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162712
Orphanet classification of rare skin diseases
89826
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89826
Rare skin disease
Category
79353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79353
Epidermal disease
Category
79354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79354
Ichthyosis
Category
454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454
Acquired ichthyosis
Disease
183435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183435
Inherited ichthyosis
Category
281082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281082
Inherited non-syndromic ichthyosis
Category
461
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461
Recessive X-linked ichthyosis
Disease
317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317
Erythrokeratodermia variabilis
Disease
817
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817
Peeling skin syndrome
Clinical group
263534
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534
Acral peeling skin syndrome
Disease
263543
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543
Generalized peeling skin syndrome
Disease
263548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548
Peeling skin syndrome type A
Clinical subtype
263553
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553
Peeling skin syndrome type B
Clinical subtype
79395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395
Keratoderma hereditarium mutilans with ichthyosis
Disease
281097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097
Autosomal recessive congenital ichthyosis
Clinical group
313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313
Lamellar ichthyosis
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
281122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122
Self-improving collodion baby
Disease
281127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127
Acral self-healing collodion baby
Disease
289586
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586
Exfoliative ichthyosis
Disease
281103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281103
Keratinopathic ichthyosis
Clinical group
281190
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190
Congenital reticular ichthyosiform erythroderma
Disease
312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312
Autosomal dominant epidermolytic ichthyosis
Disease
455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455
Superficial epidermolytic ichthyosis
Disease
79503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503
Ichthyosis hystrix of Curth-Macklin
Disease
281139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139
Annular epidermolytic ichthyosis
Disease
512103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512103
Autosomal recessive epidermolytic ichthyosis
Disease
497737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737
Epidermolytic nevus
Disease
281201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Disease
444138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Disease
281085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281085
Inherited ichthyosis syndromic form
Category
281210
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281210
X-linked ichthyosis syndrome
Clinical group
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
2273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273
Ichthyosis follicularis-alopecia-photophobia syndrome
Disease
35173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173
X-linked dominant chondrodysplasia punctata
Disease
281090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090
Syndromic recessive X-linked ichthyosis
Disease
281217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281217
Autosomal ichthyosis syndrome
Category
281222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281222
Autosomal ichthyosis syndrome with prominent hair abnormalities
Category
634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634
Netherton syndrome
Disease
59303
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303
Neonatal ichthyosis-sclerosing cholangitis syndrome
Disease
91132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132
Ichthyosis-hypotrichosis syndrome
Disease
33364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364
Trichothiodystrophy
Disease
281238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281238
Autosomal ichthyosis syndrome with prominent neurologic signs
Category
773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773
Refsum disease
Disease
816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816
Sjögren-Larsson syndrome
Disease
2269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Disease
2271
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Disease
2671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671
Neu-Laxova syndrome
Malformation syndrome
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
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
171851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851
MEDNIK syndrome
Disease
352333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Disease
281241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281241
Autosomal ichthyosis syndrome with fatal disease course
Category
585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585
Multiple sulfatase deficiency
Disease
2697
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697
Arthrogryposis-renal dysfunction-cholestasis syndrome
Malformation syndrome
66631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631
CEDNIK syndrome
Disease
85212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212
Fetal Gaucher disease
Clinical subtype
2671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671
Neu-Laxova syndrome
Malformation syndrome
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
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
281244
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281244
Autosomal ichthyosis syndrome with other associated signs
Category
477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477
KID syndrome
Disease
3151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151
Multiple sclerosis-ichthyosis-factor VIII deficiency 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
2274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Disease
2278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278
Ichthyosis-intellectual disability-dwarfism-renal impairment 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
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
88621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621
Ichthyosis-prematurity syndrome
Disease
91131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131
DK1-CDG
Disease
98907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907
Neutral lipid storage disease with ichthyosis
Disease
363992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Disease
404454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454
Alacrimia-choreoathetosis-liver dysfunction syndrome
Disease
79355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79355
Erythrokeratoderma
Category
2897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897
Pityriasis rubra pilaris
Disease
1955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955
Spinocerebellar ataxia type 34
Disease
315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315
Erythrokeratoderma ''en cocardes''
Disease
171851
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851
MEDNIK syndrome
Disease
308166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308166
Erythrokeratoderma variabilis progressiva
Clinical group
317
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317
Erythrokeratodermia variabilis
Disease
316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316
Progressive symmetric erythrokeratodermia
Disease
330029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029
Hypotrichosis-deafness syndrome
Disease
476096
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096
Erythrokeratodermia-cardiomyopathy syndrome
Disease
79356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79356
Acrokeratoderma
Category
99710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99710
Punctate acrokeratoderma freckle-like pigmentation
Disease
3417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417
Van den Bosch syndrome
Malformation syndrome
38
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38
Acrokeratoelastoidosis of Costa
Disease
79151
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151
Acrokeratosis verruciformis of Hopf
Disease
79357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79357
Hereditary palmoplantar keratoderma
Category
307141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307141
Diffuse palmoplantar keratoderma
Category
307148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307148
Isolated diffuse palmoplantar keratoderma
Clinical group
98349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98349
Autosomal dominant isolated diffuse palmoplantar keratoderma
Category
495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495
Transgrediens et progrediens palmoplantar keratoderma
Disease
2199
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199
Epidermolytic palmoplantar keratoderma
Disease
2337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337
Diffuse palmoplantar keratoderma, Bothnian type
Disease
369999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999
Diffuse palmoplantar keratoderma with painful fissures
Disease
530838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838
KRT1-related diffuse nonepidermolytic keratoderma
Disease
98356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98356
Autosomal recessive isolated diffuse palmoplantar keratoderma
Category
86923
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86923
Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Disease
87503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503
Mal de Meleda
Disease
140966
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966
Palmoplantar keratoderma, Nagashima type
Disease
307711
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307711
Disease with diffuse palmoplantar keratoderma as a major feature
Category
98352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98352
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Category
477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477
KID syndrome
Disease
189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189
Hidrotic ectodermal dysplasia
Disease
1010
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Disease
2202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202
Palmoplantar keratoderma-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
316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316
Progressive symmetric erythrokeratodermia
Disease
384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384
Huriez syndrome
Disease
69087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087
Naegeli-Franceschetti-Jadassohn syndrome
Disease
86918
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Disease
86919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919
Keratosis palmaris et plantaris-clinodactyly syndrome
Disease
86920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920
Dermatopathia pigmentosa reticularis
Disease
307766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766
Curly hair-acral keratoderma-caries syndrome
Disease
307773
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307773
Autosomal dominant diffuse mutilating palmoplantar keratoderma
Clinical group
494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494
Keratoderma hereditarium mutilans
Disease
659
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Disease
