Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 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 652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 Multiple endocrine neoplasia type 1 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 652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 Multiple endocrine neoplasia type 1 Disease 143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=143 Parathyroid carcinoma Disease 300493 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300493 Sagliker syndrome Particular clinical situation in a disease or syndrome 289098 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098 Disorders of vitamin D metabolism Category 437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 Hypophosphatemic rickets Clinical group 1652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 Dent disease Disease 93622 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 Dent disease type 1 Clinical subtype 93623 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 Dent disease type 2 Clinical subtype 213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 Cystinosis Disease 411634 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 Juvenile nephropathic cystinosis Clinical subtype 411641 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 Ocular cystinosis Clinical subtype 411629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 Infantile nephropathic cystinosis 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 Schaaf-Yang 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 684247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684247 Isolated growth hormone deficiency type IV 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 Schaaf-Yang 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 Rare 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 Rare 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 syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome 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 syndrome 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 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 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 syndrome 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 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 syndrome 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 X-linked alpha-thalassemia-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 syndrome Etiological subtype 99228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Mosaic monosomy X syndrome 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 syndrome 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 696289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 Congenital generalized lipodystrophy type 2 Clinical subtype 696242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 PPARG-associated congenital generalized lipodystrophy Clinical subtype 696206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 Congenital generalized lipodystrophy type 3 Clinical subtype 696189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 Congenital generalized lipodystrophy type 1 Clinical subtype 228429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 Congenital generalized lipodystrophy type 4 Clinical subtype 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 Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome Disease 435628 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 Keppen-Lubinsky syndrome Malformation syndrome 686999 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome Disease 363649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome Disease 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 Donohue syndrome Malformation syndrome 528 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 Congenital generalized lipodystrophy Disease 696289 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 Congenital generalized lipodystrophy type 2 Clinical subtype 696242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 PPARG-associated congenital generalized lipodystrophy Clinical subtype 696206 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 Congenital generalized lipodystrophy type 3 Clinical subtype 696189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 Congenital generalized lipodystrophy type 1 Clinical subtype 228429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 Congenital generalized lipodystrophy type 4 Clinical subtype 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 Autosomal dominant 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 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 Familial Hyperalphalipoproteinemia Biological anomaly 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 140905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency Disease 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 688649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688649 Isolated adrenal medullary hyperplasia Disease 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 Isolated 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 686495 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome Disease 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 STAT1-related 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 Syndromic autoimmune enteropathy 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 684247 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684247 Isolated growth hormone deficiency type IV 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 Schaaf-Yang 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 Clinical group 715143 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715143 Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene Disease 231222 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 Beta-thalassemia intermedia Disease 231214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 Beta-thalassemia major Disease 93616 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 Hemoglobin H disease Disease 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 Arginine vasopressin deficiency Disease 30925 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925 Hereditary arginine vasopressin deficiency Clinical subtype 95626 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95626 Acquired arginine vasopressin deficiency Clinical subtype 314621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621 Duplication of the pituitary gland Morphological anomaly 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 689401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689401 Acquired hypothalamic obesity Disease 715120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715120 Hyperpituitarism Category 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 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 314769 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314769 Somatomammotropinoma Disease 300373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373 X-linked acrogigantism Disease 397685 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 Familial hyperprolactinemia Disease 314777 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314777 Familial isolated pituitary adenoma Disease 963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963 Acromegaly 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