Orphanet classification: Rare endocrine disease (ORPHA:97978)
Disorder type: Category
Subcategories and diseases:
Name: Estrogen resistance syndrome
OrphaCode: 785
DisorderType: Disease
Name: Neuroendocrine neoplasm
OrphaCode: 877
DisorderType: Category
Children: Name: Carcinoid syndrome
OrphaCode: 100093
DisorderType: Clinical syndrome
Name: Gastroenteropancreatic neuroendocrine neoplasm
OrphaCode: 100092
DisorderType: Category
Children: Name: Neuroendocrine neoplasm of pancreas
OrphaCode: 506052
DisorderType: Category
Children: Name: Neuroendocrine tumor of pancreas
OrphaCode: 97253
DisorderType: Category
Children: Name: Functioning neuroendocrine tumor of pancreas
OrphaCode: 506060
DisorderType: Category
Children: Name: Zollinger-Ellison syndrome
OrphaCode: 913
DisorderType: Disease
Name: GRFoma
OrphaCode: 97261
DisorderType: Disease
Name: PPoma
OrphaCode: 97278
DisorderType: Disease
Name: Insulinoma
OrphaCode: 97279
DisorderType: Disease
Name: Glucagonoma
OrphaCode: 97280
DisorderType: Disease
Name: VIPoma
OrphaCode: 97282
DisorderType: Disease
Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Cushing syndrome due to ectopic ACTH secretion
OrphaCode: 99889
DisorderType: Disease
Name: Serotonin-producing neuroendocrine tumor of pancreas
OrphaCode: 506090
DisorderType: Disease
Name: Non-functioning neuroendocrine tumor of pancreas
OrphaCode: 506075
DisorderType: Disease
Name: Neuroendocrine carcinoma of pancreas
OrphaCode: 506098
DisorderType: Disease
Name: Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
OrphaCode: 506112
DisorderType: Disease
Name: Gastroenteric neuroendocrine neoplasm
OrphaCode: 481508
DisorderType: Category
Children: Name: Neuroendocrine tumor of stomach
OrphaCode: 100075
DisorderType: Disease
Name: Neuroendocrine neoplasm of appendix
OrphaCode: 100079
DisorderType: Disease
Children: Name: Classic neuroendocrine tumor of appendix
OrphaCode: 329977
DisorderType: Clinical subtype
Name: Goblet cell carcinoma
OrphaCode: 329984
DisorderType: Clinical subtype
Name: Neuroendocrine tumor of the colon
OrphaCode: 100080
DisorderType: Disease
Name: Neuroendocrine tumor of the rectum
OrphaCode: 100081
DisorderType: Disease
Name: Neuroendocrine tumor of anal canal
OrphaCode: 100082
DisorderType: Disease
Name: Neuroendocrine tumor of the small intestine
OrphaCode: 423975
DisorderType: Category
Children: Name: Ileal neuroendocrine tumor
OrphaCode: 100078
DisorderType: Disease
Name: Duodenal neuroendocrine tumor
OrphaCode: 100076
DisorderType: Category
Children: Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Zollinger-Ellison syndrome
OrphaCode: 913
DisorderType: Disease
Name: Jejunal neuroendocrine tumor
OrphaCode: 100077
DisorderType: Category
Children: Name: Somatostatinoma
OrphaCode: 97283
DisorderType: Disease
Name: Neuroendocrine neoplasm of esophagus
OrphaCode: 506136
DisorderType: Disease
Name: Neuroendocrine tumor with other location
OrphaCode: 100101
DisorderType: Category
Children: Name: Cutaneous neuroendocrine carcinoma
OrphaCode: 79140
DisorderType: Disease
Name: Bronchial neuroendocrine tumor
OrphaCode: 97287
DisorderType: Disease
Name: Laryngeal neuroendocrine tumor
OrphaCode: 100083
DisorderType: Disease
Name: Middle ear neuroendocrine tumor
OrphaCode: 100084
DisorderType: Disease
Name: Primary hepatic neuroendocrine carcinoma
OrphaCode: 100085
DisorderType: Disease
Name: Gallbladder neuroendocrine tumor
OrphaCode: 100086
DisorderType: Disease
Name: High-grade neuroendocrine carcinoma of the corpus uteri
OrphaCode: 213731
DisorderType: Disease
Name: Thymic neuroendocrine tumor
OrphaCode: 97289
DisorderType: Disease
Name: High-grade neuroendocrine carcinoma of the cervix uteri
OrphaCode: 213777
DisorderType: Disease
Name: Thymic neuroendocrine carcinoma
OrphaCode: 99869
DisorderType: Disease
Children: Name: Well-differentiated thymic neuroendocrine carcinoma
OrphaCode: 263331
DisorderType: Histopathological subtype
Name: Moderately-differentiated thymic neuroendocrine carcinoma
OrphaCode: 263335
DisorderType: Histopathological subtype
Name: Poorly differentiated thymic neuroendocrine carcinoma
OrphaCode: 263339
DisorderType: Histopathological subtype
Name: Small cell carcinoma of the bladder
OrphaCode: 284400
DisorderType: Disease
Name: Chordoma
OrphaCode: 178
DisorderType: Disease
Name: Rare parathyroid disease and phosphocalcic metabolism anomaly
OrphaCode: 68415
DisorderType: Category
Children: Name: Familial hypocalciuric hypercalcemia
OrphaCode: 405
DisorderType: Disease
Children: Name: Familial hypocalciuric hypercalcemia type 1
OrphaCode: 93372
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 2
OrphaCode: 101049
DisorderType: Etiological subtype
Name: Familial hypocalciuric hypercalcemia type 3
OrphaCode: 101050
DisorderType: Etiological subtype
Name: Familial tumoral calcinosis
OrphaCode: 53715
DisorderType: Disease
Children: Name: Familial normophosphatemic tumoral calcinosis
OrphaCode: 306658
DisorderType: Clinical subtype
Name: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
OrphaCode: 306661
DisorderType: Clinical subtype
Name: Rare parathyroid tumor
OrphaCode: 100090
DisorderType: Category
Children: Name: Familial primary hyperparathyroidism
OrphaCode: 2207
DisorderType: Clinical group
Children: Name: Familial isolated hyperparathyroidism
OrphaCode: 99879
DisorderType: Disease
Name: Hyperparathyroidism-jaw tumor syndrome
OrphaCode: 99880
DisorderType: Disease
Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Parathyroid carcinoma
OrphaCode: 143
DisorderType: Disease
Name: Rare hypoparathyroidism
OrphaCode: 181405
DisorderType: Category
Children: Name: Familial isolated hypoparathyroidism
OrphaCode: 2238
DisorderType: Disease
Children: Name: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
OrphaCode: 2239
DisorderType: Clinical subtype
Name: Autosomal dominant hypocalcemia
OrphaCode: 428
DisorderType: Clinical subtype
Name: Familial isolated hypoparathyroidism due to impaired PTH secretion
OrphaCode: 189466
DisorderType: Clinical subtype
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Autoimmune hypoparathyroidism
OrphaCode: 36913
DisorderType: Disease
Name: Pseudohypoparathyroidism
OrphaCode: 97593
DisorderType: Category
Children: Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Pseudohypoparathyroidism without Albright hereditary osteodystrophy
OrphaCode: 457062
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1B
OrphaCode: 94089
DisorderType: Disease
Name: Pseudohypoparathyroidism type 2
OrphaCode: 94090
DisorderType: Disease
Name: Secondary hypoparathyroidism due to impaired parathormon secretion
OrphaCode: 140286
DisorderType: Disease
Name: Syndrome with hypoparathyroidism
OrphaCode: 181402
DisorderType: Category
Children: Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Kearns-Sayre syndrome
OrphaCode: 480
DisorderType: Disease
Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Pearson syndrome
OrphaCode: 699
DisorderType: Disease
Name: Dahlberg-Borer-Newcomer syndrome
OrphaCode: 1563
DisorderType: Malformation syndrome
Name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
OrphaCode: 2237
DisorderType: Malformation syndrome
Name: Sanjad-Sakati syndrome
OrphaCode: 2323
DisorderType: Malformation syndrome
Name: Kenny-Caffey syndrome
OrphaCode: 2333
DisorderType: Malformation syndrome
Children: Name: Autosomal recessive Kenny-Caffey syndrome
OrphaCode: 93324
DisorderType: Etiological subtype
Name: Autosomal dominant Kenny-Caffey syndrome
OrphaCode: 93325
DisorderType: Etiological subtype
Name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
OrphaCode: 5
DisorderType: Disease
Name: Rare hyperparathyroidism
OrphaCode: 181408
DisorderType: Category
Children: Name: Neonatal severe primary hyperparathyroidism
OrphaCode: 417
DisorderType: Disease
Name: Familial primary hyperparathyroidism
OrphaCode: 2207
DisorderType: Clinical group
Children: Name: Familial isolated hyperparathyroidism
OrphaCode: 99879
DisorderType: Disease
Name: Hyperparathyroidism-jaw tumor syndrome
OrphaCode: 99880
DisorderType: Disease
Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Parathyroid carcinoma
OrphaCode: 143
DisorderType: Disease
Name: Disorders of vitamin D metabolism
OrphaCode: 289098
DisorderType: Category
Children: Name: Hypophosphatemic rickets
OrphaCode: 437
DisorderType: Clinical group
Children: Name: Dent disease
OrphaCode: 1652
DisorderType: Disease
Children: Name: Dent disease type 1
OrphaCode: 93622
DisorderType: Clinical subtype
Name: Dent disease type 2
OrphaCode: 93623
DisorderType: Clinical subtype
Name: Cystinosis
OrphaCode: 213
DisorderType: Disease
Children: Name: Juvenile nephropathic cystinosis
OrphaCode: 411634
DisorderType: Clinical subtype
Name: Ocular cystinosis
OrphaCode: 411641
DisorderType: Clinical subtype
Name: Infantile nephropathic cystinosis
OrphaCode: 411629
DisorderType: Clinical subtype
Name: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
OrphaCode: 244305
DisorderType: Disease
Name: X-linked hypophosphatemia
OrphaCode: 89936
DisorderType: Disease
Name: Autosomal dominant hypophosphatemic rickets
OrphaCode: 89937
DisorderType: Disease
