ENDOCRINE FEATURES

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, HYPERPARATHYROIDISM 1, GLYCOGEN STORAGE DISEASE IC, CAMURATI-ENGELMANN DISEASE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PREMATURE OVARIAN FAILURE 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, RABSON-MENDENHALL SYNDROME, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, ?CHARGE SYNDROME, CHARGE SYNDROME, CHILD SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, RITSCHER-SCHINZEL SYNDROME 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LIPOID ADRENAL HYPERPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

TSC2, CAV1, IGSF1, CNBP, SRD5A3, SEMA3E, KCNJ11, PPARG, PRKAR1A, NSDHL, G6PC3, FGA, B2M, LRBA, TG, PNPLA2, BMP4, POR, USP8, CDKAL1, CYC1, GNAI2, PTEN, KRAS, APOA1, WFS1, GNAS, CCND1, LEP, MSMO1, CDKN1B, HS6ST1, PTH, NR0B1, FMR1, MEN1, MAX, PTPN1, IFNG, STAT3, INS, LRP6, PLIN1, TTR, DDX3X, GJA1, OAS1, STAT1, CASR, VHL, KIF1B, HNF4A, BMP2, FOXP3, HSD3B2, VDR, TP53, PIEZO1, MAPK8IP1, KISS1R, SLC37A4, TSHR, SIL1, PEX5, ITPR3, BTK, LYZ, POLR3B, STUB1, NR5A1, TGFB1, PTRF, PTPN11, ATM, GATA4, EIF2AK3, GCGR, IER3IP1, APPL1, TP63, CACNA1C, INSR, KIAA0196, LIPE, CIDEC, IL6, STAR, CACNA1S, TRH, RET, ABCC8, HRAS, CISD2, DNAJC3, GNRH1, AGPAT2, BMPR1B, ESR1, PIK3R1, CYP17A1, HFE, AVP, SHH

MULLERIAN APLASIA AND HYPERANDROGENISM, {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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ?HYPERPROLACTINEMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PSEUDOHYPOPARATHYROIDISM IC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PERRAULT SYNDROME 3, PREMATURE OVARIAN FAILURE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT SYNDROME, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CORTISONE REDUCTASE DEFICIENCY 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, CULLER-JONES SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, MODY, TYPE II, HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, PRADER-WILLI SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, PERRAULT SYNDROME 5, HEMOCHROMATOSIS TYPE 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1, PENDRED SYNDROME

LMNA, CAV1, KISS1, GP1BA, GNAS, TBX19, PPARG, HARS2, FGA, B2M, HADH, CLPP, LIPE, WT1, H6PD, MARS2, BMP4, CDC73, WNT4, GNAI2, IRS1, PTCH1, WNT7A, KRAS, APOA1, GLI2, SLC26A4, AR, IGF2, TCF7L2, CCND1, AMACR, HMGA1, LEP, AKT2, MSMO1, CDKN1B, HS6ST1, PTH, IFNG, NKX2-1, GLUD1, CASR, LARS2, TP63, INS, LRP6, PITX2, PAX8, CP, ALDOA, GJA1, IL2RA, SOX9, SDHD, SNRPN, NEUROD1, STAT1, IARS2, GCK, VHL, TG, BMP2, HRAS, NDN, SOX2, PCSK1, NDUFS1, TP53, GLI3, POLD1, DNAJC3, SIL1, PEX5, ITPR3, STAT3, CYC1, SERPINC1, IGF2BP2, HSD17B4, NR5A1, TGFB1, WNT3, PTPN11, GATA4, EIF2AK3, GCGR, ESR1, FXN, INSR, SLC2A4, TANGO2, IL6, STAR, GATA6, TRH, PTEN, HSD3B2, IRS2, SARS2, POLR3B, PNPLA2, NR3C1, PRLR, NDUFB11, PIK3R1, C10orf2, HFE, SHH

{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}, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, BOUCHER-NEUHAUSER SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WOLFRAM SYNDROME 2, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLYCOGEN STORAGE DISEASE IC, CHILD SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THYROID DYSHORMONOGENESIS 5, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, ESTROGEN RESISTANCE

TSC2, CAV1, APPL1, PDE4D, SRD5A3, PPARG, PRKAR1A, NSDHL, G6PC3, B2M, STK11, FMR1, PNPLA2, POR, IRS1, CDKAL1, HSD11B1, GNAI2, ARNT2, KRAS, FOXL2, WFS1, AR, LEP, LMNA, MSMO1, IFNG, FSHR, CCND1, PTH, NR0B1, HSD17B3, PTPN1, CYP21A2, TP63, SEC23B, INS, RET, ALDOA, GJA1, STAT1, CASR, HNF4A, FOXP3, HSD3B2, NDN, VDR, SRD5A2, TP53, PIEZO1, MAPK8IP1, SLC37A4, TSHR, PTEN, ITPR3, HAMP, BTK, STAT3, POLR3B, SLC40A1, STUB1, BMPR1B, EIF2B1, NR5A1, TGFB1, PTPN11, GATA4, EIF2AK3, IER3IP1, SPRY4, PNPLA6, CACNA1C, INSR, IL6, STAR, ZMPSTE24, TRH, DUOXA2, CTNS, HRAS, CISD2, DNAJC3, GNRH1, AGPAT2, NR3C1, ESR1, PIK3R1, CYP17A1, HFE, SHH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MARTSOLF SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, CULLER-JONES SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, XERODERMA PIGMENTOSUM, GROUP B, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, HYPERPARATHYROIDISM, NEONATAL, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ALSTROM SYNDROME, FRASIER SYNDROME, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GITELMAN SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, PALLISTER-HALL SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

