ABNORMALITY OF THE ENDOCRINE SYSTEM, HP:0000818

Associated diseases: MULLERIAN APLASIA AND HYPERANDROGENISM, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VII, FACTOR V DEFICIENCY, KOWARSKI SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BARTTER SYNDROME, TYPE 2, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY, ACRODERMATITIS ENTEROPATHICA, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, PREMATURE OVARIAN FAILURE 1, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, BOUCHER-NEUHAUSER SYNDROME, GLUCOCORTICOID DEFICIENCY 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, KENNY-CAFFEY SYNDROME, TYPE 2, KENNY-CAFFEY SYNDROME, TYPE 1, LARON DWARFISM, MANDIBULOACRAL DYSPLASIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, AROMATASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CRANIOSYNOSTOSIS 4, VELOCARDIOFACIAL SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, MICROPHTHALMIA, SYNDROMIC 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE, VON WILLEBRAND DISEASE, TYPE 1, HYPERPROINSULINEMIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, SECKEL SYNDROME 7, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, MARTSOLF SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG 6, ?TETRA-AMELIA SYNDROME, BORJESON-FORSSMAN-LEHMANN SYNDROME, ACROMELIC FRONTONASAL DYSOSTOSIS, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, PARAGANGLIOMAS 3, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, THYROID HORMONE METABOLISM, ABNORMAL, GLYCOGEN STORAGE DISEASE IA, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, ?PREMATURE OVARIAN FAILURE 10, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, MODY, TYPE IV, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MODY, TYPE III, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, GLYCOGEN STORAGE DISEASE IC, BARTTER SYNDROME, TYPE 4B, DIGENIC, BARDET-BIEDL SYNDROME 17, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE IB, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, COWDEN SYNDROME 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, DICARBOXYLIC AMINOACIDURIA, SMITH-MAGENIS SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, PSEUDOHYPOALDOSTERONISM, TYPE IIC, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, CARNEY COMPLEX, TYPE 1, GLANZMANN THROMBASTHENIA, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, THRYOID DYSHORMONOGENESIS 6, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, THYROID DYSHORMONOGENESIS 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, QUEBEC PLATELET DISORDER, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, SILVER-RUSSELL SYNDROME, OVARIAN DYSGENESIS 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, D-BIFUNCTIONAL PROTEIN DEFICIENCY, PANHYPOPITUITARISM, X-LINKED, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PERRAULT SYNDROME 4, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, HEPATIC ADENOMA, SOMATIC, CARCINOID TUMORS, INTESTINAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, SESAME SYNDROME, ?BARDET-BIEDL SYNDROME 11, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, PRECOCIOUS PUBERTY, CENTRAL, 2, WOODHOUSE-SAKATI SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MITOCHONDRIAL MYOPATHY WITH DIABETES, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, THYROID DYSHORMONOGENESIS 2A, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA, PREMATURE OVARIAN FAILURE 4, OVARIAN DYSGENESIS 2, [PHENYLTHIOCARBAMIDE