Name: Hereditary hypophosphatemic rickets with hypercalciuria
OrphaCode: 157215
DisorderType: Disease
Name: Autosomal recessive hypophosphatemic rickets
OrphaCode: 289176
DisorderType: Disease
Name: Hypocalcemic rickets
OrphaCode: 289103
DisorderType: Clinical group
Children: Name: Hypocalcemic vitamin D-resistant rickets
OrphaCode: 93160
DisorderType: Disease
Name: Hypocalcemic vitamin D-dependent rickets
OrphaCode: 289157
DisorderType: Disease
Name: Autosomal recessive infantile hypercalcemia
OrphaCode: 300547
DisorderType: Disease
Name: Oncogenic osteomalacia
OrphaCode: 352540
DisorderType: Disease
Name: Genetic obesity
OrphaCode: 77828
DisorderType: Category
Children: Name: Genetic non-syndromic obesity
OrphaCode: 98267
DisorderType: Disease
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to congenital leptin resistance
OrphaCode: 179490
DisorderType: Etiological subtype
Children: Name: Obesity due to pro-opiomelanocortin deficiency
OrphaCode: 71526
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Obesity due to melanocortin 4 receptor deficiency
OrphaCode: 71529
DisorderType: Etiological subtype
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
OrphaCode: 329249
DisorderType: Etiological subtype
Name: Obesity due to SIM1 deficiency
OrphaCode: 369873
DisorderType: Etiological subtype
Name: Obesity due to CEP19 deficiency
OrphaCode: 397615
DisorderType: Etiological subtype
Name: Syndromic obesity
OrphaCode: 240371
DisorderType: Category
Children: Name: Smith-Magenis syndrome
OrphaCode: 819
DisorderType: Malformation syndrome
Name: Fragile X syndrome
OrphaCode: 908
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome
OrphaCode: 783
DisorderType: Malformation syndrome
Children: Name: Rubinstein-Taybi syndrome due to CREBBP mutations
OrphaCode: 353277
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
OrphaCode: 353281
DisorderType: Etiological subtype
Name: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
OrphaCode: 353284
DisorderType: Etiological subtype
Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Coffin-Lowry syndrome
OrphaCode: 192
DisorderType: Malformation syndrome
Name: Cohen syndrome
OrphaCode: 193
DisorderType: Malformation syndrome
Name: Symptomatic form of Coffin-Lowry syndrome in female carriers
OrphaCode: 276630
DisorderType: Malformation syndrome
Name: Pseudohypoparathyroidism with Albright hereditary osteodystrophy
OrphaCode: 457059
DisorderType: Clinical group
Children: Name: Pseudohypoparathyroidism type 1A
OrphaCode: 79443
DisorderType: Disease
Name: Pseudohypoparathyroidism type 1C
OrphaCode: 79444
DisorderType: Disease
Name: Pseudopseudohypoparathyroidism
OrphaCode: 79445
DisorderType: Disease
Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: Borjeson-Forssman-Lehmann syndrome
OrphaCode: 127
DisorderType: Malformation syndrome
Name: Xq21 microdeletion syndrome
OrphaCode: 1435
DisorderType: Malformation syndrome
Name: MOMO syndrome
OrphaCode: 2563
DisorderType: Malformation syndrome
Name: Wilson-Turner syndrome
OrphaCode: 3459
DisorderType: Malformation syndrome
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Microcephalic osteodysplastic primordial dwarfism type II
OrphaCode: 2637
DisorderType: Malformation syndrome
Name: Carpenter syndrome
OrphaCode: 65759
DisorderType: Malformation syndrome
Name: MORM syndrome
OrphaCode: 75858
DisorderType: Disease
Name: MEHMO syndrome
OrphaCode: 85282
DisorderType: Malformation syndrome
Name: Temple syndrome
OrphaCode: 254516
DisorderType: Malformation syndrome
Children: Name: Temple syndrome due to maternal uniparental disomy of chromosome 14
OrphaCode: 96184
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 microdeletion
OrphaCode: 254525
DisorderType: Etiological subtype
Name: Temple syndrome due to paternal 14q32.2 hypomethylation
OrphaCode: 254531
DisorderType: Etiological subtype
Name: Distal 16p11.2 microdeletion syndrome
OrphaCode: 261222
DisorderType: Malformation syndrome
Name: Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
OrphaCode: 293987
DisorderType: Disease
Name: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
OrphaCode: 352530
DisorderType: Disease
Name: Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
OrphaCode: 363741
DisorderType: Disease
Name: Intellectual disability-seizures-macrocephaly-obesity syndrome
OrphaCode: 369950
DisorderType: Disease
Name: Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
OrphaCode: 397973
DisorderType: Disease
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
OrphaCode: 444077
DisorderType: Malformation syndrome
Name: Early-onset obesity-hyperphagia-severe developmental delay syndrome
OrphaCode: 99704
DisorderType: Disease
Name: Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
OrphaCode: 521390
DisorderType: Malformation syndrome
Name: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
OrphaCode: 589905
DisorderType: Disease
Name: Short stature-brachydactyly-obesity-global developmental delay syndrome
OrphaCode: 464288
DisorderType: Malformation syndrome
Name: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
OrphaCode: 652487
DisorderType: Malformation syndrome
Name: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
OrphaCode: 620363
DisorderType: Disease
Name: Clark-Baraitser syndrome
OrphaCode: 600731
DisorderType: Malformation syndrome
Name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
OrphaCode: 647799
DisorderType: Disease
Name: Rare endocrine growth disease
OrphaCode: 90692
DisorderType: Category
Children: Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Congenital adrenal hyperplasia
OrphaCode: 418
DisorderType: Clinical group
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Congenital hypothyroidism
OrphaCode: 442
DisorderType: Category
Children: Name: Transient congenital hypothyroidism
OrphaCode: 178045
DisorderType: Clinical group
Children: Name: Transient congenital hypothyroidism due to maternal factor
OrphaCode: 238696
DisorderType: Category
Children: Name: Fetal iodine syndrome
OrphaCode: 1910
DisorderType: Malformation syndrome
Name: Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
OrphaCode: 95715
DisorderType: Disease
Name: Congenital hypothyroidism due to maternal intake of antithyroid drugs
OrphaCode: 226313
DisorderType: Disease
Name: Transient congenital hypothyroidism due to neonatal factor
OrphaCode: 238699
DisorderType: Category
Children: Name: Genetic transient congenital hypothyroidism
OrphaCode: 226316
DisorderType: Disease
Name: Neonatal iodine exposure
OrphaCode: 238688
DisorderType: Disease
Name: Permanent congenital hypothyroidism
OrphaCode: 226292
DisorderType: Category
Children: Name: Syndromic hypothyroidism
OrphaCode: 177107
DisorderType: Category
Children: Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Jung syndrome
OrphaCode: 2321
DisorderType: Malformation syndrome
Name: Pendred syndrome
OrphaCode: 705
DisorderType: Malformation syndrome
Name: Bamforth-Lazarus syndrome
OrphaCode: 1226
DisorderType: Malformation syndrome
Name: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
OrphaCode: 1882
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Muscular pseudohypertrophy-hypothyroidism syndrome
OrphaCode: 2349
DisorderType: Disease
Name: Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
OrphaCode: 88643
DisorderType: Disease
Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Primary congenital hypothyroidism
OrphaCode: 226295
DisorderType: Clinical group
Children: Name: Congenital hypothyroidism due to developmental anomaly
OrphaCode: 95711
DisorderType: Category
Children: Name: Thyroid ectopia
OrphaCode: 95712
DisorderType: Morphological anomaly
Name: Athyreosis
OrphaCode: 95713
DisorderType: Morphological anomaly
Name: Thyroid hemiagenesis
OrphaCode: 95719
DisorderType: Morphological anomaly
Name: Thyroid hypoplasia
OrphaCode: 95720
DisorderType: Morphological anomaly
Name: Primary congenital hypothyroidism without thyroid developmental anomaly
OrphaCode: 95714
DisorderType: Category
Children: Name: Hypothyroidism due to TSH receptor mutations
OrphaCode: 90673
DisorderType: Disease
Name: Familial thyroid dyshormonogenesis
OrphaCode: 95716
DisorderType: Disease
Name: Idiopathic congenital hypothyroidism
OrphaCode: 95717
DisorderType: Disease
Name: Central congenital hypothyroidism
OrphaCode: 226298
DisorderType: Clinical group
Children: Name: Isolated thyroid-stimulating hormone deficiency
OrphaCode: 90674
DisorderType: Disease
Name: Resistance to thyrotropin-releasing hormone syndrome
OrphaCode: 99832
DisorderType: Disease
Name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
OrphaCode: 226307
DisorderType: Disease
Name: Isolated thyrotropin-releasing hormone deficiency
OrphaCode: 238670
DisorderType: Disease
Name: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OrphaCode: 329235
DisorderType: Disease
Name: Craniopharyngioma
OrphaCode: 54595
DisorderType: Disease
Name: Non-acquired pituitary hormone deficiency
OrphaCode: 95488
DisorderType: Category
Children: Name: Non-acquired isolated growth hormone deficiency
OrphaCode: 631
DisorderType: Disease
Children: Name: Short stature due to growth hormone qualitative anomaly