79395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395
Keratoderma hereditarium mutilans with ichthyosis
Disease
281201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Disease
352662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Disease
538574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Disease
307804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307804
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Category
66631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631
CEDNIK syndrome
Disease
477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477
KID syndrome
Disease
1366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Disease
2342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342
Haim-Munk syndrome
Disease
2721
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721
Odonto-onycho-dermal dysplasia
Disease
678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678
Papillon-Lefèvre syndrome
Disease
34217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217
Naxos disease
Disease
50944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944
Schöpf-Schulz-Passarge syndrome
Disease
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
293165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Disease
363523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Disease
447961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Disease
307837
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307837
Focal palmoplantar keratoderma
Category
307846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307846
Isolated focal palmoplantar keratoderma
Clinical group
50942
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942
Striate palmoplantar keratoderma
Disease
79141
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141
Hereditary painful callosities
Disease
370002
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002
Focal palmoplantar keratoderma with joint keratoses
Disease
402003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Disease
448264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264
Isolated focal non-epidermolytic palmoplantar keratoderma
Disease
307871
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307871
Disease with focal palmoplantar keratoderma as a major feature
Category
98353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98353
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Category
2198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198
Palmoplantar keratoderma-esophageal carcinoma syndrome
Disease
2200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200
Focal palmoplantar and gingival keratoderma
Disease
2309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309
Pachyonychia congenita
Disease
307936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Disease
98357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98357
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Category
28378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378
Tyrosinemia type 2
Disease
65282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282
Carvajal syndrome
Disease
420686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686
Woolly hair-palmoplantar keratoderma syndrome
Disease
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
307967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307967
Punctate palmoplantar keratoderma
Category
2338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2338
Isolated punctate palmoplantar keratoderma
Clinical group
737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737
Porokeratosis plantaris palmaris et disseminata
Disease
79501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501
Punctate palmoplantar keratoderma type 1
Disease
79502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502
Punctate palmoplantar keratoderma type 2
Disease
307995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307995
Marginal papular palmoplantar keratoderma
Clinical group
38
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38
Acrokeratoelastoidosis of Costa
Disease
308013
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308013
Focal acral hyperkeratosis
Disease
444138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Disease
308023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308023
Disease with punctate palmoplantar keratoderma as a major feature
Category
308031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308031
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Category
1336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336
Hyperkeratosis-hyperpigmentation syndrome
Disease
2201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201
Palmoplantar keratoderma-spastic paralysis syndrome
Disease
324561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Disease
308041
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308041
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Category
2386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386
Leukoencephalopathy-palmoplantar keratoderma syndrome
Disease
79358
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79358
Porokeratosis
Category
735
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735
Porokeratosis of Mibelli
Disease
737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737
Porokeratosis plantaris palmaris et disseminata
Disease
79152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152
Disseminated superficial actinic porokeratosis
Disease
79359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79359
Other epidermal disorder
Category
482606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
Malformation syndrome
158687
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687
Lethal acantholytic erosive disorder
Disease
488168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Malformation syndrome
2841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841
Familial benign chronic pemphigus
Disease
218
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218
Darier disease
Disease
1658
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658
Absence of fingerprints-congenital milia syndrome
Disease
1867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867
Hereditary bullous dystrophy, macular type
Disease
2339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Malformation syndrome
2388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388
Choreoacanthocytosis
Disease
409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409
Hyperkeratosis lenticularis perstans
Disease
498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498
Keratosis pilaris atrophicans
Clinical group
2340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340
Keratosis follicularis spinulosa decalvans
Disease
3406
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406
Ulerythema ophryogenesis
Disease
79100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100
Atrophoderma vermiculata
Disease
50943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943
Keratolytic winter erythema
Disease
69744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69744
Circumscribed palmoplantar hypokeratosis
Disease
69745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69745
Warty dyskeratoma
Disease
85165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Disease
90301
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Disease
163927
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927
Pustulosis palmaris et plantaris
Disease
163931
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931
Acrodermatitis continua of Hallopeau
Disease
168606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606
Seborrhea-like dermatitis with psoriasiform elements
Disease
231573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231573
Congenital erosive and vesicular dermatosis
Disease
247353
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353
Generalized pustular psoriasis
Disease
294023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023
Neonatal inflammatory skin and bowel disease
Disease
369992
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Disease
412035
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035
13q12.3 microdeletion syndrome
Malformation syndrome
439196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439196
Zinc-responsive necrolytic acral erythema
Particular clinical situation in a disease or syndrome
498359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498359
Aquagenic palmoplantar keratoderma
Disease
79361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361
Inherited epidermolysis bullosa
Category
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
304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304
Epidermolysis bullosa simplex
Clinical group
595346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595346
Epidermolysis bullosa simplex without extracutaneous involvement
Category
412181
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181
Epidermolysis bullosa simplex due to BP230 deficiency
Disease
412189
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189
Epidermolysis bullosa simplex due to exophilin 5 deficiency
Disease
79396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Disease
79397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397
Epidermolysis bullosa simplex with mottled pigmentation
Disease
79399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
Disease
79400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400
Localized epidermolysis bullosa simplex
Disease
79401
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
Disease
89838
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838
Autosomal recessive generalized epidermolysis bullosa simplex
Disease
158681
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681
Epidermolysis bullosa simplex with circinate migratory erythema
Disease
595351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595351
Epidermolysis bullosa simplex with extracutaneous involvement
Category
508529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Disease
2325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325
Epidermolysis bullosa simplex with anodontia/hypodontia
Malformation syndrome
257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257
Epidermolysis bullosa simplex with muscular dystrophy
Disease
158684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684
Epidermolysis bullosa simplex with pyloric atresia
Disease
300333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Disease
2908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908
Kindler epidermolysis bullosa
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
222628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222628
Hereditary poikiloderma
Category
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902
Werner syndrome
Disease
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
221039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039
Hereditary sclerosing poikiloderma, Weary type
Disease
221043
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Disease
221046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046
Poikiloderma with neutropenia
Disease
2907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907
Hereditary acrokeratotic poikiloderma
Disease
254367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254367
Rare lichen planus
Category
254370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254370
Rare cutaneous lichen planus
Category
505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505
Graham Little-Piccardi-Lassueur syndrome
Disease
525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525
Lichen planopilaris
Disease
33408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33408
Bullous lichen planus
Disease
254379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254379
Linear lichen planus
