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CC-BY-4.0
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162946
Orphanet classification of rare endocrine diseases
97978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97978
Rare endocrine disease
Category
785
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785
Estrogen resistance syndrome
Disease
877
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=877
Neuroendocrine neoplasm
Category
100093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100093
Carcinoid syndrome
Clinical syndrome
100092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100092
Gastroenteropancreatic neuroendocrine neoplasm
Category
506052
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506052
Neuroendocrine neoplasm of pancreas
Category
97253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97253
Neuroendocrine tumor of pancreas
Category
506060
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506060
Functioning neuroendocrine tumor of pancreas
Category
913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913
Zollinger-Ellison syndrome
Disease
97261
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97261
GRFoma
Disease
97278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97278
PPoma
Disease
97279
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97279
Insulinoma
Disease
97280
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97280
Glucagonoma
Disease
97282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97282
VIPoma
Disease
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
99889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889
Cushing syndrome due to ectopic ACTH secretion
Disease
506090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506090
Serotonin-producing neuroendocrine tumor of pancreas
Disease
506075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506075
Non-functioning neuroendocrine tumor of pancreas
Disease
506098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506098
Neuroendocrine carcinoma of pancreas
Disease
506112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506112
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
Disease
481508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481508
Gastroenteric neuroendocrine neoplasm
Category
100075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100075
Neuroendocrine tumor of stomach
Disease
100079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100079
Neuroendocrine neoplasm of appendix
Disease
329977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329977
Classic neuroendocrine tumor of appendix
Clinical subtype
329984
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329984
Goblet cell carcinoma
Clinical subtype
100080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100080
Neuroendocrine tumor of the colon
Disease
100081
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100081
Neuroendocrine tumor of the rectum
Disease
100082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100082
Neuroendocrine tumor of anal canal
Disease
423975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423975
Neuroendocrine tumor of the small intestine
Category
100078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100078
Ileal neuroendocrine tumor
Disease
100076
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100076
Duodenal neuroendocrine tumor
Category
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=913
Zollinger-Ellison syndrome
Disease
100077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100077
Jejunal neuroendocrine tumor
Category
97283
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97283
Somatostatinoma
Disease
506136
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506136
Neuroendocrine neoplasm of esophagus
Disease
100101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100101
Neuroendocrine tumor with other location
Category
79140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79140
Cutaneous neuroendocrine carcinoma
Disease
97287
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97287
Bronchial neuroendocrine tumor
Disease
100083
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100083
Laryngeal neuroendocrine tumor
Disease
100084
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100084
Middle ear neuroendocrine tumor
Disease
100085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085
Primary hepatic neuroendocrine carcinoma
Disease
100086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086
Gallbladder neuroendocrine tumor
Disease
213731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213731
High-grade neuroendocrine carcinoma of the corpus uteri
Disease
97289
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97289
Thymic neuroendocrine tumor
Disease
213777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213777
High-grade neuroendocrine carcinoma of the cervix uteri
Disease
99869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99869
Thymic neuroendocrine carcinoma
Disease
263331
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263331
Well-differentiated thymic neuroendocrine carcinoma
Histopathological subtype
263335
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263335
Moderately-differentiated thymic neuroendocrine carcinoma
Histopathological subtype
263339
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263339
Poorly differentiated thymic neuroendocrine carcinoma
Histopathological subtype
284400
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284400
Small cell carcinoma of the bladder
Disease
178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178
Chordoma
Disease
68415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68415
Rare parathyroid disease and phosphocalcic metabolism anomaly
Category
405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405
Familial hypocalciuric hypercalcemia
Disease
93372
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372
Familial hypocalciuric hypercalcemia type 1
Etiological subtype
101049
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049
Familial hypocalciuric hypercalcemia type 2
Etiological subtype
101050
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050
Familial hypocalciuric hypercalcemia type 3
Etiological subtype
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
100090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100090
Rare parathyroid tumor
Category
2207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207
Familial primary hyperparathyroidism
Clinical group
99879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879
Familial isolated hyperparathyroidism
Disease
99880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880
Hyperparathyroidism-jaw tumor syndrome
Disease
143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143
Parathyroid carcinoma
Disease
181405
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181405
Rare hypoparathyroidism
Category
2238
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238
Familial isolated hypoparathyroidism
Disease
2239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Clinical subtype
428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428
Autosomal dominant hypocalcemia
Clinical subtype
189466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466
Familial isolated hypoparathyroidism due to impaired PTH secretion
Clinical subtype
3453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Autoimmune polyendocrinopathy type 1
Disease
36913
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36913
Autoimmune hypoparathyroidism
Disease
97593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593
Pseudohypoparathyroidism
Category
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
457062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457062
Pseudohypoparathyroidism without Albright hereditary osteodystrophy
Clinical group
94089
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089
Pseudohypoparathyroidism type 1B
Disease
94090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090
Pseudohypoparathyroidism type 2
Disease
140286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140286
Secondary hypoparathyroidism due to impaired parathormon secretion
Disease
181402
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181402
Syndrome with hypoparathyroidism
Category
589856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Malformation syndrome
480
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480
Kearns-Sayre syndrome
Disease
567
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567
22q11.2 deletion syndrome
Malformation syndrome
699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699
Pearson syndrome
Disease
1563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563
Dahlberg-Borer-Newcomer syndrome
Malformation syndrome
2237
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Malformation syndrome
2323
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323
Sanjad-Sakati syndrome
Malformation syndrome
2333
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333
Kenny-Caffey syndrome
Malformation syndrome
93324
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324
Autosomal recessive Kenny-Caffey syndrome
Etiological subtype
93325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325
Autosomal dominant Kenny-Caffey syndrome
Etiological subtype
5
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Disease
181408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181408
Rare hyperparathyroidism
Category
417
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417
Neonatal severe primary hyperparathyroidism
Disease
2207
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207
Familial primary hyperparathyroidism
Clinical group
99879
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879
Familial isolated hyperparathyroidism
Disease
99880
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880
Hyperparathyroidism-jaw tumor syndrome
Disease
143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143
Parathyroid carcinoma
Disease
289098
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098
Disorders of vitamin D metabolism
Category
437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437
Hypophosphatemic rickets
Clinical group
1652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652
Dent disease
Disease
93622
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622
Dent disease type 1
Clinical subtype
93623
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623
Dent disease type 2
Clinical subtype
244305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Disease
89936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936
X-linked hypophosphatemia
Disease
89937
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937
Autosomal dominant hypophosphatemic rickets
Disease
157215
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215
Hereditary hypophosphatemic rickets with hypercalciuria
Disease
289176
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176
Autosomal recessive hypophosphatemic rickets
Disease
289103
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103
Hypocalcemic rickets
Clinical group
93160
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160
Hypocalcemic vitamin D-resistant rickets
Disease
289157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157
Hypocalcemic vitamin D-dependent rickets
Disease
300547
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547
Autosomal recessive infantile hypercalcemia
Disease
352540
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352540
Oncogenic osteomalacia
Disease
77828
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77828
Genetic obesity
Category
98267
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98267
Genetic non-syndromic obesity
Disease