OrphaCode: 629
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type IA
OrphaCode: 231662
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type IB
OrphaCode: 231671
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type II
OrphaCode: 231679
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type III
OrphaCode: 231692
DisorderType: Clinical subtype
Children: Name: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
OrphaCode: 632
DisorderType: Clinical subtype
Name: X-linked intellectual disability with isolated growth hormone deficiency
OrphaCode: 67045
DisorderType: Clinical subtype
Name: Non-acquired combined pituitary hormone deficiency
OrphaCode: 467
DisorderType: Category
Children: Name: Disease associated with non-acquired combined pituitary hormone deficiency
OrphaCode: 95495
DisorderType: Category
Children: Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Short stature-pituitary and cerebellar defects-small sella turcica syndrome
OrphaCode: 85442
DisorderType: Disease
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OrphaCode: 231720
DisorderType: Malformation syndrome
Name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
OrphaCode: 293978
DisorderType: Disease
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
OrphaCode: 178025
DisorderType: Category
Children: Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Isolated thyroid-stimulating hormone deficiency
OrphaCode: 90674
DisorderType: Disease
Name: Pituitary stalk interruption syndrome
OrphaCode: 95496
DisorderType: Morphological anomaly
Name: Congenital hypogonadotropic hypogonadism
OrphaCode: 174590
DisorderType: Category
Children: Name: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
OrphaCode: 181387
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
OrphaCode: 2230
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
OrphaCode: 2560
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Congenital isolated ACTH deficiency
OrphaCode: 199296
DisorderType: Disease
Name: Short stature due to GHSR deficiency
OrphaCode: 314811
DisorderType: Disease
Name: Rare precocious puberty
OrphaCode: 95708
DisorderType: Category
Children: Name: Rare central precocious puberty
OrphaCode: 650063
DisorderType: Clinical group
Children: Name: Central precocious puberty in male
OrphaCode: 649929
DisorderType: Clinical group
Children: Name: Primary central precocious puberty in male
OrphaCode: 650087
DisorderType: Disease
Children: Name: Genetic central precocious puberty in male
OrphaCode: 650097
DisorderType: Clinical subtype
Name: Non-genetic central precocious puberty in male
OrphaCode: 650102
DisorderType: Clinical subtype
Name: Secondary central precocious puberty in male
OrphaCode: 650092
DisorderType: Disease
Name: Rare central precocious puberty in female
OrphaCode: 650070
DisorderType: Clinical group
Children: Name: Genetic central precocious puberty in female
OrphaCode: 650077
DisorderType: Disease
Name: Secondary central precocious puberty in female
OrphaCode: 650082
DisorderType: Disease
Name: Rare peripheral precocious puberty
OrphaCode: 178040
DisorderType: Category
Children: Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Familial peripheral male-limited precocious puberty
OrphaCode: 3000
DisorderType: Disease
Name: Aromatase excess syndrome
OrphaCode: 178345
DisorderType: Disease
Name: Rare acquired premature ovarian failure
OrphaCode: 95709
DisorderType: Category
Children: Name: Autoimmune polyendocrinopathy type 2
OrphaCode: 3143
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Rare non-acquired premature ovarian failure
OrphaCode: 95710
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: Ataxia-telangiectasia
OrphaCode: 100
DisorderType: Disease
Name: Tetrasomy X
OrphaCode: 9
DisorderType: Malformation syndrome
Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: Trisomy X
OrphaCode: 3375
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: Osteosclerosis-ichthyosis-premature ovarian failure syndrome
OrphaCode: 75325
DisorderType: Disease
Name: Classic galactosemia
OrphaCode: 79239
DisorderType: Disease
Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: X small rings
OrphaCode: 96201
DisorderType: Malformation syndrome
Name: Microcephalic primordial dwarfism-insulin resistance syndrome
OrphaCode: 436182
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: Satoyoshi syndrome
OrphaCode: 3130
DisorderType: Disease
Name: Symptomatic form of fragile X syndrome in female carriers
OrphaCode: 449291
DisorderType: Disease
Name: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
OrphaCode: 572354
DisorderType: Clinical subtype
Name: Fragile X-associated primary ovarian insufficiency
OrphaCode: 642691
DisorderType: Disease
Name: Growth hormone insensitivity syndrome
OrphaCode: 181393
DisorderType: Category
Children: Name: Laron syndrome
OrphaCode: 633
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor type 1 deficiency
OrphaCode: 73272
DisorderType: Disease
Name: Growth delay due to insulin-like growth factor I resistance
OrphaCode: 73273
DisorderType: Disease
Name: Short stature due to primary acid-labile subunit deficiency
OrphaCode: 140941
DisorderType: Disease
Name: Laron syndrome with immunodeficiency
OrphaCode: 220465
DisorderType: Disease
Name: Short stature due to partial GHR deficiency
OrphaCode: 314802
DisorderType: Disease
Name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
OrphaCode: 436174
DisorderType: Disease
Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Difference of sex development
OrphaCode: 90771
DisorderType: Category
Children: Name: 46,XX difference of sex development
OrphaCode: 2982
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by androgens excess
OrphaCode: 98078
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by fetal androgens excess
OrphaCode: 90776
DisorderType: Category
Children: Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XX difference of sex development induced by maternal-derived androgen
OrphaCode: 91144
DisorderType: Category
Children: Name: 46,XX difference of sex development induced by endogenous maternal-derived androgen
OrphaCode: 325093
DisorderType: Clinical group
Name: 46,XX difference of sex development induced by exogenous maternal-derived androgen
OrphaCode: 325099
DisorderType: Clinical group
Name: 46,XX difference of sex development induced by fetoplacental androgens excess
OrphaCode: 325061
DisorderType: Category
Children: Name: Aromatase deficiency
OrphaCode: 91
DisorderType: Disease
Name: 46,XX disorder of gonadal development
OrphaCode: 325055
DisorderType: Category
Children: Name: 46,XX gonadal dysgenesis
OrphaCode: 243
DisorderType: Malformation syndrome
Name: 46,XX ovotesticular difference of sex development
OrphaCode: 2138
DisorderType: Malformation syndrome
Name: 46,XX testicular difference of sex development
OrphaCode: 393
DisorderType: Malformation syndrome
Name: 46,XX ovarian dysgenesis-short stature syndrome
OrphaCode: 444048
DisorderType: Disease
Name: Syndrome with 46,XX difference of sex development
OrphaCode: 325109
DisorderType: Category
Children: Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Perrault syndrome
OrphaCode: 2855
DisorderType: Disease
Children: Name: Perrault syndrome type 1
OrphaCode: 642945
DisorderType: Clinical subtype
Name: Perrault syndrome type 2
OrphaCode: 642976
DisorderType: Clinical subtype
Name: 46,XX difference of sex development-anorectal anomalies syndrome
OrphaCode: 2973
DisorderType: Malformation syndrome
Name: 46,XX difference of sex development-skeletal anomalies syndrome
OrphaCode: 2975
DisorderType: Malformation syndrome
Name: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
OrphaCode: 85112
DisorderType: Disease
Name: Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
OrphaCode: 137631
DisorderType: Disease
Name: SERKAL syndrome
OrphaCode: 139466
DisorderType: Malformation syndrome
Name: Müllerian aplasia and hyperandrogenism
OrphaCode: 247768
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development
OrphaCode: 98085
DisorderType: Category
Children: Name: Penile agenesis
OrphaCode: 49
DisorderType: Morphological anomaly
Name: Syndrome with 46,XY difference of sex development
OrphaCode: 98087
DisorderType: Category
Children: Name: WAGR syndrome
OrphaCode: 893
DisorderType: Malformation syndrome
Name: Distal deletion 9p
OrphaCode: 1642
DisorderType: Malformation syndrome
Name: XY type gonadal dysgenesis-associated anomalies syndrome
OrphaCode: 1770
DisorderType: Malformation syndrome
Name: Difference of sex development-intellectual disability syndrome
OrphaCode: 2983
DisorderType: Disease
Name: Chondrodysplasia-difference of sex development syndrome
OrphaCode: 1422
DisorderType: Malformation syndrome
Name: X-linked alpha-thalassemia-intellectual disability syndrome
OrphaCode: 847
DisorderType: Malformation syndrome
Name: Campomelic dysplasia
OrphaCode: 140
DisorderType: Malformation syndrome
Name: PAGOD syndrome
OrphaCode: 991
DisorderType: Malformation syndrome
Name: Dysmorphism-short stature-deafness-difference of sex development syndrome
OrphaCode: 2282
DisorderType: Malformation syndrome
Name: Meacham syndrome