Disease
254395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254395
Actinic lichen planus
Disease
254411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254411
Annular atrophic lichen planus
Disease
254424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254424
Annular lichen planus
Disease
254449
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254449
Atrophic lichen planus
Disease
254463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254463
Lichen planus pigmentosus
Disease
254478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254478
Lichen planus pemphigoides
Disease
254492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492
Frontal fibrosing alopecia
Disease
254373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254373
Rare mucosal lichen planus
Category
83453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83453
Vulvovaginal gingival syndrome
Disease
79362
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79362
Epidermal appendage anomaly
Category
79363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79363
Hair anomaly
Category
79364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79364
Alopecia
Category
1006
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006
Alopecia antibody deficiency
Disease
1008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Disease
701
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701
Alopecia universalis
Disease
1014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Disease
2273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273
Ichthyosis follicularis-alopecia-photophobia syndrome
Disease
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
2850
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850
Alopecia-intellectual disability syndrome
Disease
129
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129
Pseudopelade of Brocq
Disease
168
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168
Loose anagen syndrome
Disease
346
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346
Quinquaud folliculitis decalvans
Disease
505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505
Graham Little-Piccardi-Lassueur syndrome
Disease
444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444
Marie Unna hereditary hypotrichosis
Disease
525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525
Lichen planopilaris
Disease
700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700
Alopecia totalis
Disease
55654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654
Hypotrichosis simplex
Disease
86819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819
Atrichia with papular lesions
Disease
90368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368
Hypotrichosis simplex of the scalp
Disease
91132
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132
Ichthyosis-hypotrichosis syndrome
Disease
157954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954
ANE syndrome
Disease
217407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407
Hereditary hypotrichosis with recurrent skin vesicles
Disease
228390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Malformation syndrome
254492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254492
Frontal fibrosing alopecia
Disease
330029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029
Hypotrichosis-deafness syndrome
Disease
443995
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995
Mandibulofacial dysostosis with alopecia
Malformation syndrome
3130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130
Satoyoshi syndrome
Disease
447961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Disease
79365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79365
Rare disorder with hypertrichosis
Category
1021
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021
Amaurosis-hypertrichosis syndrome
Disease
508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508
Leprechaunism
Malformation syndrome
1231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231
Barber-Say syndrome
Malformation syndrome
1375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375
Cataract-hypertrichosis-intellectual disability syndrome
Malformation syndrome
2026
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026
Gingival fibromatosis-hypertrichosis syndrome
Malformation syndrome
2218
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218
Cervical hypertrichosis-peripheral neuropathy syndrome
Disease
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
769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769
Rabson-Mendenhall syndrome
Malformation syndrome
3387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387
Isolated anterior cervical hypertrichosis
Disease
2221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221
Acquired hypertrichosis lanuginosa
Disease
476119
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Malformation 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
79366
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79366
Isolated hair shaft abnormality
Category
1410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410
Uncombable hair syndrome
Disease
2889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889
Pili torti
Disease
169
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169
Ringed hair disease
Disease
170
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170
Woolly hair
Disease
573
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573
Monilethrix
Disease
720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720
Pili bifurcati
Disease
79414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414
Woolly hair nevus
Disease
79492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79492
Pili gemini
Disease
79367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79367
Syndromic hair shaft abnormality
Category
123
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123
Björnstad syndrome
Disease
565
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565
Menkes disease
Disease
2891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891
Pili torti-developmental delay-neurological abnormalities 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
3361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361
Trichodysplasia-xeroderma syndrome
Malformation syndrome
202
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202
Crandall syndrome
Disease
33364
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364
Trichothiodystrophy
Disease
434809
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434809
Syndrome with woolly hair
Category
34217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217
Naxos disease
Disease
65282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282
Carvajal syndrome
Disease
293165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Disease
420686
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686
Woolly hair-palmoplantar keratoderma syndrome
Disease
411788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788
Familial isolated trichomegaly
Disease
79368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79368
Nail anomaly
Category
79369
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79369
Isolated nail anomaly
Category
2387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387
Leukonychia totalis
Disease
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
79144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144
Isolated congenital onychodysplasia
Disease
79153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153
Idiopathic trachyonychia
Disease
217059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059
Isolated congenital digital clubbing
Morphological anomaly
280654
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654
Autosomal recessive nail dysplasia
Disease
79370
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79370
Syndromic nail anomaly
Category
488232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232
Split-foot malformation-mesoaxial polydactyly syndrome
Malformation syndrome
2153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Malformation syndrome
2614
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614
Nail-patella syndrome
Malformation syndrome
1487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487
Cooks syndrome
Malformation syndrome
1811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811
Odontomicronychial dysplasia
Malformation syndrome
2045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045
FLOTCH syndrome
Disease
2309
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309
Pachyonychia congenita
Disease
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
662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662
Yellow nail syndrome
Disease
69125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125
Anonychia with flexural pigmentation
Malformation syndrome
210133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Disease
330029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029
Hypotrichosis-deafness syndrome
Disease
420561
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561
Temple-Baraitser syndrome
Disease
2835
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Malformation syndrome
2793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793
Otoonychoperoneal 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
79372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79372
Sebaceous gland anomaly
Category
2750
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750
Orofaciodigital syndrome type 1
Malformation syndrome
3184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184
Steatocystoma multiplex-natal teeth syndrome
Malformation syndrome
841
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841
Sebocystomatosis
Disease
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
447961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Disease
2266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266
Hypotrichosis-intellectual disability, Lopes type
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
542657
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657
Isolated hyperchlorhidrosis
Disease
79374
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79374
Pigmentation anomaly of the skin
Category
2435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Disease
79375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79375
Hyperpigmentation of the skin
Category
508512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Disease
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
2869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869
Peutz-Jeghers syndrome
Disease
562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562
McCune-Albright syndrome
Disease
1775
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775
Dyskeratosis congenita
Disease
84
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84
Fanconi anemia
Malformation syndrome
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
1336
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336
Hyperkeratosis-hyperpigmentation syndrome
Disease
2069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069
Gastrocutaneous syndrome
Disease
2574
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574
Moynahan syndrome
Malformation syndrome
1359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359
Carney complex
Disease
2678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678
Familial isolated café-au-lait macules
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
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
39
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39
Acromelanosis
Disease
41
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41
Dyschromatosis symmetrica hereditaria
Disease
241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241
Dyschromatosis universalis hereditaria