66628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628
Obesity due to congenital leptin deficiency
Etiological subtype
179490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490
Obesity due to congenital leptin resistance
Etiological subtype
71526
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526
Obesity due to pro-opiomelanocortin deficiency
Etiological subtype
71528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528
Obesity due to prohormone convertase I deficiency
Etiological subtype
71529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529
Obesity due to melanocortin 4 receptor deficiency
Etiological subtype
179494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494
Obesity due to leptin receptor gene deficiency
Etiological subtype
329249
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Etiological subtype
369873
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873
Obesity due to SIM1 deficiency
Etiological subtype
397615
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615
Obesity due to CEP19 deficiency
Etiological subtype
240371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240371
Syndromic obesity
Category
819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819
Smith-Magenis syndrome
Malformation syndrome
908
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908
Fragile X syndrome
Malformation syndrome
739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739
Prader-Willi syndrome
Disease
98754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Etiological subtype
98793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
Etiological subtype
177901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Etiological subtype
177904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Etiological subtype
177907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907
Prader-Willi syndrome due to translocation
Etiological subtype
177910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910
Prader-Willi syndrome due to imprinting mutation
Etiological subtype
783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783
Rubinstein-Taybi syndrome
Malformation syndrome
353277
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277
Rubinstein-Taybi syndrome due to CREBBP mutations
Etiological subtype
353281
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Etiological subtype
353284
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Etiological subtype
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192
Coffin-Lowry syndrome
Malformation syndrome
193
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193
Cohen syndrome
Malformation syndrome
276630
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630
Symptomatic form of Coffin-Lowry syndrome in female carriers
Malformation syndrome
457059
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Clinical group
79443
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443
Pseudohypoparathyroidism type 1A
Disease
79444
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444
Pseudohypoparathyroidism type 1C
Disease
79445
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445
Pseudopseudohypoparathyroidism
Disease
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
127
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127
Borjeson-Forssman-Lehmann syndrome
Malformation syndrome
1435
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435
Xq21 microdeletion syndrome
Malformation syndrome
2563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563
MOMO syndrome
Malformation syndrome
3459
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459
Wilson-Turner syndrome
Malformation syndrome
2183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183
Hydrocephalus-obesity-hypogonadism syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
2637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637
Microcephalic osteodysplastic primordial dwarfism type II
Malformation syndrome
65759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759
Carpenter syndrome
Malformation syndrome
75858
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858
MORM syndrome
Disease
85282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282
MEHMO syndrome
Malformation syndrome
254516
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516
Temple syndrome
Malformation syndrome
96184
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184
Temple syndrome due to maternal uniparental disomy of chromosome 14
Etiological subtype
254525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525
Temple syndrome due to paternal 14q32.2 microdeletion
Etiological subtype
254531
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531
Temple syndrome due to paternal 14q32.2 hypomethylation
Etiological subtype
261222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222
Distal 16p11.2 microdeletion syndrome
Malformation syndrome
293987
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Disease
352530
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Disease
363741
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Disease
369950
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950
Intellectual disability-seizures-macrocephaly-obesity syndrome
Disease
397973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Disease
398073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073
Prader-Willi-like syndrome
Clinical group
633028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028
CPE-related Prader-Willi-like syndrome
Disease
171829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
6q16 microdeletion syndrome
Disease
398079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079
SIM1-related Prader-Willi-like syndrome
Disease
398069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069
MAGEL2-related Prader-Willi-like syndrome
Disease
444077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Malformation syndrome
99704
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704
Early-onset obesity-hyperphagia-severe developmental delay syndrome
Disease
521390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
Malformation syndrome
589905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Disease
464288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288
Short stature-brachydactyly-obesity-global developmental delay syndrome
Malformation syndrome
652487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487
Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
Malformation syndrome
620363
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Disease
600731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731
Clark-Baraitser syndrome
Malformation syndrome
647799
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799
MYT1L-related developmental delay-intellectual disability-obesity syndrome
Disease
90692
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90692
Rare endocrine growth disease
Category
494433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433
MIRAGE syndrome
Disease
418
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418
Congenital adrenal hyperplasia
Clinical group
90790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease
325524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
90791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
90794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Disease
315306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Clinical subtype
315311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Clinical subtype
90795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Disease
95699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Disease
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442
Congenital hypothyroidism
Category
178045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178045
Transient congenital hypothyroidism
Clinical group
238696
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238696
Transient congenital hypothyroidism due to maternal factor
Category
1910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910
Fetal iodine syndrome
Malformation syndrome
95715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95715
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
Disease
226313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226313
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Disease
238699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238699
Transient congenital hypothyroidism due to neonatal factor
Category
226316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316
Genetic transient congenital hypothyroidism
Disease
238688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238688
Neonatal iodine exposure
Disease
226292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292
Permanent congenital hypothyroidism
Category
177107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107
Syndromic hypothyroidism
Category
597746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Malformation syndrome
2321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321
Jung syndrome
Malformation syndrome
705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705
Pendred syndrome
Malformation syndrome
1226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226
Bamforth-Lazarus 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
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
2349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349
Muscular pseudohypertrophy-hypothyroidism syndrome
Disease
88643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Disease
209905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905
Brain-lung-thyroid syndrome
Disease
453533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533
Polyendocrine-polyneuropathy syndrome
Disease
456312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312
Infantile multisystem neurologic-endocrine-pancreatic disease
Disease
589856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Malformation syndrome
226295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295
Primary congenital hypothyroidism
Clinical group
95711
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711
Congenital hypothyroidism due to developmental anomaly
Category
95712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712
Thyroid ectopia
Morphological anomaly
95713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713
Athyreosis
Morphological anomaly
95719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719
Thyroid hemiagenesis
Morphological anomaly
95720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720
Thyroid hypoplasia
Morphological anomaly
95714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714
Primary congenital hypothyroidism without thyroid developmental anomaly
Category
90673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673
Hypothyroidism due to TSH receptor mutations
Disease
95716
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716
Familial thyroid dyshormonogenesis
Disease
95717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717
Idiopathic congenital hypothyroidism
Disease
226298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298
Central congenital hypothyroidism
Clinical group
90674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674
Isolated thyroid-stimulating hormone deficiency
Disease
99832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832
Resistance to thyrotropin-releasing hormone syndrome
Disease
226307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Disease
238670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670
Isolated thyrotropin-releasing hormone deficiency
Disease
329235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Disease
54595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595
Craniopharyngioma
Disease
95488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95488