OrphaCode: 3097
DisorderType: Malformation syndrome
Name: Denys-Drash syndrome
OrphaCode: 220
DisorderType: Disease
Name: Frasier syndrome
OrphaCode: 347
DisorderType: Disease
Name: X-linked lissencephaly with abnormal genitalia
OrphaCode: 452
DisorderType: Malformation syndrome
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
OrphaCode: 168563
DisorderType: Malformation syndrome
Name: Sudden infant death-dysgenesis of the testes syndrome
OrphaCode: 168593
DisorderType: Malformation syndrome
Name: X-linked myotubular myopathy-abnormal genitalia syndrome
OrphaCode: 456328
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: 46,XY disorder of gonadal development
OrphaCode: 325118
DisorderType: Category
Children: Name: 46,XY complete gonadal dysgenesis
OrphaCode: 242
DisorderType: Malformation syndrome
Name: Testicular regression syndrome
OrphaCode: 983
DisorderType: Morphological anomaly
Name: 46,XY partial gonadal dysgenesis
OrphaCode: 251510
DisorderType: Malformation syndrome
Name: Testicular agenesis
OrphaCode: 325124
DisorderType: Morphological anomaly
Name: 46,XY ovotesticular difference of sex development
OrphaCode: 325345
DisorderType: Disease
Name: 46,XY difference of sex development of endocrine origin
OrphaCode: 325351
DisorderType: Category
Children: Name: Androgen insensitivity syndrome
OrphaCode: 754
DisorderType: Clinical group
Children: Name: Partial androgen insensitivity syndrome
OrphaCode: 90797
DisorderType: Disease
Name: Complete androgen insensitivity syndrome
OrphaCode: 99429
DisorderType: Disease
Name: Persistent Müllerian duct syndrome
OrphaCode: 2856
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to impaired androgen production
OrphaCode: 325357
DisorderType: Category
Children: Name: Leydig cell hypoplasia
OrphaCode: 755
DisorderType: Disease
Children: Name: Leydig cell hypoplasia due to complete LH resistance
OrphaCode: 96265
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to partial LH resistance
OrphaCode: 96266
DisorderType: Clinical subtype
Name: Leydig cell hypoplasia due to LHB deficiency
OrphaCode: 325448
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to a testosterone synthesis defect
OrphaCode: 90783
DisorderType: Category
Children: Name: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
OrphaCode: 90786
DisorderType: Category
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: 46,XY difference of sex development due to testicular steroidogenesis defect
OrphaCode: 90787
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
OrphaCode: 752
DisorderType: Disease
Name: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
OrphaCode: 90796
DisorderType: Disease
Name: 46,XY difference of sex development due to a cholesterol synthesis defect
OrphaCode: 325511
DisorderType: Category
Children: Name: Smith-Lemli-Opitz syndrome
OrphaCode: 818
DisorderType: Malformation syndrome
Name: 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
OrphaCode: 98086
DisorderType: Category
Children: Name: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
OrphaCode: 753
DisorderType: Disease
Name: 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
OrphaCode: 443090
DisorderType: Category
Children: Name: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
OrphaCode: 443087
DisorderType: Disease
Name: 46,XY difference of sex development induced by maternal exposure to endocrine disruptors
OrphaCode: 325537
DisorderType: Category
Name: Sex chromosome difference of sex development
OrphaCode: 325546
DisorderType: Category
Children: Name: Turner syndrome
OrphaCode: 881
DisorderType: Malformation syndrome
Children: Name: Monosomy X
OrphaCode: 99226
DisorderType: Etiological subtype
Name: Mosaic monosomy X
OrphaCode: 99228
DisorderType: Etiological subtype
Name: Turner syndrome due to structural X chromosome anomalies
OrphaCode: 99413
DisorderType: Etiological subtype
Name: 48,XXYY syndrome
OrphaCode: 10
DisorderType: Malformation syndrome
Name: 45,X/46,XY mixed gonadal dysgenesis
OrphaCode: 1772
DisorderType: Malformation syndrome
Name: 48,XXXY syndrome
OrphaCode: 96263
DisorderType: Malformation syndrome
Name: 49,XXXXY syndrome
OrphaCode: 96264
DisorderType: Malformation syndrome
Name: Tetragametic chimerism
OrphaCode: 199310
DisorderType: Malformation syndrome
Name: Primary lipodystrophy
OrphaCode: 90970
DisorderType: Category
Children: Name: Genetic lipodystrophy
OrphaCode: 98305
DisorderType: Category
Children: Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Lipodystrophy due to peptidic growth factors deficiency
OrphaCode: 1979
DisorderType: Disease
Name: Mandibuloacral dysplasia
OrphaCode: 2457
DisorderType: Malformation syndrome
Children: Name: Mandibuloacral dysplasia with type A lipodystrophy
OrphaCode: 90153
DisorderType: Clinical subtype
Name: Mandibuloacral dysplasia with type B lipodystrophy
OrphaCode: 90154
DisorderType: Clinical subtype
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Wiedemann-Rautenstrauch syndrome
OrphaCode: 3455
DisorderType: Malformation syndrome
Name: Lipodystrophy-intellectual disability-deafness syndrome
OrphaCode: 50811
DisorderType: Disease
Name: Familial partial lipodystrophy
OrphaCode: 98306
DisorderType: Clinical group
Children: Name: Familial partial lipodystrophy, Dunnigan type
OrphaCode: 2348
DisorderType: Disease
Name: PPARG-related familial partial lipodystrophy
OrphaCode: 79083
DisorderType: Disease
Name: Familial partial lipodystrophy, Köbberling type
OrphaCode: 79084
DisorderType: Disease
Name: AKT2-related familial partial lipodystrophy
OrphaCode: 79085
DisorderType: Disease
Name: PLIN1-related familial partial lipodystrophy
OrphaCode: 280356
DisorderType: Disease
Name: Autosomal semi-dominant severe lipodystrophic laminopathy
OrphaCode: 280365
DisorderType: Disease
Name: CIDEC-related familial partial lipodystrophy
OrphaCode: 435651
DisorderType: Disease
Name: LIPE-related familial partial lipodystrophy
OrphaCode: 435660
DisorderType: Disease
Name: Severe neurodegenerative syndrome with lipodystrophy
OrphaCode: 363400
DisorderType: Disease
Name: Keppen-Lubinsky syndrome
OrphaCode: 435628
DisorderType: Malformation syndrome
Name: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
OrphaCode: 363649
DisorderType: Disease
Name: Proteasome-associated autoinflammatory syndrome
OrphaCode: 324977
DisorderType: Disease
Name: Nestor-Guillermo progeria syndrome
OrphaCode: 280576
DisorderType: Malformation syndrome
Name: Acquired lipodystrophy
OrphaCode: 98307
DisorderType: Category
Children: Name: Acquired generalized lipodystrophy
OrphaCode: 79086
DisorderType: Disease
Name: Acquired partial lipodystrophy
OrphaCode: 79087
DisorderType: Disease
Name: Localized lipodystrophy
OrphaCode: 79088
DisorderType: Clinical group
Children: Name: Centrifugal lipodystrophy
OrphaCode: 90156
DisorderType: Disease
Name: Drug-induced localized lipodystrophy
OrphaCode: 90157
DisorderType: Disease
Name: Idiopathic localized lipodystrophy
OrphaCode: 90158
DisorderType: Disease
Name: Panniculitis-induced localized lipodystrophy
OrphaCode: 90159
DisorderType: Disease
Name: Pressure-induced localized lipoatrophy
OrphaCode: 90160
DisorderType: Disease
Name: Rare diabetes mellitus
OrphaCode: 101952
DisorderType: Category
Children: Name: Neonatal diabetes mellitus
OrphaCode: 224
DisorderType: Category
Children: Name: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
OrphaCode: 65288
DisorderType: Malformation syndrome
Name: DEND syndrome
OrphaCode: 79134
DisorderType: Disease
Name: Isolated permanent neonatal diabetes mellitus
OrphaCode: 99885
DisorderType: Disease
Name: Transient neonatal diabetes mellitus
OrphaCode: 99886
DisorderType: Disease
Name: Intermediate DEND syndrome
OrphaCode: 99989
DisorderType: Disease
Name: Rare insulin-resistance syndrome
OrphaCode: 181368
DisorderType: Category
Children: Name: Leprechaunism
OrphaCode: 508
DisorderType: Malformation syndrome
Name: Congenital generalized lipodystrophy
OrphaCode: 528
DisorderType: Disease
Name: Insulin-resistance syndrome type A
OrphaCode: 2297
DisorderType: Disease
Name: Rabson-Mendenhall syndrome
OrphaCode: 769
DisorderType: Malformation syndrome
Name: SHORT syndrome
OrphaCode: 3163
DisorderType: Malformation syndrome
Name: Insulin-resistance syndrome type B
OrphaCode: 2298
DisorderType: Disease
Name: Short fifth metacarpals-insulin resistance syndrome
OrphaCode: 66518
DisorderType: Disease
Name: Acquired generalized lipodystrophy
OrphaCode: 79086
DisorderType: Disease
Name: Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
OrphaCode: 90301
DisorderType: Disease
Name: PLIN1-related familial partial lipodystrophy
OrphaCode: 280356
DisorderType: Disease
Name: Autosomal semi-dominant severe lipodystrophic laminopathy
OrphaCode: 280365
DisorderType: Disease
Name: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
OrphaCode: 436144
DisorderType: Disease
Name: Microcephalic primordial dwarfism-insulin resistance syndrome
OrphaCode: 436182
DisorderType: Malformation syndrome
Name: Rare diabetes mellitus type 1
OrphaCode: 181371
DisorderType: Category
Children: Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Wolfram syndrome