Disease
33445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445
Neuroectodermal melanolysosomal disease
Malformation syndrome
69087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087
Naegeli-Franceschetti-Jadassohn syndrome
Disease
79145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145
Dowling-Degos disease
Disease
79146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146
Familial progressive hyperpigmentation
Disease
79150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150
Linear and whorled nevoid hypermelanosis
Disease
86920
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920
Dermatopathia pigmentosa reticularis
Disease
88630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630
Terminal osseous dysplasia-pigmentary defects syndrome
Malformation syndrome
93921
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921
Full schwannomatosis
Disease
137605
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605
Legius syndrome
Malformation syndrome
168569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569
H syndrome
Malformation syndrome
178307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307
Reticulate acropigmentation of Kitamura
Disease
210133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Disease
231040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040
Familial generalized lentiginosis
Disease
319340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340
Carney complex-trismus-pseudocamptodactyly syndrome
Disease
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
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
1964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Malformation syndrome
634511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634511
Mosaic Legius syndrome
Disease
79376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79376
Hypopigmentation of the skin
Category
998
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998
Albinism-deafness syndrome
Malformation syndrome
55
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55
Oculocutaneous albinism
Clinical group
79432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432
Oculocutaneous albinism type 2
Disease
79433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433
Oculocutaneous albinism type 3
Disease
79435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435
Oculocutaneous albinism type 4
Disease
352731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731
Oculocutaneous albinism type 1
Disease
79431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431
Oculocutaneous albinism type 1A
Clinical subtype
79434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434
Oculocutaneous albinism type 1B
Clinical subtype
352734
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734
Minimal pigment oculocutaneous albinism type 1
Clinical subtype
352737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737
Temperature-sensitive oculocutaneous albinism type 1
Clinical subtype
352745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745
Oculocutaneous albinism type 7
Disease
370091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091
Oculocutaneous albinism type 5
Disease
370097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097
Oculocutaneous albinism type 6
Disease
597733
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733
Oculocutaneous albinism type 8
Disease
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
897
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897
Waardenburg-Shah syndrome
Disease
1493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493
Vici syndrome
Malformation syndrome
2884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884
Piebaldism
Disease
2885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885
Piebald trait-neurologic defects 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
42665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665
Tietz 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
284811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811
Syndromic oculocutaneous albinism
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
167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167
Chédiak-Higashi syndrome
Disease
381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381
Griscelli syndrome
Disease
79476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476
Griscelli syndrome type 1
Clinical subtype
79477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477
Griscelli syndrome type 2
Clinical subtype
79478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478
Griscelli syndrome type 3
Clinical subtype
2719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719
Oculocerebral hypopigmentation syndrome, Cross type
Malformation syndrome
79430
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430
Hermansky-Pudlak syndrome
Disease
183678
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678
Hermansky-Pudlak syndrome due to AP-3 deficiency
Clinical subtype
231500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Clinical subtype
231512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Clinical subtype
231531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Clinical subtype
2720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720
Oculocerebral hypopigmentation syndrome, Preus type
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
280628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628
Familial progressive hyper- and hypopigmentation
Disease
447961
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Disease
79377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79377
Dermis disorder
Category
79378
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79378
Dermis elastic tissue disorder
Category
228215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228215
Genetic dermis elastic tissue disorder
Category
230857
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857
Ehlers-Danlos/osteogenesis imperfecta syndrome
Disease
3071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071
Costello 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
758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758
Pseudoxanthoma elasticum
Disease
53296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296
Familial cutaneous collagenoma
Disease
79147
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147
Familial reactive perforating collagenosis
Disease
91135
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
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
228277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277
Familial anetoderma
Disease
436274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Disease
1659
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659
Dermatoleukodystrophy
Disease
2295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295
Familial articular hypermobility syndrome
Disease
228218
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228218
Acquired dermis elastic tissue disorder
Category
228221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228221
Acquired dermis elastic tissue disorder with decreased elastic tissue
Category
228264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228264
Papular elastorrhexis
Disease
228272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228272
Primary anetoderma
Disease
228285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228285
Acquired cutis laxa
Disease
228290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228290
White fibrous papulosis of the neck
Disease
228293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228293
Pseudoxanthoma elasticum-like papillary dermal elastolysis
Disease
228299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228299
Mid-dermal elastolysis
Disease
221142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221142
Confetti-like macular atrophy
Disease
228224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228224
Acquired dermis elastic tissue disorder with increased elastic tissue
Category
38
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38
Acrokeratoelastoidosis of Costa
Disease
79148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79148
Elastosis perforans serpiginosa
Disease
228227
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228227
Late-onset focal dermal elastosis
Disease
228236
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228236
Linear focal elastosis
Disease
228240
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228240
Elastoderma
Disease
228243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228243
Elastofibroma dorsi
Disease
228247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228247
Acquired pseudoxanthoma elasticum
Disease
228254
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228254
Elastoma
Disease
79379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79379
Skin vascular disease
Category
481662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662
Familial Chilblain lupus
Disease
324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324
Fabry disease
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
1059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059
Blue rubber bleb nevus
Malformation syndrome
1556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556
Cutis marmorata telangiectatica congenita
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
3205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205
Sturge-Weber syndrome
Malformation syndrome
624
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624
Familial multiple nevi flammei
Morphological anomaly
53719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719
Wyburn-Mason syndrome
Malformation syndrome
53721
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721
Spinal arteriovenous metameric 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
90280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280
Chilblain lupus
Disease
95429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429
Angioma serpiginosum
Disease
163634
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634
Maffucci syndrome
Disease
217008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008
Bockenheimer syndrome
Malformation syndrome
251347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347
Ataxia-telangiectasia-like disorder
Disease
280065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280065
Calciphylaxis cutis
Clinical subtype
280774
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280774
Generalized essential telangiectasia
Disease
280779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280779
Cutaneous collagenous vasculopathy
Disease
313846
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Disease
542643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542643
Livedoid vasculopathy
Clinical syndrome
656071
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656071
Atrophic papulosis
Disease
656085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656085
Benign atrophic papulosis
Clinical subtype
679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679
Malignant atrophic papulosis
Clinical subtype
79380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79380
Mixed dermis disorder
Category
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
974
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974
Adams-Oliver syndrome
Malformation syndrome
1003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003
Scalp defects-postaxial polydactyly 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
1117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117
Aplasia cutis-myopia syndrome
Disease
2036
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036
Scalp-ear-nipple syndrome
Malformation syndrome
2092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092