Non-acquired pituitary hormone deficiency
Category
631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631
Non-acquired isolated growth hormone deficiency
Disease
629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629
Short stature due to growth hormone qualitative anomaly
Clinical subtype
231662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662
Isolated growth hormone deficiency type IA
Clinical subtype
231671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671
Isolated growth hormone deficiency type IB
Clinical subtype
231679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679
Isolated growth hormone deficiency type II
Clinical subtype
231692
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692
Isolated growth hormone deficiency type III
Clinical subtype
632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Clinical subtype
67045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045
X-linked intellectual disability with isolated growth hormone deficiency
Clinical subtype
467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467
Non-acquired combined pituitary hormone deficiency
Category
95495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95495
Disease associated with non-acquired combined pituitary hormone deficiency
Category
2162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162
Holoprosencephaly
Malformation syndrome
93925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925
Alobar holoprosencephaly
Clinical subtype
93926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926
Midline interhemispheric variant of holoprosencephaly
Clinical subtype
220386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386
Semilobar holoprosencephaly
Clinical subtype
93924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924
Lobar holoprosencephaly
Clinical subtype
280195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195
Septopreoptic holoprosencephaly
Clinical subtype
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
3157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157
Septo-optic dysplasia spectrum
Malformation syndrome
782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Axenfeld-Rieger syndrome
Malformation syndrome
77298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298
Anophthalmia/microphthalmia-esophageal atresia syndrome
Malformation syndrome
85442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Disease
157954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954
ANE syndrome
Disease
231720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Malformation syndrome
293978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Disease
420584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Malformation syndrome
178025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025
Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
Category
90695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695
Non-acquired panhypopituitarism
Disease
95494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494
Combined pituitary hormone deficiencies, genetic forms
Disease
90674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674
Isolated thyroid-stimulating hormone deficiency
Disease
95496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496
Pituitary stalk interruption syndrome
Morphological anomaly
174590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590
Congenital hypogonadotropic hypogonadism
Category
181387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
Category
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739
Prader-Willi syndrome
Disease
98754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Etiological subtype
98793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
Etiological subtype
177901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Etiological subtype
177904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Etiological subtype
177907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907
Prader-Willi syndrome due to translocation
Etiological subtype
177910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910
Prader-Willi syndrome due to imprinting mutation
Etiological subtype
2377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377
Laurence-Moon syndrome
Malformation syndrome
1173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173
Cerebellar ataxia-hypogonadism syndrome
Disease
1180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180
Ataxia-hypogonadism-choroidal dystrophy syndrome
Disease
1387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387
Cataract-intellectual disability-hypogonadism syndrome
Malformation syndrome
2230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Disease
2235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Disease
2250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Disease
2560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Malformation syndrome
3464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464
Woodhouse-Sakati syndrome
Disease
2326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326
Kallmann syndrome-heart disease syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
88637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Clinical subtype
157954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954
ANE syndrome
Disease
293967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Malformation syndrome
398073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073
Prader-Willi-like syndrome
Clinical group
633028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028
CPE-related Prader-Willi-like syndrome
Disease
171829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
6q16 microdeletion syndrome
Disease
398079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079
SIM1-related Prader-Willi-like syndrome
Disease
398069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069
MAGEL2-related Prader-Willi-like syndrome
Disease
1295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295
Brachytelephalangy-dysmorphism-Kallmann syndrome
Malformation syndrome
453533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533
Polyendocrine-polyneuropathy syndrome
Disease
181390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
Category
66628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628
Obesity due to congenital leptin deficiency
Etiological subtype
71528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528
Obesity due to prohormone convertase I deficiency
Etiological subtype
90695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695
Non-acquired panhypopituitarism
Disease
95494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494
Combined pituitary hormone deficiencies, genetic forms
Disease
95700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Disease
95702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702
X-linked adrenal hypoplasia congenita
Disease
179494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494
Obesity due to leptin receptor gene deficiency
Etiological subtype
238666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666
Isolated congenital hypogonadotropic hypogonadism
Disease
478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478
Kallmann syndrome
Clinical subtype
432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432
Normosmic congenital hypogonadotropic hypogonadism
Clinical subtype
52901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901
Isolated follicle stimulating hormone deficiency
Disease
199296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296
Congenital isolated ACTH deficiency
Disease
314811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811
Short stature due to GHSR deficiency
Disease
95708
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95708
Rare precocious puberty
Category
650063
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650063
Rare central precocious puberty
Clinical group
649929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649929
Central precocious puberty in male
Clinical group
650087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650087
Primary central precocious puberty in male
Disease
650097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650097
Genetic central precocious puberty in male
Clinical subtype
650102
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650102
Non-genetic central precocious puberty in male
Clinical subtype
650092
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650092
Secondary central precocious puberty in male
Disease
650070
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650070
Rare central precocious puberty in female
Clinical group
650077
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650077
Genetic central precocious puberty in female
Disease
650082
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650082
Secondary central precocious puberty in female
Disease
178040
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178040
Rare peripheral precocious puberty
Category
562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562
McCune-Albright syndrome
Disease
3000
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000
Familial peripheral male-limited precocious puberty
Disease
178345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345
Aromatase excess syndrome
Disease
95709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95709
Acquired premature ovarian failure
Category
3143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143
Autoimmune polyendocrinopathy type 2
Disease
3453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Autoimmune polyendocrinopathy type 1
Disease
95710
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95710
Non-acquired premature ovarian failure
Category
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
100
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100
Ataxia-telangiectasia
Disease
9
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9
Tetrasomy X
Malformation syndrome
243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243
46,XX gonadal dysgenesis
Malformation syndrome
3375
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375
Trisomy X
Malformation syndrome
2855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855
Perrault syndrome
Disease
642945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945
Perrault syndrome type 1
Clinical subtype
642976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976
Perrault syndrome type 2
Clinical subtype
91
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91
Aromatase deficiency
Disease
75325
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Disease
79239
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239
Classic galactosemia
Disease
90790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease
325524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
96201
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201
X small rings
Malformation syndrome
436182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182
Microcephalic primordial dwarfism-insulin resistance syndrome
Malformation syndrome
444048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048
46,XX ovarian dysgenesis-short stature syndrome
Disease
3130
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3130
Satoyoshi syndrome
Disease
449291
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449291
Symptomatic form of fragile X syndrome in female carriers
Disease
572354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Clinical subtype
642691
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691
Fragile X-associated primary ovarian insufficiency
Disease
181393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181393
Growth hormone insensitivity syndrome
Category
633
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633
