clinical group
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
141000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Orofaciodigital syndrome type 11
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
141327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Orofaciodigital syndrome type 12
Malformation syndrome
141330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Orofaciodigital syndrome type 13
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
508501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501
Oral-facial-digital syndrome with short stature and brachymesophalangy
Malformation syndrome
156224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156224
Paralytic facial malformation
Category
570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570
Moebius syndrome
Disease
306527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527
Isolated hereditary congenital facial paralysis
Morphological anomaly
306530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530
Congenital hereditary facial paralysis-variable hearing loss syndrome
Morphological anomaly
156237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156237
Syndrome or malformation associated with head and neck malformations
Category
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116
Beckwith-Wiedemann syndrome
Malformation syndrome
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
231117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Etiological subtype
231120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Etiological subtype
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
238613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613
Beckwith-Wiedemann syndrome due to NSD1 mutation
Etiological subtype
1600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600
Monosomy 18q
Malformation syndrome
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718
Isolated Pierre Robin syndrome
Malformation syndrome
744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744
Proteus syndrome
Malformation syndrome
3205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205
Sturge-Weber syndrome
Malformation syndrome
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888
Van der Woude syndrome
Malformation syndrome
1071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Malformation syndrome
1072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Clinical subtype
1074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Clinical subtype
1150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150
Arthrogryposis multiplex congenita-whistling face syndrome
Malformation syndrome
1248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248
Maxillonasal dysplasia
Malformation syndrome
1401
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401
CHAND syndrome
Malformation syndrome
1896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896
EEC syndrome
Malformation syndrome
2215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215
Multiple pterygium-malignant hyperthermia syndrome
Malformation syndrome
2461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461
Marden-Walker syndrome
Malformation syndrome
2952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952
Adducted thumbs-arthrogryposis syndrome, Christian type
Malformation syndrome
2460
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460
Van den Ende-Gupta syndrome
Malformation syndrome
90650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650
Otopalatodigital syndrome type 1
Malformation syndrome
91397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397
Isolated ankyloblepharon filiforme adnatum
Morphological anomaly
138044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044
Rare disease with Pierre Robin syndrome
Category
2886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886
TARP syndrome
Malformation syndrome
138041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138041
Pierre Robin syndrome associated with collagen disease
Category
828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828
Stickler syndrome
Disease
90653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Stickler syndrome type 1
Clinical subtype
90654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Stickler syndrome type 2
Clinical subtype
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485
Kniest dysplasia
Disease
166100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Malformation syndrome
138047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138047
Pierre Robin syndrome associated with a chromosomal anomaly
Category
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
436003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003
Contractures-developmental delay-Pierre Robin syndrome
Malformation syndrome
261323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323
21q22.11q22.12 microdeletion syndrome
Malformation syndrome
138050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138050
Pierre Robin syndrome associated with branchial archs anomalies
Category
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
138055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138055
Pierre Robin syndrome associated with bone disease
Category
87
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87
Apert syndrome
Malformation syndrome
1190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190
Atelosteogenesis type I
Malformation syndrome
56304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304
Atelosteogenesis type II
Malformation syndrome
56305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305
Atelosteogenesis type III
Malformation syndrome
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
138059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059
Teratogenic Pierre Robin syndrome
Category
1920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920
Toluene embryopathy
Malformation syndrome
1923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923
Methimazole embryofetopathy
Malformation syndrome
1926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926
Diabetic embryopathy
Malformation syndrome
2209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209
Maternal phenylketonuria
Malformation syndrome
2216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216
Maternal hyperthermia-induced birth defects
Malformation syndrome
2305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305
Isotretinoin syndrome
Malformation syndrome
1915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915
Fetal alcohol syndrome
Malformation syndrome
295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295
Fetal parvovirus syndrome
Malformation syndrome
1906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906
Fetal valproate spectrum disorder
Malformation syndrome
1908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908
Aminopterin/methotrexate embryofetopathy
Malformation syndrome
1909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909
Indomethacin embryofetopathy
Malformation syndrome
1910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910
Fetal iodine syndrome
Malformation syndrome
1911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911
Cocaine embryofetopathy
Malformation syndrome
1918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918
Fetal minoxidil syndrome
Malformation syndrome
1912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912
Fetal hydantoin syndrome
Malformation syndrome
1913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913
Fetal trimethadione syndrome
Malformation syndrome
1914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914
Vitamin K antagonist embryofetopathy
Malformation syndrome
1917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917
Fetal methylmercury syndrome
Malformation syndrome
1919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919
Phenobarbital embryopathy
Malformation syndrome
485358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358
Propylthiouracil embryofetopathy
Malformation syndrome
364577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577
Intellectual disability-brachydactyly-Pierre Robin syndrome
Malformation syndrome
139039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139039
Orofacial clefting syndrome
Category
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124
Diamond-Blackfan anemia
Disease
3103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103
Roberts syndrome
Malformation syndrome
1473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473
Uveal coloboma-cleft lip and palate-intellectual disability
Malformation syndrome
1358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358
Carey-Fineman-Ziter syndrome
Malformation syndrome
916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916
Aase-Smith syndrome
Malformation syndrome
920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920
Ablepharon macrostomia syndrome
Malformation syndrome
921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921
Abruzzo-Erickson syndrome
Malformation syndrome
1226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226
Bamforth-Lazarus syndrome
Malformation syndrome
1241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241
Bencze syndrome
Malformation syndrome
1297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297
Branchio-oculo-facial syndrome
Malformation syndrome
1388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388
Catel-Manzke syndrome
Malformation syndrome
1484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Malformation syndrome
1512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512
Crane-Heise syndrome
Malformation syndrome
1988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988
Femoral-facial syndrome
Malformation syndrome
1993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993
Pai syndrome
Malformation syndrome
1995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995
Cleft lip-retinopathy syndrome
Malformation syndrome
1997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997
Blepharo-cheilo-odontic syndrome
Malformation syndrome
2001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Malformation syndrome
2003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003
Cleft lip/palate-deafness-sacral lipoma syndrome
Malformation syndrome
2008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008
Acrocardiofacial syndrome
Malformation syndrome
2013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013
Cleft palate-large ears-small head syndrome
Malformation syndrome
2016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016
Cleft palate-lateral synechia syndrome
Malformation syndrome
2075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075
Genitopalatocardiac syndrome
Malformation syndrome
376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376
Gordon syndrome
Malformation syndrome
2117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117
Hartsfield syndrome
Malformation syndrome
2167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167
Holzgreve syndrome
Malformation syndrome
2189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189
Hydrolethalus
Malformation syndrome
2213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213
Hypertelorism-microtia-facial clefting syndrome
Malformation syndrome
2319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319
Juberg-Hayward syndrome
Malformation syndrome
2328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328
Kapur-Toriello syndrome
Malformation syndrome
2432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432
Macrosomia-microphthalmia-cleft palate syndrome
Malformation syndrome
2476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Malformation syndrome
2511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511
Microbrachycephaly-ptosis-cleft lip syndrome
Malformation syndrome
2521
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Malformation syndrome
2631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Malformation syndrome
2714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714
Oculo-palato-cerebral syndrome
Malformation syndrome
2723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723
Odontotrichomelic syndrome
Malformation syndrome
2736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736
Lethal omphalocele-cleft palate syndrome
Malformation syndrome
2804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804
W syndrome
Malformation syndrome
2825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825
PARC syndrome
Malformation syndrome
2854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854
Fuhrmann syndrome
Malformation syndrome
2888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888
Pierre Robin syndrome-faciodigital anomaly syndrome
Malformation syndrome
3021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021
RAPADILINO syndrome
Malformation syndrome
3102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102
Richieri Costa-Pereira syndrome
Malformation syndrome
3104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104
Robin sequence-oligodactyly syndrome
Malformation syndrome
3201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Malformation syndrome
3253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253
Cleft lip/palate-ectodermal dysplasia syndrome
Malformation syndrome
3316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316
Thomas syndrome
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
3338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338
Toriello-Carey syndrome
Malformation syndrome
3424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424
Velo-facial-skeletal syndrome
Malformation syndrome
3429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429
Verloove Vanhorick-Brubakk syndrome
Malformation syndrome
3448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448
Weaver-Williams syndrome
Malformation syndrome
477993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Malformation syndrome
1415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415
Cholestasis-pigmentary retinopathy-cleft palate syndrome
Malformation syndrome
2015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015
Cleft palate-short stature-vertebral anomalies syndrome
Malformation syndrome
1779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779
Dysmorphism-cleft palate-loose skin syndrome
Malformation syndrome
3263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263
Syngnathia-cleft palate syndrome
Malformation syndrome
503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503
Larsen syndrome
Malformation syndrome
66629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629
Goldberg-Shprintzen megacolon syndrome
Malformation syndrome
77300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Malformation syndrome
79113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113
Mandibulofacial dysostosis-microcephaly syndrome
Malformation syndrome
91494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494
Macular coloboma-cleft palate-hallux valgus syndrome
Malformation syndrome
140963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963
Bilateral microtia-deafness-cleft palate syndrome
Malformation syndrome
163649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Disease
166100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Malformation syndrome
168572
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572
Native American myopathy
Malformation syndrome
306542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Malformation syndrome
324601
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601
X-linked cleft palate and ankyloglossia
Malformation syndrome
508476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Malformation syndrome
1794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794
Oculomaxillofacial dysostosis
Malformation syndrome
140997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Orofaciodigital syndrome
Clinical group
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
141000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Orofaciodigital syndrome type 11
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
141327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Orofaciodigital syndrome type 12
Malformation syndrome
141330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Orofaciodigital syndrome type 13
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
508501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501
Oral-facial-digital syndrome with short stature and brachymesophalangy
Malformation syndrome
141214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214
Isolated congenital syngnathia
Malformation syndrome
276280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280
Hemihyperplasia-multiple lipomatosis syndrome
Malformation syndrome
294963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963
Popliteal pterygium syndrome
Clinical group
1234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Bartsocas-Papas syndrome
Malformation syndrome
1300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300
Autosomal dominant popliteal pterygium syndrome
Malformation syndrome
90652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652
Otopalatodigital syndrome type 2
Malformation syndrome
576278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278
SATB2-associated syndrome
Malformation syndrome
251028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028
SATB2-associated syndrome due to a chromosomal rearrangement
Etiological subtype
576283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283
SATB2-associated syndrome due to a pathogenic variant
Etiological subtype
68335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68335
Rare chromosomal anomaly
Category
1052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052
Mosaic variegated aneuploidy syndrome
Malformation syndrome
96321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96321
Polyploidy
Category
3305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3305
Tetraploidy
Malformation syndrome
3376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376
Triploidy
Malformation syndrome
98127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98127
Autosomal anomaly
Category
363203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363203
Ring chromosome
Category
96172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96172
Ring chromosome 3 syndrome
Malformation syndrome
96173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173
Ring chromosome 9 syndrome
Malformation syndrome
96175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175
Ring chromosome 11 syndrome
Malformation syndrome
96176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176
Ring chromosome 13 syndrome
Malformation syndrome
96177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177
Ring chromosome 15 syndrome
Malformation syndrome
96178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178
Ring chromosome 16 syndrome
Malformation syndrome
251043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043
Ring chromosome 5 syndrome
Malformation syndrome
1442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442
Ring chromosome 18 syndrome
Malformation syndrome
1446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446
Ring chromosome 22 syndrome
Malformation syndrome
1437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437
Ring chromosome 1 syndrome
Malformation syndrome
1438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438
Ring chromosome 10 syndrome
Malformation syndrome
1439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439
Ring chromosome 12 syndrome
Malformation syndrome
1444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444
Ring chromosome 20 syndrome
Malformation syndrome
1447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447
Ring chromosome 4 syndrome
Malformation syndrome
1448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448
Ring chromosome 6 syndrome
Malformation syndrome
1450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450
Ring chromosome 8 syndrome
Malformation syndrome
1445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445
Ring chromosome 21 syndrome
Malformation syndrome
1440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440
Ring chromosome 14 syndrome
Malformation syndrome
1443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443
Ring chromosome 19 syndrome
Malformation syndrome
1449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449
Ring chromosome 7 syndrome
Malformation syndrome
1441
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441
Ring chromosome 17 syndrome
Malformation syndrome
96171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171
Ring chromosome 2 syndrome
Malformation syndrome
98130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98130
Autosomal trisomy
Category
98131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98131
Total autosomal trisomy
Category
3378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378
Trisomy 13
Malformation syndrome
3380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380
Trisomy 18
Malformation syndrome
1703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1703
Mosaic trisomy 14
Malformation syndrome
1692
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692
Mosaic trisomy 1
Malformation syndrome
1698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698
Mosaic trisomy 12
Malformation syndrome
1706
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706
Mosaic trisomy 15
Malformation syndrome
1708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708
Mosaic trisomy 16
Malformation syndrome
1711
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711
Mosaic trisomy 17
Malformation syndrome
1723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723
Mosaic trisomy 2
Malformation syndrome
1724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724
Mosaic trisomy 20
Malformation syndrome
1747
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747
Mosaic trisomy 7
Malformation syndrome
96059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96059
Mosaic trisomy 4
Malformation syndrome
96060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96060
Mosaic trisomy 5
Malformation syndrome
96061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061
Mosaic trisomy 8
Malformation syndrome
96063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96063
Mosaic trisomy 10
Malformation syndrome
96068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96068
Mosaic trisomy 22
Malformation syndrome
99776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99776
Mosaic trisomy 9
Malformation syndrome
100071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071
Mosaic trisomy 3
Malformation syndrome
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
98132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98132
Partial autosomal duplication/triplication
Category
96055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96055
Tetrasomy 21
Malformation syndrome
262191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262191
Partial duplication of chromosome 1
Category
262833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262833
Partial duplication of the long arm of chromosome 1
Category
250994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994
1q21.1 microduplication syndrome
Malformation syndrome
261344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344
Trisomy 1q
Malformation syndrome
264431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264431
Partial duplication of the short arm of chromosome 1
Category
656279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279
1p36.33 duplication syndrome
Disease
96069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96069
Distal duplication 1p36
Malformation syndrome
262196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262196
Partial duplication of chromosome 2
Category
262698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262698
Partial duplication of the short arm of chromosome 2
Category
96070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070
Distal duplication 2p
Malformation syndrome
262842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262842
Partial duplication of the long arm of chromosome 2
Category
96094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96094
Distal duplication 2q
Malformation syndrome
294026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Malformation syndrome
313947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947
2q23.1 microduplication syndrome
Malformation syndrome
262201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262201
Partial duplication of chromosome 3
Category
262707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262707
Partial duplication of the short arm of chromosome 3
Category
96071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96071
Distal duplication 3p
Malformation syndrome
262851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262851
Partial duplication of the long arm of chromosome 3
Category
96095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095
3q26 microduplication syndrome
Malformation syndrome
251038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038
3q29 microduplication syndrome
Malformation syndrome
262206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262206
Partial duplication of chromosome 4
Category
262716
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262716
Partial duplication of the short arm of chromosome 4
Category
1738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738
Trisomy 4p
Malformation syndrome
96072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072
4p16.3 microduplication syndrome
Malformation syndrome
262860
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262860
Partial duplication of the long arm of chromosome 4
Category
96096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96096
Distal duplication 4q
Malformation syndrome
262211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262211
Partial duplication/triplication of chromosome 5
Category
262725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262725
Partial duplication/triplication of the short arm of chromosome 5
Category
1742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742
Trisomy 5p
Malformation syndrome
3309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309
Tetrasomy 5p
Malformation syndrome
329802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802
5p13 microduplication syndrome
Malformation syndrome
262869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262869
Partial duplication of the long arm of chromosome 5
Category
96097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96097
Distal duplication 5q
Malformation syndrome
99027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027
Adult-onset autosomal dominant leukodystrophy
Disease
228415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415
5q35 microduplication syndrome
Malformation syndrome
262628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262628
Partial duplication of chromosome 6
Category
262740
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262740
Partial duplication of the short arm of chromosome 6
Category
1745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745
Distal duplication 6p
Malformation syndrome
262878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262878
Partial duplication of the long arm of chromosome 6
Category
96098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96098
Distal duplication 6q
Malformation syndrome
262633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262633
Partial duplication of chromosome 7
Category
262749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262749
Partial duplication of the short arm of chromosome 7
Category
96074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96074
Distal duplication 7p
Malformation syndrome
231137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137
Silver-Russell syndrome due to 7p11.2p13 microduplication
Etiological subtype
314034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034
7p22.1 microduplication syndrome
Malformation syndrome
262887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262887
Partial duplication of the long arm of chromosome 7
Category
96121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121
7q11.23 microduplication syndrome
Malformation syndrome
261102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102
Distal 7q11.23 microduplication syndrome
Malformation syndrome
262638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262638
Partial duplication of chromosome 8
Category
262758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262758
Partial duplication of the short arm of chromosome 8
Category
251076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076
8p23.1 duplication syndrome
Malformation syndrome
264450
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264450
Trisomy 8p
Malformation syndrome
262896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262896
Partial duplication of the long arm of chromosome 8
Category
1752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752
Trisomy 8q
Malformation syndrome
96100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96100
Distal duplication 8q
Malformation syndrome
228399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399
8q12 microduplication syndrome
Malformation syndrome
262643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262643
Partial duplication/triplication of chromosome 9
Category
262767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262767
Partial duplication/triplication of the short arm of chromosome 9
Category
236
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236
Trisomy 9p
Malformation syndrome
3310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310
Tetrasomy 9p
Malformation syndrome
262905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262905
Partial duplication of the long arm of chromosome 9
Category
96101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96101
Distal duplication 9q
Malformation syndrome
96112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96112
Non-distal duplication 9q
Malformation syndrome
262648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262648
Partial duplication of chromosome 10
Category
262776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262776
Partial duplication of the short arm of chromosome 10
Category
171929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929
Trisomy 10p
Malformation syndrome
262914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262914
Partial duplication of the long arm of chromosome 10
Category
1695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695
Non-distal duplication 10q
Malformation syndrome
1307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307
Distal limb deficiencies-micrognathia syndrome
Malformation syndrome
96102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102
Distal duplication 10q
Malformation syndrome
276422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422
10q22.3q23.3 microduplication syndrome
Malformation syndrome
262653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262653
Partial duplication of chromosome 11
Category
262785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262785
Partial duplication of the short arm of chromosome 11
Category
96076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Etiological subtype
231144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144
Silver-Russell syndrome due to 11p15 microduplication
Etiological subtype
300305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305
11p15.4 microduplication syndrome
Malformation syndrome
262923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262923
Partial duplication of the long arm of chromosome 11
Category
96103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96103
Distal duplication 11q
Malformation syndrome
289522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522
Microtriplication 11q24.1
Malformation syndrome
262658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262658
Partial duplication/triplication of the short arm of chromosome 12
Category
884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884
Tetrasomy 12p
Malformation syndrome
1699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699
Trisomy 12p
Malformation syndrome
262672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262672
Partial duplication of chromosome 16
Category
262794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262794
Partial duplication of the short arm of chromosome 16
Category
96078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078
16p13.3 microduplication syndrome
Malformation syndrome
261204
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204
16p11.2p12.2 microduplication syndrome
Malformation syndrome
261243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243
16p13.11 microduplication syndrome
Malformation syndrome
370079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370079
Proximal 16p11.2 microduplication syndrome
Malformation syndrome
485405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405
16p12.1p12.3 triplication syndrome
Malformation syndrome
262959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262959
Partial duplication of the long arm of chromosome 16
Category
96106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96106
Distal duplication 16q
Malformation syndrome
262677
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262677
Partial duplication of chromosome 17
Category
262803
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262803
Partial duplication of the short arm of chromosome 17
Category
1713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713
17p11.2 microduplication syndrome
Malformation syndrome
101081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081
Charcot-Marie-Tooth disease type 1A
Disease
217385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385
17p13.3 microduplication syndrome
Malformation syndrome
261290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290
Trisomy 17p
Malformation syndrome
262968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262968
Partial duplication of the long arm of chromosome 17
Category
3379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3379
Distal duplication 17q
Malformation syndrome
139474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474
17q11.2 microduplication syndrome
Malformation syndrome
217340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340
17q21.31 microduplication syndrome
Malformation syndrome
238578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578
Familial clubfoot due to 17q23.1q23.2 microduplication
Etiological subtype
261272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272
17q12 microduplication syndrome
Malformation syndrome
477817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817
PMP22-RAI1 contiguous gene duplication syndrome
Malformation syndrome
262682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262682
Partial duplication/triplication of chromosome 18
Category
262812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262812
Partial duplication/triplication of the short arm of chromosome 18
Category
1715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715
Trisomy 18p
Malformation syndrome
3307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307
Tetrasomy 18p
Malformation syndrome
262977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262977
Partial duplication of the long arm of chromosome 18
Category
1716
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716
Distal duplication 18q
Malformation syndrome
262687
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262687
Partial duplication of chromosome 19
Category
262986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262986
Partial duplication of the long arm of chromosome 19
Category
1717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1717
Distal duplication 19q
Malformation syndrome
447985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447985
Partial duplication of the short arm of chromosome 19
Category
447980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980
19p13.3 microduplication syndrome
Malformation syndrome
262692
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262692
Partial duplication of chromosome 20