TASTING], PITUITARY HORMONE DEFICIENCY, COMBINED, 1, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, PSEUDOHYPOALDOSTERONISM, TYPE I, ?LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3, CORTISONE REDUCTASE DEFICIENCY 1, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 2, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, RETICULAR DYSGENESIS, PERRAULT SYNDROME 1, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, MODY, TYPE II, NEPHROTIC SYNDROME, TYPE 1, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MECKEL SYNDROME 1, PARAGANGLIOMAS 4, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, OBESITY, MORBID, DUE TO LEPTIN RECEPTOR DEFICIENCY, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, HYPERTHYROIDISM, FAMILIAL GESTATIONAL, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, GLYCEROL KINASE DEFICIENCY, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MICROPHTHALMIA, SYNDROMIC 14, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, BECKWITH-WIEDEMANN SYNDROME, APPARENT MINERALOCORTICOID EXCESS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PENDRED'S SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 20, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, DIABETES MELLITUS, TRANSIENT NEONATAL 2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BARDET-BIEDL SYNDROME 5, OVARIAN DYSGENESIS 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, BRANCHIOOCULOFACIAL SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GITELMAN SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, DIABETES INSIPIDUS, NEPHROGENIC, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, ALLAN-HERNDON-DUDLEY SYNDROME, SENIOR-LOKEN SYNDROME 9, MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, GRAY PLATELET SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA, HEMOCHROMATOSIS, TYPE 3, LEOPARD SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 10, BARDET-BIEDL SYNDROME 10, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, MORBID OBESITY AND SPERMATOGENIC FAILURE, DENT DISEASE, {HASHIMOTO THYROIDITIS}, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, ?BARDET-BIEDL SYNDROME 19, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, SCALP-EAR-NIPPLE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, ACID-LABILE SUBUNIT, DEFICIENCY OF, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, 46XY SEX REVERSAL 1, JOHANSON-BLIZZARD SYNDROME, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, HARTSFIELD SYNDROME, DIGEORGE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, LEPRECHAUNISM, PEROXISOME BIOGENESIS DISORDER 2B, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BLEEDING DISORDER, PLATELET-TYPE, 11, AXENFELD-RIEGER SYNDROME, TYPE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, FACTOR VII DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, SERKAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MYOTONIC DYSTROPHY 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, COHEN SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 2}, MENTAL RETARDATION, X-LINKED, GLYCOGEN STORAGE DISEASE IXC, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, GLYCOGEN STORAGE DISEASE 0, LIVER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PREMATURE OVARIAN FAILURE 9, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, VICI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ?CHARGE SYNDROME, CHARGE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA, COWDEN