OrphaCode: 3463
DisorderType: Disease
Name: H syndrome
OrphaCode: 168569
DisorderType: Malformation syndrome
Name: Autoimmune polyendocrinopathy type 3
OrphaCode: 227982
DisorderType: Disease
Name: Wolfram-like syndrome
OrphaCode: 411590
DisorderType: Disease
Name: Rare diabetes mellitus type 2
OrphaCode: 181376
DisorderType: Category
Children: Name: Alström syndrome
OrphaCode: 64
DisorderType: Disease
Name: MODY
OrphaCode: 552
DisorderType: Disease
Name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
OrphaCode: 93111
DisorderType: Clinical subtype
Name: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
OrphaCode: 391408
DisorderType: Disease
Name: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
OrphaCode: 544628
DisorderType: Disease
Name: Other rare diabetes mellitus
OrphaCode: 181381
DisorderType: Category
Children: Name: Stiff person spectrum disorder
OrphaCode: 3198
DisorderType: Disease
Children: Name: Progressive encephalomyelitis with rigidity and myoclonus
OrphaCode: 438266
DisorderType: Clinical subtype
Name: Classic stiff person syndrome
OrphaCode: 443192
DisorderType: Clinical subtype
Name: Focal stiff limb syndrome
OrphaCode: 443804
DisorderType: Clinical subtype
Name: Hereditary chronic pancreatitis
OrphaCode: 676
DisorderType: Disease
Name: AREDYLD syndrome
OrphaCode: 1133
DisorderType: Malformation syndrome
Name: Wolcott-Rallison syndrome
OrphaCode: 1667
DisorderType: Disease
Name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
OrphaCode: 2255
DisorderType: Disease
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Myopathy and diabetes mellitus
OrphaCode: 2596
DisorderType: Disease
Name: Thiamine-responsive megaloblastic anemia syndrome
OrphaCode: 49827
DisorderType: Disease
Name: Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
OrphaCode: 306558
DisorderType: Disease
Name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
OrphaCode: 445062
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Rare dyslipidemia
OrphaCode: 101953
DisorderType: Category
Children: Name: Rare hyperlipidemia
OrphaCode: 181422
DisorderType: Category
Children: Name: Dysbetalipoproteinemia
OrphaCode: 412
DisorderType: Disease
Name: Hyperalphalipoproteinemia
OrphaCode: 181428
DisorderType: Clinical group
Children: Name: Cholesterol-ester transfer protein deficiency
OrphaCode: 79506
DisorderType: Disease
Name: Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
OrphaCode: 140905
DisorderType: Disease
Name: Familial chylomicronemia syndrome
OrphaCode: 444490
DisorderType: Disease
Children: Name: Familial lipoprotein lipase deficiency
OrphaCode: 309015
DisorderType: Etiological subtype
Name: Familial apolipoprotein C-II deficiency
OrphaCode: 309020
DisorderType: Etiological subtype
Name: Familial lipase maturation factor 1 deficiency
OrphaCode: 535453
DisorderType: Etiological subtype
Name: Familial GPIHBP1 deficiency
OrphaCode: 535458
DisorderType: Etiological subtype
Name: Familial apolipoprotein A5 deficiency
OrphaCode: 530849
DisorderType: Etiological subtype
Name: Rare hypercholesterolemia
OrphaCode: 477811
DisorderType: Category
Children: Name: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
OrphaCode: 209902
DisorderType: Disease
Name: Homozygous familial hypercholesterolemia
OrphaCode: 391665
DisorderType: Disease
Name: TMEM199-CDG
OrphaCode: 466703
DisorderType: Disease
Name: CCDC115-CDG
OrphaCode: 468684
DisorderType: Disease
Name: Chronic visceral acid sphingomyelinase deficiency
OrphaCode: 77293
DisorderType: Disease
Name: Chronic neurovisceral acid sphingomyelinase deficiency
OrphaCode: 618891
DisorderType: Disease
Name: Rare hypolipidemia
OrphaCode: 181431
DisorderType: Category
Children: Name: Hypoalphalipoproteinemia
OrphaCode: 31153
DisorderType: Clinical group
Children: Name: LCAT deficiency
OrphaCode: 650
DisorderType: Disease
Children: Name: Fish-eye disease
OrphaCode: 79292
DisorderType: Clinical subtype
Name: Familial LCAT deficiency
OrphaCode: 79293
DisorderType: Clinical subtype
Name: Apolipoprotein A-I deficiency
OrphaCode: 425
DisorderType: Disease
Name: Tangier disease
OrphaCode: 31150
DisorderType: Disease
Name: Hypobetalipoproteinemia
OrphaCode: 31154
DisorderType: Clinical group
Children: Name: Abetalipoproteinemia
OrphaCode: 14
DisorderType: Disease
Name: Chylomicron retention disease
OrphaCode: 71
DisorderType: Disease
Name: Rare syndromic dyslipidemia
OrphaCode: 181437
DisorderType: Category
Children: Name: Cerebrotendinous xanthomatosis
OrphaCode: 909
DisorderType: Disease
Name: Sitosterolemia
OrphaCode: 2882
DisorderType: Disease
Name: Lysosomal acid lipase deficiency
OrphaCode: 275761
DisorderType: Disease
Children: Name: Wolman disease
OrphaCode: 75233
DisorderType: Clinical subtype
Name: Cholesteryl ester storage disease
OrphaCode: 75234
DisorderType: Clinical subtype
Name: Lipoprotein glomerulopathy
OrphaCode: 329481
DisorderType: Disease
Name: Rare adrenal disease
OrphaCode: 101954
DisorderType: Category
Children: Name: Endogenous Cushing syndrome
OrphaCode: 641613
DisorderType: Category
Children: Name: Adrenal Cushing syndrome
OrphaCode: 647758
DisorderType: Clinical group
Children: Name: Rare disease with adrenal Cushing syndrome as a major feature
OrphaCode: 314749
DisorderType: Category
Children: Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Li-Fraumeni syndrome
OrphaCode: 524
DisorderType: Disease
Name: McCune-Albright syndrome
OrphaCode: 562
DisorderType: Disease
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Pseudoleprechaunism syndrome, Patterson type
OrphaCode: 2976
DisorderType: Malformation syndrome
Name: Adrenocortical carcinoma
OrphaCode: 1501
DisorderType: Disease
Name: Rare adrenocortical nodular disease with Cushing syndrome as a major feature
OrphaCode: 647768
DisorderType: Clinical group
Children: Name: Isolated primary pigmented nodular adrenocortical disease
OrphaCode: 647772
DisorderType: Disease
Name: Isolated micronodular adrenocortical disease
OrphaCode: 647782
DisorderType: Disease
Name: Cushing syndrome due to cortisol-producing adrenocortical adenoma
OrphaCode: 642788
DisorderType: Disease
Name: Cushing syndrome due to bilateral macronodular adrenocortical disease
OrphaCode: 189427
DisorderType: Disease
Name: ACTH-dependent Cushing syndrome
OrphaCode: 99892
DisorderType: Clinical group
Children: Name: Cushing disease
OrphaCode: 96253
DisorderType: Disease
Name: Cushing syndrome due to ectopic ACTH secretion
OrphaCode: 99889
DisorderType: Disease
Name: Apparent mineralocorticoid excess
OrphaCode: 320
DisorderType: Disease
Name: Adrenal/paraganglial tumor
OrphaCode: 100091
DisorderType: Category
Children: Name: Adrenocortical carcinoma
OrphaCode: 1501
DisorderType: Disease
Name: Familial hyperaldosteronism type II
OrphaCode: 404
DisorderType: Disease
Name: Rare adrenocortical nodular disease
OrphaCode: 649017
DisorderType: Clinical group
Children: Name: Isolated primary pigmented nodular adrenocortical disease
OrphaCode: 647772
DisorderType: Disease
Name: Isolated micronodular adrenocortical disease
OrphaCode: 647782
DisorderType: Disease
Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Pheochromocytoma-paraganglioma
OrphaCode: 573163
DisorderType: Clinical group
Children: Name: Multiple paragangliomas associated with polycythemia
OrphaCode: 324299
DisorderType: Disease
Name: Hereditary pheochromocytoma-paraganglioma
OrphaCode: 29072
DisorderType: Disease
Name: Sporadic pheochromocytoma/secreting paraganglioma
OrphaCode: 276621
DisorderType: Disease
Name: Non-functioning paraganglioma
OrphaCode: 94080
DisorderType: Disease
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Pituitary dermoid and epidermoid cysts
OrphaCode: 91351
DisorderType: Disease
Name: Primary adrenal insufficiency
OrphaCode: 101958
DisorderType: Category
Children: Name: Acute adrenal insufficiency
OrphaCode: 95409
DisorderType: Clinical syndrome
Children: Name: Waterhouse-Friderichsen syndrome
OrphaCode: 100067
DisorderType: Clinical subtype
Name: Bilateral massive adrenal hemorrhage
OrphaCode: 319205
DisorderType: Etiological subtype
Name: Chronic primary adrenal insufficiency
OrphaCode: 101959
DisorderType: Category
Children: Name: Genetic chronic primary adrenal insufficiency
OrphaCode: 101960
DisorderType: Category
Children: Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Triple A syndrome
OrphaCode: 869
DisorderType: Disease
Name: Adrenomyodystrophy
OrphaCode: 977
DisorderType: Disease
Name: Familial glucocorticoid deficiency
OrphaCode: 361
DisorderType: Disease
Name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
OrphaCode: 168558
DisorderType: Disease
Name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
OrphaCode: 289548
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Neonatal adrenoleukodystrophy
OrphaCode: 44
DisorderType: Disease
Name: Congenital adrenal hyperplasia
OrphaCode: 418
DisorderType: Clinical group
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Adrenal hypoplasia congenita
OrphaCode: 595337
DisorderType: Clinical group
Children: Name: IMAGe syndrome
OrphaCode: 85173
DisorderType: Malformation syndrome
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