Laron syndrome
Disease
73272
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272
Growth delay due to insulin-like growth factor type 1 deficiency
Disease
73273
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273
Growth delay due to insulin-like growth factor I resistance
Disease
140941
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941
Short stature due to primary acid-labile subunit deficiency
Disease
220465
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465
Laron syndrome with immunodeficiency
Disease
314802
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802
Short stature due to partial GHR deficiency
Disease
436174
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Disease
85173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173
IMAGe syndrome
Malformation syndrome
90771
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90771
Difference of sex development
Category
2982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2982
46,XX difference of sex development
Category
98078
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98078
46,XX difference of sex development induced by androgens excess
Category
90776
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776
46,XX difference of sex development induced by fetal androgens excess
Category
786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786
Generalized glucocorticoid resistance syndrome
Disease
90791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease
90794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Disease
315306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Clinical subtype
315311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Clinical subtype
90795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Disease
95699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Disease
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
91144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91144
46,XX difference of sex development induced by maternal-derived androgen
Category
325093
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325093
46,XX difference of sex development induced by endogenous maternal-derived androgen
Clinical group
325099
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325099
46,XX difference of sex development induced by exogenous maternal-derived androgen
Clinical group
325061
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325061
46,XX difference of sex development induced by fetoplacental androgens excess
Category
91
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91
Aromatase deficiency
Disease
325055
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325055
46,XX disorder of gonadal development
Category
243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243
46,XX gonadal dysgenesis
Malformation syndrome
2138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138
46,XX ovotesticular difference of sex development
Malformation syndrome
393
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393
46,XX testicular difference of sex development
Malformation syndrome
444048
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048
46,XX ovarian dysgenesis-short stature syndrome
Disease
325109
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325109
Syndrome with 46,XX difference of sex development
Category
991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991
PAGOD syndrome
Malformation syndrome
2855
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855
Perrault syndrome
Disease
642945
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945
Perrault syndrome type 1
Clinical subtype
642976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976
Perrault syndrome type 2
Clinical subtype
2973
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973
46,XX difference of sex development-anorectal anomalies syndrome
Malformation syndrome
2975
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975
46,XX difference of sex development-skeletal anomalies syndrome
Malformation syndrome
85112
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Disease
137631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Disease
139466
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466
SERKAL syndrome
Malformation syndrome
247768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768
Müllerian aplasia and hyperandrogenism
Malformation syndrome
98085
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085
46,XY difference of sex development
Category
49
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49
Penile agenesis
Morphological anomaly
98087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98087
Syndrome with 46,XY difference of sex development
Category
893
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893
WAGR syndrome
Malformation syndrome
1642
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642
Distal deletion 9p
Malformation syndrome
1770
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770
XY type gonadal dysgenesis-associated anomalies syndrome
Malformation syndrome
2983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983
Difference of sex development-intellectual disability syndrome
Disease
1422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422
Chondrodysplasia-difference of sex development syndrome
Malformation syndrome
847
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847
Alpha-thalassemia-X-linked intellectual disability syndrome
Malformation syndrome
140
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140
Campomelic dysplasia
Malformation syndrome
991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991
PAGOD syndrome
Malformation syndrome
2282
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282
Dysmorphism-short stature-deafness-difference of sex development syndrome
Malformation syndrome
3097
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097
Meacham syndrome
Malformation syndrome
220
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220
Denys-Drash syndrome
Disease
347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347
Frasier syndrome
Disease
452
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452
X-linked lissencephaly with abnormal genitalia
Malformation syndrome
95700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Disease
168563
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Malformation syndrome
168593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593
Sudden infant death-dysgenesis of the testes syndrome
Malformation syndrome
456328
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328
X-linked myotubular myopathy-abnormal genitalia syndrome
Disease
494433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433
MIRAGE syndrome
Disease
2075
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075
Genitopalatocardiac syndrome
Malformation syndrome
325118
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325118
46,XY disorder of gonadal development
Category
242
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242
46,XY complete gonadal dysgenesis
Malformation syndrome
983
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983
Testicular regression syndrome
Morphological anomaly
251510
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510
46,XY partial gonadal dysgenesis
Malformation syndrome
325124
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124
Testicular agenesis
Morphological anomaly
325345
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345
46,XY ovotesticular difference of sex development
Disease
325351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325351
46,XY difference of sex development of endocrine origin
Category
754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754
Androgen insensitivity syndrome
Clinical group
90797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797
Partial androgen insensitivity syndrome
Disease
99429
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429
Complete androgen insensitivity syndrome
Disease
2856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856
Persistent Müllerian duct syndrome
Malformation syndrome
325357
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357
46,XY difference of sex development due to impaired androgen production
Category
755
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755
Leydig cell hypoplasia
Disease
96265
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265
Leydig cell hypoplasia due to complete LH resistance
Clinical subtype
96266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266
Leydig cell hypoplasia due to partial LH resistance
Clinical subtype
325448
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448
Leydig cell hypoplasia due to LHB deficiency
Clinical subtype
90783
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783
46,XY difference of sex development due to a testosterone synthesis defect
Category
90786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786
46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
Category
90790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease
325524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
90791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
95699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Disease
168558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
Disease
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
90787
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787
46,XY difference of sex development due to testicular steroidogenesis defect
Category
752
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Disease
90796
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796
46,XY difference of sex development due to isolated 17,20-lyase deficiency
Disease
325511
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511
46,XY difference of sex development due to a cholesterol synthesis defect
Category
818
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818
Smith-Lemli-Opitz syndrome
Malformation syndrome
98086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086
46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
Category
753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Disease
443090
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090
46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
Category
443087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Disease
325537
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325537
46,XY difference of sex development induced by maternal exposure to endocrine disruptors
Category
325546
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325546
Sex chromosome difference of sex development
Category
881
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881
Turner syndrome
Malformation syndrome
99226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226
Monosomy X
Etiological subtype
99228
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228
Mosaic monosomy X
Etiological subtype
99413
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413
Turner syndrome due to structural X chromosome anomalies
Etiological subtype
10
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10
48,XXYY syndrome
Malformation syndrome
1772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772
45,X/46,XY mixed gonadal dysgenesis
Malformation syndrome
96263
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263
48,XXXY syndrome
Malformation syndrome
96264
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264
49,XXXXY syndrome
Malformation syndrome
199310
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310
Tetragametic chimerism
Malformation syndrome
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
101952
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101952
Rare diabetes mellitus
Category
224
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224