Focal dermal hypoplasia
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
1114
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114
Aplasia cutis congenita
Malformation syndrome
79381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79381
Other dermis disorder
Category
1764
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764
Familial dysautonomia
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
1555
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Malformation syndrome
2028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028
Juvenile hyaline fibromatosis
Clinical subtype
2762
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762
Progressive osseous heteroplasia
Malformation syndrome
2796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796
Pachydermoperiostosis
Malformation syndrome
2987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987
Antecubital pterygium syndrome
Malformation syndrome
671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671
Primary cutis verticis gyrata
Clinical group
357220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357220
Primary essential cutis verticis gyrata
Disease
357225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225
Primary non-essential cutis verticis gyrata
Disease
530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530
Lipoid proteinosis
Malformation syndrome
79149
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149
Dermochondrocorneal dystrophy
Disease
90340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
Blau syndrome
Disease
137807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137807
Primary cutaneous amyloidosis
Clinical group
49804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49804
Lichen amyloidosis
Disease
137810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137810
Nodular cutaneous amyloidosis
Disease
137814
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137814
Macular amyloidosis
Disease
319635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319635
Amyloidosis cutis dyschromia
Disease
353220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220
Familial primary localized cutaneous amyloidosis
Disease
402007
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402007
Lichen myxedematosus
Clinical group
86795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86795
Localized lichen myxedematosus
Clinical group
90393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90393
Nodular lichen myxedematosus
Disease
90394
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90394
Discrete papular lichen myxedematosus
Disease
90395
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90395
Papular mucinosis of infancy
Disease
90396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90396
Acral persistent papular mucinosis
Disease
90397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90397
Self-healing papular mucinosis
Disease
86797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86797
Atypical lichen myxedematosus
Disease
90398
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90398
Localized lichen myxedematosus with mixed features of different subtypes
Clinical subtype
90399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90399
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
Clinical subtype
90400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90400
Scleromyxedema without monoclonal gammopathy
Clinical subtype
167635
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635
Scleromyxedema
Disease
542592
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542592
Necrobiosis lipoidica
Disease
468666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666
Isolated generalized anhidrosis with normal sweat glands
Disease
140933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933
Linear atrophoderma of Moulin
Disease
658810
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658810
Atrophoderma of Pasini and Pierini
Disease
90076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90076
Partial deep dermal and full thickness burns
Particular clinical situation in a disease or syndrome
79382
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79382
Subcutaneous tissue disease
Category
333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333
Farber disease
Disease
337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337
Fibrodysplasia ossificans progressiva
Disease
909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909
Cerebrotendinous xanthomatosis
Disease
2398
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398
Multiple symmetric lipomatosis
Disease
2396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396
Encephalocraniocutaneous lipomatosis
Disease
529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529
Roch-Leri mesosomatous lipomatosis
Disease
345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=345
Dissecting cellulitis of the scalp
Disease
33577
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33577
Nodular non-suppurative panniculitis
Disease
36397
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36397
Adiposis dolorosa
Disease
90970
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90970
Primary lipodystrophy
Category
98305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98305
Genetic lipodystrophy
Category
528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528
Congenital generalized lipodystrophy
Disease
1979
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979
Lipodystrophy due to peptidic growth factors deficiency
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
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
50811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811
Lipodystrophy-intellectual disability-deafness syndrome
Disease
98306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306
Familial partial lipodystrophy
Clinical group
2348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348
Familial partial lipodystrophy, Dunnigan type
Disease
79083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083
PPARG-related familial partial lipodystrophy
Disease
79084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084
Familial partial lipodystrophy, Köbberling type
Disease
79085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085
AKT2-related familial partial lipodystrophy
Disease
280356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356
PLIN1-related familial partial lipodystrophy
Disease
280365
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365
Autosomal semi-dominant severe lipodystrophic laminopathy
Disease
435651
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651
CIDEC-related familial partial lipodystrophy
Disease
435660
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660
LIPE-related familial partial lipodystrophy
Disease
363400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400
Severe neurodegenerative syndrome with lipodystrophy
Disease
435628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628
Keppen-Lubinsky 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
324977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977
Proteasome-associated autoinflammatory syndrome
Disease
280576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576
Nestor-Guillermo progeria syndrome
Malformation syndrome
98307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98307
Acquired lipodystrophy
Category
79086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086
Acquired generalized lipodystrophy
Disease
79087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087
Acquired partial lipodystrophy
Disease
79088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79088
Localized lipodystrophy
Clinical group
90156
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156
Centrifugal lipodystrophy
Disease
90157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157
Drug-induced localized lipodystrophy
Disease
90158
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158
Idiopathic localized lipodystrophy
Disease
90159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159
Panniculitis-induced localized lipodystrophy
Disease
90160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160
Pressure-induced localized lipoatrophy
Disease
94087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94087
Cytophagic histiocytic panniculitis
Disease
140944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944
CLOVES syndrome
Malformation syndrome
199276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276
Familial multiple lipomatosis
Disease
199279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199279
Familial angiolipomatosis
Disease
468666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666
Isolated generalized anhidrosis with normal sweat glands
Disease
477742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477742
Nodular fasciitis
Disease
404454
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454
Alacrimia-choreoathetosis-liver dysfunction syndrome
Disease
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
2526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526
Microcephaly-lymphedema-chorioretinopathy syndrome
Malformation syndrome
569821
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821
Congenital primary lymphedema of Gordon
Disease
79452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452
Milroy disease
Disease
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
3226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226
Deafness-lymphedema-leukemia syndrome
Malformation syndrome
568051
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051
GJC2-related late-onset primary lymphedema
Disease
569816
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816
CELSR1-related late-onset primary lymphedema
Disease
1414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414
Cholestasis-lymphedema syndrome
Disease
33001
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001
Lymphedema-distichiasis syndrome
Malformation syndrome
90186
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186
Meige disease
Disease
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
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
568065
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065
EPHB4-related lymphatic-related hydrops fetalis
Disease
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
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
69088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Disease
2836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836
PEHO syndrome
Disease
1655
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655
Müllerian derivatives-lymphangiectasia-polydactyly 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
48652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652
Monosomy 22q13.3
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
99807
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807
PEHO-like syndrome
Disease
805
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805
Tuberous sclerosis complex
Disease
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
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
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
1340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340
Cardiofaciocutaneous syndrome
Malformation syndrome
2710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710
Oculodentodigital dysplasia
Malformation syndrome
742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742
Prolidase deficiency
Disease
79384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79384
Rare urticaria
Category
2483
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2483
Melkersson-Rosenthal syndrome
Malformation syndrome
64745
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64745
Pruritic urticarial papules and plaques of pregnancy