Category
261318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318
Trisomy 20p
Malformation syndrome
262995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262995
Partial duplication of the long arm of chromosome 20
Category
96107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96107
Distal duplication 20q
Malformation syndrome
363659
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659
20q11.2 microduplication syndrome
Malformation syndrome
262932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262932
Partial duplication of the long arm of chromosome 13
Category
1702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1702
Non-distal duplication 13q
Malformation syndrome
96105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96105
Distal duplication 13q
Malformation syndrome
262941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262941
Partial duplication of the long arm of chromosome 14
Category
1705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705
Distal duplication 14q
Malformation syndrome
261229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229
14q11.2 microduplication syndrome
Malformation syndrome
488280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280
14q32 duplication syndrome
Disease
262950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262950
Partial duplication of the long arm of chromosome 15
Category
238446
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446
15q11q13 microduplication syndrome
Malformation syndrome
314585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585
15q overgrowth syndrome
Malformation syndrome
1707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707
Distal duplication 15q
Etiological subtype
314588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588
Distal triplication 15q
Etiological subtype
263004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263004
Partial duplication of the long arm of chromosome 22
Category
1727
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727
22q11.2 duplication syndrome
Malformation syndrome
96109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96109
Distal duplication 22q
Malformation syndrome
261337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337
Distal 22q11.2 microduplication syndrome
Malformation syndrome
98152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98152
Autosomal uniparental disomy
Category
98153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98153
Maternal uniparental disomy
Category
96179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96179
Maternal uniparental disomy of chromosome 2
Malformation syndrome
96180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96180
Maternal uniparental disomy of chromosome 4
Malformation syndrome
96181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181
Maternal uniparental disomy of chromosome 6
Malformation syndrome
96182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Etiological subtype
96183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96183
Maternal uniparental disomy of chromosome 9
Malformation syndrome
96184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184
Temple syndrome due to maternal uniparental disomy of chromosome 14
Etiological subtype
96185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185
Maternal uniparental disomy of chromosome 16
Malformation syndrome
96186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186
Maternal uniparental disomy of chromosome 20
Malformation syndrome
96187
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187
Maternal uniparental disomy of chromosome 21
Malformation syndrome
96188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188
Maternal uniparental disomy of chromosome 22
Malformation syndrome
97678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97678
Maternal uniparental disomy of chromosome 13
Malformation syndrome
98754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Etiological subtype
231147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Etiological subtype
251009
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009
Maternal uniparental disomy of chromosome 1
Malformation syndrome
98154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98154
Paternal uniparental disomy
Category
96190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96190
Paternal uniparental disomy of chromosome 5
Malformation syndrome
96191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191
Paternal uniparental disomy of chromosome 6
Malformation syndrome
96192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96192
Paternal uniparental disomy of chromosome 7
Malformation syndrome
96193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Etiological subtype
96194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96194
Paternal uniparental disomy of chromosome 20
Malformation syndrome
96195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96195
Paternal uniparental disomy of chromosome 21
Malformation syndrome
96334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Etiological subtype
98795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Etiological subtype
99324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99324
Paternal uniparental disomy of chromosome 13
Malformation syndrome
251004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004
Paternal uniparental disomy of chromosome 1
Malformation syndrome
329813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329813
Mosaic genome-wide paternal uniparental disomy
Malformation syndrome
102020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102020
Autosomal monosomy
Category
98141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98141
Total autosomal monosomy
Category
96123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96123
Monosomy 22
Malformation syndrome
98142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98142
Partial autosomal deletion
Category
261766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261766
Partial deletion of chromosome 1
Category
261857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261857
Partial deletion of the short arm of chromosome 1
Category
1606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606
1p36 deletion syndrome
Malformation syndrome
293948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948
1p21.3 microdeletion syndrome
Malformation syndrome
401986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986
1p31p32 microdeletion syndrome
Malformation syndrome
615986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
Etiological subtype
456298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298
1p35.2 microdeletion syndrome
Malformation syndrome
262001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262001
Partial deletion of the long arm of chromosome 1
Category
36367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367
Distal deletion 1q
Malformation syndrome
238769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769
1q44 microdeletion syndrome
Malformation syndrome
250989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989
1q21.1 microdeletion syndrome
Malformation syndrome
250999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999
1q41q42 microdeletion syndrome
Malformation syndrome
261771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261771
Partial deletion of chromosome 2
Category
261866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261866
Partial deletion of the short arm of chromosome 2
Category
261349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349
2p15p16.1 microdeletion syndrome
Malformation syndrome
363680
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680
2p13.2 microdeletion syndrome
Malformation syndrome
369886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369886
Homozygous 2p21 microdeletion syndrome
Clinical group
238517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517
Hypotonia-cystinuria type 1 syndrome
Clinical group
163690
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690
Hypotonia-cystinuria syndrome
Disease
163693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693
2p21 microdeletion syndrome
Disease
238523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523
Atypical hypotonia-cystinuria syndrome
Disease
369881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881
2p21 microdeletion syndrome without cystinuria
Malformation syndrome
262010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262010
Partial deletion of the long arm of chromosome 2
Category
1001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001
2q37 microdeletion syndrome
Malformation syndrome
1617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617
2q24 microdeletion syndrome
Malformation syndrome
228402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402
2q23.1 microdeletion syndrome
Malformation syndrome
251014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014
2q31.1 microdeletion syndrome
Malformation syndrome
251019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019
2q32q33 microdeletion syndrome
Malformation syndrome
251028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028
SATB2-associated syndrome due to a chromosomal rearrangement
Etiological subtype
261537
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537
Mowat-Wilson syndrome due to monosomy 2q22
Etiological subtype
261776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261776
Partial deletion of chromosome 3
Category
261875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261875
Partial deletion of the short arm of chromosome 3
Category
1620
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620
Distal deletion 3p
Malformation syndrome
435638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638
3p25.3 microdeletion syndrome
Malformation syndrome
262019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262019
Partial deletion of the long arm of chromosome 3
Category
572333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Malformation syndrome
1621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621
3q13 microdeletion syndrome
Malformation syndrome
65286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286
3q29 microdeletion syndrome
Malformation syndrome
356947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356947
3q26q27 microdeletion syndrome
Malformation syndrome
397695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397695
3q27.3 microdeletion syndrome
Disease
261781
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261781
Partial deletion of chromosome 4
Category
261884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261884
Partial deletion of the short arm of chromosome 4
Category
280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280
Wolf-Hirschhorn syndrome
Malformation syndrome
262029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262029
Partial deletion of the long arm of chromosome 4
Category
96145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96145
Distal deletion 4q
Malformation syndrome
238750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750
4q21 microdeletion syndrome
Malformation syndrome
502437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437
4q25 proximal deletion syndrome
Malformation syndrome
261786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261786
Partial deletion of chromosome 5
Category
261893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261893
Partial deletion of the short arm of chromosome 5
Category
281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281
Monosomy 5p
Malformation syndrome
262038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262038
Partial deletion of the long arm of chromosome 5
Category
821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821
Sotos syndrome
Disease
1627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627
Deletion 5q35
Malformation syndrome
228384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384
5q14.3 microdeletion syndrome
Malformation syndrome
261584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584
Familial adenomatous polyposis due to 5q22.2 microdeletion
Etiological subtype
314655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Etiological subtype
436003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003
Contractures-developmental delay-Pierre Robin syndrome
Malformation syndrome
261791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261791
Partial deletion of chromosome 6
Category
261902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261902
Partial deletion of the short arm of chromosome 6
Category
96125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125
Distal deletion 6p
Malformation syndrome
251046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046
6p22 microdeletion syndrome
Malformation syndrome
262047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262047
Partial deletion of the long arm of chromosome 6
Category
75857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857
6q terminal deletion syndrome
Malformation syndrome
171829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
6q16 microdeletion syndrome
Disease
251056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056
6q25 microdeletion syndrome
Malformation syndrome
261796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261796
Partial deletion of chromosome 7
Category
261911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261911
Partial deletion of the short arm of chromosome 7
Category
96126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96126
Distal deletion 7p
Malformation syndrome
658805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805
Greig cephalopolysyndactyly-contiguous gene syndrome
Disease
262056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262056
Partial deletion of the long arm of chromosome 7
Category
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
1636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636
Distal monosomy 7q36
Malformation syndrome
251061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061
7q31 microdeletion syndrome
Malformation syndrome
254351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351
Distal 7q11.23 microdeletion syndrome
Malformation syndrome
261801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261801
Partial deletion of chromosome 8
Category
261920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261920
Partial deletion of the short arm of chromosome 8
Category
251066
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066
8p11.2 deletion syndrome
Malformation syndrome
251071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071
8p23.1 microdeletion syndrome
Malformation syndrome
262065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262065
Partial deletion of the long arm of chromosome 8
Category
502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502
Trichorhinophalangeal syndrome type 2
Malformation syndrome
2496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496
Mesomelia-synostoses syndrome
Malformation syndrome
178303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303
8q22.1 microdeletion syndrome
Malformation syndrome
284160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160
8q21.11 microdeletion syndrome
Malformation syndrome
508488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488
8q24.3 microdeletion syndrome
Malformation syndrome
261806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261806
Partial deletion of chromosome 9
Category
261929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261929
Partial deletion of the short arm of chromosome 9
Category
1642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642
Distal deletion 9p
Malformation syndrome
261112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261112
Monosomy 9p
Malformation syndrome
324313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313
9p13 microdeletion syndrome
Malformation syndrome
262074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262074
Partial deletion of the long arm of chromosome 9
Category
77301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301
Monosomy 9q22.3
Malformation syndrome
96147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147
Kleefstra syndrome due to 9q34 microdeletion
Etiological subtype
352665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Etiological subtype
401923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923
9q31.1q31.3 microdeletion syndrome
Malformation syndrome
495818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818
9q33.3q34.11 microdeletion syndrome
Malformation syndrome
531151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151
9q21.13 microdeletion syndrome
Malformation syndrome
261811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261811
Partial deletion of chromosome 10
Category
261938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261938
Partial deletion of the short arm of chromosome 10
Category
1580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580
Distal deletion 10p
Malformation syndrome
2237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Malformation syndrome
284169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Clinical subtype
262083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262083
Partial deletion of the long arm of chromosome 10
Category
79076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076
Juvenile polyposis of infancy
Clinical subtype
1581
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581
Non-distal deletion 10q
Malformation syndrome
96148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148
Distal deletion 10q
Malformation syndrome
276413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413
10q22.3q23.3 microdeletion syndrome
Malformation syndrome
261816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261816
Partial deletion of chromosome 11
Category
261947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261947
Partial deletion of the short arm of chromosome 11
Category
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
52022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022
Potocki-Shaffer syndrome
Malformation syndrome
231127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Etiological subtype
262092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262092
Partial deletion of the long arm of chromosome 11
Category
2308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308
Jacobsen syndrome
Malformation syndrome
2791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791
Otodental syndrome
Malformation syndrome
851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851
Paris-Trousseau thrombocytopenia
Disease
99806
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806
Oculootodental syndrome
Malformation syndrome
444002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002
11q22.2q22.3 microdeletion syndrome
Malformation syndrome
261826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261826
Partial deletion of chromosome 16
Category
261956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261956
Partial deletion of the short arm of chromosome 16
Category
88924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Disease
98791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Malformation syndrome
261197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197
Proximal 16p11.2 microdeletion syndrome
Malformation syndrome
261211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211
16p11.2p12.2 microdeletion syndrome
Malformation syndrome
261222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222
Distal 16p11.2 microdeletion syndrome
Malformation syndrome
261236
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236
16p13.11 microdeletion syndrome
Malformation syndrome
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
500055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055
Hao-Fountain syndrome due to 16p13.2 microdeletion
Etiological subtype
262128
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262128
Partial deletion of the long arm of chromosome 16
Category
658540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540
16q22 deletion syndrome
Disease
261250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250
16q24.3 microdeletion syndrome
Malformation syndrome
352629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629
16q24.1 microdeletion syndrome
Disease
261831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261831
Partial deletion of chromosome 17
Category
261965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261965
Partial deletion of the short arm of chromosome 17
Category
640
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640
Hereditary neuropathy with liability to pressure palsies
Malformation syndrome
819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819
Smith-Magenis syndrome
Malformation syndrome
531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531
Miller-Dieker syndrome
Malformation syndrome
261257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257
Distal 17p13.3 microdeletion syndrome
Malformation syndrome
319171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171
Distal 17p13.1 microdeletion syndrome
Malformation syndrome
262137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262137
Partial deletion of the long arm of chromosome 17
Category
529962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962
17q24.2 microdeletion syndrome
Malformation syndrome
1597
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597
Distal deletion 17q
Malformation syndrome
97685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685
17q11 microdeletion syndrome
Clinical subtype
261265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265
17q12 microdeletion syndrome
Malformation syndrome
261279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279
17q23.1q23.2 microdeletion syndrome
Malformation syndrome
363958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958
17q21.31 microdeletion syndrome
Etiological subtype
261836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261836
Partial deletion of chromosome 18
Category
261974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261974
Partial deletion of the short arm of chromosome 18
Category
1598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598
Monosomy 18p
Disease
262146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262146
Partial deletion of the long arm of chromosome 18
Category
1600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600
Monosomy 18q
Malformation syndrome
261841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261841
Partial deletion of chromosome 19
Category
261983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261983
Partial deletion of the short arm of chromosome 19
Category
96129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96129
Distal deletion 19p
Malformation syndrome
254346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346
19p13.12 microdeletion syndrome
Malformation syndrome
357001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001
19p13.13 microdeletion syndrome
Malformation syndrome
262155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262155
Partial deletion of the long arm of chromosome 19
Category
217346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346
19q13.11 microdeletion syndrome
Malformation syndrome
261846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261846
Partial deletion of chromosome 20
Category
261992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261992
Partial deletion of the short arm of chromosome 20
Category
261295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295
20p12.3 microdeletion syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
313781
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781
20p13 microdeletion syndrome
Malformation syndrome
262164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262164
Partial deletion of the long arm of chromosome 20
Category
261304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304
Paternal 20q13.2q13.3 microdeletion syndrome
Malformation syndrome
261311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311
20q13.33 microdeletion syndrome
Malformation syndrome
261638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638
Okihiro syndrome due to 20q13 microdeletion
Etiological subtype
444051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051
20q11.2 microdeletion syndrome
Malformation syndrome
262101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262101
Partial deletion of the long arm of chromosome 13
Category
1587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587
Monosomy 13q14
Malformation syndrome
1590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590
Distal deletion 13q
Malformation syndrome
96168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168
Monosomy 13q34
Malformation syndrome
412035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035
13q12.3 microdeletion syndrome
Malformation syndrome
262110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262110
Partial deletion of the long arm of chromosome 14
Category
96150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96150
Distal deletion 14q
Malformation syndrome
254528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Etiological subtype
254525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525
Temple syndrome due to paternal 14q32.2 microdeletion
Etiological subtype
261120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120
14q11.2 microdeletion syndrome
Malformation syndrome
261144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144
FOXG1 syndrome due to 14q12 microdeletion
Clinical subtype
264200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200
14q22q23 microdeletion syndrome
Malformation syndrome
401935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935
14q24.1q24.3 microdeletion syndrome
Malformation syndrome
262119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262119
Partial deletion of the long arm of chromosome 15
Category
1596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596
Distal deletion 15q
Malformation syndrome
94064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064
Deafness-infertility syndrome
Malformation syndrome
94065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065
15q24 microdeletion syndrome
Etiological subtype
98793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
Etiological subtype
177901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Etiological subtype
177904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Etiological subtype
98794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794
Angelman syndrome due to maternal 15q11q13 deletion
Etiological subtype
199318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318
15q13.3 microdeletion syndrome
Malformation syndrome
261183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183
15q11.2 microdeletion syndrome
Malformation syndrome
261190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Clinical subtype
262173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262173
Partial deletion of the long arm of chromosome 21
Category
574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574
21q deletion syndrome
Malformation syndrome
261323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323
21q22.11q22.12 microdeletion syndrome
Malformation syndrome
268261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Etiological subtype
262182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262182
Partial deletion of the long arm of chromosome 22
Category
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
48652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652
Monosomy 22q13.3
Malformation syndrome
261330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330
Distal 22q11.2 microdeletion syndrome
Malformation syndrome
282124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282124
Partial deletion of chromosome 12
Category
261821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261821
Partial deletion of the long arm of chromosome 12
Category
94063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063
12q14 microdeletion syndrome
Malformation syndrome
96149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96149
Distal deletion 12q
Malformation syndrome
96160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96160
Non-distal deletion 12q
Malformation syndrome
289513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513
12q15q21.1 microdeletion syndrome
Malformation syndrome
316244
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316244
Partial deletion of the short arm of chromosome 12
Category
280325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325
Distal deletion 12p
Malformation syndrome
313884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884
12p12.1 microdeletion syndrome
Clinical subtype
263708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263708
Complex chromosomal rearrangement
Category
195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195
Cat-eye syndrome
Malformation syndrome
3306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306
Inverted duplicated chromosome 15 syndrome
Malformation syndrome
96092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092
8p inverted duplication/deletion syndrome
Malformation syndrome
96167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96167
Recombinant 8 syndrome
Malformation syndrome
96170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170
Emanuel syndrome
Malformation syndrome
231130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Etiological subtype
369950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950
Intellectual disability-seizures-macrocephaly-obesity syndrome
Disease
498488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488
Overgrowth syndrome with 2q37 translocation
Malformation syndrome
98155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98155
Sex-chromosome anomaly
Category
98156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98156
Sex-chromosome number anomaly
Category
263714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263714
X chromosome number anomaly
Category
263717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263717
X chromosome number anomaly with female phenotype
Category
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
263723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263723
Polysomy of X chromosome
Category
11
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11
Pentasomy X
Malformation syndrome
9
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9
Tetrasomy X
Malformation syndrome
3375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375
Trisomy X
Malformation syndrome
263720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263720
X chromosome number anomaly with male phenotype
Category
96263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263
48,XXXY syndrome
Malformation syndrome
96264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264
49,XXXXY syndrome
Malformation syndrome
263746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263746
Y chromosome number anomaly
Category
8
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8
47,XYY syndrome
Malformation syndrome
1772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772
45,X/46,XY mixed gonadal dysgenesis
Malformation syndrome
99329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329
48,XYYY syndrome
Malformation syndrome
99330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330
49,XYYYY syndrome
Malformation syndrome
263749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263749
X and Y chromosomal anomaly
Category
10
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10
48,XXYY syndrome
Malformation syndrome
199310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310
Tetragametic chimerism
Malformation syndrome
261534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534
49,XXXYY syndrome
Malformation syndrome
98157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98157
Sex-chromosome structural anomaly
Category
98158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98158
Chromosome Y structural anomaly
Category
1646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646
Partial chromosome Y deletion
Malformation syndrome
96325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96325
Isochromosome Y
Category
98797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98797
Isochromosomy Yp
Malformation syndrome
98798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98798
Isochromosomy Yq
Malformation syndrome
261529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529
Ring chromosome Y syndrome
Malformation syndrome
98159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98159
Chromosome X structural anomaly
Category
96201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201
X small rings
Malformation syndrome
263726
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263726
Partial deletion of chromosome X
Category
263731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263731
Partial deletion of the short arm of the chromosome X
Category
1643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643
Xp22.3 microdeletion syndrome
Malformation syndrome
85332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332
X-linked intellectual disability-retinitis pigmentosa syndrome
Disease
261476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476
Xp21 deletion syndrome
Disease
261501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501
Atypical Norrie disease due to Xp11.3 microdeletion
Malformation syndrome
263756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263756
Partial deletion of the long arm of chromosome X
Category
1018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018
X-linked Alport syndrome-diffuse leiomyomatosis
Clinical subtype
86818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Disease
456328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328
X-linked myotubular myopathy-abnormal genitalia syndrome
Disease
263768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263768
Partial duplication of chromosome X
Category
263775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263775
Partial duplication of the short arm of chromosome X
Category
217377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377
Microduplication Xp11.22p11.23 syndrome
Malformation syndrome
284180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180
Xp22.13p22.2 duplication syndrome
Malformation syndrome
263783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263783
Partial duplication of the long arm of chromosome X
Category
521258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258
Xq25 microduplication syndrome
Malformation syndrome
1762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762
Proximal Xq28 duplication syndrome
Malformation syndrome
261483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483
Xq27.3q28 duplication syndrome
Malformation syndrome
293939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939
Distal Xq28 microduplication syndrome
Malformation syndrome
314389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389
Xq12-q13.3 duplication syndrome
Malformation syndrome
263793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263793
Uniparental disomy of chromosome X
Category
261519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519
Maternal uniparental disomy of chromosome X
Malformation syndrome
261524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524
Paternal uniparental disomy of chromosome X
Malformation syndrome
68341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68341
Multiple congenital anomalies/dysmorphic syndrome
Category
459787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459787
Lethal multiple congenital anomalies/dysmorphic syndrome
Category
2570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Malformation syndrome
580933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933
Lethal brain and heart developmental defects
Malformation syndrome
615954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615954
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Clinical syndrome
615983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
Etiological subtype
615986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
Etiological subtype