Neonatal diabetes mellitus
Category
65288
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Malformation syndrome
79134
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134
DEND syndrome
Disease
99885
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885
Isolated permanent neonatal diabetes mellitus
Disease
99886
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886
Transient neonatal diabetes mellitus
Disease
99989
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989
Intermediate DEND syndrome
Disease
181368
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181368
Rare insulin-resistance syndrome
Category
508
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508
Leprechaunism
Malformation syndrome
528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528
Congenital generalized lipodystrophy
Disease
2297
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297
Insulin-resistance syndrome type A
Disease
769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769
Rabson-Mendenhall syndrome
Malformation syndrome
3163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163
SHORT syndrome
Malformation syndrome
2298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298
Insulin-resistance syndrome type B
Disease
66518
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518
Short fifth metacarpals-insulin resistance syndrome
Disease
79086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086
Acquired generalized lipodystrophy
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
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
436144
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Disease
436182
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182
Microcephalic primordial dwarfism-insulin resistance syndrome
Malformation syndrome
181371
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181371
Rare diabetes mellitus type 1
Category
3044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Malformation syndrome
3463
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463
Wolfram syndrome
Disease
168569
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569
H syndrome
Malformation syndrome
227982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982
Autoimmune polyendocrinopathy type 3
Disease
411590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590
Wolfram-like syndrome
Disease
181376
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181376
Rare diabetes mellitus type 2
Category
64
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64
Alström syndrome
Disease
552
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552
MODY
Disease
93111
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Clinical subtype
391408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Disease
544628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Disease
181381
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181381
Other rare diabetes mellitus
Category
3198
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3198
Stiff person spectrum disorder
Disease
438266
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438266
Progressive encephalomyelitis with rigidity and myoclonus
Clinical subtype
443192
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443192
Classic stiff person syndrome
Clinical subtype
443804
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443804
Focal stiff limb syndrome
Clinical subtype
676
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676
Hereditary chronic pancreatitis
Disease
1133
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133
AREDYLD syndrome
Malformation syndrome
1667
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667
Wolcott-Rallison syndrome
Disease
2255
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Disease
3464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464
Woodhouse-Sakati syndrome
Disease
2596
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596
Myopathy and diabetes mellitus
Disease
225
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225
Maternally-inherited diabetes and deafness
Disease
49827
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827
Thiamine-responsive megaloblastic anemia syndrome
Disease
306558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Disease
445062
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Disease
453533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533
Polyendocrine-polyneuropathy syndrome
Disease
101953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953
Rare dyslipidemia
Category
181422
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422
Rare hyperlipidemia
Category
412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412
Dysbetalipoproteinemia
Disease
181428
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428
Hyperalphalipoproteinemia
Clinical group
79506
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79506
Cholesterol-ester transfer protein deficiency
Disease
140905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Disease
444490
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490
Familial chylomicronemia syndrome
Disease
309015
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015
Familial lipoprotein lipase deficiency
Etiological subtype
309020
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020
Familial apolipoprotein C-II deficiency
Etiological subtype
535453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453
Familial lipase maturation factor 1 deficiency
Etiological subtype
535458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458
Familial GPIHBP1 deficiency
Etiological subtype
530849
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849
Familial apolipoprotein A5 deficiency
Etiological subtype
477811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811
Rare hypercholesterolemia
Category
209902
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Disease
391665
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665
Homozygous familial hypercholesterolemia
Disease
466703
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703
TMEM199-CDG
Disease
468684
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684
CCDC115-CDG
Disease
77293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293
Chronic visceral acid sphingomyelinase deficiency
Disease
618891
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891
Chronic neurovisceral acid sphingomyelinase deficiency
Disease
181431
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431
Rare hypolipidemia
Category
31153
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153
Hypoalphalipoproteinemia
Clinical group
650
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650
LCAT deficiency
Disease
79292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292
Fish-eye disease
Clinical subtype
79293
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293
Familial LCAT deficiency
Clinical subtype
425
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425
Apolipoprotein A-I deficiency
Disease
31150
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150
Tangier disease
Disease
31154
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154
Hypobetalipoproteinemia
Clinical group
14
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14
Abetalipoproteinemia
Disease
71
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71
Chylomicron retention disease
Disease
181437
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437
Rare syndromic dyslipidemia
Category
909
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909
Cerebrotendinous xanthomatosis
Disease
2882
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882
Sitosterolemia
Disease
275761
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761
Lysosomal acid lipase deficiency
Disease
75233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233
Wolman disease
Clinical subtype
75234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234
Cholesteryl ester storage disease
Clinical subtype
329481
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481
Lipoprotein glomerulopathy
Disease
101954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101954
Rare adrenal disease
Category
641613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641613
Endogenous Cushing syndrome
Category
647758
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647758
Adrenal Cushing syndrome
Clinical group
314749
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314749
Rare disease with adrenal Cushing syndrome as a major feature
Category
652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652
Multiple endocrine neoplasia type 1
Disease
524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524
Li-Fraumeni syndrome
Disease
562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562
McCune-Albright syndrome
Disease
1359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359
Carney complex
Disease
2976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976
Pseudoleprechaunism syndrome, Patterson type
Malformation syndrome
1501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501
Adrenocortical carcinoma
Disease
647768
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647768
Rare adrenocortical nodular disease with Cushing syndrome as a major feature
Clinical group
647772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647772
Isolated primary pigmented nodular adrenocortical disease
Disease
647782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647782
Isolated micronodular adrenocortical disease
Disease
642788
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642788
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Disease
189427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427
Cushing syndrome due to bilateral macronodular adrenocortical disease
Disease
99892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99892
ACTH-dependent Cushing syndrome
Clinical group
96253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253
Cushing disease
Disease
99889
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99889
Cushing syndrome due to ectopic ACTH secretion
Disease
320
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320
Apparent mineralocorticoid excess
Disease
100091
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100091
Adrenal/paraganglial tumor
Category
1501
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1501
Adrenocortical carcinoma
Disease
404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404
Familial hyperaldosteronism type II
Disease
649017
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649017
Rare adrenocortical nodular disease
Clinical group
647772
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647772
Isolated primary pigmented nodular adrenocortical disease
Disease
647782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647782
Isolated micronodular adrenocortical disease
Disease
652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652
Multiple endocrine neoplasia type 1
Disease
573163
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573163
Pheochromocytoma-paraganglioma
Clinical group
324299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299
Multiple paragangliomas associated with polycythemia
Disease
29072
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072
Hereditary pheochromocytoma-paraganglioma
Disease
276621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276621
Sporadic pheochromocytoma/secreting paraganglioma
Disease
94080
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94080
Non-functioning paraganglioma
Disease
1359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359
Carney complex
Disease
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
247698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698
Multiple endocrine neoplasia type 2A