OrphaCode: 506334
DisorderType: Disease
Name: Xp21 deletion syndrome
OrphaCode: 261476
DisorderType: Disease
Name: Endocrine-cerebro-osteodysplasia syndrome
OrphaCode: 199332
DisorderType: Malformation syndrome
Name: Acquired chronic primary adrenal insufficiency
OrphaCode: 101963
DisorderType: Category
Children: Name: Autoimmune polyendocrinopathy type 2
OrphaCode: 3143
DisorderType: Disease
Name: Addison disease
OrphaCode: 85138
DisorderType: Disease
Name: Adrenogenital syndrome
OrphaCode: 181412
DisorderType: Category
Children: Name: Congenital adrenal hyperplasia
OrphaCode: 418
DisorderType: Clinical group
Children: Name: Congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 90790
DisorderType: Disease
Children: Name: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325524
DisorderType: Clinical subtype
Name: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
OrphaCode: 325529
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
OrphaCode: 90791
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
OrphaCode: 90793
DisorderType: Disease
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
OrphaCode: 90794
DisorderType: Disease
Children: Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
OrphaCode: 315306
DisorderType: Clinical subtype
Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
OrphaCode: 315311
DisorderType: Clinical subtype
Name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
OrphaCode: 90795
DisorderType: Disease
Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
OrphaCode: 95699
DisorderType: Disease
Name: Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
OrphaCode: 63269
DisorderType: Clinical subtype
Name: Generalized glucocorticoid resistance syndrome
OrphaCode: 786
DisorderType: Disease
Name: Hyperandrogenism due to cortisone reductase deficiency
OrphaCode: 168588
DisorderType: Malformation syndrome
Name: MIRAGE syndrome
OrphaCode: 494433
DisorderType: Disease
Name: Rare primary hyperaldosteronism
OrphaCode: 181415
DisorderType: Category
Children: Name: Rare surgically correctable form of primary aldosteronism
OrphaCode: 231637
DisorderType: Category
Children: Name: Primary unilateral adrenal hyperplasia
OrphaCode: 231580
DisorderType: Disease
Name: Adrenocortical carcinoma with pure aldosterone hypersecretion
OrphaCode: 231625
DisorderType: Disease
Name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
OrphaCode: 369929
DisorderType: Disease
Name: Rare non surgically correctable form of primary aldosteronism
OrphaCode: 231641
DisorderType: Category
Children: Name: Ectopic aldosterone-producing tumor
OrphaCode: 231632
DisorderType: Disease
Name: Familial hyperaldosteronism
OrphaCode: 235936
DisorderType: Clinical group
Children: Name: Familial hyperaldosteronism type I
OrphaCode: 403
DisorderType: Disease
Name: Familial hyperaldosteronism type II
OrphaCode: 404
DisorderType: Disease
Name: Familial hyperaldosteronism type III
OrphaCode: 251274
DisorderType: Disease
Name: Familial hyperaldosteronism type IV
OrphaCode: 642671
DisorderType: Disease
Name: Rare hypoaldosteronism
OrphaCode: 181419
DisorderType: Category
Children: Name: Familial hypoaldosteronism
OrphaCode: 427
DisorderType: Disease
Children: Name: Early-onset familial hypoaldosteronism
OrphaCode: 556030
DisorderType: Clinical subtype
Name: Late-onset familial hypoaldosteronism
OrphaCode: 556037
DisorderType: Clinical subtype
Name: Corticosteroid-binding globulin deficiency
OrphaCode: 199247
DisorderType: Disease
Name: Rare thyroid disease
OrphaCode: 101955
DisorderType: Category
Children: Name: Syndrome of reduced sensitivity to thyroid hormone
OrphaCode: 596426
DisorderType: Clinical group
Children: Name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
OrphaCode: 566231
DisorderType: Disease
Name: Allan-Herndon-Dudley syndrome
OrphaCode: 59
DisorderType: Disease
Name: Short stature-delayed bone age due to thyroid hormone metabolism deficiency
OrphaCode: 171706
DisorderType: Disease
Name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
OrphaCode: 566243
DisorderType: Disease
Name: Euthyroid dysprealbuminemic hyperthyroxinemia
OrphaCode: 597939
DisorderType: Disease
Name: Congenital thyroid malformation without hypothyroidism
OrphaCode: 95718
DisorderType: Category
Children: Name: Familial thyroglossal duct cyst
OrphaCode: 93953
DisorderType: Morphological anomaly
Name: Thyroid hemiagenesis
OrphaCode: 95719
DisorderType: Morphological anomaly
Name: Thyroid hypoplasia
OrphaCode: 95720
DisorderType: Morphological anomaly
Name: Rare thyroid tumor
OrphaCode: 100087
DisorderType: Category
Children: Name: Rare thyroid carcinoma
OrphaCode: 100088
DisorderType: Category
Children: Name: Familial medullary thyroid carcinoma
OrphaCode: 99361
DisorderType: Disease
Name: Differentiated thyroid carcinoma
OrphaCode: 146
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2
OrphaCode: 653
DisorderType: Disease
Children: Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Anaplastic thyroid carcinoma
OrphaCode: 142
DisorderType: Disease
Name: Medullary thyroid carcinoma
OrphaCode: 1332
DisorderType: Disease
Name: Familial nonmedullary thyroid carcinoma
OrphaCode: 319494
DisorderType: Clinical group
Children: Name: Familial papillary thyroid carcinoma with renal papillary neoplasia
OrphaCode: 97290
DisorderType: Disease
Name: Familial papillary or follicular thyroid carcinoma
OrphaCode: 319487
DisorderType: Disease
Name: Thyroid lymphoma
OrphaCode: 97285
DisorderType: Disease
Name: Rare hypothyroidism
OrphaCode: 181396
DisorderType: Category
Children: Name: Congenital hypothyroidism
OrphaCode: 442
DisorderType: Category
Children: Name: Transient congenital hypothyroidism
OrphaCode: 178045
DisorderType: Clinical group
Children: Name: Transient congenital hypothyroidism due to maternal factor
OrphaCode: 238696
DisorderType: Category
Children: Name: Fetal iodine syndrome
OrphaCode: 1910
DisorderType: Malformation syndrome
Name: Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
OrphaCode: 95715
DisorderType: Disease
Name: Congenital hypothyroidism due to maternal intake of antithyroid drugs
OrphaCode: 226313
DisorderType: Disease
Name: Transient congenital hypothyroidism due to neonatal factor
OrphaCode: 238699
DisorderType: Category
Children: Name: Genetic transient congenital hypothyroidism
OrphaCode: 226316
DisorderType: Disease
Name: Neonatal iodine exposure
OrphaCode: 238688
DisorderType: Disease
Name: Permanent congenital hypothyroidism
OrphaCode: 226292
DisorderType: Category
Children: Name: Syndromic hypothyroidism
OrphaCode: 177107
DisorderType: Category
Children: Name: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
OrphaCode: 597746
DisorderType: Malformation syndrome
Name: Jung syndrome
OrphaCode: 2321
DisorderType: Malformation syndrome
Name: Pendred syndrome
OrphaCode: 705
DisorderType: Malformation syndrome
Name: Bamforth-Lazarus syndrome
OrphaCode: 1226
DisorderType: Malformation syndrome
Name: Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
OrphaCode: 1882
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Blepharophimosis-intellectual disability syndrome, SBBYS type
OrphaCode: 3047
DisorderType: Malformation syndrome
Name: Muscular pseudohypertrophy-hypothyroidism syndrome
OrphaCode: 2349
DisorderType: Disease
Name: Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
OrphaCode: 88643
DisorderType: Disease
Name: Brain-lung-thyroid syndrome
OrphaCode: 209905
DisorderType: Disease
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Infantile multisystem neurologic-endocrine-pancreatic disease
OrphaCode: 456312
DisorderType: Disease
Name: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
OrphaCode: 589856
DisorderType: Malformation syndrome
Name: Primary congenital hypothyroidism
OrphaCode: 226295
DisorderType: Clinical group
Children: Name: Congenital hypothyroidism due to developmental anomaly
OrphaCode: 95711
DisorderType: Category
Children: Name: Thyroid ectopia
OrphaCode: 95712
DisorderType: Morphological anomaly
Name: Athyreosis
OrphaCode: 95713
DisorderType: Morphological anomaly
Name: Thyroid hemiagenesis
OrphaCode: 95719
DisorderType: Morphological anomaly
Name: Thyroid hypoplasia
OrphaCode: 95720
DisorderType: Morphological anomaly
Name: Primary congenital hypothyroidism without thyroid developmental anomaly
OrphaCode: 95714
DisorderType: Category
Children: Name: Hypothyroidism due to TSH receptor mutations
OrphaCode: 90673
DisorderType: Disease
Name: Familial thyroid dyshormonogenesis
OrphaCode: 95716
DisorderType: Disease
Name: Idiopathic congenital hypothyroidism
OrphaCode: 95717
DisorderType: Disease
Name: Central congenital hypothyroidism
OrphaCode: 226298
DisorderType: Clinical group
Children: Name: Isolated thyroid-stimulating hormone deficiency
OrphaCode: 90674
DisorderType: Disease
Name: Resistance to thyrotropin-releasing hormone syndrome
OrphaCode: 99832
DisorderType: Disease
Name: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
OrphaCode: 226307
DisorderType: Disease
Name: Isolated thyrotropin-releasing hormone deficiency
OrphaCode: 238670
DisorderType: Disease
Name: X-linked central congenital hypothyroidism with late-onset testicular enlargement