527468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468
Diaphragmatic hernia-short bowel-asplenia syndrome
Malformation syndrome
566847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847
Aprosencephaly/atelencephaly spectrum
Morphological anomaly
566852
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852
Atelencephaly
Clinical subtype
566857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857
Aprosencephaly
Clinical subtype
633099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099
PAICS deficiency
Malformation syndrome
480528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528
Lethal hydranencephaly-diaphragmatic hernia syndrome
Malformation syndrome
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
1234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Bartsocas-Papas syndrome
Malformation syndrome
1780
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1780
Thakker-Donnai syndrome
Malformation syndrome
1895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1895
Edinburgh malformation syndrome
Malformation syndrome
1681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1681
Diprosopus
Morphological anomaly
199332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332
Endocrine-cerebro-osteodysplasia syndrome
Malformation syndrome
210144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144
Lethal polymalformative syndrome, Boissel type
Malformation syndrome
444069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Malformation syndrome
33108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108
Lethal multiple pterygium syndrome
Malformation syndrome
1972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972
Lethal faciocardiomelic dysplasia
Malformation syndrome
2432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432
Macrosomia-microphthalmia-cleft palate syndrome
Malformation syndrome
2547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547
Microphthalmia-microtia-fetal akinesia syndrome
Malformation syndrome
3376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376
Triploidy
Malformation syndrome
500135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Malformation syndrome
2077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077
German syndrome
Malformation syndrome
102283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Category
464282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Disease
464288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288
Short stature-brachydactyly-obesity-global developmental delay syndrome
Malformation syndrome
496641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Malformation syndrome
314555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Malformation syndrome
93932
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932
FG syndrome type 1
Disease
72
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72
Angelman syndrome
Malformation syndrome
98794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794
Angelman syndrome due to maternal 15q11q13 deletion
Etiological subtype
98795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Etiological subtype
411515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515
Angelman syndrome due to imprinting defect in 15q11-q13
Etiological subtype
411511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511
Angelman syndrome due to a point mutation
Etiological subtype
280679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Disease
77299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299
Microphthalmia-brain atrophy syndrome
Malformation syndrome
96263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263
48,XXXY syndrome
Malformation syndrome
88618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618
S-adenosylhomocysteine hydrolase deficiency
Disease
96264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264
49,XXXXY syndrome
Malformation syndrome
85282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282
MEHMO syndrome
Malformation syndrome
85285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285
X-linked intellectual disability, Schimke type
Malformation syndrome
85288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288
X-linked intellectual disability, Stocco Dos Santos type
Malformation syndrome
85320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
Malformation syndrome
85323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323
X-linked intellectual disability, Seemanova type
Disease
85324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324
X-linked intellectual disability, Shrimpton type
Malformation syndrome
85297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297
X-linked spinocerebellar ataxia type 3
Malformation syndrome
85327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327
X-linked intellectual disability-acromegaly-hyperactivity syndrome
Disease
163937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937
X-linked intellectual disability, Najm type
Disease
163956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956
X-linked intellectual disability, Nascimento type
Disease
163961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961
X-linked cerebral-cerebellar-coloboma syndrome
Disease
163966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Disease
163971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971
X-linked intellectual disability, Cilliers type
Disease
163976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976
X-linked intellectual disability, Van Esch type
Malformation syndrome
163979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979
X-linked intellectual disability-craniofacioskeletal syndrome
Disease
423655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655
ARX-related encephalopathy-brain malformation spectrum
Clinical group
2508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508
Corpus callosum agenesis-abnormal genitalia syndrome
Malformation syndrome
452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452
X-linked lissencephaly with abnormal genitalia
Malformation syndrome
99329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329
48,XYYY syndrome
Malformation syndrome
139474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474
17q11.2 microduplication syndrome
Malformation syndrome
163649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Disease
163665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665
Spondyloepiphyseal dysplasia tarda, Kohn type
Disease
210548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548
Macrocephaly-intellectual disability-autism syndrome
Disease
250972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972
Polymicrogyria with optic nerve hypoplasia
Malformation syndrome
254516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516
Temple syndrome
Malformation syndrome
96184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184
Temple syndrome due to maternal uniparental disomy of chromosome 14
Etiological subtype
254525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525
Temple syndrome due to paternal 14q32.2 microdeletion
Etiological subtype
254531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531
Temple syndrome due to paternal 14q32.2 hypomethylation
Etiological subtype
313947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947
2q23.1 microduplication syndrome
Malformation syndrome
500159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
Malformation syndrome
324313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313
9p13 microdeletion syndrome
Malformation syndrome
352530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Disease
363528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528
Intellectual disability-strabismus syndrome
Disease
369939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Malformation syndrome
391372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372
FOXP1 Syndrome
Malformation syndrome
391408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Disease
401973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973
MEND syndrome
Malformation syndrome
435628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628
Keppen-Lubinsky syndrome
Malformation syndrome
220493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493
Joubert syndrome with ocular defect
Malformation syndrome
83473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Malformation syndrome
79333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333
COG7-CDG
Disease
53271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271
Muenke syndrome
Malformation syndrome
93473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473
Hurler syndrome
Clinical subtype
276432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432
Ogden syndrome
Malformation syndrome
220497
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497
Joubert syndrome with renal defect
Malformation syndrome
251019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019
2q32q33 microdeletion syndrome
Malformation syndrome
46059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059
Lathosterolosis
Disease
411493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493
Pontocerebellar hypoplasia type 10
Malformation syndrome
139471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471
Microphthalmia with brain and digit anomalies
Malformation syndrome
284339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339
Pontocerebellar hypoplasia type 7
Malformation syndrome
300570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Disease
217335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335
RIN2 syndrome
Malformation syndrome
85194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194
Spondylo-ocular syndrome
Malformation syndrome
228390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Malformation syndrome
397709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Malformation syndrome
397951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951
Microcephaly-thin corpus callosum-intellectual disability syndrome
Disease
397973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Disease
401923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923
9q31.1q31.3 microdeletion syndrome
Malformation syndrome
401935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935
14q24.1q24.3 microdeletion syndrome
Malformation syndrome
404440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404440
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
Malformation syndrome
404443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443
Tatton-Brown-Rahman syndrome
Malformation syndrome
404448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448
ADNP syndrome
Malformation syndrome
404451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Malformation syndrome
404473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473
Severe intellectual disability-progressive spastic diplegia syndrome
Malformation syndrome
496693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Malformation syndrome
411986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Malformation syndrome
412035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035
13q12.3 microdeletion syndrome
Malformation syndrome
420561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561
Temple-Baraitser syndrome
Disease
420794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794
Cono-spondylar dysplasia
Malformation syndrome
423306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
Malformation syndrome
431140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
435938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Malformation syndrome
436141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141
Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
Malformation syndrome
438213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Disease
314655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Etiological subtype
438216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Etiological subtype
439822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822
PDE4D haploinsufficiency syndrome
Malformation syndrome
444002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002
11q22.2q22.3 microdeletion syndrome
Malformation syndrome
444051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051
20q11.2 microdeletion syndrome
Malformation syndrome
444072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072
Cerebellar-facial-dental syndrome
Malformation syndrome
444077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Malformation syndrome
228402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402
2q23.1 microdeletion syndrome
Malformation syndrome
3474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
CHIME syndrome
Malformation syndrome
1246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246
Brachydactyly-nystagmus-cerebellar ataxia syndrome
Malformation syndrome
35107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107
Desmosterolosis
Disease
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
1048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048
Isolated anencephaly/exencephaly
Morphological anomaly
563609
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609
Isolated anencephaly
Clinical subtype
563612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612
Isolated exencephaly
Clinical subtype
35981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981
Polymicrogyria
Clinical group
268940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940
Bilateral polymicrogyria
Morphological anomaly
98889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889
Bilateral perisylvian polymicrogyria
Clinical subtype
101070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070
Bilateral frontoparietal polymicrogyria
Clinical subtype
208441
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441
Bilateral parasagittal parieto-occipital polymicrogyria
Clinical subtype
208444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444
Bilateral frontal polymicrogyria
Clinical subtype
208447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447
Bilateral generalized polymicrogyria
Clinical subtype
268943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943
Unilateral polymicrogyria
Morphological anomaly
101071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071
Unilateral hemispheric polymicrogyria
Clinical subtype
268947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947
Unilateral focal polymicrogyria
Clinical subtype
48431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Malformation syndrome
52055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Malformation syndrome
52503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503
X-linked creatine transporter deficiency
Disease
56304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304
Atelosteogenesis type II
Malformation syndrome
56305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305
Atelosteogenesis type III
Malformation syndrome
66625
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625
Cerebrooculonasal syndrome
Malformation syndrome
66629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629
Goldberg-Shprintzen megacolon syndrome
Malformation syndrome
73246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Malformation syndrome
75389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Malformation syndrome
79113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113
Mandibulofacial dysostosis-microcephaly syndrome
Malformation syndrome
83617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Malformation syndrome
85202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202
Keutel syndrome
Malformation syndrome
85273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273
X-linked intellectual disability, Abidi type
Malformation syndrome
85274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274
Syndromic X-linked intellectual disability 7
Malformation syndrome
85275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275
Microphthalmia-ankyloblepharon-intellectual disability syndrome
Malformation syndrome
85276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276
X-linked intellectual disability, Armfield type
Malformation syndrome
85278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278
Christianson syndrome
Malformation syndrome
85279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279
KDM5C-related syndromic X-linked intellectual disability
Malformation syndrome
85280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
Malformation syndrome
85283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283
X-linked intellectual disability, Miles-Carpenter type
Malformation syndrome
85284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284
BRESEK syndrome
Malformation syndrome
85286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286
X-linked intellectual disability, Shashi type
Malformation syndrome
137634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634
Overgrowth-macrocephaly-facial dysmorphism syndrome
Malformation syndrome
85287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287
X-linked intellectual disability, Siderius type
Malformation syndrome
85293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293
X-linked intellectual disability, Cabezas type
Malformation syndrome
85317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
Malformation syndrome
85319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
Malformation syndrome
85321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321
Deafness-intellectual disability syndrome, Martin-Probst type
Malformation syndrome
85322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322
X-linked intellectual disability, Pai type
Malformation syndrome
85325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325
X-linked intellectual disability, Stevenson type
Malformation syndrome
85326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326
X-linked intellectual disability, Stoll type
Malformation syndrome
85329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
Malformation syndrome
85335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335
Fried syndrome
Malformation syndrome
86818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
Disease
87876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876
Sialidosis type 2
Disease
93399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399
Juvenile sialidosis type 2
Clinical subtype
93400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400
Congenital sialidosis type 2
Clinical subtype
94066
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Malformation syndrome
96125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125
Distal deletion 6p
Malformation syndrome
96169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169
Koolen-De Vries syndrome
Malformation syndrome
363958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958
17q21.31 microdeletion syndrome
Etiological subtype
363965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965
Koolen-De Vries syndrome due to a point mutation
Etiological subtype
97297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297
Bohring-Opitz syndrome
Malformation syndrome
141333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333
Biemond syndrome type 2
Disease
199318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318
15q13.3 microdeletion syndrome
Malformation syndrome
217017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017
Zechi-Ceide syndrome
Malformation syndrome
217340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340
17q21.31 microduplication syndrome
Malformation syndrome
217346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346
19q13.11 microdeletion syndrome
Malformation syndrome
217377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377
Microduplication Xp11.22p11.23 syndrome
Malformation syndrome
217385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385
17p13.3 microduplication syndrome
Malformation syndrome
221120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120
Pseudoaminopterin syndrome
Malformation syndrome
228426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426
Syndromic multisystem autoimmune disease due to Itch deficiency
Disease
254519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519
Kagami-Ogata syndrome
Malformation syndrome
96334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Etiological subtype
254528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Etiological subtype
254534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Etiological subtype
261494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494
Kleefstra syndrome
Malformation syndrome
96147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147
Kleefstra syndrome due to 9q34 microdeletion
Etiological subtype
261652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652
Kleefstra syndrome due to a point mutation
Etiological subtype
280633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633
Multiple congenital anomalies-hypotonia-seizures syndrome
Malformation syndrome
284160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160
8q21.11 microdeletion syndrome
Malformation syndrome
284180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180
Xp22.13p22.2 duplication syndrome
Malformation syndrome
289522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522
Microtriplication 11q24.1
Malformation syndrome
293642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642
Blepharophimosis-intellectual disability syndrome
Clinical group
637013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013
SMARCA2-related blepharophimosis-intellectual disability syndrome
Malformation syndrome
1620
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620
Distal deletion 3p
Malformation syndrome
2728
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728
Blepharophimosis-intellectual disability syndrome, Ohdo type
Malformation syndrome
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
293707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707
Blepharophimosis-intellectual disability syndrome, MKB type
Malformation syndrome
293725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725
Blepharophimosis-intellectual disability syndrome, Verloes type
Malformation syndrome
293843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843
3MC syndrome
Malformation syndrome
300305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305
11p15.4 microduplication syndrome
Malformation syndrome
300496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Malformation syndrome
313781
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781
20p13 microdeletion syndrome
Malformation syndrome
313795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795
Jawad syndrome
Malformation syndrome
314034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034
7p22.1 microduplication syndrome
Malformation syndrome
314575
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Malformation syndrome
314585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585
15q overgrowth syndrome
Malformation syndrome
1707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707
Distal duplication 15q
Etiological subtype
314588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588
Distal triplication 15q
Etiological subtype
314679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679
Cerebrofacioarticular syndrome
Malformation syndrome
319171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171
Distal 17p13.1 microdeletion syndrome
Malformation syndrome
319182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182
Wiedemann-Steiner syndrome
Malformation syndrome
324416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Malformation syndrome
324540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Malformation syndrome
324761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761
Microcephalic primordial dwarfism
Clinical group
808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808
Seckel syndrome
Malformation syndrome
2554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554
Ear-patella-short stature syndrome
Malformation syndrome
2643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643
Microcephalic primordial dwarfism, Toriello type
Malformation syndrome
2636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636
Microcephalic osteodysplastic primordial dwarfism types I and III
Malformation syndrome
2637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637
Microcephalic osteodysplastic primordial dwarfism type II
Malformation syndrome
85172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Disease
319671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671
Alazami syndrome
Malformation syndrome
319675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675
Microcephalic primordial dwarfism, Dauber type
Malformation syndrome
329228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228
Microcephalic primordial dwarfism due to ZNF335 deficiency
Malformation syndrome
468631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631
Microcephalic cortical malformations-short stature due to RTTN deficiency
Malformation syndrome
658595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595
DNMT3A-related microcephalic dwarfism
Malformation syndrome
572761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Malformation syndrome
572768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768
Microcephaly-micromelia syndrome
Clinical subtype
572773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773
Microcephaly-short stature-limb abnormalities syndrome
Clinical subtype
329224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224
Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome
Malformation syndrome
329332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Malformation syndrome
329802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802
5p13 microduplication syndrome
Malformation syndrome
352490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490
Autism spectrum disorder due to AUTS2 deficiency
Disease
352577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577
Bainbridge-Ropers syndrome
Disease
357001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001
19p13.13 microdeletion syndrome
Malformation syndrome
357175
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
Malformation syndrome
363444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Malformation syndrome
363611
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611
CTCF-related neurodevelopmental disorder
Disease
363659
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659
20q11.2 microduplication syndrome
Malformation syndrome
363680
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680
2p13.2 microdeletion syndrome
Malformation syndrome
363686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Disease
363705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705
Craniofaciofrontodigital syndrome
Disease
363741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Disease
811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811
Shwachman-Diamond syndrome
Disease
364028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028
X-linked intellectual disability due to GRIA3 mutations
Disease
364577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577
Intellectual disability-brachydactyly-Pierre Robin syndrome
Malformation syndrome
369837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Malformation syndrome
369891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Malformation syndrome
369950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950
Intellectual disability-seizures-macrocephaly-obesity syndrome
Disease
370010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Malformation syndrome
370927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927
SSR4-CDG
Disease
370930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930
XYLT1-CDG
Disease
371364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364
Hypotonia-speech impairment-severe cognitive delay syndrome
Disease
391307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Malformation syndrome
397612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612
Macrocephaly-developmental delay syndrome
Malformation syndrome
397695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397695
3q27.3 microdeletion syndrome
Disease
228384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384
5q14.3 microdeletion syndrome
Malformation syndrome
48471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471
Lissencephaly
Category
1083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083
Microlissencephaly
Morphological anomaly
89844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844
Lissencephaly syndrome, Norman-Roberts type
Clinical subtype
51577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577
Cobblestone lissencephaly
Clinical group
352682
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682
Cobblestone lissencephaly without muscular or ocular involvement
Disease
352687
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Clinical group
272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272
Congenital muscular dystrophy, Fukuyama type
Malformation syndrome
899
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899
Walker-Warburg syndrome
Disease
588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588
Muscle-eye-brain disease
Malformation syndrome
370997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Disease
86823
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823
Lissencephaly with cerebellar hypoplasia
Clinical group
100011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011
Lissencephaly with cerebellar hypoplasia type A
Malformation syndrome
100012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012
Lissencephaly with cerebellar hypoplasia type B
Malformation syndrome
100013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013
Lissencephaly with cerebellar hypoplasia type C
Malformation syndrome
100014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014
Lissencephaly with cerebellar hypoplasia type D
Malformation syndrome
100015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015
Lissencephaly with cerebellar hypoplasia type E
Malformation syndrome
100016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016
Lissencephaly with cerebellar hypoplasia type F
Malformation syndrome
102009
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009
Classic lissencephaly
Clinical group
572013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Malformation syndrome
2148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148
Lissencephaly type 1 due to doublecortin gene mutation
Disease
531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531
Miller-Dieker syndrome
Malformation syndrome
1084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084
Isolated lissencephaly type 1 without known genetic defects
Disease
95232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232
Lissencephaly due to LIS1 mutation
Disease
102010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010
Other syndrome with lissencephaly as a major feature
Category
1528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528
Craniotelencephalic dysplasia
Malformation syndrome
2510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510
Micro syndrome
Malformation syndrome
2995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995
Baraitser-Winter cerebrofrontofacial syndrome
Malformation syndrome
452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452
X-linked lissencephaly with abnormal genitalia
Malformation syndrome
102011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011
Lissencephaly type 3
Clinical group
2671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671
Neu-Laxova syndrome
Malformation syndrome
583607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Etiological subtype
583612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Etiological subtype
583602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Etiological subtype
86821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Malformation syndrome
86822
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Malformation syndrome
171680
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680
Lissencephaly due to TUBA1A mutation
Malformation syndrome
48652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652
Monosomy 22q13.3
Malformation syndrome
50810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810
Microlissencephaly-micromelia syndrome
Malformation syndrome
60040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040
Megalencephaly-capillary malformation-polymicrogyria syndrome
Malformation syndrome
50811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Lipodystrophy-intellectual disability-deafness syndrome
Disease
36367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367
Distal deletion 1q
Malformation syndrome
79094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094
Grange syndrome
Malformation syndrome
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
50815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815
Branchiogenic deafness syndrome
Malformation syndrome
77298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298
Anophthalmia/microphthalmia-esophageal atresia syndrome
Malformation syndrome
137831
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831
X-linked intellectual disability-cerebellar hypoplasia syndrome
Disease
247262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262
Hyperphosphatasia-intellectual disability syndrome
Disease
436151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Disease
436245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Disease
276630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630
Symptomatic form of Coffin-Lowry syndrome in female carriers
Malformation syndrome
99812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812
LIG4 syndrome
Disease
198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198
Occipital horn syndrome
Disease
42775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775
PHACE syndrome
Malformation syndrome
46627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627
Char syndrome
Malformation syndrome
52022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022
Potocki-Shaffer syndrome
Malformation syndrome
65759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759
Carpenter syndrome
Malformation syndrome
69737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737
Bosley-Salih-Alorainy syndrome
Malformation syndrome
99741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741
King-Denborough syndrome
Malformation syndrome
221139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139
Combined immunodeficiency with facio-oculo-skeletal anomalies
Disease
289553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553
Dysmorphism-conductive hearing loss-heart defect syndrome
Malformation syndrome
398073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073
Prader-Willi-like syndrome
Clinical group
633028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028
CPE-related Prader-Willi-like syndrome
Disease
171829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
6q16 microdeletion syndrome
Disease
398079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079
SIM1-related Prader-Willi-like syndrome
Disease
398069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069
MAGEL2-related Prader-Willi-like syndrome
Disease
401986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986
1p31p32 microdeletion syndrome
Malformation syndrome
420179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179
Malan overgrowth syndrome
Malformation syndrome
436003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003
Contractures-developmental delay-Pierre Robin syndrome
Malformation syndrome
90652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652
Otopalatodigital syndrome type 2
Malformation syndrome
97360
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360
Robinow syndrome
Malformation syndrome
1507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507
Autosomal recessive Robinow syndrome
Clinical subtype
3107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107
Autosomal dominant Robinow syndrome
Clinical subtype
261323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323
21q22.11q22.12 microdeletion syndrome