Disease
493342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342
Vibratory urticaria
Disease
79385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79385
Unclassified genetic skin disorder
Category
1954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954
Congenital lethal erythroderma
Disease
2505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505
Multiple benign circumferential skin creases on limbs
Disease
2812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812
Parana hard skin syndrome
Disease
2833
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833
Stiff skin syndrome
Disease
83628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628
LUMBAR syndrome
Malformation syndrome
231031
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031
Erythema palmare hereditarium
Disease
79386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79386
Rare skin tumor or hamartoma
Category
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
377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377
Gorlin 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
113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113
Bazex-Dupré-Christol syndrome
Disease
3110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110
Rombo syndrome
Disease
542
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542
Primary cutaneous lymphoma
Category
171901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171901
Primary cutaneous T-cell lymphoma
Category
178548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178548
Indolent primary cutaneous T-cell lymphoma
Clinical group
541
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Clinical group
98842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98842
Lymphomatoid papulosis
Disease
300865
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300865
Primary cutaneous anaplastic large cell lymphoma
Disease
86884
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86884
Subcutaneous panniculitis-like T-cell lymphoma
Disease
178522
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178522
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Disease
178566
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178566
Mycosis fungoides and variants
Clinical group
2584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2584
Classic mycosis fungoides
Disease
33111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33111
Granulomatous slack skin
Disease
178512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178512
Folliculotropic mycosis fungoides
Disease
178517
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178517
Localized pagetoid reticulosis
Disease
178551
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178551
Aggressive primary cutaneous T-cell lymphoma
Clinical group
3162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3162
Sézary syndrome
Disease
86875
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86875
Adult T-cell leukemia/lymphoma
Disease
86879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86879
Extranodal nasal NK/T cell lymphoma
Disease
86885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86885
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Disease
178528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178528
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Disease
178533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178533
Primary cutaneous gamma/delta-positive T-cell lymphoma
Disease
178563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178563
Primary cutaneous B-cell lymphoma
Category
178554
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178554
Aggressive primary cutaneous B-cell lymphoma
Clinical group
178544
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178544
Primary cutaneous diffuse large B-cell lymphoma, leg type
Disease
178557
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178557
Indolent primary cutaneous B-cell lymphoma
Clinical group
178536
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178536
Primary cutaneous marginal zone B-cell lymphoma
Disease
178540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178540
Primary cutaneous follicle center lymphoma
Disease
2591
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591
Infantile myofibromatosis
Disease
618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618
Familial melanoma
Disease
492
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=492
Proliferating trichilemmal cyst
Disease
840
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840
Syringocystadenoma papilliferum
Disease
864
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=864
Trichofolliculoma
Disease
122
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122
Birt-Hogg-Dubé syndrome
Malformation syndrome
493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493
Familial keratoacanthoma
Disease
523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523
Hereditary leiomyomatosis and renal cell cancer
Disease
31112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112
Dermatofibrosarcoma protuberans
Disease
2800
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2800
Extramammary Paget disease
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
65748
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748
Multiple self-healing squamous epithelioma
Disease
79140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140
Cutaneous neuroendocrine carcinoma
Disease
79493
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493
Brooke-Spiegler syndrome
Disease
211
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211
Familial cylindromatosis
Clinical subtype
867
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867
Familial multiple trichoepithelioma
Clinical subtype
79665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665
Gardner syndrome
Clinical subtype
91414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91414
Pilomatrixoma
Disease
168632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632
Generalized basaloid follicular hamartoma syndrome
Disease
168999
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168999
Malignant melanoma of the mucosa
Disease
199257
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199257
Superficial fibromatosis
Clinical group
199251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199251
Ledderhose disease
Disease
199260
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199260
Calcifying aponeurotic fibroma
Disease
199267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199267
Infantile digital fibromatosis
Disease
263435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263435
Congenital smooth muscle hamartoma
Disease
276280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280
Hemihyperplasia-multiple lipomatosis syndrome
Malformation syndrome
294057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294057
Rare nevus
Category
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626
Large congenital melanocytic nevus
Disease
497757
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757
MME-related autosomal dominant Charcot Marie Tooth disease type 2
Disease
2612
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612
Linear nevus sebaceus syndrome
Disease
744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744
Proteus syndrome
Malformation syndrome
139
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139
CHILD syndrome
Disease
2481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2481
Neurocutaneous melanocytosis
Disease
2874
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874
Phakomatosis pigmentokeratotica
Malformation syndrome
2969
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969
Proteus-like syndrome
Disease
2611
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2611
Linear verrucous nevus syndrome
Disease
79466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79466
Inflammatory linear verrucous epidermal nevus
Clinical subtype
79467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79467
Verrucous nevus
Clinical subtype
79468
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79468
Acanthokeratolytic verrucous nevus
Clinical subtype
35125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125
Epidermal nevus syndrome
Disease
64754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754
Nevus comedonicus syndrome
Disease
64755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755
Becker nevus 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
139414
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139414
Congenital panfollicular nevus
Disease
140944
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944
CLOVES syndrome
Malformation syndrome
166286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286
Porokeratotic eccrine ostial and dermal duct nevus
Disease
171723
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723
White sponge nevus
Disease
263425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263425
Nevus of Ota
Disease
263432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263432
Nevus of Ito
Disease
313936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936
PENS syndrome
Disease
370039
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370039
Angora hair nevus
Disease
370046
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370046
Didymosis aplasticosebacea
Disease
370052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370052
SCALP syndrome
Disease
370059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370059
NEVADA syndrome
Disease
497737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737
Epidermolytic nevus
Disease
300515
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300515
Rare nail tumor
Category
300504
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300504
Onychocytic matricoma
Disease
300512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300512
Onychomatricoma
Disease
306498
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498
PTEN hamartoma tumor syndrome
Clinical group
201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201
Cowden syndrome
Disease
65285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285
Lhermitte-Duclos disease
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
404560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560
Familial atypical multiple mole melanoma syndrome
Disease
411777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411777
Generalized eruptive keratoacanthoma
Disease
499182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499182
Pilomatrix carcinoma
Disease
538756
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756
Familial multiple discoid fibromas
Disease
569164
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569164
Angiomatoid fibrous histiocytoma
Disease
79387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79387
Metabolic disease with skin involvement
Category
738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738
Porphyria
Clinical group
79277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277
Congenital erythropoietic porphyria
Disease
79278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278
Autosomal erythropoietic protoporphyria
Disease
95157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157
Acute hepatic porphyria
Clinical group
79273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273
Hereditary coproporphyria
Disease
79276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276
Acute intermittent porphyria
Disease
79473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473
Porphyria variegata
Disease
100924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924
Porphyria due to ALA dehydratase deficiency
Disease
95161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161
Chronic hepatic porphyria
Clinical group