Clinical subtype
247709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709
Multiple endocrine neoplasia type 2B
Clinical subtype
91351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351
Pituitary dermoid and epidermoid cysts
Disease
101958
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101958
Primary adrenal insufficiency
Category
95409
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95409
Acute adrenal insufficiency
Clinical syndrome
100067
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100067
Waterhouse-Friderichsen syndrome
Clinical subtype
319205
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319205
Bilateral massive adrenal hemorrhage
Etiological subtype
101959
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101959
Chronic primary adrenal insufficiency
Category
101960
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101960
Genetic chronic primary adrenal insufficiency
Category
43
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43
X-linked adrenoleukodystrophy
Disease
139396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396
X-linked cerebral adrenoleukodystrophy
Clinical subtype
139399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399
Adrenomyeloneuropathy
Clinical subtype
869
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869
Triple A syndrome
Disease
977
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977
Adrenomyodystrophy
Disease
361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361
Familial glucocorticoid deficiency
Disease
168558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
Disease
289548
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Disease
3453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Autoimmune polyendocrinopathy type 1
Disease
44
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44
Neonatal adrenoleukodystrophy
Disease
418
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418
Congenital adrenal hyperplasia
Clinical group
90790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease
325524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
90791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
90794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Disease
315306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Clinical subtype
315311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Clinical subtype
90795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Disease
95699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Disease
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
595337
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595337
Adrenal hypoplasia congenita
Clinical group
85173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173
IMAGe syndrome
Malformation syndrome
95700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Disease
95702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702
X-linked adrenal hypoplasia congenita
Disease
494433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433
MIRAGE syndrome
Disease
506334
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Disease
261476
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476
Xp21 deletion syndrome
Disease
199332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332
Endocrine-cerebro-osteodysplasia syndrome
Malformation syndrome
101963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101963
Acquired chronic primary adrenal insufficiency
Category
3143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143
Autoimmune polyendocrinopathy type 2
Disease
85138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85138
Addison disease
Disease
181412
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181412
Adrenogenital syndrome
Category
418
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418
Congenital adrenal hyperplasia
Clinical group
90790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790
Congenital lipoid adrenal hyperplasia due to STAR deficency
Disease
325524
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
325529
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Clinical subtype
90791
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Disease
90793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disease
90794
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Disease
315306
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Clinical subtype
315311
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Clinical subtype
90795
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Disease
95699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Disease
63269
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Clinical subtype
786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786
Generalized glucocorticoid resistance syndrome
Disease
168588
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588
Hyperandrogenism due to cortisone reductase deficiency
Malformation syndrome
494433
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433
MIRAGE syndrome
Disease
181415
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181415
Rare primary hyperaldosteronism
Category
231637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231637
Rare surgically correctable form of primary aldosteronism
Category
231580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231580
Primary unilateral adrenal hyperplasia
Disease
231625
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231625
Adrenocortical carcinoma with pure aldosterone hypersecretion
Disease
369929
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Disease
231641
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231641
Rare non surgically correctable form of primary aldosteronism
Category
231632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231632
Ectopic aldosterone-producing tumor
Disease
235936
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936
Familial hyperaldosteronism
Clinical group
403
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403
Familial hyperaldosteronism type I
Disease
404
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404
Familial hyperaldosteronism type II
Disease
251274
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274
Familial hyperaldosteronism type III
Disease
642671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671
Familial hyperaldosteronism type IV
Disease
181419
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181419
Rare hypoaldosteronism
Category
427
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427
Familial hypoaldosteronism
Disease
556030
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556030
Early-onset familial hypoaldosteronism
Clinical subtype
556037
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556037
Late-onset familial hypoaldosteronism
Clinical subtype
199247
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247
Corticosteroid-binding globulin deficiency
Disease
101955
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101955
Rare thyroid disease
Category
596426
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596426
Syndrome of reduced sensitivity to thyroid hormone
Clinical group
566231
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Disease
59
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59
Allan-Herndon-Dudley syndrome
Disease
171706
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Disease
566243
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Disease
597939
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597939
Euthyroid dysprealbuminemic hyperthyroxinemia
Disease
95718
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95718
Congenital thyroid malformation without hypothyroidism
Category
93953
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953
Familial thyroglossal duct cyst
Morphological anomaly
95719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719
Thyroid hemiagenesis
Morphological anomaly
95720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720
Thyroid hypoplasia
Morphological anomaly
100087
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100087
Rare thyroid tumor
Category
100088
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100088
Rare thyroid carcinoma
Category
99361
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361
Familial medullary thyroid carcinoma
Disease
146
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=146
Differentiated thyroid carcinoma
Disease
653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653
Multiple endocrine neoplasia type 2
Disease
247698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698
Multiple endocrine neoplasia type 2A
Clinical subtype
247709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709
Multiple endocrine neoplasia type 2B
Clinical subtype
142
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=142
Anaplastic thyroid carcinoma
Disease
1332
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1332
Medullary thyroid carcinoma
Disease
319494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319494
Familial nonmedullary thyroid carcinoma
Clinical group
97290
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290
Familial papillary thyroid carcinoma with renal papillary neoplasia
Disease
319487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487
Familial papillary or follicular thyroid carcinoma
Disease
97285
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97285
Thyroid lymphoma
Disease
181396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181396
Rare hypothyroidism
Category
442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442
Congenital hypothyroidism
Category
178045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178045
Transient congenital hypothyroidism
Clinical group
238696
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238696
Transient congenital hypothyroidism due to maternal factor
Category
1910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910
Fetal iodine syndrome
Malformation syndrome
95715
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95715
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
Disease
226313
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226313
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Disease
238699
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238699
Transient congenital hypothyroidism due to neonatal factor
Category
226316
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316
Genetic transient congenital hypothyroidism
Disease
238688
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238688
Neonatal iodine exposure
Disease
226292
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292
Permanent congenital hypothyroidism
Category
177107
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107
Syndromic hypothyroidism
Category
597746
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Malformation syndrome
2321
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321
Jung syndrome
Malformation syndrome
705
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705
Pendred syndrome
Malformation syndrome
1226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226
Bamforth-Lazarus 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
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
3047
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047
Blepharophimosis-intellectual disability syndrome, SBBYS type
Malformation syndrome
2349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349
Muscular pseudohypertrophy-hypothyroidism syndrome
Disease
88643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Disease
209905
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905
Brain-lung-thyroid syndrome
Disease
453533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533
Polyendocrine-polyneuropathy syndrome
Disease
456312