Malformation syndrome
481152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152
PYCR2-related microcephaly-progressive leukoencephalopathy
Malformation syndrome
83472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472
CAMOS syndrome
Malformation syndrome
79156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156
Seizures-intellectual disability due to hydroxylysinuria syndrome
Disease
1891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891
Intellectual disability-spasticity-ectrodactyly syndrome
Malformation syndrome
2058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058
Fryns-Smeets-Thiry syndrome
Malformation syndrome
3078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078
Severe X-linked intellectual disability, Gustavson type
Malformation syndrome
2701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701
Noonan syndrome-like disorder with loose anagen hair
Malformation syndrome
1512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512
Crane-Heise syndrome
Malformation syndrome
1514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514
Craniodigital-intellectual disability syndrome
Malformation syndrome
1548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Malformation syndrome
1777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777
Temtamy syndrome
Malformation syndrome
1786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786
Acrofacial dysostosis, Catania type
Malformation syndrome
1788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788
Acrofacial dysostosis, Rodríguez type
Malformation syndrome
1825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Malformation syndrome
1970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Malformation syndrome
1973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973
Faciocardiorenal syndrome
Malformation syndrome
2008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008
Acrocardiofacial syndrome
Malformation syndrome
2824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824
Paraplegia-intellectual disability-hyperkeratosis syndrome
Malformation syndrome
2044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044
Floating-Harbor syndrome
Malformation syndrome
2059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059
Fryns syndrome
Malformation syndrome
2067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067
GAPO syndrome
Malformation syndrome
2083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083
Prominent glabella-microcephaly-hypogenitalism syndrome
Malformation syndrome
2107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107
Hall-Riggs syndrome
Malformation syndrome
2115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115
Harrod syndrome
Malformation syndrome
2136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136
Hennekam syndrome
Malformation syndrome
2139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139
Hernández-Aguirre Negrete syndrome
Malformation syndrome
2152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152
Mowat-Wilson syndrome
Malformation syndrome
261537
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537
Mowat-Wilson syndrome due to monosomy 2q22
Etiological subtype
261552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552
Mowat-Wilson syndrome due to a ZEB2 point mutation
Etiological subtype
2166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166
Holoprosencephaly-postaxial polydactyly syndrome
Malformation syndrome
2172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Malformation syndrome
2213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213
Hypertelorism-microtia-facial clefting syndrome
Malformation syndrome
1051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051
Ramos-Arroyo syndrome
Malformation syndrome
2234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Malformation syndrome
2261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261
Hypospadias-intellectual disability, Goldblatt type syndrome
Malformation syndrome
2282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282
Dysmorphism-short stature-deafness-difference of sex development syndrome
Malformation syndrome
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
2316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316
Johnson neuroectodermal syndrome
Malformation syndrome
2322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322
Kabuki syndrome
Malformation syndrome
2323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323
Sanjad-Sakati syndrome
Malformation syndrome
2328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328
Kapur-Toriello syndrome
Malformation syndrome
2332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332
KBG syndrome
Malformation syndrome
2409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409
Lowry-MacLean syndrome
Malformation syndrome
2429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Malformation syndrome
2461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461
Marden-Walker syndrome
Malformation syndrome
2462
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462
Shprintzen-Goldberg syndrome
Malformation syndrome
2463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Malformation syndrome
2471
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471
McDonough syndrome
Malformation syndrome
2489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489
Upper limb defect-eye and ear abnormalities syndrome
Malformation syndrome
2511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511
Microbrachycephaly-ptosis-cleft lip syndrome
Malformation syndrome
2515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515
Microcephaly-cardiomyopathy syndrome
Malformation syndrome
2521
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Malformation syndrome
2522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522
Microcephaly-cervical spine fusion anomalies syndrome
Malformation syndrome
2528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528
Microcephaly-microcornea syndrome, Seemanova type
Malformation syndrome
2533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533
Microcephaly-deafness-intellectual disability syndrome
Malformation syndrome
2588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588
Myhre syndrome
Malformation syndrome
2608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608
N syndrome
Malformation syndrome
2617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617
Microcephalic primordial dwarfism, Montreal type
Malformation syndrome
2658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658
Lenz-Majewski hyperostotic dwarfism
Malformation syndrome
2673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673
Neurofaciodigitorenal syndrome
Malformation syndrome
2707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707
Oculocerebrofacial syndrome, Kaufman type
Malformation syndrome
2712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712
Oculofaciocardiodental syndrome
Malformation syndrome
2714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714
Oculo-palato-cerebral syndrome
Malformation syndrome
2736
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736
Lethal omphalocele-cleft palate syndrome
Malformation syndrome
2743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Malformation syndrome
2804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804
W syndrome
Malformation syndrome
2865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865
Short stature-webbed neck-heart disease syndrome
Malformation syndrome
2871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871
Pfeiffer-Palm-Teller syndrome
Malformation syndrome
2872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872
Cardiocranial syndrome, Pfeiffer type
Malformation syndrome
2920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920
Oliver syndrome
Malformation syndrome
2921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921
Preaxial polydactyly-colobomata-intellectual disability syndrome
Malformation syndrome
2985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985
Pseudoprogeria syndrome
Malformation syndrome
2988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988
Pterygium colli-intellectual disability-digital anomalies syndrome
Malformation syndrome
3038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Malformation syndrome
3041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041
Intellectual disability-balding-patella luxation-acromicria syndrome
Malformation syndrome
3044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Malformation syndrome
3079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079
Intellectual disability, Buenos-Aires type
Malformation syndrome
3080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080
Intellectual disability, Wolff type
Malformation syndrome
3121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121
Ruvalcaba syndrome
Malformation syndrome
3132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132
Say-Barber-Miller syndrome
Malformation syndrome
3134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134
SCARF syndrome
Malformation syndrome
3164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164
Omphalocele syndrome, Shprintzen-Goldberg type
Malformation syndrome
3186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186
Holoprosencephaly-radial heart renal anomalies syndrome
Malformation syndrome
3199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199
Stimmler syndrome
Malformation syndrome
3219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219
Fountain syndrome
Malformation syndrome
3224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Malformation syndrome
3242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242
Renpenning syndrome
Malformation syndrome
93945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945
X-linked intellectual disability, Porteous type
Clinical subtype
93946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946
Hamel cerebro-palato-cardiac syndrome
Clinical subtype
93947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947
X-linked intellectual disability, Golabi-Ito-Hall type
Clinical subtype
93950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950
X-linked intellectual disability, Sutherland-Haan type
Clinical subtype
3255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255
Filippi syndrome
Malformation syndrome
3270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Radioulnar synostosis-developmental delay-hypotonia syndrome
Malformation syndrome
3293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Malformation syndrome
3304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304
Fallot complex-intellectual disability-growth delay syndrome
Malformation syndrome
3369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369
Trigonocephaly-short stature-developmental delay syndrome
Malformation syndrome
3404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404
Ulbright-Hodes syndrome
Malformation syndrome
3409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409
Urban-Rogers-Meyer syndrome
Malformation syndrome
3412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412
VACTERL with hydrocephalus
Malformation syndrome
3433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Malformation syndrome
3434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434
MMEP syndrome
Malformation syndrome
3448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448
Weaver-Williams syndrome
Malformation syndrome
3455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455
Wiedemann-Rautenstrauch syndrome
Malformation syndrome
3473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473
Zimmermann-Laband syndrome
Malformation syndrome
1277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Malformation syndrome
1778
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Malformation syndrome
3074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074
Intellectual disability-short stature-hypertelorism syndrome
Malformation syndrome
2519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519
Microcephaly-seizures-intellectual disability-heart disease syndrome
Malformation syndrome
2898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898
X-linked intellectual disability-plagiocephaly syndrome
Malformation syndrome
2015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015
Cleft palate-short stature-vertebral anomalies syndrome
Malformation syndrome
2427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427
Macrocephaly-short stature-paraplegia syndrome
Malformation syndrome
3051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051
Nicolaides-Baraitser syndrome
Malformation syndrome
1272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272
Aymé-Gripp syndrome
Malformation syndrome
1129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Malformation syndrome
1383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383
Cataract-deafness-hypogonadism syndrome
Malformation syndrome
1123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123
Caudal appendage-deafness syndrome
Malformation syndrome
2729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2729
Okamoto syndrome
Malformation syndrome
2745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745
Opitz GBBB syndrome
Malformation syndrome
3082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082
Intellectual disability-polydactyly-uncombable hair syndrome
Malformation syndrome
3055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Malformation syndrome
2117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117
Hartsfield syndrome
Malformation syndrome
505237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
Malformation syndrome
589442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Malformation syndrome
2710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Oculodentodigital dysplasia
Malformation syndrome
1662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662
Restrictive dermopathy
Disease
3338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338
Toriello-Carey syndrome
Malformation syndrome
556955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955
Pancreatic agenesis-holoprosencephaly syndrome
Disease
544503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503
RNF13-related severe early-onset epileptic encephalopathy
Disease
529962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962
17q24.2 microdeletion syndrome
Malformation syndrome
529965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Malformation syndrome
506358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358
Gabriele-de Vries syndrome
Malformation syndrome
565858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Malformation syndrome
580940
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940
QRICH1-related intellectual disability-chondrodysplasia syndrome
Malformation syndrome
557003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003
Oculoskeletodental syndrome
Disease
562528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Malformation syndrome
562559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Malformation syndrome
562569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Malformation syndrome
500533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
Disease
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
500163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163
Witteveen-Kolk syndrome
Malformation syndrome
94065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065
15q24 microdeletion syndrome
Etiological subtype
500166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166
SIN3A-related intellectual disability syndrome due to a point mutation
Etiological subtype
502430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430
Weiss-Kruszka Syndrome
Malformation syndrome
457193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Malformation syndrome
457240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240
X-linked intellectual disability-short stature-overweight syndrome
Malformation syndrome
457485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Malformation syndrome
457279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Malformation syndrome
457284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Malformation syndrome
457359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Malformation syndrome
457365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Malformation syndrome
457395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Malformation syndrome
1236
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
Malformation syndrome
1964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Malformation syndrome
2896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896
Pitt-Hopkins syndrome
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
502437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437
4q25 proximal deletion syndrome
Malformation syndrome
502434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Malformation syndrome
90650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650
Otopalatodigital syndrome type 1
Malformation syndrome
505248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Malformation syndrome
476126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
Malformation syndrome
477993
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Malformation syndrome
477817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817
PMP22-RAI1 contiguous gene duplication syndrome
Malformation syndrome
480880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Malformation syndrome
480898
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Disease
480907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
Malformation syndrome
300573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573
Polymicrogyria due to TUBB2B mutation
Malformation syndrome
529665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Malformation syndrome
464306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306
DYRK1A-related intellectual disability syndrome
Malformation syndrome
268261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Etiological subtype
464311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311
Intellectual disability syndrome due to a DYRK1A point mutation
Etiological subtype
464738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738
Basel-Vanagaite-Smirin-Yosef syndrome
Malformation syndrome
2479
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479
Megalocornea-intellectual disability syndrome
Malformation syndrome
337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337
Fibrodysplasia ossificans progressiva
Disease
528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528
Congenital generalized lipodystrophy
Disease
475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475
Joubert syndrome
Malformation syndrome
2512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512
Autosomal recessive primary microcephaly
Etiological subtype
239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239
Dyggve-Melchior-Clausen disease
Disease
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847
Alpha-thalassemia-X-linked intellectual disability syndrome
Malformation syndrome
1078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078
Thumb stiffness-brachydactyly-intellectual disability syndrome
Malformation syndrome
908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908
Fragile X syndrome
Malformation syndrome
904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904
Williams syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576
Mucolipidosis type II
Disease
2162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162
Holoprosencephaly
Malformation syndrome
93924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924
Lobar holoprosencephaly
Clinical subtype
93925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925
Alobar holoprosencephaly
Clinical subtype
93926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926
Midline interhemispheric variant of holoprosencephaly
Clinical subtype
220386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386
Semilobar holoprosencephaly
Clinical subtype
280195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195
Septopreoptic holoprosencephaly
Clinical subtype
1465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
Coffin-Siris syndrome
Malformation syndrome
819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819
Smith-Magenis syndrome
Malformation syndrome
36
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Acrocallosal syndrome
Malformation syndrome
193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193
Cohen syndrome
Malformation syndrome
235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235
Dubowitz syndrome
Malformation syndrome
502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502
Trichorhinophalangeal syndrome type 2
Malformation syndrome
2377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377
Laurence-Moon syndrome
Malformation syndrome
3071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071
Costello syndrome
Malformation syndrome
3447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447
Weaver syndrome
Malformation syndrome
373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373
Simpson-Golabi-Behmel syndrome
Malformation syndrome
709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709
Peters plus syndrome
Malformation syndrome
776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776
Lujan-Fryns syndrome
Malformation syndrome
1473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473
Uveal coloboma-cleft lip and palate-intellectual disability
Malformation syndrome
1308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308
C syndrome
Malformation syndrome
1762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762
Proximal Xq28 duplication syndrome
Malformation syndrome
1948
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948
Epilepsy-microcephaly-skeletal dysplasia syndrome
Malformation syndrome
1951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951
Epilepsy-telangiectasia syndrome
Disease
7
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7
3C syndrome
Malformation syndrome
990
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990
Agnathia-holoprosencephaly-situs inversus syndrome
Malformation syndrome
1064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064
Aniridia-renal agenesis-psychomotor retardation syndrome
Malformation syndrome
1110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Malformation syndrome
1131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131
X-linked mandibulofacial dysostosis
Malformation syndrome
1193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193
Atkin-Flaitz syndrome
Malformation syndrome
109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Bannayan-Riley-Ruvalcaba syndrome
Malformation syndrome
1252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252
Blepharonasofacial malformation syndrome
Malformation syndrome
1261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261
Bonnemann-Meinecke-Reich syndrome
Malformation syndrome
127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127
Borjeson-Forssman-Lehmann syndrome
Malformation syndrome
1270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270
Bowen-Conradi syndrome
Malformation syndrome
1296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296
Lambert syndrome
Malformation syndrome
1299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299
Branchioskeletogenital syndrome
Malformation syndrome
1340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340
Cardiofaciocutaneous syndrome
Malformation syndrome
1355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355
Congenital heart defect-round face-developmental delay syndrome
Malformation syndrome
1381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381
Cataract-intellectual disability-anal atresia-urinary defects syndrome
Malformation syndrome
1387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387
Cataract-intellectual disability-hypogonadism syndrome
Malformation syndrome
1388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388
Catel-Manzke syndrome
Malformation syndrome
1389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389
Cortical blindness-intellectual disability-polydactyly syndrome
Malformation syndrome
1394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394
Cerebrofaciothoracic dysplasia
Malformation syndrome
1495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Malformation syndrome
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
447980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980
19p13.3 microduplication syndrome
Malformation syndrome
1184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184
Ataxia-photosensitivity-short stature syndrome
Malformation syndrome
572333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Malformation syndrome
576278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278
SATB2-associated syndrome
Malformation syndrome
251028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028
SATB2-associated syndrome due to a chromosomal rearrangement
Etiological subtype
576283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283
SATB2-associated syndrome due to a pathogenic variant
Etiological subtype
466943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Malformation syndrome
284169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Clinical subtype
466950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Clinical subtype
466688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Malformation syndrome
468678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678
White-Sutton syndrome
Disease
466791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Malformation syndrome
468699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699
SLC39A8-CDG
Disease
3101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101
Richieri Costa-da Silva syndrome
Malformation syndrome
459074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Malformation syndrome
2233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Disease
459070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Malformation syndrome
2318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318
Joubert syndrome with oculorenal defect
Malformation syndrome
459061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Malformation syndrome
642763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763
Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
Malformation syndrome
508488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488
8q24.3 microdeletion syndrome
Malformation syndrome
508498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Malformation syndrome
1321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Malformation syndrome
521258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258
Xq25 microduplication syndrome
Malformation syndrome
521426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426
PLAA-associated neurodevelopmental disorder
Malformation syndrome
488434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434
Camptodactyly syndrome, Guadalajara type 3
Malformation syndrome
488618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618
Transketolase deficiency
Malformation syndrome
488627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Malformation syndrome
488632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632
TBCK-related intellectual disability syndrome
Malformation syndrome
488642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642
TELO2-related intellectual disability-neurodevelopmental disorder
Malformation syndrome
166035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035
Brachydactyly-short stature-retinitis pigmentosa syndrome
Malformation syndrome
506307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307
Stromme syndrome
Malformation syndrome
168624
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624
Familial scaphocephaly syndrome, McGillivray type
Malformation syndrome
500144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Malformation syndrome
500150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Malformation syndrome
453499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Malformation syndrome
352665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Etiological subtype
453504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Etiological subtype
456298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298
1p35.2 microdeletion syndrome
Malformation syndrome
456312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312
Infantile multisystem neurologic-endocrine-pancreatic disease
Disease
280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280
Wolf-Hirschhorn syndrome
Malformation syndrome
508533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
Disease
508542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Disease
513456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Disease
494344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344
RERE-related neurodevelopmental syndrome
Malformation syndrome
494439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Malformation syndrome
485405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405
16p12.1p12.3 triplication syndrome
Malformation syndrome
487796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Malformation syndrome
487825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825
Pierpont syndrome
Malformation syndrome
870
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870
Down syndrome
Malformation syndrome
495818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818
9q33.3q34.11 microdeletion syndrome
Malformation syndrome
495875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
3010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010
Qazi-Markouizos syndrome
Disease
2523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Malformation syndrome
87
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87
Apert syndrome
Malformation syndrome
192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192
Coffin-Lowry syndrome
Malformation syndrome
568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568
Microphthalmia, Lenz type
Malformation syndrome
3019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019
Ramon syndrome
Malformation syndrome
500095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095
Tall stature-intellectual disability-renal anomalies syndrome
Malformation syndrome
1493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493
Vici syndrome
Malformation syndrome
647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647
Nijmegen breakage syndrome
Malformation syndrome
1496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496
Corpus callosum agenesis-neuronopathy syndrome
Disease
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
3207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Malformation syndrome
1488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488
Cooper-Jabs syndrome
Malformation syndrome
2720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720
Oculocerebral hypopigmentation syndrome, Preus type
Malformation syndrome
2719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719
Oculocerebral hypopigmentation syndrome, Cross type
Malformation syndrome
597749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749
KAT6B-related multiple congenital anomalies syndrome
Clinical group
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
85201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201
Genitopatellar syndrome
Malformation syndrome
597746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Malformation syndrome
599082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Malformation syndrome
600731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731
Clark-Baraitser syndrome
Malformation syndrome
603448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Malformation syndrome
2556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556
Microphthalmia with linear skin defects syndrome
Malformation syndrome
1130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130
Arachnodactyly-intellectual disability-dysmorphism syndrome
Malformation syndrome
1229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229
Congenital intrauterine infection-like syndrome
Malformation syndrome
1240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1240
Metaphyseal acroscyphodysplasia
Disease
1399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399
Richards-Rundle syndrome
Malformation syndrome
2249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249
Ulna hypoplasia-intellectual disability syndrome
Malformation syndrome
2278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Malformation syndrome
3363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Malformation syndrome
71267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Malformation syndrome
589905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Disease
589435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
Malformation syndrome
603684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
Malformation syndrome
1812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Malformation syndrome
1947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947
Progressive epilepsy-intellectual disability syndrome, Finnish type
Disease
2773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Malformation syndrome
3085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Malformation syndrome
2518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518
Autosomal recessive chorioretinopathy-microcephaly syndrome
Malformation syndrome
1014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Disease
1305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Feingold syndrome
Malformation syndrome
391641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641
Feingold syndrome type 1
Clinical subtype
391646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646
Feingold syndrome type 2
Clinical subtype
352587
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Disease
1052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052
Mosaic variegated aneuploidy syndrome
Malformation syndrome
3103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103
Roberts syndrome
Malformation syndrome
3472
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472
Yunis-Varon syndrome
Malformation syndrome
2470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Matthew-Wood syndrome
Malformation syndrome
2209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209
Maternal phenylketonuria
Malformation syndrome
2792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792
Otofaciocervical syndrome
Malformation syndrome
2662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662
Keipert syndrome
Malformation syndrome
1438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438
Ring chromosome 10 syndrome
Malformation syndrome
1532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532
Gómez-López-Hernández syndrome
Malformation syndrome
1809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809
Hidrotic ectodermal dysplasia, Halal type
Malformation syndrome
2031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Malformation syndrome
2065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065
Galloway-Mowat syndrome
Malformation syndrome
2090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090
GMS syndrome
Malformation syndrome
2101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101
Grubben-de Cock-Borghgraef syndrome
Malformation syndrome
2324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324
Osteopenia-intellectual disability-sparse hair syndrome
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776
Autosomal recessive distal osteolysis syndrome
Malformation syndrome
2788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788
Osteoporosis-pseudoglioma syndrome
Disease
2798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798
Pachygyria-intellectual disability-epilepsy syndrome
Malformation syndrome
73223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223
Global developmental delay-osteopenia-ectodermal defect syndrome
Malformation syndrome
73230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230
Ossification anomalies-psychomotor developmental delay syndrome
Disease