OrphaCode: 329235
DisorderType: Disease
Name: Rare adult hypothyroidism
OrphaCode: 177101
DisorderType: Category
Children: Name: IgG4-related thyroid disease
OrphaCode: 64744
DisorderType: Clinical subtype
Name: Autoimmune polyendocrinopathy type 3
OrphaCode: 227982
DisorderType: Disease
Name: Steroid-responsive encephalopathy associated with autoimmune thyroiditis
OrphaCode: 83601
DisorderType: Disease
Name: Rare hyperthyroidism
OrphaCode: 181399
DisorderType: Category
Children: Name: Familial hyperthyroidism due to mutations in TSH receptor
OrphaCode: 424
DisorderType: Disease
Name: Familial gestational hyperthyroidism
OrphaCode: 99819
DisorderType: Disease
Name: Pediatric-onset Graves disease
OrphaCode: 525731
DisorderType: Disease
Name: Familial multinodular goiter
OrphaCode: 276399
DisorderType: Disease
Name: Polyendocrinopathy
OrphaCode: 101956
DisorderType: Category
Children: Name: Bangstad syndrome
OrphaCode: 1227
DisorderType: Malformation syndrome
Name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
OrphaCode: 37042
DisorderType: Disease
Name: Multiple polyglandular tumor
OrphaCode: 100094
DisorderType: Category
Children: Name: Von Hippel-Lindau disease
OrphaCode: 892
DisorderType: Disease
Name: Carney complex
OrphaCode: 1359
DisorderType: Disease
Name: Carney-Stratakis syndrome
OrphaCode: 97286
DisorderType: Disease
Name: Carney triad
OrphaCode: 139411
DisorderType: Disease
Name: Multiple endocrine neoplasia
OrphaCode: 276161
DisorderType: Clinical group
Children: Name: Multiple endocrine neoplasia type 1
OrphaCode: 652
DisorderType: Disease
Name: Multiple endocrine neoplasia type 2
OrphaCode: 653
DisorderType: Disease
Children: Name: Multiple endocrine neoplasia type 2A
OrphaCode: 247698
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 2B
OrphaCode: 247709
DisorderType: Clinical subtype
Name: Multiple endocrine neoplasia type 4
OrphaCode: 276152
DisorderType: Disease
Name: Autoimmune polyendocrinopathy
OrphaCode: 282196
DisorderType: Clinical group
Children: Name: Autoimmune polyendocrinopathy type 2
OrphaCode: 3143
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 1
OrphaCode: 3453
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 3
OrphaCode: 227982
DisorderType: Disease
Name: Autoimmune polyendocrinopathy type 4
OrphaCode: 227990
DisorderType: Disease
Name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
OrphaCode: 391487
DisorderType: Disease
Name: Combined immunodeficiency due to LRBA deficiency
OrphaCode: 445018
DisorderType: Disease
Name: Rare hypothalamic or pituitary disease
OrphaCode: 181384
DisorderType: Category
Children: Name: Diencephalic syndrome
OrphaCode: 1672
DisorderType: Disease
Name: Pituitary deficiency
OrphaCode: 101957
DisorderType: Category
Children: Name: Non-acquired pituitary hormone deficiency
OrphaCode: 95488
DisorderType: Category
Children: Name: Non-acquired isolated growth hormone deficiency
OrphaCode: 631
DisorderType: Disease
Children: Name: Short stature due to growth hormone qualitative anomaly
OrphaCode: 629
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type IA
OrphaCode: 231662
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type IB
OrphaCode: 231671
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type II
OrphaCode: 231679
DisorderType: Clinical subtype
Name: Isolated growth hormone deficiency type III
OrphaCode: 231692
DisorderType: Clinical subtype
Children: Name: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
OrphaCode: 632
DisorderType: Clinical subtype
Name: X-linked intellectual disability with isolated growth hormone deficiency
OrphaCode: 67045
DisorderType: Clinical subtype
Name: Non-acquired combined pituitary hormone deficiency
OrphaCode: 467
DisorderType: Category
Children: Name: Disease associated with non-acquired combined pituitary hormone deficiency
OrphaCode: 95495
DisorderType: Category
Children: Name: Holoprosencephaly
OrphaCode: 2162
DisorderType: Malformation syndrome
Children: Name: Alobar holoprosencephaly
OrphaCode: 93925
DisorderType: Clinical subtype
Name: Midline interhemispheric variant of holoprosencephaly
OrphaCode: 93926
DisorderType: Clinical subtype
Name: Semilobar holoprosencephaly
OrphaCode: 220386
DisorderType: Clinical subtype
Name: Lobar holoprosencephaly
OrphaCode: 93924
DisorderType: Clinical subtype
Name: Septopreoptic holoprosencephaly
OrphaCode: 280195
DisorderType: Clinical subtype
Name: Pallister-Hall syndrome
OrphaCode: 672
DisorderType: Malformation syndrome
Name: Johanson-Blizzard syndrome
OrphaCode: 2315
DisorderType: Malformation syndrome
Name: Septo-optic dysplasia spectrum
OrphaCode: 3157
DisorderType: Malformation syndrome
Name: Axenfeld-Rieger syndrome
OrphaCode: 782
DisorderType: Malformation syndrome
Name: Anophthalmia/microphthalmia-esophageal atresia syndrome
OrphaCode: 77298
DisorderType: Malformation syndrome
Name: Short stature-pituitary and cerebellar defects-small sella turcica syndrome
OrphaCode: 85442
DisorderType: Disease
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
OrphaCode: 231720
DisorderType: Malformation syndrome
Name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
OrphaCode: 293978
DisorderType: Disease
Name: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
OrphaCode: 420584
DisorderType: Malformation syndrome
Name: Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
OrphaCode: 178025
DisorderType: Category
Children: Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Isolated thyroid-stimulating hormone deficiency
OrphaCode: 90674
DisorderType: Disease
Name: Pituitary stalk interruption syndrome
OrphaCode: 95496
DisorderType: Morphological anomaly
Name: Congenital hypogonadotropic hypogonadism
OrphaCode: 174590
DisorderType: Category
Children: Name: Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
OrphaCode: 181387
DisorderType: Category
Children: Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: Prader-Willi syndrome
OrphaCode: 739
DisorderType: Disease
Children: Name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
OrphaCode: 98754
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal 15q11q13 deletion
OrphaCode: 98793
DisorderType: Etiological subtype
Children: Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
OrphaCode: 177901
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
OrphaCode: 177904
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to translocation
OrphaCode: 177907
DisorderType: Etiological subtype
Name: Prader-Willi syndrome due to imprinting mutation
OrphaCode: 177910
DisorderType: Etiological subtype
Name: Laurence-Moon syndrome
OrphaCode: 2377
DisorderType: Malformation syndrome
Name: Cerebellar ataxia-hypogonadism syndrome
OrphaCode: 1173
DisorderType: Disease
Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
OrphaCode: 1180
DisorderType: Disease
Name: Cataract-intellectual disability-hypogonadism syndrome
OrphaCode: 1387
DisorderType: Malformation syndrome
Name: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
OrphaCode: 2230
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
OrphaCode: 2235
DisorderType: Disease
Name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
OrphaCode: 2250
DisorderType: Disease
Name: Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
OrphaCode: 2560
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Kallmann syndrome-heart disease syndrome
OrphaCode: 2326
DisorderType: Malformation syndrome
Name: Bardet-Biedl syndrome
OrphaCode: 110
DisorderType: Disease
Name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
OrphaCode: 88637
DisorderType: Clinical subtype
Name: ANE syndrome
OrphaCode: 157954
DisorderType: Disease
Name: Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
OrphaCode: 293967
DisorderType: Malformation syndrome
Name: Prader-Willi-like syndrome
OrphaCode: 398073
DisorderType: Clinical group
Children: Name: CPE-related Prader-Willi-like syndrome
OrphaCode: 633028
DisorderType: Disease
Name: 6q16 microdeletion syndrome
OrphaCode: 171829
DisorderType: Disease
Name: SIM1-related Prader-Willi-like syndrome
OrphaCode: 398079
DisorderType: Disease
Name: MAGEL2-related Prader-Willi-like syndrome
OrphaCode: 398069
DisorderType: Disease
Name: Brachytelephalangy-dysmorphism-Kallmann syndrome
OrphaCode: 1295
DisorderType: Malformation syndrome
Name: Polyendocrine-polyneuropathy syndrome
OrphaCode: 453533
DisorderType: Disease
Name: Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
OrphaCode: 181390
DisorderType: Category
Children: Name: Obesity due to congenital leptin deficiency
OrphaCode: 66628
DisorderType: Etiological subtype
Name: Obesity due to prohormone convertase I deficiency
OrphaCode: 71528
DisorderType: Etiological subtype
Name: Non-acquired panhypopituitarism
OrphaCode: 90695
DisorderType: Disease
Name: Combined pituitary hormone deficiencies, genetic forms
OrphaCode: 95494
DisorderType: Disease
Name: Familial adrenal hypoplasia with absent pituitary luteinizing hormone
OrphaCode: 95700
DisorderType: Disease
Name: X-linked adrenal hypoplasia congenita
OrphaCode: 95702
DisorderType: Disease
Name: Obesity due to leptin receptor gene deficiency