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312
Infantile multisystem neurologic-endocrine-pancreatic disease
Disease
589856
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Malformation syndrome
226295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295
Primary congenital hypothyroidism
Clinical group
95711
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711
Congenital hypothyroidism due to developmental anomaly
Category
95712
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712
Thyroid ectopia
Morphological anomaly
95713
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713
Athyreosis
Morphological anomaly
95719
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719
Thyroid hemiagenesis
Morphological anomaly
95720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720
Thyroid hypoplasia
Morphological anomaly
95714
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714
Primary congenital hypothyroidism without thyroid developmental anomaly
Category
90673
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673
Hypothyroidism due to TSH receptor mutations
Disease
95716
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716
Familial thyroid dyshormonogenesis
Disease
95717
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717
Idiopathic congenital hypothyroidism
Disease
226298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298
Central congenital hypothyroidism
Clinical group
90674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674
Isolated thyroid-stimulating hormone deficiency
Disease
99832
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832
Resistance to thyrotropin-releasing hormone syndrome
Disease
226307
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Disease
238670
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670
Isolated thyrotropin-releasing hormone deficiency
Disease
329235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Disease
177101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177101
Rare adult hypothyroidism
Category
64744
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744
IgG4-related thyroid disease
Clinical subtype
227982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982
Autoimmune polyendocrinopathy type 3
Disease
83601
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83601
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Disease
181399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181399
Rare hyperthyroidism
Category
424
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424
Familial hyperthyroidism due to mutations in TSH receptor
Disease
99819
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819
Familial gestational hyperthyroidism
Disease
525731
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525731
Pediatric-onset Graves disease
Disease
276399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399
Familial multinodular goiter
Disease
101956
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101956
Polyendocrinopathy
Category
1227
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227
Bangstad syndrome
Malformation syndrome
37042
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Disease
100094
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094
Multiple polyglandular tumor
Category
892
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892
Von Hippel-Lindau disease
Disease
1359
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359
Carney complex
Disease
97286
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286
Carney-Stratakis syndrome
Disease
139411
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411
Carney triad
Disease
276161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161
Multiple endocrine neoplasia
Clinical group
652
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652
Multiple endocrine neoplasia type 1
Disease
653
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653
Multiple endocrine neoplasia type 2
Disease
247698
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698
Multiple endocrine neoplasia type 2A
Clinical subtype
247709
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709
Multiple endocrine neoplasia type 2B
Clinical subtype
276152
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152
Multiple endocrine neoplasia type 4
Disease
282196
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282196
Autoimmune polyendocrinopathy
Clinical group
3143
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143
Autoimmune polyendocrinopathy type 2
Disease
3453
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453
Autoimmune polyendocrinopathy type 1
Disease
227982
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982
Autoimmune polyendocrinopathy type 3
Disease
227990
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227990
Autoimmune polyendocrinopathy type 4
Disease
391487
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
Disease
445018
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018
Combined immunodeficiency due to LRBA deficiency
Disease
181384
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181384
Rare hypothalamic or pituitary disease
Category
1672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1672
Diencephalic syndrome
Disease
101957
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101957
Pituitary deficiency
Category
95488
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95488
Non-acquired pituitary hormone deficiency
Category
631
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631
Non-acquired isolated growth hormone deficiency
Disease
629
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629
Short stature due to growth hormone qualitative anomaly
Clinical subtype
231662
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662
Isolated growth hormone deficiency type IA
Clinical subtype
231671
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671
Isolated growth hormone deficiency type IB
Clinical subtype
231679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679
Isolated growth hormone deficiency type II
Clinical subtype
231692
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692
Isolated growth hormone deficiency type III
Clinical subtype
632
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Clinical subtype
67045
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045
X-linked intellectual disability with isolated growth hormone deficiency
Clinical subtype
467
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467
Non-acquired combined pituitary hormone deficiency
Category
95495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95495
Disease associated with non-acquired combined pituitary hormone deficiency
Category
2162
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162
Holoprosencephaly
Malformation syndrome
93925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925
Alobar holoprosencephaly
Clinical subtype
93926
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926
Midline interhemispheric variant of holoprosencephaly
Clinical subtype
220386
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386
Semilobar holoprosencephaly
Clinical subtype
93924
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924
Lobar holoprosencephaly
Clinical subtype
280195
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195
Septopreoptic holoprosencephaly
Clinical subtype
672
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672
Pallister-Hall syndrome
Malformation syndrome
2315
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315
Johanson-Blizzard syndrome
Malformation syndrome
3157
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157
Septo-optic dysplasia spectrum
Malformation syndrome
782
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782
Axenfeld-Rieger syndrome
Malformation syndrome
77298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298
Anophthalmia/microphthalmia-esophageal atresia syndrome
Malformation syndrome
85442
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Disease
157954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954
ANE syndrome
Disease
231720
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Malformation syndrome
293978
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Disease
420584
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Malformation syndrome
178025
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025
Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
Category
90695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695
Non-acquired panhypopituitarism
Disease
95494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494
Combined pituitary hormone deficiencies, genetic forms
Disease
90674
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674
Isolated thyroid-stimulating hormone deficiency
Disease
95496
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496
Pituitary stalk interruption syndrome
Morphological anomaly
174590
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590
Congenital hypogonadotropic hypogonadism
Category
181387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
Category
138
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138
CHARGE syndrome
Malformation syndrome
739
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739
Prader-Willi syndrome
Disease
98754
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Etiological subtype
98793
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793
Prader-Willi syndrome due to paternal 15q11q13 deletion
Etiological subtype
177901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Etiological subtype
177904
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Etiological subtype
177907
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907
Prader-Willi syndrome due to translocation
Etiological subtype
177910
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910
Prader-Willi syndrome due to imprinting mutation
Etiological subtype
2377
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377
Laurence-Moon syndrome
Malformation syndrome
1173
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173
Cerebellar ataxia-hypogonadism syndrome
Disease
1180
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180
Ataxia-hypogonadism-choroidal dystrophy syndrome
Disease
1387
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387
Cataract-intellectual disability-hypogonadism syndrome
Malformation syndrome
2230
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Disease
2235
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Disease
2250
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Disease
2560
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Malformation syndrome
3464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464
Woodhouse-Sakati syndrome
Disease
2326
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326
Kallmann syndrome-heart disease syndrome
Malformation syndrome
110
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110
Bardet-Biedl syndrome
Disease
88637
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Clinical subtype
157954
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954
ANE syndrome
Disease
293967
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Malformation syndrome
398073
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073
Prader-Willi-like syndrome
Clinical group
633028
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028
CPE-related Prader-Willi-like syndrome
Disease
171829
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829
6q16 microdeletion syndrome
Disease
398079
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079
SIM1-related Prader-Willi-like syndrome
Disease
398069
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069
MAGEL2-related Prader-Willi-like syndrome
Disease
1295
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295