94063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063
12q14 microdeletion syndrome
Malformation syndrome
2928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
Malformation syndrome
1520
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520
Craniofrontonasal dysplasia
Malformation syndrome
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
3063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063
X-linked intellectual disability, Snyder type
Disease
3417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417
Van den Bosch syndrome
Malformation syndrome
3459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459
Wilson-Turner syndrome
Malformation syndrome
171703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Malformation syndrome
530983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983
Lamb-Shaffer syndrome
Disease
313884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884
12p12.1 microdeletion syndrome
Clinical subtype
313892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892
Developmental and speech delay due to SOX5 deficiency
Clinical subtype
544469
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469
PRUNE1-related neurological syndrome
Malformation syndrome
544488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Disease
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915
Aarskog-Scott syndrome
Malformation syndrome
821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821
Sotos syndrome
Disease
627
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627
Nance-Horan syndrome
Malformation syndrome
140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140
Campomelic dysplasia
Malformation syndrome
1358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358
Carey-Fineman-Ziter syndrome
Malformation syndrome
1307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307
Distal limb deficiencies-micrognathia syndrome
Malformation syndrome
1318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318
Campomelia, Cumming type
Malformation syndrome
1517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517
Cantú syndrome
Malformation syndrome
1790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790
Hypomandibular faciocranial dysostosis
Malformation syndrome
1826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826
Frontometaphyseal dysplasia
Disease
2092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Focal dermal hypoplasia
Malformation syndrome
2180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Malformation syndrome
2306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306
Isotretinoin-like syndrome
Malformation syndrome
561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561
Marshall-Smith syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
353298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298
Roifman syndrome
Disease
589856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Malformation syndrome
611247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247
Pontocerebellar hypoplasia type 11
Malformation syndrome
611207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Clinical syndrome
598603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
Malformation syndrome
611201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201
Oculogastrointestinal-neurodevelopmental syndrome
Malformation syndrome
610569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
Disease
603689
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689
KLHL7-related Bohring-Opitz-like syndrome
Malformation syndrome
191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191
Cockayne syndrome
Disease
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
90321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321
Cockayne syndrome type 1
Clinical subtype
90322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322
Cockayne syndrome type 2
Clinical subtype
90324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324
Cockayne syndrome type 3
Clinical subtype
10
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10
48,XXYY syndrome
Malformation syndrome
2958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
Malformation syndrome
570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570
Moebius syndrome
Disease
813
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813
Silver-Russell syndrome
Disease
96182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Etiological subtype
231137
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137
Silver-Russell syndrome due to 7p11.2p13 microduplication
Etiological subtype
231140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140
Silver-Russell syndrome due to an imprinting defect of 11p15
Etiological subtype
231144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144
Silver-Russell syndrome due to 11p15 microduplication
Etiological subtype
231147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Etiological subtype
397590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590
Silver-Russell syndrome due to a point mutation
Etiological subtype
1713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713
17p11.2 microduplication syndrome
Malformation syndrome
1001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001
2q37 microdeletion syndrome
Malformation syndrome
1005
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005
Alopecia-contractures-dwarfism-intellectual disability syndrome
Malformation syndrome
592570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Malformation syndrome
592574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574
Menke-Hennekam syndrome
Malformation syndrome
597743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Malformation syndrome
597738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738
Luscan-Lumish syndrome
Malformation syndrome
600668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
Disease
1858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858
Skeletal dysplasia-epilepsy-short stature syndrome
Malformation syndrome
1816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Malformation syndrome
2266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266
Hypotrichosis-intellectual disability, Lopes type
Disease
2962
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962
De Barsy syndrome
Disease
35664
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664
ALDH18A1-related De Barsy syndrome
Etiological subtype
293633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633
PYCR1-related De Barsy syndrome
Etiological subtype
3231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231
Deafness-onychodystrophy syndrome
Clinical group
79499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499
Autosomal dominant deafness-onychodystrophy syndrome
Malformation syndrome
79500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500
DOORS syndrome
Malformation syndrome
1568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Malformation syndrome
3052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052
X-linked intellectual disability-seizures-psoriasis syndrome
Disease
457205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Disease
457212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Disease
1553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553
Curry-Jones syndrome
Malformation syndrome
2863
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863
Short stature-wormian bones-dextrocardia syndrome
Malformation syndrome
228410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410
Polyvalvular heart disease syndrome
Malformation syndrome
912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912
Zellweger syndrome
Disease
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
1827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827
Acromelic frontonasal dysplasia
Malformation syndrome
1667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667
Wolcott-Rallison syndrome
Disease
1458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458
CODAS syndrome
Malformation syndrome
2886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886
TARP syndrome
Malformation syndrome
613267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267
Pontocerebellar hypoplasia type 13
Malformation syndrome
613274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274
Pontocerebellar hypoplasia type 14
Malformation syndrome
619233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Disease
646278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278
CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome
Disease
633004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
Disease
633035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035
Intellectual disability-early-onset cataract-microcephaly syndrome
Malformation syndrome
632603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Malformation syndrome
642675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675
CHD8 overgrowth syndrome
Disease
652519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652519
Cleft palate-congenital heart defect-intellectual disability syndrome
Disease
652514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652514
Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
Clinical subtype
261190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Clinical subtype
653712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653712
CHD4-related neurodevelopmental disorder
Disease
653767
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653767
Jansen-de Vries syndrome
Disease
656135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135
Intellectual disability-cupped ears syndrome
Disease
656130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130
PBX1-related congenital anomalies of kidney and urinary tract syndrome
Disease
658540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540
16q22 deletion syndrome
Disease
658843
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843
Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
Disease
2983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983
Difference of sex development-intellectual disability syndrome
Disease
1067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Malformation syndrome
1068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068
Aniridia-intellectual disability syndrome
Malformation syndrome
1484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Malformation syndrome
2149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149
Nodular neuronal heterotopia
Morphological anomaly
98892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892
Periventricular nodular heterotopia
Clinical subtype
101029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029
Sub-cortical nodular heterotopia
Clinical subtype
101030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030
Subependymal nodular heterotopia
Clinical subtype
3042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Malformation syndrome
3177
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177
Spinocerebellar degeneration-corneal dystrophy syndrome
Malformation syndrome
1436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436
X-linked skeletal dysplasia-intellectual disability syndrome
Malformation syndrome
2339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Malformation syndrome
3454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454
Intellectual disability-developmental delay-contractures syndrome
Malformation syndrome
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739
Prader-Willi syndrome
Disease
98754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Etiological subtype
98793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
Etiological subtype
177901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Etiological subtype
177904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Etiological subtype
177907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907
Prader-Willi syndrome due to translocation
Etiological subtype
177910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910
Prader-Willi syndrome due to imprinting mutation
Etiological subtype
920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920
Ablepharon macrostomia syndrome
Malformation syndrome
989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Hypoglossia-hypodactyly syndrome
Malformation syndrome
1300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300
Autosomal dominant popliteal pterygium syndrome
Malformation syndrome
1454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454
Joubert syndrome with hepatic defect
Disease
3138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138
Ulnar-mammary syndrome
Malformation syndrome
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
2538
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538
Microgastria-limb reduction defect syndrome
Malformation syndrome
2326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326
Kallmann syndrome-heart disease syndrome
Malformation syndrome
2502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Malformation syndrome
2715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715
Severe oculo-renal-cerebellar syndrome
Malformation syndrome
2135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135
Hennekam-Beemer syndrome
Malformation syndrome
1106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106
Microphthalmia with limb anomalies
Malformation syndrome
83
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83
Antley-Bixler syndrome
Malformation syndrome
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
596008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Clinical subtype
1292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292
Brachymorphism-onychodysplasia-dysphalangism syndrome
Malformation syndrome
1393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393
Cerebrocostomandibular syndrome
Malformation syndrome
2108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108
Hallermann-Streiff syndrome
Malformation syndrome
2109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109
Hallermann-Streiff-like syndrome
Malformation syndrome
2143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143
Donnai-Barrow syndrome
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2514
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514
Autosomal dominant primary microcephaly
Etiological subtype
2557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557
Mietens syndrome
Malformation syndrome
798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798
Schinzel-Giedion syndrome
Malformation syndrome
102285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102285
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Category
71271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Split hand-split foot-deafness syndrome
Malformation syndrome
2399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399
Nasopalpebral lipoma-coloboma syndrome
Malformation syndrome
2412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412
Dislocation of the hip-dysmorphism syndrome
Malformation syndrome
2437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437
Czeizel-Losonci syndrome
Malformation syndrome
2438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438
Hand-foot-genital syndrome
Malformation syndrome
2457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457
Mandibuloacral dysplasia
Malformation syndrome
90153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153
Mandibuloacral dysplasia with type A lipodystrophy
Clinical subtype
90154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154
Mandibuloacral dysplasia with type B lipodystrophy
Clinical subtype
2470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470
Matthew-Wood syndrome
Malformation syndrome
2473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473
McKusick-Kaufman syndrome
Malformation syndrome
2475
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475
White forelock with malformations
Malformation syndrome
2484
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484
Melnick-Needles syndrome
Malformation syndrome
2491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491
Müllerian duct anomalies-limb anomalies syndrome
Malformation syndrome
2513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513
Microcephaly-albinism-digital anomalies syndrome
Malformation syndrome
2516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516
Microcephaly-cardiac defect-lung malsegmentation syndrome
Malformation syndrome
2549
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549
Oculoauriculovertebral spectrum with radial defects
Malformation syndrome
2561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561
Pyramidal molars-abnormal upper lip syndrome
Malformation syndrome
2616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616
3M syndrome
Malformation syndrome
2631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Malformation syndrome
2662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662
Keipert syndrome
Malformation syndrome
2669
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669
Nephrosis-deafness-urinary tract-digital malformations syndrome
Malformation syndrome
2674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674
Cyprus facial-neuromusculoskeletal syndrome
Malformation syndrome
2699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699
Median nodule of the upper lip
Malformation syndrome
2825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825
PARC syndrome
Malformation syndrome
2832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832
Short tarsus-absence of lower eyelashes syndrome
Malformation syndrome
2868
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2868
Short stature-valvular heart disease-characteristic facies syndrome
Malformation syndrome
2876
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876
PHAVER syndrome
Malformation syndrome
2934
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934
Polysyndactyly-cardiac malformation syndrome
Malformation syndrome
2964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2964
Autosomal dominant prognathism
Malformation syndrome
2990
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990
Autosomal recessive multiple pterygium syndrome
Malformation syndrome
3021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021
RAPADILINO syndrome
Malformation syndrome
3102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102
Richieri Costa-Pereira syndrome
Malformation syndrome
647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647
Nijmegen breakage syndrome
Malformation syndrome
3201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Malformation syndrome
3241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241
Deafness-craniofacial syndrome
Malformation syndrome
3301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301
Tetraamelia-multiple malformations syndrome
Malformation syndrome
3316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316
Thomas syndrome
Malformation syndrome
3326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326
Thymic-renal-anal-lung dysplasia
Malformation syndrome
3328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328
Absent tibia-polydactyly-arachnoid cyst syndrome
Malformation syndrome
3368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368
Trigonocephaly-bifid nose-acral anomalies syndrome
Malformation syndrome
2460
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460
Van den Ende-Gupta syndrome
Malformation syndrome
3424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424
Velo-facial-skeletal syndrome
Malformation syndrome
3429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429
Verloove Vanhorick-Brubakk syndrome
Malformation syndrome
3449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449
Weill-Marchesani syndrome
Malformation syndrome
2062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062
Progressive non-infectious anterior vertebral fusion
Malformation syndrome
1101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Malformation syndrome
3439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439
Von Voss-Cherstvoy syndrome
Malformation syndrome
782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Axenfeld-Rieger syndrome
Malformation syndrome
50814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814
Craniolenticulosutural dysplasia
Malformation syndrome
52047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047
Braddock syndrome
Malformation syndrome
52429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429
Branchiootic syndrome
Malformation syndrome
1655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Malformation syndrome
77300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Malformation syndrome
79094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094
Grange syndrome
Malformation syndrome
79107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107
Developmental malformations-deafness-dystonia syndrome
Malformation syndrome
83619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Malformation syndrome
83628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628
LUMBAR syndrome
Malformation syndrome
99330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330
49,XYYYY syndrome
Malformation syndrome
137776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776
Lethal congenital contracture syndrome type 2
Malformation syndrome
137783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783
Lethal congenital contracture syndrome type 3
Malformation syndrome
140952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Malformation syndrome
166100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Malformation syndrome
178303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303
8q22.1 microdeletion syndrome
Malformation syndrome
217026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Malformation syndrome
217266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266
BNAR syndrome
Malformation syndrome
240760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760
Nijmegen breakage syndrome-like disorder
Malformation syndrome
264200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200
14q22q23 microdeletion syndrome
Malformation syndrome
280558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558
Warsaw breakage syndrome
Malformation syndrome
314002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314002
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Malformation syndrome
65798
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65798
Goodman syndrome
Malformation syndrome
380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380
Greig cephalopolysyndactyly syndrome
Malformation syndrome
508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508
Leprechaunism
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
52
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52
Alagille syndrome
Malformation syndrome
261600
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600
Alagille syndrome due to 20p12 microdeletion
Etiological subtype
261619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619
Alagille syndrome due to a JAG1 point mutation
Etiological subtype
261629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629
Alagille syndrome due to a NOTCH2 point mutation
Etiological subtype
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245
Nager syndrome
Malformation syndrome
1135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1135
Arrhinia-choanal atresia-microphthalmia syndrome
Malformation syndrome
1146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146
Distal arthrogryposis type 1
Malformation syndrome
1406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406
Charlie M syndrome
Malformation syndrome
246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246
Postaxial acrofacial dysostosis
Malformation syndrome
2053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053
Freeman-Sheldon syndrome
Malformation syndrome
560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560
Marshall syndrome
Malformation syndrome
887
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887
VACTERL/VATER association
Malformation syndrome
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
3440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440
Waardenburg syndrome
Disease
894
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894
Waardenburg syndrome type 1
Clinical subtype
895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895
Waardenburg syndrome type 2
Clinical subtype
896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896
Waardenburg syndrome type 3
Clinical subtype
888
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888
Van der Woude syndrome
Malformation syndrome
184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184
Cherubism
Malformation syndrome
392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Holt-Oram syndrome
Malformation syndrome
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
1354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354
Heart defects-limb shortening syndrome
Malformation syndrome
916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916
Aase-Smith syndrome
Malformation syndrome
921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921
Abruzzo-Erickson syndrome
Malformation syndrome
949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949
Acrocraniofacial dysostosis
Malformation syndrome
952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952
Acrofacial dysostosis, Weyers type
Malformation syndrome
958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958
Acro-renal-mandibular syndrome
Malformation syndrome
959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959
Acro-renal-ocular syndrome
Malformation syndrome
971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971
Acrorenal syndrome
Malformation syndrome
991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991
PAGOD syndrome
Malformation syndrome
994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994
Fetal akinesia deformation sequence
Malformation syndrome
1094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094
Anonychia-microcephaly syndrome
Malformation syndrome
1104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104
Anophthalmia plus syndrome
Malformation syndrome
1200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200
Burn-McKeown syndrome
Malformation syndrome
1231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231
Barber-Say syndrome
Malformation syndrome
1237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237
Beemer-Ertbruggen syndrome
Malformation syndrome
1241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241
Bencze syndrome
Malformation syndrome
1248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248
Maxillonasal dysplasia
Malformation syndrome
1253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253
Ascher syndrome
Malformation syndrome
1295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295
Brachytelephalangy-dysmorphism-Kallmann syndrome
Malformation syndrome
1297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297
Branchio-oculo-facial syndrome
Malformation syndrome
1326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326
Camptodactyly syndrome, Guadalajara type 2
Malformation syndrome
1327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327
Camptodactyly syndrome, Guadalajara type 1
Malformation syndrome
1335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335
Pentalogy of Cantrell
Malformation syndrome
1338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338
Heart defect-tongue hamartoma-polysyndactyly syndrome
Malformation syndrome
1342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342
Heart-hand syndrome type 3
Malformation syndrome
1350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350
Heart-hand syndrome type 2
Malformation syndrome
1352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Malformation syndrome
1373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373
Cataract-aberrant oral frenula-growth delay syndrome
Malformation syndrome
1390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390
Night blindness-skeletal anomalies-dysmorphism syndrome
Malformation syndrome
1458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458
CODAS syndrome
Malformation syndrome
1486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486
Lethal congenital contracture syndrome type 1
Malformation syndrome
1493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493
Vici syndrome
Malformation syndrome
1519
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519
SPECC1L-related hypertelorism syndrome
Malformation syndrome
1529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529
Craniofacial-deafness-hand syndrome
Malformation syndrome
1547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Malformation syndrome
1555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Malformation syndrome
1563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563
Dahlberg-Borer-Newcomer syndrome
Malformation syndrome
1974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974
Autosomal recessive faciodigitogenital syndrome
Malformation syndrome
1988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988
Femoral-facial syndrome
Malformation syndrome
1995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995
Cleft lip-retinopathy syndrome
Malformation syndrome
1997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997
Blepharo-cheilo-odontic syndrome
Malformation syndrome
2001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Malformation syndrome
2007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Malformation syndrome
2016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016
Cleft palate-lateral synechia syndrome
Malformation syndrome
2025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025
Gingival fibromatosis-facial dysmorphism syndrome
Malformation syndrome
2036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036
Scalp-ear-nipple syndrome
Malformation syndrome
2050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050
Cole-Carpenter syndrome
Malformation syndrome
1791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791
Frontofacionasal dysplasia
Malformation syndrome
2057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Malformation syndrome
2064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Malformation syndrome
2075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075
Genitopalatocardiac syndrome
Malformation syndrome
2091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091
Multinodular goiter-cystic kidney-polydactyly syndrome
Malformation syndrome
376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376
Gordon syndrome
Malformation syndrome
2095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095
Gorlin-Chaudhry-Moss syndrome
Malformation syndrome
2994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994
Short stature-craniofacial anomalies-genital hypoplasia syndrome
Malformation syndrome
2141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141
Diaphragmatic defect-limb deficiency-skull defect syndrome
Malformation syndrome
2150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150
Hirschsprung disease-type D brachydactyly syndrome
Malformation syndrome
2155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155
Hirschsprung disease-deafness-polydactyly syndrome
Malformation syndrome
2167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167
Holzgreve syndrome
Malformation syndrome
2181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181
Hydrocephaly-tall stature-joint laxity syndrome
Malformation syndrome
2211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211
Hypertelorism-hypospadias-polysyndactyly syndrome
Malformation syndrome
2252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Malformation syndrome
2256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Malformation syndrome
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
2272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272
Ichthyosis-oral and digital anomalies syndrome
Malformation syndrome
2319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319
Juberg-Hayward syndrome
Malformation syndrome
2353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353
Schilbach-Rott syndrome
Malformation syndrome
2363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Lacrimoauriculodentodigital syndrome
Malformation syndrome
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
2703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Malformation syndrome
2717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717
Oculotrichoanal syndrome
Malformation syndrome
496693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Malformation syndrome
1323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323
Camptodactyly-joint contractures-facial skeletal defects syndrome
Malformation syndrome
141132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132
Oculo-auriculo-vertebral spectrum
Malformation syndrome
2104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2104
Dysmorphism-pectus carinatum-joint laxity syndrome
Malformation syndrome
2835
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Malformation syndrome
1968
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1968
Flat face-microstomia-ear anomaly syndrome
Malformation syndrome
1969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1969
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Malformation syndrome
397623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Malformation syndrome
3023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023
External auditory canal atresia-vertical talus-hypertelorism syndrome
Malformation syndrome
2793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793
Otoonychoperoneal syndrome
Malformation syndrome
496751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751
EVEN-plus syndrome
Malformation syndrome
508476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Malformation syndrome
658805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805
Greig cephalopolysyndactyly-contiguous gene syndrome
Disease
647811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811
Cardiac-urogenital syndrome
Disease
567502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Disease
521438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438
Congenital vertebral-cardiac-renal anomalies syndrome
Malformation syndrome
3191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191
Subaortic stenosis-short stature syndrome
Malformation syndrome
643503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643503
Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
Disease
68378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68378
Congenital limb malformation
Category
109009
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109009
Syndrome with limb malformations as a major feature
Category
1325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1325
Camptodactyly-taurinuria syndrome
Malformation syndrome
1927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927
Emery-Nelson syndrome
Malformation syndrome
2251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251
Thumb deformity-alopecia-pigmentation anomaly syndrome
Malformation syndrome
3294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294
Extensor tendons of finger anomalies
Malformation syndrome
69028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028
Dysostosis with brachydactyly
Category
498451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498451
Dysostosis with brachydactyly without extraskeletal manifestations
Category
1570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570
Symbrachydactyly of hands and feet
Malformation syndrome
633211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211
Preaxial digit brachydactyly-webbed fingers
Malformation syndrome
93396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396
Brachydactyly type A2
Malformation syndrome
93394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394
Brachydactyly type A4
Malformation syndrome
93382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382
Brachydactyly type A6
Malformation syndrome
93397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397
Brachydactyly type A7
Malformation syndrome
498602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602