95159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159
Hepatoerythropoietic porphyria
Disease
101330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330
Porphyria cutanea tarda
Disease
443057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057
Sporadic porphyria cutanea tarda
Clinical subtype
443062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062
Familial porphyria cutanea tarda
Clinical subtype
280379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379
Erythropoietic uroporphyria associated with myeloid malignancy
Disease
443197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197
X-linked erythropoietic protoporphyria
Disease
742
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742
Prolidase deficiency
Disease
79217
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79217
Other metabolic disease with skin involvement
Category
56
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56
Alkaptonuria
Disease
148
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148
Multiple carboxylase deficiency
Clinical group
79241
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241
Biotinidase deficiency
Disease
79242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242
Holocarboxylase synthetase deficiency
Disease
37
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37
Acrodermatitis enteropathica
Disease
79388
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79388
Mucopolysaccharidosis with skin involvement
Category
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
371200
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371200
Congenital disorder of glycosylation with skin involvement
Category
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
79145
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145
Dowling-Degos disease
Disease
79318
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318
PMM2-CDG
Disease
79323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323
MPDU1-CDG
Disease
79333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333
COG7-CDG
Disease
91131
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131
DK1-CDG
Disease
306661
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Clinical subtype
324737
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737
SRD5A3-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
370933
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933
GM3 synthase deficiency
Disease
251523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523
Hyperzincemia and hypercalprotectinemia
Disease
79389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79389
Premature aging
Category
2109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109
Hallermann-Streiff-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
902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902
Werner syndrome
Disease
2047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047
Flynn-Aird syndrome
Disease
2108
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108
Hallermann-Streiff syndrome
Malformation syndrome
2500
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500
Acrogeria
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
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
3455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455
Wiedemann-Rautenstrauch syndrome
Malformation syndrome
2963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963
Progeroid syndrome, Petty type
Malformation syndrome
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
280576
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576
Nestor-Guillermo progeria syndrome
Malformation syndrome
363618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618
LMNA-related cardiocutaneous progeria 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
363665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665
Acroosteolysis-keloid-like lesions-premature aging syndrome
Disease
438134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134
PCNA-related progressive neurodegenerative photosensitivity syndrome
Disease
79390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79390
Rare photodermatosis
Category
97230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97230
Solar urticaria
Disease
178338
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338
UV-sensitive syndrome
Disease
220295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295
Xeroderma pigmentosum-Cockayne syndrome complex
Disease
330058
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330058
Hydroa vacciniforme
Disease
330061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330061
Actinic prurigo
Disease
330064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330064
Chronic actinic dermatitis
Disease
90342
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342
Xeroderma pigmentosum variant
Disease
125
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125
Bloom syndrome
Disease
2116
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116
Hartnup disease
Disease
738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738
Porphyria
Clinical group
79277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277
Congenital erythropoietic porphyria
Disease
79278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278
Autosomal erythropoietic protoporphyria
Disease
95157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157
Acute hepatic porphyria
Clinical group
79273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273
Hereditary coproporphyria
Disease
79276
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276
Acute intermittent porphyria
Disease
79473
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473
Porphyria variegata
Disease
100924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924
Porphyria due to ALA dehydratase deficiency
Disease
95161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161
Chronic hepatic porphyria
Clinical group
95159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159
Hepatoerythropoietic porphyria
Disease
101330
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330
Porphyria cutanea tarda
Disease
443057
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057
Sporadic porphyria cutanea tarda
Clinical subtype
443062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062
Familial porphyria cutanea tarda
Clinical subtype
280379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379
Erythropoietic uroporphyria associated with myeloid malignancy
Disease
443197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197
X-linked erythropoietic protoporphyria
Disease
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
910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910
Xeroderma pigmentosum
Disease
2908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908
Kindler epidermolysis bullosa
Disease
79391
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79391
Immune deficiency with skin involvement
Category
619972
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619972
CADINS disease
Disease
641368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
Disease
656912
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656912
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
Disease
656300
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656300
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
Disease
656326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656326
Autosomal recessive combined immunodeficiency due to IL6R deficiency
Disease
658946
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946
Early-onset autoimmune disorder due to DOCK11 partial deficiency
Disease
300359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359
PLCG2-associated antibody deficiency and immune dysregulation
Disease
596759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759
Combined immunodeficiency due to RELA haploinsufficiency
Disease
568056
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
Disease
906
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906
Wiskott-Aldrich syndrome
Disease
379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379
Chronic granulomatous disease
Disease
167
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167
Chédiak-Higashi syndrome
Disease
1334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334
Chronic mucocutaneous candidiasis
Disease
2314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
Disease
1839
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839
Hereditary mucoepithelial dysplasia
Malformation syndrome
302
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302
Epidermodysplasia verruciformis
Disease
314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314
Erythroderma desquamativum
Disease
79477
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477
Griscelli syndrome type 2
Clinical subtype
83617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
Malformation syndrome
157949
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949
Combined immunodeficiency with granulomatosis
Disease
90077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90077
Other acquired skin disease
Category
94059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94059
Uremic pruritus
Particular clinical situation in a disease or syndrome
1221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1221
Cheilitis glandularis
Disease
820
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820
Sneddon syndrome
Disease
222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222
Erosive pustular dermatosis of the scalp
Disease
499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499
Kerion celsi
Disease
901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=901
Wells syndrome
Disease
33314
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33314
Jessner lymphocytic infiltration of the skin
Disease
36237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36237
Bullous impetigo
Disease
37559
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37559
Acquired kinky hair syndrome
Disease
48377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48377
Subcorneal pustular dermatosis
Disease
54251
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54251
Corticosteroid-sensitive aseptic abscess syndrome
Disease
79099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79099
Interstitial granulomatous dermatitis with arthritis
Disease
97352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97352
Pellagra
Disease
137617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137617
Nephrogenic systemic fibrosis
Disease
166113
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113
Bazex syndrome
Disease
228379
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228379
Virus-associated trichodysplasia spinulosa
Disease
289347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289347
Infective dermatitis associated with HTLV-1
Disease
352763
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352763
Scleredema
Disease
3165
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3165
Eosinophilic fasciitis
Disease
645849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645849
Primary cutaneous tuberculosis
Disease
615943
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615943
Granuloma faciale
Disease
617408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617408
Classic eosinophilic pustular folliculitis
Disease
451602
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451602
Primary cutaneous plasmacytosis
Disease
451607
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451607
Cutaneous pseudolymphoma
Disease
66646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66646
Cutaneous mastocytosis
Clinical group
79455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79455
Cutaneous mastocytoma
Disease
79456
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79456