SYNDROME 6, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, ALAGILLE SYNDROME, PITUITARY ADENOMA, PROLACTIN-SECRETING, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), {?THYROID CANCER, NONMEDULLARY, 5}, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BLOOM SYNDROME, FRASIER SYNDROME, LIDDLE SYNDROME, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, COWDEN SYNDROME 5, ?BLEEDING DISORDER, PLATELET-TYPE, 19, RENAL ADYSPLASIA, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PALLISTER-HALL SYNDROME, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), GLUTARIC ACIDURIA III, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46XY SEX REVERSAL, PARTIAL OR COMPLETE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPARATHYROIDISM 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ALSTROM SYNDROME, SHORT SYNDROME, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, PARAGANGLIOMAS 2, BARDET-BIEDL SYNDROME 6, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ULNAR-MAMMARY SYNDROME, GLYCOGEN STORAGE DISEASE XII, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IC, FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, MODY, TYPE I, BARDET-BIEDL SYNDROME 8, BARDET-BIEDL SYNDROME 4, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, RUBINSTEIN-TAYBI SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, 46XY SEX REVERSAL 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, FUHRMANN SYNDROME, C1S DEFICIENCY, RENAL CYSTS AND DIABETES SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IID, ROTHMUND-THOMSON SYNDROME, HOLOPROSENCEPHALY-2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, FACTOR X DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, RHABDOMYOSARCOMA, EMBRYONAL, 2, THYROID DYSHORMONOGENESIS 1, BAMFORTH-LAZARUS SYNDROME, TENORIO SYNDROME, BJORNSTAD SYNDROME, PANCREATIC AGENESIS 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BARTTER SYNDROME, TYPE 1, HEMOCHROMATOSIS, TYPE 2A, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING 2, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, PREMATURE OVARIAN FAILURE 8, OLIVER-MCFARLANE SYNDROME, LI-FRAUMENI SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE IX, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME, PLATELET GLYCOPROTEIN IV DEFICIENCY, RESTRICTIVE DERMOPATHY, LETHAL, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, THYROID DYSHORMONOGENESIS 3, PERLMAN SYNDROME, PERRAULT SYNDROME 5, CHILD SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, PREMATURE OVARIAN FAILURE 5, ?MICROPHTHALMIA, SYNDROMIC 11, PSEUDOHYPOALDOSTERONISM, TYPE IIB, HYPERTHYROIDISM, NONAUTOIMMUNE, COWDEN SYNDROME 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, GALACTOSEMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SCHAAF-YANG SYNDROME, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, RITSCHER-SCHINZEL SYNDROME 1, WILSON-TURNER SYNDROME, THYROID DYSHORMONOGENESIS 4, PREMATURE OVARIAN FAILURE 2B, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, {AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, PARATHYROID CARCINOMA, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA, KABUKI SYNDROME 1, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, PERRAULT SYNDROME 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: TSC2, AMACR, SLC5A5, PDE4D, VAX1, GP1BA, LBR, CUL3, PTPN22, PHEX, ENPP1, BBS5, TTC7A, NSDHL, IL17RD, LHCGR, AKT2, SPINK1, KIF7, PTRH2, H6PD, TRIM32, G6PC, TTC8, ARSE, POR, CREBBP, PTEN, SUGCT, GCM2, MT-TS1, ATRX, XRCC4, GPR101, FSHR, HAMP, AR, GNAS, RNF216, THRA, GNRHR, MT-ND6, HMGA1, LEP, FGF17, IFNG, FAM177A1, KCNJ1, DHH, SLC30A8, AAAS, MKKS, UBR1, MKRN3, DDX3X, FGD1, TAS2R38, LARS2, CYP21A2, GNAS-AS1, PNPLA6, FOXE1, SLC12A1, GATA1, CP, GP6, MGME1, MT-TE, MCFD2, NRAS, HNF1B, RAB3GAP2, NLGN3, STAG3, SCNN1B, TMCO1, CEP290, MRAP, IARS2, CTDP1, PITX2, AKT1, AIP, LHB, NPHS1, GLI3, RECQL4, MT-TH, ARL6, CTRC, GH1, PAX4, TAC3, BBS9, NSMF, CUL4B, EIF2B1, BBS7, HABP2, ZFAT, PTPN11, IFT27, DMPK, STAT3, IER3IP1, SRD5A2, RBM28, FMR1, ALDOA, MCM4, STAR, ZMPSTE24, RAB40AL, HLA-DQB1, CLCNKB, CCDC170, CD36, LIPA, SARS2, POLR3B, ZFP57, NR3C1, SRY, TSC1, MCM8, FGF8, MT-TS2, PRDM5, DICER1, CCBE1, FSHB, ARMC5, IRX5, LZTFL1, F5, SEMA3E, RAI1, SNRPN, KLHL3, WDR11, ICR1, PDE11A, WNK1, ITGA2B, PROP1, ITGA8, G6PC3, HADH, LRBA, WT1, COL4A5, PTRF, PROK2, MT-CO3, PTPN1, CYP11B1, CDC73, BBS2, USP8, HSD11B1, GNAI2, IL2RG, NR3C2, SOX9, SECISBP2, C1S, FOXL2, CLCNKA, MPI, PDE8B, ERCC3, FGFR1, AVP, POLG, SLC29A3, POC1A, DMXL2, NEUROD1, GK, PTH, SCP2, VPS33B, LIPC, MEN1, GDNF, GHRHR, CCDC28B, WDPCP, FANCA, VIPAS39, EPG5, FANCD2, BRAF, SLC26A3, NOBOX, NFKB2, BBS12, SHH, SLC2A2, MT-TL1, CTNS, GHR, CYP27B1, PTH1R, RIN2, NIN, BMP2, KCNJ5, B4GALNT1, HRAS, HSD11B2, NDN, FOXP3, SOX2, PCSK1, FIBP, TP53, IRS2, STAT5B, SLC16A2, WNK4, BSND, PRSS1, FREM2, ARHGAP11A, AIRE, VDR, PEX1, GTF2H5, CYP19A1, KCNJ10, TGFB1, PGM1, HYLS1, GATA6, KMT2D, CFTR, TACR3, DCAF17, APPL1, MPLKIP, TBCE, TFR2, DUOX2, SLC2A4, FRAS1, BLM, MT-TQ, SLC12A3, IL6, PIK3R1, PUS1, DUOXA2, CTLA4, HSD3B2, WNT4, ADA, ESR1, SDHAF2, C10orf2, BMP15, SERPINE1, GCGR, PEX5, LMNA, F2, PLAGL1, SALL1, BLK, F7, TBX19, LHX4, AP2S1, CYP11B2, PMM2, AK2, PPP1R3A, LMNB2, FOXI1, ERCC8, VPS13B, STK11, BBIP1, ALG1, CDKN1C, BCOR, PNPLA2, FANCM, PIK3CA, ABCD1, JAG1, MKS1, CDKAL1, GATA3, PRKACG, NF1, ARNT2, MTNR1B, GRIP1, SCNN1G, CLCN5, SLC39A4, ANOS1, KCNJ18, DCLRE1C, CCND1, SOX3, MT-TK, GALT, NLGN4X, CEL, ICK, HSD17B3, GLIS3, TSHB, GP9, NKX2-1, TBX1, MAPK8IP1, INS, ABCC8, BSCL2, TPO, DIS3L2, ITGB3, AMHR2, OAS1, SDHD, SDCCAG8, STAT1, MAB21L2, VHL, BBS4, BCS1L, KIF1B, STEAP3, BRCA1, SEMA3A, COQ2, KCTD1, MT-ND1, POLD1, EIF2B2, HNF1A, TSHR, H19, AQP2, ALMS1, BTK, EIF2B5, FAH, SERPINC1, IGF2BP2, HDAC8, DHCR7, MT-ND4, WNT3, PHKG2, SDHA, IGFALS, ERF, MYH9, NTRK1, UPK3A, TP63, TMEM127, SOST, PCNT, BBS1, AMH, CBX2, FEZF1, SLC1A1, CACNA1S, STRADA, TRH, PSMC3IP, IYD, F10, CISD2, EIF2AK3, CEP19, AGPAT2, PRLR, ZSWIM6, CYP17A1, HFM1, PLAU, CAV1, IGSF1, PAPSS2, KISS1, CNBP, RAG1, ACP5, FANCE, TBX3, PPARG, CAPN10, FAM111A, OTX2, PRKAR1A, KISS1R, TRAF3IP1, SOX10, CDKN2A, IL2RA, TG, BMP4, SDHC, MARS2, SIX3, ERCC2, PDGFRB, EIF2B4, POU1F1, GYS2, HLA-DQA1, THRB, IRS1, PTCH1, WNT7A, PRSS2, CHD7, KRAS, GLI2, NKX2-5, WFS1, WRN, TCF7L2, GP1BB, GAS1, CACNA1D, GHSR, SDHB, TRMT10A, LHX3, POF1B, MARS, HS6ST1, NR0B1, MT-TD, FAM111B, AVPR2, MAX, SLC19A2, LEPR, EYA1, PROKR2, GLUD1, LRP6, PAX8, PLIN1, TTR, GPC3, KCNJ11, GNA11, TTC21B, HNF4A, VWF, MECP2, MC2R, CASR, APC, GCK, SMARCAL1, BBS10, SIX1, NDUFS1, IGF1R, GPD2, SLC26A4, TBC1D7, MAGEL2, SLC37A4, ATP7B, RNF125, SIL1, RAG2, ITPR3, TFAP2A, HESX1, POLR3A, MCM9, RAB23, RETN, HSD17B4, CYP11A1, PHF6, SLC34A3, ENTPD1, ATM, NSD1, PRKACA, FXN, INSR, POMC, KIAA0196, EIF2B3, CEP57, PLCG2, KLF11, SLC16A1, CDKN1B, GLA, FANCC, SCNN1A, MT-ND5, RET, KCNQ1OT1, CLPP, DNAJC3, GNRH1, STX16, BMPR1B, PDX1, NBEAL2, HFE, HFE2