Sugarman brachydactyly
Morphological anomaly
2565
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565
Mononen-Karnes-Senac syndrome
Malformation syndrome
85169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169
Familial digital arthropathy-brachydactyly
Malformation syndrome
1275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275
Brachydactyly-elbow wrist dysplasia syndrome
Malformation syndrome
93388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388
Brachydactyly type A1
Malformation syndrome
93383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383
Brachydactyly type B
Malformation syndrome
140908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908
Brachydactyly type B2
Clinical subtype
572385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385
Brachydactyly type B1
Clinical subtype
93384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384
Brachydactyly type C
Malformation syndrome
93387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387
Brachydactyly type E
Malformation syndrome
1487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487
Cooks syndrome
Malformation syndrome
1319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319
Camptobrachydactyly
Malformation syndrome
498454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498454
Dysostosis with brachydactyly with extraskeletal manifestations
Category
589608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Disease
166035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035
Brachydactyly-short stature-retinitis pigmentosa syndrome
Malformation syndrome
364577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577
Intellectual disability-brachydactyly-Pierre Robin syndrome
Malformation syndrome
444077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Malformation syndrome
1001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001
2q37 microdeletion syndrome
Malformation syndrome
247262
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262
Hyperphosphatasia-intellectual disability syndrome
Disease
1276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276
Brachydactyly-arterial hypertension syndrome
Malformation syndrome
363417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417
Temtamy preaxial brachydactyly syndrome
Malformation syndrome
1465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465
Coffin-Siris syndrome
Malformation syndrome
3433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Malformation syndrome
1078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078
Thumb stiffness-brachydactyly-intellectual disability syndrome
Malformation syndrome
1278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278
Brachydactyly-preaxial hallux varus syndrome
Malformation syndrome
2956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956
Acrodysplasia scoliosis
Malformation syndrome
1292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292
Brachymorphism-onychodysplasia-dysphalangism syndrome
Malformation syndrome
1858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858
Skeletal dysplasia-epilepsy-short stature syndrome
Malformation syndrome
2946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946
Brachydactyly-long thumb syndrome
Malformation syndrome
52056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056
Ulnar/fibula ray defect-brachydactyly syndrome
Malformation syndrome
1305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305
Feingold syndrome
Malformation syndrome
391641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641
Feingold syndrome type 1
Clinical subtype
391646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646
Feingold syndrome type 2
Clinical subtype
2438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438
Hand-foot-genital syndrome
Malformation syndrome
1295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295
Brachytelephalangy-dysmorphism-Kallmann syndrome
Malformation syndrome
2911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911
Poland syndrome
Malformation syndrome
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
93459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459
Syndrome with synostosis or other joint formation defect
Category
75496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Clinical subtype
1228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228
Banki syndrome
Malformation syndrome
1275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275
Brachydactyly-elbow wrist dysplasia syndrome
Malformation syndrome
1412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412
Tarsal-carpal coalition syndrome
Malformation syndrome
2760
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760
OSLAM syndrome
Malformation syndrome
2900
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900
Leri pleonosteosis
Malformation syndrome
3237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237
Multiple synostoses syndrome
Malformation syndrome
3246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246
Symphalangism with multiple anomalies of hands and feet
Malformation syndrome
3250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250
Proximal symphalangism
Malformation syndrome
3268
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268
Radioulnar synostosis-microcephaly-scoliosis syndrome
Malformation syndrome
3270
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270
Radioulnar synostosis-developmental delay-hypotonia syndrome
Malformation syndrome
71289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Malformation syndrome
3466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466
WT limb-blood syndrome
Disease
109007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109007
Arthrogryposis syndrome
Category
97120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97120
Distal arthrogryposis
Clinical group
3200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200
Arthrogryposis-ectodermal dysplasia syndrome
Malformation syndrome
562528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Malformation syndrome
65743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743
Autosomal dominant multiple pterygium syndrome
Malformation syndrome
2840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Malformation syndrome
1146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146
Distal arthrogryposis type 1
Malformation syndrome
1147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147
Sheldon-Hall syndrome
Malformation syndrome
1154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Malformation syndrome
2053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053
Freeman-Sheldon syndrome
Malformation syndrome
1144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Malformation syndrome
115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115
Congenital contractural arachnodactyly
Malformation syndrome
376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376
Gordon syndrome
Malformation syndrome
3377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377
Trismus-pseudocamptodactyly syndrome
Malformation syndrome
2953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953
Musculocontractural Ehlers-Danlos syndrome
Disease
65720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720
Arthrogryposis-severe scoliosis syndrome
Malformation syndrome
251515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515
Distal arthrogryposis type 10
Malformation syndrome
329457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457
Distal arthrogryposis type 5D
Disease
370943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Disease
294060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294060
Multiple pterygium syndrome
Clinical group
2990
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990
Autosomal recessive multiple pterygium syndrome
Malformation syndrome
33108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108
Lethal multiple pterygium syndrome
Malformation syndrome
65743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743
Autosomal dominant multiple pterygium syndrome
Malformation syndrome
79447
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79447
X-linked lethal multiple pterygium syndrome
Malformation syndrome
294963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963
Popliteal pterygium syndrome
Clinical group
1234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234
Bartsocas-Papas syndrome
Malformation syndrome
1300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300
Autosomal dominant popliteal pterygium syndrome
Malformation syndrome
294965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294965
Lethal congenital contracture syndrome
Clinical group
1486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486
Lethal congenital contracture syndrome type 1
Malformation syndrome
137776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776
Lethal congenital contracture syndrome type 2
Malformation syndrome
137783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783
Lethal congenital contracture syndrome type 3
Malformation syndrome
2077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077
German syndrome
Malformation syndrome
488586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488586
Congenital amyoplasia
Malformation syndrome
1037
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037
Arthrogryposis multiplex congenita
Clinical group
2547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547
Microphthalmia-microtia-fetal akinesia syndrome
Malformation syndrome
1143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143
Neurogenic arthrogryposis multiplex congenita
Disease
1145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145
Infantile-onset X-linked spinal muscular atrophy
Disease
1149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149
Kuskokwim syndrome
Malformation syndrome
1150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150
Arthrogryposis multiplex congenita-whistling face syndrome
Malformation syndrome
2215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215
Multiple pterygium-malignant hyperthermia syndrome
Malformation syndrome
2461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461
Marden-Walker syndrome
Malformation syndrome
2697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697
Arthrogryposis-renal dysfunction-cholestasis syndrome
Malformation syndrome
2952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952
Adducted thumbs-arthrogryposis syndrome, Christian type
Malformation syndrome
2460
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460
Van den Ende-Gupta syndrome
Malformation syndrome
3454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454
Intellectual disability-developmental delay-contractures syndrome
Malformation syndrome
1485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485
Arthrogryposis-hyperkeratosis syndrome, lethal form
Malformation syndrome
2680
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680
Hypomyelination neuropathy-arthrogryposis syndrome
Malformation syndrome
53696
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696
Arthrogryposis-anterior horn cell disease syndrome
Malformation syndrome
319332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332
Autosomal recessive myogenic arthrogryposis multiplex congenita
Disease
439897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Malformation syndrome
210163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163
Congenital lethal myopathy, Compton-North type
Disease
994
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994
Fetal akinesia deformation sequence
Malformation syndrome
611256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256
Pontocerebellar hypoplasia type 12
Malformation syndrome
498693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498693
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Disease
610569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
Disease
486811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Disease
199315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315
Familial clubfoot with or without associated lower limb anomalies
Malformation syndrome
238578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578
Familial clubfoot due to 17q23.1q23.2 microduplication
Etiological subtype
293144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144
Familial clubfoot due to 5q31 microdeletion
Etiological subtype
293150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150
Familial clubfoot due to PITX1 point mutation
Etiological subtype
228184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184
Heart-hand syndrome
Category
392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Holt-Oram syndrome
Malformation syndrome
1342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342
Heart-hand syndrome type 3
Malformation syndrome
1350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350
Heart-hand syndrome type 2
Malformation syndrome
2946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946
Brachydactyly-long thumb syndrome
Malformation syndrome
168796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796
Heart-hand syndrome, Slovenian type
Malformation syndrome
228190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Malformation syndrome
319340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340
Carney complex-trismus-pseudocamptodactyly syndrome
Disease
294955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955
Syndrome with limb reduction defects
Category
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
496693
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Malformation syndrome
1354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354
Heart defects-limb shortening syndrome
Malformation syndrome
3320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320
Thrombocytopenia-absent radius syndrome
Malformation syndrome
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
3103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103
Roberts syndrome
Malformation syndrome
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978
ADULT syndrome
Malformation syndrome
988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Malformation syndrome
989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989
Hypoglossia-hypodactyly syndrome
Malformation syndrome
1071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Malformation syndrome
1072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Clinical subtype
1074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Clinical subtype
1112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Malformation syndrome
1113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113
Aphalangy-syndactyly-microcephaly syndrome
Malformation syndrome
1972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972
Lethal faciocardiomelic dysplasia
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
1988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988
Femoral-facial syndrome
Malformation syndrome
2063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063
Splenogonadal fusion-limb defects-micrognathia syndrome
Malformation syndrome
2249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249
Ulna hypoplasia-intellectual disability syndrome
Malformation syndrome
2307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307
IVIC syndrome
Malformation syndrome
2310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310
Absence deformity of leg-cataract syndrome
Malformation syndrome
2329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329
Karsch-Neugebauer syndrome
Malformation syndrome
392
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392
Holt-Oram syndrome
Malformation syndrome
2564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564
Tetramelic monodactyly
Malformation syndrome
2639
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639
Fibular aplasia-complex brachydactyly syndrome
Malformation syndrome
2730
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730
Postaxial tetramelic oligodactyly
Malformation syndrome
2839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839
Pelvis-shoulder dysplasia
Malformation syndrome
2854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854
Fuhrmann syndrome
Malformation syndrome
2878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Malformation syndrome
2879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879
Phocomelia, Schinzel type
Malformation syndrome
3015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015
Radio-renal syndrome
Malformation syndrome
3016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016
Absent radius-anogenital anomalies syndrome
Malformation syndrome
3021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021
RAPADILINO syndrome
Malformation syndrome
3138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138
Ulnar-mammary syndrome
Malformation syndrome
3301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301
Tetraamelia-multiple malformations syndrome
Malformation syndrome
3312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312
Thalidomide embryopathy
Malformation syndrome
3328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328
Absent tibia-polydactyly-arachnoid cyst syndrome
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
3383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383
Humerus trochlea aplasia
Malformation syndrome
71271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Split hand-split foot-deafness syndrome
Malformation syndrome
93293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293
Okihiro syndrome
Malformation syndrome
261638
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638
Okihiro syndrome due to 20q13 microdeletion
Etiological subtype
261647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647
Okihiro syndrome due to a point mutation
Etiological subtype
93333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333
Pelviscapular dysplasia
Malformation syndrome
238744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744
Mammary-digital-nail syndrome
Malformation syndrome
329319
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319
Thrombocythemia with distal limb defects
Disease
199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199
Cornelia de Lange syndrome
Malformation syndrome
1891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891
Intellectual disability-spasticity-ectrodactyly syndrome
Malformation syndrome
2492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492
FATCO syndrome
Malformation syndrome
508542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Disease
221139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139
Combined immunodeficiency with facio-oculo-skeletal anomalies
Disease
1326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326
Camptodactyly syndrome, Guadalajara type 2
Malformation syndrome
294957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957
Dysostosis with combined reduction defects of upper and lower limbs
Category
1027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1027
Autosomal recessive amelia
Malformation syndrome
1118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118
Fibular aplasia-ectrodactyly syndrome
Malformation syndrome
1121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121
Radial deficiency-tibial hypoplasia syndrome
Malformation syndrome
1122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122
Ulnar hypoplasia-split foot syndrome
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
2019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019
Femur-fibula-ulna complex
Malformation syndrome
3329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329
Tibial aplasia-ectrodactyly syndrome
Malformation syndrome
294959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Category
658805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805
Greig cephalopolysyndactyly-contiguous gene syndrome
Disease
567502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Disease
85203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203
Acropectoral syndrome
Malformation syndrome
93409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409
Brachydactyly-syndactyly, Zhao type
Malformation syndrome
140952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Malformation syndrome
140997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997
Orofaciodigital syndrome
Clinical group
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919
Orofaciodigital syndrome type 5
Malformation syndrome
2756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756
Orofaciodigital syndrome type 10
Malformation syndrome
141000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000
Orofaciodigital syndrome type 11
Malformation syndrome
141007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007
Orofaciodigital syndrome type 9
Malformation syndrome
141327
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327
Orofaciodigital syndrome type 12
Malformation syndrome
141330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330
Orofaciodigital syndrome type 13
Malformation syndrome
434179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179
Orofaciodigital syndrome type 14
Malformation syndrome
508501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501
Oral-facial-digital syndrome with short stature and brachymesophalangy
Malformation syndrome
357332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Malformation syndrome
369979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Malformation syndrome
420584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
564
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564
Meckel syndrome
Malformation syndrome
36
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36
Acrocallosal syndrome
Malformation syndrome
957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957
Acropectorovertebral dysplasia
Malformation syndrome
1003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003
Scalp defects-postaxial polydactyly syndrome
Malformation syndrome
1113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113
Aphalangy-syndactyly-microcephaly syndrome
Malformation syndrome
1388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388
Catel-Manzke syndrome
Malformation syndrome
1527
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527
Craniosynostosis, Philadelphia type
Malformation syndrome
1566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566
Dandy-Walker malformation-postaxial polydactyly syndrome
Malformation syndrome
1757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757
Fibular dimelia-diplopodia syndrome
Malformation syndrome
1892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892
Ectrodactyly-polydactyly syndrome
Malformation syndrome
1986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986
Gollop-Wolfgang complex
Malformation syndrome
380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380
Greig cephalopolysyndactyly syndrome
Malformation syndrome
2110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110
Hallux varus-preaxial polysyndactyly syndrome
Malformation syndrome
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363
Lacrimoauriculodentodigital syndrome
Malformation syndrome
2378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378
Laurin-Sandrow syndrome
Malformation syndrome
2854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854
Fuhrmann syndrome
Malformation syndrome
2917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917
Polydactyly-myopia syndrome
Malformation syndrome
2920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920
Oliver syndrome
Malformation syndrome
2935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935
Crossed polysyndactyly
Malformation syndrome
2947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947
Triphalangeal thumbs-brachyectrodactyly syndrome
Malformation syndrome
2957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957
Guttmacher syndrome
Malformation syndrome
3004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Malformation syndrome
3168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168
Sillence syndrome
Malformation syndrome
3172
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172
Eyebrow duplication-syndactyly syndrome
Malformation syndrome
3246
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246
Symphalangism with multiple anomalies of hands and feet
Malformation syndrome
3255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255
Filippi syndrome
Malformation syndrome
3258
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258
Cenani-Lenz syndrome
Malformation syndrome
3328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328
Absent tibia-polydactyly-arachnoid cyst syndrome
Malformation syndrome
3259
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259
Syndactyly-polydactyly-ear lobe syndrome
Malformation syndrome
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
71271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Split hand-split foot-deafness syndrome
Malformation syndrome
2492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492
FATCO syndrome
Malformation syndrome
476119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Malformation syndrome
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
444941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941
Caudal regression-sirenomelia spectrum
Clinical group
3169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169
Sirenomelia
Malformation syndrome
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
1768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768
Familial caudal dysgenesis
Malformation syndrome
465824
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824
Fetal encasement syndrome
Malformation syndrome
592570
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Malformation syndrome
109011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109011
Non-syndromic limb malformation
Category
86789
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789
Patella aplasia/hypoplasia
Morphological anomaly
93457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457
Non-syndromic limb reduction defect
Category
498457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498457
Longitudinal limb defect
Category
2130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130
Hemimelia
Clinical group
93320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320
Ulnar hemimelia
Morphological anomaly
93321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321
Radial hemimelia
Morphological anomaly
93322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322
Tibial hemimelia
Morphological anomaly
93323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323
Fibular hemimelia
Morphological anomaly
294988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988
Congenital hypoplasia of thumb
Morphological anomaly
498461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498461
Terminal transverse limb defect
Category
294925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925
Amelia
Clinical group
294967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967
Amelia of upper limb
Morphological anomaly
294969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969
Amelia of lower limb
Morphological anomaly
294971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971
Tetra-amelia
Morphological anomaly
973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973
Congenital absence/hypoplasia of fingers excluding thumb, unilateral
Morphological anomaly
295000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000
Constriction rings syndrome
Malformation syndrome
498491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491
Complete hemimelia
Category
294981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981
Congenital absence of both lower leg and foot
Morphological anomaly
294979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979
Congenital absence of both forearm and hand
Morphological anomaly
294983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983
Acheiria
Morphological anomaly
294986
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986
Apodia
Morphological anomaly
931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931
Acheiropodia
Morphological anomaly
294927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927
Intercalary limb defects
Clinical group
294973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973
Humeral agenesis/hypoplasia
Morphological anomaly
294975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975
Congenital absence of upper arm and forearm with hand present
Morphological anomaly
294977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977
Congenital absence of thigh and lower leg with foot present
Morphological anomaly
1987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987
Femoral agenesis/hypoplasia
Malformation syndrome
633228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228
Proximal femoral focal deficiency
Morphological anomaly
93458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458
Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Category
2913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913
Non-syndromic polydactyly
Category
498464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498464
Non-syndromic preaxial polydactyly
Category
93336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336
Polydactyly of a triphalangeal thumb
Morphological anomaly
93337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337
Polydactyly of an index finger
Morphological anomaly
93338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338
Polysyndactyly
Morphological anomaly
93339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339
Polydactyly of a biphalangeal thumb and/or hallux
Morphological anomaly
498467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498467
Non-syndromic postaxial polydactyly
Category
93334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334
Postaxial polydactyly type A
Morphological anomaly
93335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335
Postaxial polydactyly type B
Morphological anomaly
498470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498470
Non-syndromic complex polydactyly
Category
295004
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004
Central polydactyly
Morphological anomaly
498494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494
Mirror-image polydactyly
Morphological anomaly
90025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025
Non-syndromic syndactyly
Category
2498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498
Syndactyly type 8
Morphological anomaly
93402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402
Syndactyly type 1
Morphological anomaly
295187
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187
Zygodactyly type 1
Clinical subtype
295189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189
Zygodactyly type 2
Clinical subtype
295191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191
Zygodactyly type 3
Clinical subtype
295193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193
Zygodactyly type 4
Clinical subtype
93403
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403
Syndactyly type 2
Morphological anomaly
295195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195
Synpolydactyly type 1
Clinical subtype
295197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197
Synpolydactyly type 2
Clinical subtype
295199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199
Synpolydactyly type 3
Clinical subtype
93404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404
Syndactyly type 3
Morphological anomaly
93405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405
Syndactyly type 4
Morphological anomaly
93406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406
Syndactyly type 5
Morphological anomaly
157801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801
Mesoaxial synostotic syndactyly with phalangeal reduction
Morphological anomaly
295012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012
Syndactyly type 6
Morphological anomaly
295002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002
Hyperphalangy
Morphological anomaly
157808
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808
Congenital pseudoarthrosis of the limbs
Morphological anomaly
295018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018
Congenital pseudoarthrosis of the tibia
Clinical subtype
295020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020
Congenital pseudoarthrosis of the femur
Clinical subtype
295022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022
Congenital pseudoarthrosis of the fibula
Clinical subtype
295024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024
Congenital pseudoarthrosis of the radius
Clinical subtype
295026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026
Congenital pseudoarthrosis of the ulna
Clinical subtype
294944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294944
Congenital deformities of limbs
Category
178382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382
Congenital vertical talus
Morphological anomaly
295201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201
Congenital vertical talus, unilateral
Clinical subtype
295203
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203
Congenital vertical talus, bilateral
Clinical subtype
294947
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294947
Congenital deformities of fingers
Category
295014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295014
Familial isolated clinodactyly of fingers
Morphological anomaly
295016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295016
Camptodactyly of fingers
Morphological anomaly
294949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949
Joint formation defects
Category
3248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248
Distal symphalangism
Morphological anomaly
3265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265
Humero-radial synostosis
Morphological anomaly
3266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266
Humero-radio-ulnar synostosis
Morphological anomaly
3269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269
Congenital radioulnar synostosis
Morphological anomaly
295217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295217
Radio-ulnar synostosis, unilateral
Clinical subtype
295219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295219
Radio-ulnar synostosis, bilateral
Clinical subtype
94056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056
Humero-ulnar synostosis
Morphological anomaly
295213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295213
Humero-ulnar synostosis, unilateral
Clinical subtype
295215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295215
Humero-ulnar synostosis, bilateral
Clinical subtype
217059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059
Isolated congenital digital clubbing
Morphological anomaly
295028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028
Tibio-fibular synostosis
Morphological anomaly
294951
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294951
Congenital joint dislocations
Category
295030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295030
True congenital shoulder dislocation
Morphological anomaly
295032
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295032
Isolated congenital radial head dislocation
Morphological anomaly
295225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295225
Congenital elbow dislocation, unilateral
Clinical subtype
295227
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295227
Congenital elbow dislocation, bilateral
Clinical subtype
295034
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295034
Congenital knee dislocation
Morphological anomaly
295229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295229
Congenital genu recurvatum
Clinical subtype
295232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295232
Congenital genu flexum
Clinical subtype
295036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295036
Congenital patella dislocation
Morphological anomaly
294953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294953
Non syndromic limb overgrowth
Category
295044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295044
Macrodactyly of fingers
Morphological anomaly
295239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239