Diffuse cutaneous mastocytosis
Disease
280785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280785
Bullous diffuse cutaneous mastocytosis
Clinical subtype
280794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280794
Pseudoxanthomatous diffuse cutaneous mastocytosis
Clinical subtype
79457
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79457
Maculopapular cutaneous mastocytosis
Disease
90389
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90389
Telangiectasia macularis eruptiva perstans
Clinical subtype
158766
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158766
Typical urticaria pigmentosa
Clinical subtype
158769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158769
Plaque-form urticaria pigmentosa
Clinical subtype
158772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158772
Nodular urticaria pigmentosa
Clinical subtype
90000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90000
Erythema elevatum diutinum
Disease
290836
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290836
Systemic disease with skin involvement
Category
801
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=801
Scleroderma
Clinical group
90289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90289
Localized scleroderma
Disease
90291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90291
Systemic sclerosis
Disease
220393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220393
Diffuse cutaneous systemic sclerosis
Clinical subtype
220402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220402
Limited cutaneous systemic sclerosis
Clinical subtype
220407
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220407
Limited systemic sclerosis
Clinical subtype
221
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221
Dermatomyositis
Disease
645617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645617
Amyopathic dermatomyositis
Clinical subtype
645626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645626
Adermatopathic dermatomyositis
Clinical subtype
645613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645613
Classical dermatomyositis
Clinical subtype
779
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779
Reynolds syndrome
Disease
93672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93672
Juvenile dermatomyositis
Disease
157987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157987
Non-Langerhans cell histiocytosis
Clinical group
158029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158029
Sea-blue histiocytosis
Disease
158014
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158014
Rosaï-Dorfman disease
Disease
35687
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35687
Erdheim-Chester disease
Disease
139436
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139436
Multicentric reticulohistiocytosis
Disease
157991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157991
Generalized eruptive histiocytosis
Disease
157997
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157997
Benign cephalic histiocytosis
Disease
158000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158000
Juvenile xanthogranuloma
Disease
158003
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158003
Xanthoma disseminatum
Disease
158008
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158008
Papular xanthoma
Disease
158011
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158011
Necrobiotic xanthogranuloma
Disease
158019
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158019
Indeterminate cell histiocytosis
Disease
158022
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158022
Progressive nodular histiocytosis
Disease
158025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158025
Hereditary progressive mucinous histiocytosis
Disease
231111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231111
Drug-induced lupus erythematosus
Disease
290842
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290842
Autoinflammatory syndrome with skin involvement
Category
251523
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523
Hyperzincemia and hypercalprotectinemia
Disease
653434
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653434
Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
Clinical group
641380
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641380
PAPASH syndrome
Disease
69126
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126
PAPA syndrome
Disease
289478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478
PASH syndrome
Disease
641385
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641385
PASS syndrome
Disease
641390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641390
PsAPASH syndrome
Disease
793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=793
SAPHO syndrome
Disease
3243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243
Sweet syndrome
Disease
117
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117
Behçet disease
Disease
32960
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960
Tumor necrosis factor receptor 1 associated periodic syndrome
Disease
48104
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48104
Pyoderma gangrenosum
Disease
538863
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538863
Classic pyoderma gangrenosum
Clinical subtype
538866
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538866
Pustular pyoderma gangrenosum
Clinical subtype
538869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538869
Bullous pyoderma gangrenosum
Clinical subtype
538872
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538872
Vegetative pyoderma gangrenosum
Clinical subtype
77297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297
Majeed syndrome
Disease
90340
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340
Blau syndrome
Disease
208650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650
NLRP3-associated autoinflammatory disease
Clinical group
575
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575
Muckle-Wells syndrome
Disease
1451
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451
CINCA syndrome
Disease
47045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045
Familial cold urticaria
Disease
647815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815
Keratoendotheliitis fugax hereditaria
Disease
210115
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115
Sterile multifocal osteomyelitis with periostitis and pustulosis
Disease
247868
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868
NLRP12-associated hereditary periodic fever syndrome
Disease
251304
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251304
Infantile onset panniculitis with uveitis and systemic granulomatosis
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
324964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324964
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Disease
324977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977
Proteasome-associated autoinflammatory syndrome
Disease
404546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546
DITRA
Disease
425120
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120
STING-associated vasculopathy with onset in infancy
Disease
294023
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023
Neonatal inflammatory skin and bowel disease
Disease
576349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349
NLRC4-related familial cold autoinflammatory syndrome
Disease
436166
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Disease
619367
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367
SAMD9L-associated autoinflammatory syndrome
Disease
619363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363
Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18
Disease
596753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596753
VEXAS syndrome
Disease
617919
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919
F12-associated cold autoinflammatory syndrome
Disease
293815
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293815
Toxic dermatosis
Category
502499
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502499
Erythema multiforme major
Disease
95455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95455
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
Disease
537
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537
Toxic epidermal necrolysis
Clinical subtype
36426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36426
Stevens-Johnson syndrome
Clinical subtype
506784
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506784
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
Clinical subtype
139402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139402
Drug reaction with eosinophilia and systemic symptoms
Disease
293173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293173
Acute generalized exanthematous pustulosis
Disease
293812
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293812
Fixed drug eruption
Disease
315350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315350
Autoimmune disease with skin involvement
Category
535
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535
Rare cutaneous lupus erythematosus
Clinical group
163525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163525
Subacute cutaneous lupus erythematosus
Disease
163531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163531
Chronic cutaneous lupus erythematosus
Clinical group
481662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662
Familial Chilblain lupus
Disease
90280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280
Chilblain lupus
Disease
90281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90281
Discoid lupus erythematosus
Disease
90282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90282
Hypertrophic or verrucous lupus erythematosus
Disease
90283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90283
Lupus erythematosus tumidus
Disease
90285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90285
Lupus erythematosus panniculitis
Disease
79669
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79669
Autoimmune bullous skin disease
Clinical group
704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=704
Pemphigus vulgaris
Disease
1656
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1656
Dermatitis herpetiformis
Disease
703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=703
Bullous pemphigoid
Disease
46485
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46485
Superficial pemphigus
Clinical group
636955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636955
Endemic pemphigus foliaceus
Disease
79480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79480
Pemphigus erythematosus
Disease
79481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79481
Pemphigus foliaceus
Disease
208524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208524
Herpetiform pemphigus
Disease
46486
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486
Mucous membrane pemphigoid
Disease
46487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46487
Epidermolysis bullosa acquisita
Disease
46488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46488
Linear IgA dermatosis
Disease
63275
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63275
Pemphigoid gestationis
Disease
63455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63455
Paraneoplastic pemphigus
Disease
555905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555905
IgA pemphigus
Disease
454710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454710
Anti-p200 pemphigoid
Disease
79479
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79479
Pemphigus vegetans
Disease
324636
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324636
Autoerythrocyte sensitization syndrome
Disease
658584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658584
Rowell syndrome
Disease