OrphaCode: 179494
DisorderType: Etiological subtype
Name: Isolated congenital hypogonadotropic hypogonadism
OrphaCode: 238666
DisorderType: Disease
Children: Name: Kallmann syndrome
OrphaCode: 478
DisorderType: Clinical subtype
Name: Normosmic congenital hypogonadotropic hypogonadism
OrphaCode: 432
DisorderType: Clinical subtype
Name: Isolated follicle stimulating hormone deficiency
OrphaCode: 52901
DisorderType: Disease
Name: Congenital isolated ACTH deficiency
OrphaCode: 199296
DisorderType: Disease
Name: Short stature due to GHSR deficiency
OrphaCode: 314811
DisorderType: Disease
Name: Acquired pituitary hormone deficiency
OrphaCode: 95502
DisorderType: Category
Children: Name: Pituitary hormone deficiency of tumoral origin
OrphaCode: 95503
DisorderType: Category
Children: Name: Meningioma
OrphaCode: 2495
DisorderType: Disease
Name: Optic pathway glioma
OrphaCode: 2086
DisorderType: Disease
Name: Chordoma
OrphaCode: 178
DisorderType: Disease
Name: Craniopharyngioma
OrphaCode: 54595
DisorderType: Disease
Name: Pituitary deficiency due to Rathke cleft cysts
OrphaCode: 91350
DisorderType: Disease
Name: Pituitary dermoid and epidermoid cysts
OrphaCode: 91351
DisorderType: Disease
Name: Germinoma of the central nervous system
OrphaCode: 91352
DisorderType: Clinical subtype
Name: Pituitary adenoma
OrphaCode: 99408
DisorderType: Clinical group
Children: Name: Non-functioning pituitary adenoma
OrphaCode: 91349
DisorderType: Disease
Children: Name: Silent pituitary adenoma
OrphaCode: 314786
DisorderType: Histopathological subtype
Name: Null pituitary adenoma
OrphaCode: 314790
DisorderType: Histopathological subtype
Name: Functioning pituitary adenoma
OrphaCode: 314753
DisorderType: Clinical group
Children: Name: Prolactinoma
OrphaCode: 2965
DisorderType: Disease
Name: TSH-secreting pituitary adenoma
OrphaCode: 91347
DisorderType: Disease
Name: Functioning gonadotropic adenoma
OrphaCode: 91348
DisorderType: Disease
Name: Cushing disease
OrphaCode: 96253
DisorderType: Disease
Name: Somatotropic adenoma
OrphaCode: 96256
DisorderType: Clinical group
Children: Name: Acromegaly
OrphaCode: 963
DisorderType: Disease
Name: Pituitary gigantism
OrphaCode: 99725
DisorderType: Disease
Name: Nelson syndrome
OrphaCode: 199244
DisorderType: Clinical syndrome
Name: Mixed functioning pituitary adenoma
OrphaCode: 314759
DisorderType: Category
Children: Name: Somatomammotropinoma
OrphaCode: 314769
DisorderType: Disease
Name: Familial isolated pituitary adenoma
OrphaCode: 314777
DisorderType: Disease
Name: Pituitary hormone deficiency of meningeal origin
OrphaCode: 95505
DisorderType: Category
Children: Name: Arachnoid cyst
OrphaCode: 2356
DisorderType: Morphological anomaly
Name: Pituitary deficiency due to empty sella turcica syndrome
OrphaCode: 91354
DisorderType: Disease
Name: Primary hypophysitis
OrphaCode: 95506
DisorderType: Clinical group
Children: Name: Adenohypophysitis
OrphaCode: 95512
DisorderType: Disease
Name: Panhypophysitis
OrphaCode: 95513
DisorderType: Disease
Name: Infundibulo-neurohypophysitis
OrphaCode: 238305
DisorderType: Disease
Name: Pituitary hormone deficiency of vascular origin
OrphaCode: 95611
DisorderType: Category
Children: Name: Sheehan syndrome
OrphaCode: 91355
DisorderType: Malformation syndrome
Name: Pituitary apoplexy
OrphaCode: 95613
DisorderType: Disease
Name: Pituitary hormone deficiency secondary to a granulomatous disease
OrphaCode: 95617
DisorderType: Category
Children: Name: Sarcoidosis
OrphaCode: 797
DisorderType: Disease
Name: Multifocal tuberculosis
OrphaCode: 645854
DisorderType: Disease
Name: Pituitary hormone deficiency secondary to storage disease
OrphaCode: 95618
DisorderType: Category
Children: Name: Beta-thalassemia
OrphaCode: 848
DisorderType: Disease
Children: Name: Beta-thalassemia intermedia
OrphaCode: 231222
DisorderType: Clinical subtype
Name: Beta-thalassemia major
OrphaCode: 231214
DisorderType: Clinical subtype
Name: Dominant beta-thalassemia
OrphaCode: 231226
DisorderType: Clinical subtype
Name: Hemoglobin H disease
OrphaCode: 93616
DisorderType: Clinical subtype
Name: Post-traumatic pituitary deficiency
OrphaCode: 95619
DisorderType: Disease
Name: Late-onset isolated ACTH deficiency
OrphaCode: 199299
DisorderType: Disease
Name: Immunotherapy induced hypophysitis
OrphaCode: 641350
DisorderType: Disease
Name: Arginine vasopressin deficiency
OrphaCode: 178029
DisorderType: Disease
Children: Name: Hereditary arginine vasopressin deficiency
OrphaCode: 30925
DisorderType: Clinical subtype
Name: Acquired arginine vasopressin deficiency
OrphaCode: 95626
DisorderType: Clinical subtype
Name: X-linked acrogigantism
OrphaCode: 300373
DisorderType: Disease
Name: Duplication of the pituitary gland
OrphaCode: 314621
DisorderType: Morphological anomaly
Name: Familial hyperprolactinemia
OrphaCode: 397685
DisorderType: Disease
Name: Hypothalamic adipsic hypernatraemia syndrome
OrphaCode: 443101
DisorderType: Disease
Name: Prepubertal anorexia nervosa
OrphaCode: 525738
DisorderType: Disease
Name: Rare disorder with hypergonadotropic hypogonadism
OrphaCode: 181441
DisorderType: Category
Children: Name: Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
OrphaCode: 3044
DisorderType: Malformation syndrome
Name: Noonan syndrome
OrphaCode: 648
DisorderType: Malformation syndrome
Name: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
OrphaCode: 2233
DisorderType: Disease
Name: Proximal myotonic myopathy
OrphaCode: 606
DisorderType: Disease
Name: X-linked adrenoleukodystrophy
OrphaCode: 43
DisorderType: Disease
Children: Name: X-linked cerebral adrenoleukodystrophy
OrphaCode: 139396
DisorderType: Clinical subtype
Name: Adrenomyeloneuropathy
OrphaCode: 139399
DisorderType: Clinical subtype
Name: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
OrphaCode: 2229
DisorderType: Malformation syndrome
Name: Primary hypergonadotropic hypogonadism-partial alopecia syndrome
OrphaCode: 2232
DisorderType: Disease
Name: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
OrphaCode: 2234
DisorderType: Malformation syndrome
Name: Hypergonadotropic hypogonadism-cataract syndrome
OrphaCode: 2410
DisorderType: Malformation syndrome
Name: Mikati-Najjar-Sahli syndrome
OrphaCode: 2558
DisorderType: Malformation syndrome
Name: Woodhouse-Sakati syndrome
OrphaCode: 3464
DisorderType: Disease
Name: Hydrocephalus-obesity-hypogonadism syndrome
OrphaCode: 2183
DisorderType: Malformation syndrome
Name: Deafness-hypogonadism syndrome
OrphaCode: 90646
DisorderType: Malformation syndrome
Name: X-linked intellectual disability, Cilliers type
OrphaCode: 163971
DisorderType: Disease
Name: X-linked intellectual disability, Van Esch type
OrphaCode: 163976
DisorderType: Malformation syndrome
Name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
OrphaCode: 280679
DisorderType: Disease
Name: Hypoinsulinemic hypoglycemia and body hemihypertrophy
OrphaCode: 293964
DisorderType: Disease
Name: Hyperinsulinemic hypoglycaemia
OrphaCode: 443095
DisorderType: Category
Children: Name: Familial hyperinsulinism
OrphaCode: 276525
DisorderType: Category
Children: Name: Congenital isolated hyperinsulinism
OrphaCode: 657
DisorderType: Clinical group
Children: Name: Diazoxide-sensitive diffuse hyperinsulinism
OrphaCode: 165985
DisorderType: Clinical group
Children: Name: Hyperinsulinism-hyperammonemia syndrome
OrphaCode: 35878
DisorderType: Disease
Name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
OrphaCode: 71212
DisorderType: Disease
Name: Congenital glucokinase-related hyperinsulinism
OrphaCode: 79299
DisorderType: Disease
Name: Exercise-induced hyperinsulinism
OrphaCode: 165991
DisorderType: Disease
Name: Congenital hyperinsulinism due to HNF4A deficiency
OrphaCode: 263455
DisorderType: Disease
Name: Hyperinsulinism due to UCP2 deficiency
OrphaCode: 276556
DisorderType: Disease
Name: Autosomal dominant hyperinsulinism due to SUR1 deficiency
OrphaCode: 276575
DisorderType: Disease
Name: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 276580
DisorderType: Disease
Name: Hyperinsulinism due to HNF1A deficiency
OrphaCode: 324575
DisorderType: Disease
Name: Diazoxide-resistant hyperinsulinism
OrphaCode: 276585
DisorderType: Clinical group
Children: Name: Diazoxide-resistant focal hyperinsulinism
OrphaCode: 79298
DisorderType: Clinical group
Children: Name: Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
OrphaCode: 276598
DisorderType: Disease
Name: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 276603
DisorderType: Disease
Name: Diazoxide-resistant diffuse hyperinsulinism
OrphaCode: 165988
DisorderType: Clinical group
Children: Name: Autosomal recessive hyperinsulinism due to SUR1 deficiency
OrphaCode: 79643
DisorderType: Disease
Name: Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
OrphaCode: 79644
DisorderType: Disease
Name: Hyperinsulinism due to INSR deficiency
OrphaCode: 263458
DisorderType: Disease
Name: Non-insulinoma pancreatogenous hypoglycemia syndrome
OrphaCode: 276608
DisorderType: Disease
Name: Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
OrphaCode: 544628
DisorderType: Disease
Name: Insulin autoimmune syndrome
OrphaCode: 411593
DisorderType: Disease