Macrodactyly of fingers, unilateral
Clinical subtype
295241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295241
Macrodactyly of fingers, bilateral
Clinical subtype
295047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295047
Macrodactyly of toes
Morphological anomaly
295243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243
Macrodactyly of toes, unilateral
Clinical subtype
295245
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295245
Macrodactyly of toes, bilateral
Clinical subtype
295049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295049
Upper limb hypertrophy
Morphological anomaly
295051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295051
Lower limb hypertrophy
Morphological anomaly
364198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198
Bipartite talus
Morphological anomaly
68419
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68419
Vascular anomaly or angioma
Category
458844
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458844
Rare vascular malformation of major vessels
Category
98724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724
Congenital anomaly of the great arteries
Category
1132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132
Aortic arch defects
Category
99075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075
Encircling double aortic arch
Morphological anomaly
99076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076
Persistent fifth aortic arch
Morphological anomaly
99077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077
Kommerell diverticulum
Morphological anomaly
99078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078
Neuhauser anomaly
Morphological anomaly
99079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079
Cervical aortic arch
Morphological anomaly
99081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081
Right aortic arch
Morphological anomaly
99082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082
Dysphagia lusoria
Morphological anomaly
185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185
Scimitar syndrome
Malformation syndrome
95485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485
Arterial duct anomaly
Category
95486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486
Premature closure of the arterial duct
Morphological anomaly
99072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072
Congenital patent ductus arteriosus aneurysm
Morphological anomaly
466729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729
Familial patent arterial duct
Morphological anomaly
98718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718
Aortic malformation
Category
3193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193
Supravalvular aortic stenosis
Morphological anomaly
1457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457
Aorta coarctation
Morphological anomaly
1455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1455
Autosomal dominant coarctation of aorta
Clinical subtype
1456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456
Atypical coarctation of aorta
Clinical subtype
2299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299
Aortic arch interruption
Morphological anomaly
3092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092
Fixed subaortic stenosis
Morphological anomaly
99051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051
Discrete fixed membranous subaortic stenosis
Clinical subtype
99052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052
Discrete fibromuscular subaortic stenosis
Clinical subtype
99053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053
Tunnel subaortic stenosis
Clinical subtype
3093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093
Congenital aortic valve stenosis
Morphological anomaly
95448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448
Congenital aortic valve atresia
Clinical subtype
101043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043
Congenital aortic valve dysplasia
Clinical subtype
402075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075
Familial bicuspid aortic valve
Morphological anomaly
542568
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568
Quadricuspid aortic valve
Morphological anomaly
98719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719
Pulmonary artery or pulmonary branch anomaly
Category
1208
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208
Pulmonary atresia-intact ventricular septum syndrome
Morphological anomaly
982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982
Pulmonary valve agenesis
Clinical group
99048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Malformation syndrome
101206
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Malformation syndrome
980
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980
Absence of the pulmonary artery
Morphological anomaly
3189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189
Congenital pulmonary valvar stenosis
Morphological anomaly
3190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190
Subpulmonary stenosis
Clinical subtype
3192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192
Supravalvular pulmonary stenosis
Clinical subtype
99054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054
Valvular pulmonary stenosis
Clinical subtype
1676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676
Idiopathic pulmonary artery dilatation
Disease
99083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083
Pulmonary artery hypoplasia
Morphological anomaly
99084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084
Peripheral pulmonary stenosis
Morphological anomaly
98725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725
Ascending aorta anomaly
Category
1054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054
Aneurysm of sinus of Valsalva
Morphological anomaly
3093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093
Congenital aortic valve stenosis
Morphological anomaly
95448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448
Congenital aortic valve atresia
Clinical subtype
101043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043
Congenital aortic valve dysplasia
Clinical subtype
3400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400
Aorto-ventricular tunnel
Morphological anomaly
99070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070
Aorto-right ventricular tunnel
Clinical subtype
99071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071
Aorto-left ventricular tunnel
Clinical subtype
363189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189
Congenital anomaly of the great veins
Category
3091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091
Congenital systemic veins anomaly
Category
95498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498
Congenital anomaly of superior vena cava
Category
652668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668
Primary superior vena cava aneurysm
Malformation syndrome
99109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
Morphological anomaly
99110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110
Right superior vena cava connecting to left-sided atrium
Morphological anomaly
99111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111
Persistent left superior vena cava connecting to the roof of left-sided atrium
Morphological anomaly
99112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112
Absence of innominate vein
Morphological anomaly
99113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113
Subaortic course of innominate vein
Morphological anomaly
99114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114
Agenesis of the superior vena cava
Morphological anomaly
95499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499
Congenital anomaly of the inferior vena cava
Category
652678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678
Primary inferior vena cava aneurysm
Morphological anomaly
99119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119
Right inferior vena cava connecting to left-sided atrium
Morphological anomaly
99120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120
Persistent eustachian valve
Morphological anomaly
99121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121
Azygos continuation of the inferior vena cava
Morphological anomaly
99122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122
Congenital stenosis of the inferior vena cava
Morphological anomaly
99123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123
Inferior vena cava interruption without azygos continuation
Morphological anomaly
95500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500
Congenital anomaly of the coronary sinus
Category
99117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117
Coronary sinus stenosis
Morphological anomaly
99118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118
Coronary sinus atresia
Morphological anomaly
95507
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507
Congenital anomaly of hepatic vein
Morphological anomaly
480531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531
Congenital portosystemic shunt
Morphological anomaly
98729
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729
Congenital pulmonary veins anomaly
Category
3090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090
Congenital pulmonary venous return anomaly
Clinical group
99124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124
Congenital partial pulmonary venous return anomaly
Morphological anomaly
99125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125
Congenital total pulmonary venous return anomaly
Morphological anomaly
185
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185
Scimitar syndrome
Malformation syndrome
3188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188
Congenital pulmonary veins atresia or stenosis
Clinical group
99126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126
Congenital pulmonary vein atresia
Morphological anomaly
642071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071
Primary pulmonary vein stenosis
Disease
981
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981
Internal carotid absence
Morphological anomaly
97598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598
Congenital renal artery stenosis
Disease
494424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424
Extracranial carotid artery aneurysm
Morphological anomaly
458837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458837
Rare combined vascular malformation
Clinical group
211277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211277
Complex vascular malformation with associated anomalies
Category
168984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984
CLAPO syndrome
Malformation syndrome
137608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Malformation syndrome
2346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346
Angioosteohypertrophic syndrome
Clinical group
90307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307
Parkes Weber syndrome
Disease
90308
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308
Klippel-Trénaunay syndrome
Disease
75508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75508
Angioosteohypotrophic syndrome
Malformation syndrome
109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109
Bannayan-Riley-Ruvalcaba syndrome
Malformation syndrome
86914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914
Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
Malformation syndrome
744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744
Proteus syndrome
Malformation syndrome
140944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944
CLOVES syndrome
Malformation syndrome
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
211237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211237
Rare vascular tumor
Category
2123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123
Diffuse neonatal hemangiomatosis
Malformation syndrome
1063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063
Tufted angioma
Disease
2122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122
Kaposiform hemangioendothelioma
Disease
71213
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213
Retinal capillary malformation
Disease
458758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758
Composite hemangioendothelioma
Disease
458763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763
Retiform hemangioendothelioma
Disease
157791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791
Epithelioid hemangioendothelioma
Disease
210589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210589
Infantile hemangioma of rare localization
Clinical group
140436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436
Primary intraosseous venous malformation
Disease
137935
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935
Laryngotracheal angioma
Disease
1062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062
Hereditary neurocutaneous malformation
Disease
33276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276
Kaposi sarcoma
Disease
458768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768
Primary intralymphatic angioendothelioma
Disease
263413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413
Angiosarcoma
Disease
458775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458775
Congenital hemangioma
Clinical group
458785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785
Partially involuting congenital hemangioma
Disease
141184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184
Rapidly involuting congenital hemangioma
Disease
141179
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179
Non-involuting congenital hemangioma
Disease
210584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210584
Spindle cell hemangioma
Disease
458827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458827
Vascular tumor with associated anomalies
Category
83628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628
LUMBAR syndrome
Malformation syndrome
329324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329324
Inverse Klippel-Trénaunay syndrome
Disease
42775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775
PHACE syndrome
Malformation syndrome
464318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318
Verrucous hemangioma
Disease
464329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329
Kaposiform lymphangiomatosis
Disease
211243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211243
Simple vascular malformation
Category
211247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211247
Rare capillary malformation
Category
95429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429
Angioma serpiginosum
Disease
624
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624
Familial multiple nevi flammei
Morphological anomaly
458830
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458830
Rare capillary malformation with associated anomalies
Category
2703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Malformation syndrome
60040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040
Megalencephaly-capillary malformation-polymicrogyria syndrome
Malformation syndrome
3205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205
Sturge-Weber syndrome
Malformation syndrome
294016
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016
Microcephaly-capillary malformation syndrome
Malformation syndrome
276280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280
Hemihyperplasia-multiple lipomatosis syndrome
Malformation syndrome
774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774
Hereditary hemorrhagic telangiectasia
Disease
1556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556
Cutis marmorata telangiectatica congenita
Malformation syndrome
137667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667
Capillary malformation-arteriovenous malformation
Malformation syndrome
211252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211252
Rare venous malformation
Category
221061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061
Familial cerebral cavernous malformation
Malformation syndrome
1059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059
Blue rubber bleb nevus
Malformation syndrome
2451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451
Mucocutaneous venous malformations
Malformation syndrome
83454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454
Glomuvenous malformation
Malformation syndrome
217008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008
Bockenheimer syndrome
Malformation syndrome
211255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211255
Rare lymphatic system anomaly
Category
77240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240
Primary lymphedema
Category
568041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568041
Primary lymphedema without systemic or visceral involvement
Category
2416
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2416
Congenital primary lymphedema without systemic or visceral involvement
Clinical group
79452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452
Milroy disease
Disease
569821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821
Congenital primary lymphedema of Gordon
Disease
2526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526
Microcephaly-lymphedema-chorioretinopathy syndrome
Malformation syndrome
2077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077
German syndrome
Malformation syndrome
289825
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289825
Late-onset primary lymphedema without systemic or visceral involvement
Clinical group
1414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414
Cholestasis-lymphedema syndrome
Disease
90186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186
Meige disease
Disease
569816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816
CELSR1-related late-onset primary lymphedema
Disease
568051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051
GJC2-related late-onset primary lymphedema
Disease
3226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226
Deafness-lymphedema-leukemia syndrome
Malformation syndrome
33001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001
Lymphedema-distichiasis syndrome
Malformation syndrome
99141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141
Lymphedema-posterior choanal atresia syndrome
Malformation syndrome
568044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568044
Primary lymphedema with systemic or visceral involvement
Category
1563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563
Dahlberg-Borer-Newcomer syndrome
Malformation syndrome
1116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Disease
2136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136
Hennekam syndrome
Malformation syndrome
568065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065
EPHB4-related lymphatic-related hydrops fetalis
Disease
568062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
Disease
568056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
Disease
662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662
Yellow nail syndrome
Disease
69735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Disease
86915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915
Lymphedema-atrial septal defects-facial changes syndrome
Malformation syndrome
568047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568047
Disorder with multisystemic involvement and primary lymphedema
Category
487796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Malformation syndrome
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
Disease
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742
Prolidase deficiency
Disease
1340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340
Cardiofaciocutaneous syndrome
Malformation syndrome
1655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Malformation syndrome
69088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease
2710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Oculodentodigital dysplasia
Malformation syndrome
99807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807
PEHO-like syndrome
Disease
2836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836
PEHO syndrome
Disease
48652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652
Monosomy 22q13.3
Malformation syndrome
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
2415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2415
Rare lymphatic malformation
Category
458833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833
Common cystic lymphatic malformation
Clinical group
79489
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489
Macrocystic lymphatic malformation
Malformation syndrome
79490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490
Microcystic lymphatic malformation
Malformation syndrome
458792
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792
Mixed cystic lymphatic malformation
Malformation syndrome
464321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Disease
141209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141209
Diffuse lymphatic malformation
Malformation syndrome
73
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73
Gorham-Stout disease
Malformation syndrome
99141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141
Lymphedema-posterior choanal atresia syndrome
Malformation syndrome
211266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211266
Rare arteriovenous malformation
Category
2038
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038
Pulmonary arteriovenous malformation
Morphological anomaly
46724
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724
Cerebral arteriovenous malformation
Morphological anomaly
1053
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053
Vein of Galen aneurysmal malformation
Morphological anomaly
97339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339
Dural sinus malformation
Morphological anomaly
53721
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721
Spinal arteriovenous metameric syndrome
Malformation syndrome
79093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093
Foix-Alajouanine syndrome
Malformation syndrome
141189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189
Cerebrofacial arteriovenous metameric syndrome
Clinical group
53719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719
Wyburn-Mason syndrome
Malformation syndrome
141194
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194
Cerebrofacial arteriovenous metameric syndrome type 1
Malformation syndrome
141199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141199
Cerebrofacial arteriovenous metameric syndrome type 3
Malformation syndrome
156230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156230
Facial arteriovenous malformation
Clinical group
141168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141168
Frontonasal arteriovenous malformation
Malformation syndrome
141171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141171
Maxillary arteriovenous malformation
Malformation syndrome
141174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141174
Mandibular arteriovenous malformation
Malformation syndrome
98731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98731
Congenital arteriovenous fistula
Category
2039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2039
Congenital systemic arteriovenous fistula
Morphological anomaly
52662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52662
Rare teratologic disease
Category
232035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232035
Infectious embryofetopathy
Category
295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295
Fetal parvovirus syndrome
Malformation syndrome
290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290
Congenital rubella syndrome
Disease
858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858
Congenital toxoplasmosis
Disease
291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291
Congenital varicella syndrome
Disease
293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293
Congenital herpes simplex virus infection
Disease
294
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294
Fetal cytomegalovirus syndrome
Disease
292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=292
Congenital enterovirus infection
Disease
70596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70596
Congenital Epstein-Barr virus infection
Disease
499009
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499009
Congenital syphilis
Disease
251529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251529
Toxic or drug-related embryofetopathy
Category
485358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358
Propylthiouracil embryofetopathy
Malformation syndrome
1915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915
Fetal alcohol syndrome
Malformation syndrome
1908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908
Aminopterin/methotrexate embryofetopathy
Malformation syndrome
1909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909
Indomethacin embryofetopathy
Malformation syndrome
1910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910
Fetal iodine syndrome
Malformation syndrome
1911
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911
Cocaine embryofetopathy
Malformation syndrome
1918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918
Fetal minoxidil syndrome
Malformation syndrome
1914
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914
Vitamin K antagonist embryofetopathy
Malformation syndrome
1916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916
Diethylstilbestrol syndrome
Malformation syndrome
1917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917
Fetal methylmercury syndrome
Malformation syndrome
1920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920
Toluene embryopathy
Malformation syndrome
1923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923
Methimazole embryofetopathy
Malformation syndrome
2305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305
Isotretinoin syndrome
Malformation syndrome
3312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312
Thalidomide embryopathy
Malformation syndrome
40366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40366
Acitretin/etretinate embryopathy
Malformation syndrome
268249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268249
Mycophenolate mofetil embryopathy
Malformation syndrome
370068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370068
Fetal anticonvulsant syndrome
Clinical group
1906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906
Fetal valproate spectrum disorder
Malformation syndrome
1912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912
Fetal hydantoin syndrome
Malformation syndrome
1913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913
Fetal trimethadione syndrome
Malformation syndrome
1919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919
Phenobarbital embryopathy
Malformation syndrome
370076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370076
Fetal carbamazepine syndrome
Malformation syndrome
251535
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251535
Maternal disease-related embryofetopathy
Category
1926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926
Diabetic embryopathy
Malformation syndrome
2209
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209
Maternal phenylketonuria
Malformation syndrome
2216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216
Maternal hyperthermia-induced birth defects
Malformation syndrome
83001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83001
Urogenital tract malformation
Category
165704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704
Non-syndromic urogenital tract malformation
Category
182117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182117
Non-syndromic urogenital tract malformation of female
Category
180065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065
Non-syndromic uterovaginal malformation
Category
1916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916
Diethylstilbestrol syndrome
Malformation syndrome
73217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217
Müllerian aplasia
Clinical group
180068
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068
Partial bilateral aplasia of the Müllerian ducts
Clinical group
3109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109
Mayer-Rokitansky-Küster-Hauser syndrome
Malformation syndrome
2578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Clinical subtype
247775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Clinical subtype
247768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768
Müllerian aplasia and hyperandrogenism
Malformation syndrome
180071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071
Unilateral aplasia of the Müllerian ducts
Clinical group
180074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074
True unicornuate uterus
Morphological anomaly
180079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079
Pseudounicornuate uterus
Morphological anomaly
180122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122
Septate uterus
Clinical group
180126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126
Complete septate uterus
Morphological anomaly
180129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129
Partial septate uterus
Morphological anomaly
180134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134
Bicornuate uterus
Clinical group
180086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086
Didelphys uterus
Morphological anomaly
180106
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106
Bicervical bicornuate uterus and blind hemivagina
Clinical subtype
180111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111
Bicervical bicornuate uterus with patent cervix and vagina
Clinical subtype
180114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114
Unicervical bicornuate uterus
Morphological anomaly
180139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139
Uterine hypoplasia
Morphological anomaly
180142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142
Absence of uterine body
Morphological anomaly
180145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145
Uterine cervical aplasia and agenesis
Morphological anomaly
180151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151
Rare vaginal malformation
Category
65681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681
Vaginal atresia
Morphological anomaly
96269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269
Isolated partial vaginal agenesis
Morphological anomaly
180154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154
Septate vagina
Morphological anomaly
180157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157
Longitudinal vaginal septum
Clinical subtype
180160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160
Transverse vaginal septum
Clinical subtype
603515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515
Isolated female hypospadias
Morphological anomaly
647794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647794
Isolated persistent urogenital sinus
Morphological anomaly
182121
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182121
Non-syndromic urogenital tract malformation of male
Category
48
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48
Congenital bilateral absence of vas deferens
Morphological anomaly
2842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842
Penoscrotal transposition
Morphological anomaly
49
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49
Penile agenesis
Morphological anomaly
227
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227
Diphallia
Morphological anomaly
95706
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706
Non-syndromic posterior hypospadias
Morphological anomaly
95707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707
Idiopathic isolated micropenis
Morphological anomaly
495879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879
Congenital agenesis of the scrotum
Morphological anomaly
182124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182124
Non-syndromic urogenital tract malformation of male and female
Category
322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322
Exstrophy-epispadias complex
Malformation syndrome
93928
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928
Isolated epispadias
Clinical subtype
93929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929
Cloacal exstrophy
Clinical subtype
93930
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930
Bladder exstrophy
Clinical subtype
237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237
Duplication of urethra
Morphological anomaly
617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617
Congenital primary megaureter
Morphological anomaly
238642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642
Primary megaureter, adult-onset form
Clinical subtype
238646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646
Congenital primary megaureter, obstructed form
Clinical subtype
238650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650
Congenital primary megaureter, refluxing form
Clinical subtype
238654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654
Congenital primary megaureter, nonrefluxing and unobstructed form
Clinical subtype
544578
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578
Congenital primary megaureter, refluxing and obstructed form
Clinical subtype
289365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365
Familial vesicoureteral reflux
Malformation syndrome
435365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365
Fetal lower urinary tract obstruction
Clinical group
2970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970
Prune belly syndrome
Malformation syndrome
105
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105
Atresia of urethra
Morphological anomaly
93110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110
Posterior urethral valve
Morphological anomaly
435372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372
Anterior urethral valve
Morphological anomaly
435743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743
Congenital urachal anomaly
Category
488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488
Urachal cyst
Morphological anomaly
431341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341
Patent urachus
Morphological anomaly
431344
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344
Urachal sinus
Morphological anomaly
431347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347
Urachal diverticulum
Morphological anomaly
165707
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165707
Syndromic urogenital tract malformation
Category
597743
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
Malformation syndrome
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
915
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915
Aarskog-Scott syndrome
Malformation syndrome
1046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046
Lethal hemolytic anemia-genital anomalies syndrome
Malformation syndrome
444941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941
Caudal regression-sirenomelia spectrum
Clinical group
3169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169
Sirenomelia
Malformation syndrome
3027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027
Caudal regression syndrome
Malformation syndrome
1768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768
Familial caudal dysgenesis
Malformation syndrome
10
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10
48,XXYY syndrome
Malformation syndrome
3176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176
Spina bifida-hypospadias syndrome
Malformation syndrome
921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921
Abruzzo-Erickson syndrome
Malformation syndrome
1299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299
Branchioskeletogenital syndrome
Malformation syndrome
1974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974
Autosomal recessive faciodigitogenital syndrome
Malformation syndrome
2211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211
Hypertelorism-hypospadias-polysyndactyly syndrome
Malformation syndrome
2252
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Malformation syndrome
2261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261
Hypospadias-intellectual disability, Goldblatt type syndrome