Brachytelephalangy-dysmorphism-Kallmann syndrome
Malformation syndrome
453533
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533
Polyendocrine-polyneuropathy syndrome
Disease
181390
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
Category
66628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628
Obesity due to congenital leptin deficiency
Etiological subtype
71528
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528
Obesity due to prohormone convertase I deficiency
Etiological subtype
90695
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695
Non-acquired panhypopituitarism
Disease
95494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494
Combined pituitary hormone deficiencies, genetic forms
Disease
95700
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
Disease
95702
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702
X-linked adrenal hypoplasia congenita
Disease
179494
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494
Obesity due to leptin receptor gene deficiency
Etiological subtype
238666
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666
Isolated congenital hypogonadotropic hypogonadism
Disease
478
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478
Kallmann syndrome
Clinical subtype
432
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432
Normosmic congenital hypogonadotropic hypogonadism
Clinical subtype
52901
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901
Isolated follicle stimulating hormone deficiency
Disease
199296
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296
Congenital isolated ACTH deficiency
Disease
314811
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811
Short stature due to GHSR deficiency
Disease
95502
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95502
Acquired pituitary hormone deficiency
Category
95503
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95503
Pituitary hormone deficiency of tumoral origin
Category
2495
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495
Meningioma
Disease
2086
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086
Optic pathway glioma
Disease
178
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178
Chordoma
Disease
54595
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595
Craniopharyngioma
Disease
91350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91350
Pituitary deficiency due to Rathke cleft cysts
Disease
91351
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351
Pituitary dermoid and epidermoid cysts
Disease
91352
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352
Germinoma of the central nervous system
Clinical subtype
99408
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99408
Pituitary adenoma
Clinical group
91349
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349
Non-functioning pituitary adenoma
Disease
314786
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314786
Silent pituitary adenoma
Histopathological subtype
314790
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314790
Null pituitary adenoma
Histopathological subtype
314753
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314753
Functioning pituitary adenoma
Clinical group
2965
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965
Prolactinoma
Disease
91347
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347
TSH-secreting pituitary adenoma
Disease
91348
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91348
Functioning gonadotropic adenoma
Disease
96253
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253
Cushing disease
Disease
96256
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96256
Somatotropic adenoma
Clinical group
963
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963
Acromegaly
Disease
99725
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725
Pituitary gigantism
Disease
199244
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199244
Nelson syndrome
Clinical syndrome
314759
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314759
Mixed functioning pituitary adenoma
Category
314769
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314769
Somatomammotropinoma
Disease
314777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777
Familial isolated pituitary adenoma
Disease
95505
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95505
Pituitary hormone deficiency of meningeal origin
Category
2356
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356
Arachnoid cyst
Morphological anomaly
91354
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91354
Pituitary deficiency due to empty sella turcica syndrome
Disease
95506
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95506
Primary hypophysitis
Clinical group
95512
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95512
Adenohypophysitis
Disease
95513
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95513
Panhypophysitis
Disease
238305
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238305
Infundibulo-neurohypophysitis
Disease
95611
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95611
Pituitary hormone deficiency of vascular origin
Category
91355
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91355
Sheehan syndrome
Malformation syndrome
95613
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95613
Pituitary apoplexy
Disease
95617
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95617
Pituitary hormone deficiency secondary to a granulomatous disease
Category
797
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797
Sarcoidosis
Disease
645854
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645854
Multifocal tuberculosis
Disease
95618
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95618
Pituitary hormone deficiency secondary to storage disease
Category
848
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848
Beta-thalassemia
Disease
231222
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222
Beta-thalassemia intermedia
Clinical subtype
231214
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214
Beta-thalassemia major
Clinical subtype
231226
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226
Dominant beta-thalassemia
Clinical subtype
93616
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616
Hemoglobin H disease
Clinical subtype
95619
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95619
Post-traumatic pituitary deficiency
Disease
199299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299
Late-onset isolated ACTH deficiency
Disease
641350
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641350
Immunotherapy induced hypophysitis
Disease
178029
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029
Central diabetes insipidus
Disease
30925
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925
Hereditary central diabetes insipidus
Clinical subtype
95626
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95626
Acquired central diabetes insipidus
Clinical subtype
300373
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373
X-linked acrogigantism
Disease
314621
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621
Duplication of the pituitary gland
Morphological anomaly
397685
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685
Familial hyperprolactinemia
Disease
443101
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443101
Hypothalamic adipsic hypernatraemia syndrome
Disease
525738
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525738
Prepubertal anorexia nervosa
Disease
181441
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181441
Rare disorder with hypergonadotropic hypogonadism
Category
3044
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Malformation syndrome
648
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648
Noonan syndrome
Malformation syndrome
2233
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Disease
606
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606
Proximal myotonic myopathy
Disease
43
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43
X-linked adrenoleukodystrophy
Disease
139396
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396
X-linked cerebral adrenoleukodystrophy
Clinical subtype
139399
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399
Adrenomyeloneuropathy
Clinical subtype
2229
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Malformation syndrome
2232
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Disease
2234
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Malformation syndrome
2410
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410
Hypergonadotropic hypogonadism-cataract syndrome
Malformation syndrome
2558
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558
Mikati-Najjar-Sahli syndrome
Malformation syndrome
3464
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464
Woodhouse-Sakati syndrome
Disease
2183
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183
Hydrocephalus-obesity-hypogonadism syndrome
Malformation syndrome
90646
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646
Deafness-hypogonadism syndrome
Malformation syndrome
163971
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971
X-linked intellectual disability, Cilliers type
Disease
163976
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976
X-linked intellectual disability, Van Esch type
Malformation syndrome
280679
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Disease
293964
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Disease
443095
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443095
Hyperinsulinemic hypoglycaemia
Category
276525
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276525
Familial hyperinsulinism
Category
657
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657
Congenital isolated hyperinsulinism
Clinical group
165985
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985
Diazoxide-sensitive diffuse hyperinsulinism
Clinical group
35878
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878
Hyperinsulinism-hyperammonemia syndrome
Disease
71212
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Disease
79299
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299
Congenital glucokinase-related hyperinsulinism
Disease
165991
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991
Exercise-induced hyperinsulinism
Disease
263455
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455
Congenital hyperinsulinism due to HNF4A deficiency
Disease
276556
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556
Hyperinsulinism due to UCP2 deficiency
Disease
276575
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Disease
276580
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Disease
324575
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575
Hyperinsulinism due to HNF1A deficiency
Disease
276585
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585
Diazoxide-resistant hyperinsulinism
Clinical group
79298
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298
Diazoxide-resistant focal hyperinsulinism
Clinical group
276598
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Disease
276603
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Disease
165988
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988
Diazoxide-resistant diffuse hyperinsulinism
Clinical group
79643
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Disease
79644
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Disease
263458
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458
Hyperinsulinism due to INSR deficiency
Disease
276608
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608
Non-insulinoma pancreatogenous hypoglycemia syndrome
Disease
544628
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Disease
411593
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411593
Insulin autoimmune syndrome
Disease