Malformation syndrome
2353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353
Schilbach-Rott syndrome
Malformation syndrome
2437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437
Czeizel-Losonci syndrome
Malformation syndrome
2487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487
Lower limb malformation-hypospadias syndrome
Malformation syndrome
2491
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491
Müllerian duct anomalies-limb anomalies syndrome
Malformation syndrome
2669
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669
Nephrosis-deafness-urinary tract-digital malformations syndrome
Malformation syndrome
2957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957
Guttmacher syndrome
Malformation syndrome
3224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Malformation syndrome
3341
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Malformation syndrome
2745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745
Opitz GBBB syndrome
Malformation syndrome
3411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411
Double uterus-hemivagina-renal agenesis syndrome
Malformation syndrome
85173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173
IMAGe syndrome
Malformation syndrome
1655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Malformation syndrome
96263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263
48,XXXY syndrome
Malformation syndrome
96264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264
49,XXXXY syndrome
Malformation syndrome
99329
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329
48,XYYY syndrome
Malformation syndrome
251071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071
8p23.1 microdeletion syndrome
Malformation syndrome
423655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655
ARX-related encephalopathy-brain malformation spectrum
Clinical group
2508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508
Corpus callosum agenesis-abnormal genitalia syndrome
Malformation syndrome
452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452
X-linked lissencephaly with abnormal genitalia
Malformation syndrome
439897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Malformation syndrome
500135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Malformation syndrome
495875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Malformation syndrome
567502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Disease
597749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749
KAT6B-related multiple congenital anomalies syndrome
Clinical group
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
85201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201
Genitopatellar syndrome
Malformation syndrome
597746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Malformation syndrome
90642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90642
Syndromic genetic deafness
Category
529574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574
Duane retraction syndrome with congenital deafness
Malformation syndrome
508476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Malformation syndrome
521438
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438
Congenital vertebral-cardiac-renal anomalies syndrome
Malformation syndrome
521445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Malformation syndrome
397623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Malformation syndrome
456298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298
1p35.2 microdeletion syndrome
Malformation syndrome
171848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Disease
171851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851
MEDNIK syndrome
Disease
199343
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343
EAST syndrome
Disease
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
228012
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Disease
280406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Disease
289553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553
Dysmorphism-conductive hearing loss-heart defect syndrome
Malformation syndrome
293958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Malformation syndrome
293967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Malformation syndrome
300284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Disease
300333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Disease
314404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Disease
314597
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597
Chudley-McCullough syndrome
Malformation syndrome
329336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Disease
330029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029
Hypotrichosis-deafness syndrome
Disease
330054
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Disease
352328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328
MEGDEL syndrome
Disease
363649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Disease
369939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Malformation syndrome
371212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371212
Congenital disorder of glycosylation with deafness as a major feature
Category
3474
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474
CHIME syndrome
Malformation syndrome
244310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310
RFT1-CDG
Disease
263508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508
COG1-CDG
Disease
363417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417
Temtamy preaxial brachydactyly syndrome
Malformation syndrome
397744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Disease
402041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041
Autosomal recessive distal renal tubular acidosis
Clinical subtype
411590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590
Wolfram-like syndrome
Disease
436174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Disease
438134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134
PCNA-related progressive neurodegenerative photosensitivity syndrome
Disease
440354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Malformation syndrome
443098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098
Hyperostosis cranialis interna
Disease
443995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995
Mandibulofacial dysostosis with alopecia
Malformation syndrome
445062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Disease
448251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251
Progressive autosomal recessive ataxia-deafness syndrome
Disease
480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480
Kearns-Sayre syndrome
Disease
550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550
MELAS
Disease
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637
Full NF2-related schwannomatosis
Disease
649
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649
Norrie disease
Malformation syndrome
857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857
Townes-Brocks syndrome
Malformation syndrome
107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107
BOR syndrome
Malformation syndrome
861
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861
Treacher-Collins syndrome
Malformation syndrome
998
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998
Albinism-deafness syndrome
Malformation syndrome
999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999
Ermine phenotype
Malformation syndrome
1000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000
Ocular albinism with late-onset sensorineural deafness
Disease
3085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Malformation syndrome
477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477
KID syndrome
Disease
705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705
Pendred syndrome
Malformation syndrome
63
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63
Alport syndrome
Disease
88917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917
X-linked Alport syndrome
Clinical subtype
88918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918
Autosomal dominant Alport syndrome
Clinical subtype
88919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919
Autosomal recessive Alport syndrome
Clinical subtype
1018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018
X-linked Alport syndrome-diffuse leiomyomatosis
Clinical subtype
653722
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722
Digenic Alport syndrome
Clinical subtype
191
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191
Cockayne syndrome
Disease
1466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466
COFS syndrome
Clinical subtype
90321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321
Cockayne syndrome type 1
Clinical subtype
90322
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322
Cockayne syndrome type 2
Clinical subtype
90324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324
Cockayne syndrome type 3
Clinical subtype
886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886
Usher syndrome
Disease
231183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183
Usher syndrome type 3
Clinical subtype
231169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169
Usher syndrome type 1
Clinical subtype
231178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178
Usher syndrome type 2
Clinical subtype
3440
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440
Waardenburg syndrome
Disease
894
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894
Waardenburg syndrome type 1
Clinical subtype
895
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895
Waardenburg syndrome type 2
Clinical subtype
896
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896
Waardenburg syndrome type 3
Clinical subtype
3463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463
Wolfram syndrome
Disease
828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828
Stickler syndrome
Disease
90653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653
Stickler syndrome type 1
Clinical subtype
90654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654
Stickler syndrome type 2
Clinical subtype
250984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984
Autosomal recessive Stickler syndrome
Clinical subtype
897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897
Waardenburg-Shah syndrome
Disease
500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500
Noonan syndrome with multiple lentigines
Malformation syndrome
2052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052
Fraser syndrome
Malformation syndrome
2597
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Disease
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
1144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Malformation syndrome
1187
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187
Lethal ataxia with deafness and optic atrophy
Disease
1188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188
Ataxia-deafness-intellectual disability syndrome
Malformation syndrome
1200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200
Burn-McKeown syndrome
Malformation syndrome
1248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248
Maxillonasal dysplasia
Malformation syndrome
1368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368
Cataract-ataxia-deafness syndrome
Disease
1399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399
Richards-Rundle syndrome
Malformation syndrome
1435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435
Xq21 microdeletion syndrome
Malformation syndrome
1490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490
Corneal dystrophy-perceptive deafness syndrome
Malformation syndrome
1529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529
Craniofacial-deafness-hand syndrome
Malformation syndrome
1883
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883
Ectodermal dysplasia-sensorineural deafness syndrome
Malformation syndrome
2003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003
Cleft lip/palate-deafness-sacral lipoma syndrome
Malformation syndrome
2027
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027
Gingival fibromatosis-progressive deafness syndrome
Malformation syndrome
2155
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155
Hirschsprung disease-deafness-polydactyly syndrome
Malformation syndrome
2202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202
Palmoplantar keratoderma-deafness syndrome
Disease
1051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051
Ramos-Arroyo syndrome
Malformation syndrome
2237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Malformation syndrome
494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494
Keratoderma hereditarium mutilans
Disease
2405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405
Thickened earlobes-conductive deafness syndrome
Malformation syndrome
2408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408
Lowe-Kohn-Cohen syndrome
Malformation syndrome
2502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Malformation syndrome
3216
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3216
Conductive deafness-malformed external ear syndrome
Malformation syndrome
544503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503
RNF13-related severe early-onset epileptic encephalopathy
Disease
90652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652
Otopalatodigital syndrome type 2
Malformation syndrome
557003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003
Oculoskeletodental syndrome
Disease
589856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Malformation syndrome
589442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Malformation syndrome
500144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Malformation syndrome
631248
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248
Mitchell Syndrome
Disease
457351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Malformation syndrome
2074
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074
Gemignani syndrome
Malformation syndrome
457223
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Disease
2663
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663
Nathalie syndrome
Malformation syndrome
90650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650
Otopalatodigital syndrome type 1
Malformation syndrome
231720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Malformation syndrome
182050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050
MYH9-related disease
Disease
2533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533
Microcephaly-deafness-intellectual disability syndrome
Malformation syndrome
2589
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589
Myoclonus-cerebellar ataxia-deafness syndrome
Malformation syndrome
2608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608
N syndrome
Malformation syndrome
2668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668
Nephropathy-deafness-hyperparathyroidism syndrome
Malformation syndrome
2669
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669
Nephrosis-deafness-urinary tract-digital malformations syndrome
Malformation syndrome
2690
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690
Neutropenia-monocytopenia-deafness syndrome
Disease
2698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Disease
2732
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732
Olivopontocerebellar atrophy-deafness syndrome
Malformation syndrome
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
2751
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751
Orofaciodigital syndrome type 2
Malformation syndrome
2752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752
Orofaciodigital syndrome type 3
Malformation syndrome
2753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753
Orofaciodigital syndrome type 4
Malformation syndrome
2754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754
Orofaciodigital syndrome type 6
Malformation syndrome
2755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755
Orofaciodigital syndrome type 8
Malformation syndrome
2815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815
Spastic paraparesis-deafness syndrome
Malformation syndrome
2820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820
Spastic paraplegia-nephritis-deafness syndrome
Clinical syndrome
2838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838
Renal caliceal diverticuli-deafness syndrome
Malformation syndrome
2855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855
Perrault syndrome
Disease
642945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945
Perrault syndrome type 1
Clinical subtype
642976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976
Perrault syndrome type 2
Clinical subtype
2866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Malformation syndrome
2878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Malformation syndrome
3214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214
Deaf blind hypopigmentation syndrome, Yemenite type
Malformation syndrome
3217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217
Deafness-small bowel diverticulosis-neuropathy syndrome
Disease
3218
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218
Deafness-epiphyseal dysplasia-short stature syndrome
Malformation syndrome
3219
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219
Fountain syndrome
Malformation syndrome
3220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220
Deafness-enamel hypoplasia-nail defects syndrome
Malformation syndrome
69739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739
Athabaskan brainstem dysgenesis syndrome
Disease
3224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
Malformation syndrome
3225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Malformation syndrome
3226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226
Deafness-lymphedema-leukemia syndrome
Malformation syndrome
3230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230
Deafness-oligodontia syndrome
Malformation syndrome
3231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231
Deafness-onychodystrophy syndrome
Clinical group
79499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499
Autosomal dominant deafness-onychodystrophy syndrome
Malformation syndrome
79500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500
DOORS syndrome
Malformation syndrome
3232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232
Deafness-ear malformation-facial palsy syndrome
Malformation syndrome
3233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233
Cochleosaccular degeneration-cataract syndrome
Malformation syndrome
3235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235
Progressive deafness with stapes fixation
Malformation syndrome
3237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237
Multiple synostoses syndrome
Malformation syndrome
3238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238
Cardiospondylocarpofacial syndrome
Malformation syndrome
3239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239
Deafness-vitiligo-achalasia syndrome
Malformation syndrome
3241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241
Deafness-craniofacial syndrome
Malformation syndrome
2653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2653
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Malformation syndrome
1192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Malformation syndrome
1383
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383
Cataract-deafness-hypogonadism syndrome
Malformation syndrome
1123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123
Caudal appendage-deafness syndrome
Malformation syndrome
1171
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Disease
3240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Disease
225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225
Maternally-inherited diabetes and deafness
Disease
42665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665
Tietz syndrome
Malformation syndrome
49827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827
Thiamine-responsive megaloblastic anemia syndrome
Disease
50811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Lipodystrophy-intellectual disability-deafness syndrome
Disease
50815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815
Branchiogenic deafness syndrome
Malformation syndrome
52368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368
Mohr-Tranebjaerg syndrome
Disease
52429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429
Branchiootic syndrome
Malformation syndrome
64747
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747
X-linked Charcot-Marie-Tooth disease
Clinical group
99014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014
X-linked Charcot-Marie-Tooth disease type 5
Disease
101075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075
X-linked Charcot-Marie-Tooth disease type 1
Disease
101076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076
X-linked Charcot-Marie-Tooth disease type 2
Disease
101077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077
X-linked Charcot-Marie-Tooth disease type 3
Disease
101078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078
X-linked Charcot-Marie-Tooth disease type 4
Disease
352675
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675
X-linked Charcot-Marie-Tooth disease type 6
Disease
66633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633
Sensorineural hearing loss-early graying-essential tremor syndrome
Disease
69737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737
Bosley-Salih-Alorainy syndrome
Malformation syndrome
71267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Malformation syndrome
71271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271
Split hand-split foot-deafness syndrome
Malformation syndrome
79107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107
Developmental malformations-deafness-dystonia syndrome
Malformation syndrome
85321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321
Deafness-intellectual disability syndrome, Martin-Probst type
Malformation syndrome
89938
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938
Bartter syndrome type 4
Clinical subtype
90024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024
Deafness with labyrinthine aplasia, microtia, and microdontia
Malformation syndrome
90103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
Malformation syndrome
90646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646
Deafness-hypogonadism syndrome
Malformation syndrome
90647
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647
Jervell and Lange-Nielsen syndrome
Disease
90658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658
Charcot-Marie-Tooth disease type 1E
Disease
94064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064
Deafness-infertility syndrome
Malformation syndrome
97229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229
Riboflavin transporter deficiency
Malformation syndrome
572543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543
RFVT2-related riboflavin transporter deficiency
Clinical subtype
572550
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550
RFVT3-related riboflavin transporter deficiency
Clinical subtype
139512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512
Neuropathy with hearing impairment
Disease
140917
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917
Stapes ankylosis with broad thumbs and toes
Malformation syndrome
140963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963
Bilateral microtia-deafness-cleft palate syndrome
Malformation syndrome
163668
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668
Spondyloepiphyseal dysplasia, MacDermot type
Malformation syndrome
163746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Disease
166100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Malformation syndrome
500188
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Malformation syndrome
447954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954
Combined oxidative phosphorylation defect type 25
Disease
456312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312
Infantile multisystem neurologic-endocrine-pancreatic disease
Disease
456318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318
Hereditary sensory neuropathy-deafness-dementia syndrome
Disease
494439
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Malformation syndrome
494444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Disease
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
542585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585
Auditory neuropathy-optic atrophy syndrome
Disease
543470
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Disease
611201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201
Oculogastrointestinal-neurodevelopmental syndrome
Malformation syndrome
611207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Clinical syndrome
603494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Malformation syndrome
633014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014
SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
Disease
633021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
Clinical subtype
633024
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
Clinical subtype
168569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569
H syndrome
Malformation syndrome
324321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321
Sinoatrial node dysfunction and deafness
Disease
363396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396
High myopia-sensorineural deafness syndrome
Disease
280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280
Wolf-Hirschhorn syndrome
Malformation syndrome
652532
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532
Adult-onset progressive leukoencephalopathy-early-onset deafness
Disease
656130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130
PBX1-related congenital anomalies of kidney and urinary tract syndrome
Disease
90771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90771
Difference of sex development
Category
2982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2982
46,XX difference of sex development
Category
98078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98078
46,XX difference of sex development induced by androgens excess
Category
90776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776
46,XX difference of sex development induced by fetal androgens excess
Category
786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786
Generalized glucocorticoid resistance syndrome
Disease
90791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease
90794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Disease
315306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Clinical subtype
315311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Clinical subtype
90795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Disease
95699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Disease
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
91144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91144
46,XX difference of sex development induced by maternal-derived androgen
Category
325093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325093
46,XX difference of sex development induced by endogenous maternal-derived androgen
Clinical group
325099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325099
46,XX difference of sex development induced by exogenous maternal-derived androgen
Clinical group
325061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325061
46,XX difference of sex development induced by fetoplacental androgens excess
Category
91
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91
Aromatase deficiency
Disease
325055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325055
46,XX disorder of gonadal development
Category
243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243
46,XX gonadal dysgenesis
Malformation syndrome
2138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138
46,XX ovotesticular difference of sex development
Malformation syndrome
393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393
46,XX testicular difference of sex development
Malformation syndrome
444048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048
46,XX ovarian dysgenesis-short stature syndrome
Disease
325109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325109
Syndrome with 46,XX difference of sex development
Category
991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991
PAGOD syndrome
Malformation syndrome
2855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855
Perrault syndrome
Disease
642945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945
Perrault syndrome type 1
Clinical subtype
642976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976
Perrault syndrome type 2
Clinical subtype
2973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973
46,XX difference of sex development-anorectal anomalies syndrome
Malformation syndrome
2975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975
46,XX difference of sex development-skeletal anomalies syndrome
Malformation syndrome
85112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Disease
137631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Disease
139466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466
SERKAL syndrome
Malformation syndrome
247768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768
Müllerian aplasia and hyperandrogenism
Malformation syndrome
98085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085
46,XY difference of sex development
Category
49
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49
Penile agenesis
Morphological anomaly
98087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98087
Syndrome with 46,XY difference of sex development
Category
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
1642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642
Distal deletion 9p
Malformation syndrome
1770
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770
XY type gonadal dysgenesis-associated anomalies syndrome
Malformation syndrome
2983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983
Difference of sex development-intellectual disability syndrome
Disease
1422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422
Chondrodysplasia-difference of sex development syndrome
Malformation syndrome
847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847
Alpha-thalassemia-X-linked intellectual disability syndrome
Malformation syndrome
140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140
Campomelic dysplasia
Malformation syndrome
991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991
PAGOD syndrome
Malformation syndrome
2282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282
Dysmorphism-short stature-deafness-difference of sex development syndrome
Malformation syndrome
3097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097
Meacham syndrome
Malformation syndrome
220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220
Denys-Drash syndrome
Disease
347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347
Frasier syndrome
Disease
452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452
X-linked lissencephaly with abnormal genitalia
Malformation syndrome
95700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Disease
168563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Malformation syndrome
168593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593
Sudden infant death-dysgenesis of the testes syndrome
Malformation syndrome
456328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328
X-linked myotubular myopathy-abnormal genitalia syndrome
Disease
494433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433
MIRAGE syndrome
Disease
2075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075
Genitopalatocardiac syndrome
Malformation syndrome
325118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325118
46,XY disorder of gonadal development
Category
242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242
46,XY complete gonadal dysgenesis
Malformation syndrome
983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983
Testicular regression syndrome
Morphological anomaly
251510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510
46,XY partial gonadal dysgenesis
Malformation syndrome
325124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124
Testicular agenesis
Morphological anomaly
325345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345
46,XY ovotesticular difference of sex development
Disease
325351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325351
46,XY difference of sex development of endocrine origin
Category
754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754
Androgen insensitivity syndrome
Clinical group
90797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797
Partial androgen insensitivity syndrome
Disease
99429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429
Complete androgen insensitivity syndrome
Disease
2856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856
Persistent Müllerian duct syndrome
Malformation syndrome
325357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357
46,XY difference of sex development due to impaired androgen production
Category
755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755
Leydig cell hypoplasia
Disease
96265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265
Leydig cell hypoplasia due to complete LH resistance
Clinical subtype
96266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266
Leydig cell hypoplasia due to partial LH resistance
Clinical subtype
325448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448
Leydig cell hypoplasia due to LHB deficiency
Clinical subtype
90783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783
46,XY difference of sex development due to a testosterone synthesis defect
Category
90786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786
46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
Category
90790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease
325524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
90791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
95699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Disease
168558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
Disease
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
90787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787
46,XY difference of sex development due to testicular steroidogenesis defect
Category
752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Disease
90796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796
46,XY difference of sex development due to isolated 17,20-lyase deficiency
Disease
325511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511
46,XY difference of sex development due to a cholesterol synthesis defect
Category
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
98086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086
46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
Category
753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Disease
443090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090
46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
Category
443087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Disease
325537
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325537
46,XY difference of sex development induced by maternal exposure to endocrine disruptors
Category
325546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325546
Sex chromosome difference of sex development
Category
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
10
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10
48,XXYY syndrome
Malformation syndrome
1772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772
45,X/46,XY mixed gonadal dysgenesis
Malformation syndrome
96263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263
48,XXXY syndrome
Malformation syndrome
96264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264
49,XXXXY syndrome
Malformation syndrome
199310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310
Tetragametic chimerism
Malformation syndrome
647916
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647916
Conjoined twins
Malformation syndrome