PDE4D, CAV1, LMNA, CNBP, MTNR1B, GLI3, NRXN1, TP63, PPARG, EIF2B2, BTK, FGA, B2M, FMR1, WT1, CDKN1C, PNPLA2, BMP4, CDC73, IRS1, GNAI2, CUL7, PTEN, PTCH1, SOX9, ITPR3, KRAS, HTR1A, NKX2-5, AR, ALMS1, IGF2, ERCC3, HS6ST1, FGFR1, BLK, HMGA1, LEP, KCNJ1, PTH, IFNG, GLIS3, GLUD1, PTPN1, STAT3, INS, LRP6, TTR, KCNJ11, GJA1, RAB3GAP2, STAT1, CASR, VHL, KIF1B, USP9X, BMP2, SEMA3A, TP53, MAPK8IP1, ITCH, HNF1A, GLI2, XRCC4, LYZ, AIRE, POLR3A, STUB1, BMPR1B, EIF2B1, TGFB1, PTPN11, GATA4, EIF2AK3, SPRY4, TSC1, PRKACA, CACNA1C, INSR, BLM, CCND1, IL6, DMXL2, CACNA1S, TRH, RET, ABCC8, HRAS, IRS2, GNRH1, STX16, PPP1R15B, NR3C1, ESR1, PIK3R1, SLC12A3, SHH

HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {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}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WOLCOTT-RALLISON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, MALOUF SYNDROME, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

LMNA, TTR, AR, CAV1, PPARG, KRAS, TP53, STUB1, CNBP, EIF2B1, VHL, IGF2, TGFB1, PTPN11, STAT1, IL6, EIF2AK3, SPRY4, BMP2, PRKACA, HMGA1, LEP, GJA1, FGA, ESR1, B2M, FGFR1, CCND1, PTH, IFNG, KIF1B, IRS2, PNPLA2, RET, MAPK8IP1, HRAS, BMP4, PTPN1, GNRH1, PTEN, STX16, NR3C1, STAT3, SHH, INS, LRP6, PIK3R1

PREMATURE OVARIAN FAILURE 7, {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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JOHANSON-BLIZZARD SYNDROME, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, SHORT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HOLOPROSENCEPHALY-2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, BORJESON-FORSSMAN-LEHMANN SYNDROME, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BAMFORTH-LAZARUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PENDRED SYNDROME, LUSCAN-LUMISH SYNDROME, MODY, TYPE II, DIGEORGE SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, RESTRICTIVE DERMOPATHY, LETHAL, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FRAGILE X TREMOR/ATAXIA SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BLOOM SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, 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, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ESTROGEN RESISTANCE

LMNA, CAV1, SALL1, GLI3, AP2S1, DDX3X, PPARG, MARS, OTX2, PRKAR1A, ERCC8, TAF4B, B2M, STK11, FMR1, WT1, SIX3, BCOR, PPP1R15B, FANCM, NBN, NEUROG3, BMP4, CDC73, IRS1, GATA3, THRB, USP8, MCM8, SOX9, CHD7, XRCC4, SOX2, SLC26A4, NKX2-5, AR, IGF2, TCF7L2, THRA, ERCC3, IL6, HMGA1, SNRPN, AKT2, STAR, CCND1, IFNG, NKX2-1, MEN1, GLUD1, GDNF, MAX, FANCA, TP63, DUSP6, TBX1, INS, GCK, PAX8, GATA1, DIS3L2, FANCE, PHF6, SETD2, UBR1, NEUROD1, STAT1, CASR, CTDP1, NFKB2, VHL, HNF4A, BMP2, FOXP3, BRCA1, VDR, TP53, MAPK8IP1, POLD1, RECQL4, MCM4, CDKN1C, HNF1A, PTEN, ITPR3, PAX4, GNRH1, STAT3, ITCH, AIP, POLR3A, HDAC8, STUB1, EIF2B1, NR5A1, TGFB1, WRN, ATM, GATA6, KMT2D, EIF2AK3, DICER1, PRLR, PRKACA, INSR, SLC2A4, PITX2, BLM, FOXE1, CBX2, CDKN1B, GATA4, PTRF, RET, MEF2A, HRAS, NR0B1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, SHH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, PREMATURE OVARIAN FAILURE 7, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, ALSTROM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PITT-HOPKINS-LIKE SYNDROME 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, 3-M SYNDROME 1, CULLER-JONES SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, HOLOPROSENCEPHALY-9, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERRAULT SYNDROME 5, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BARDET-BIEDL SYNDROME 6, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, 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, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, FUHRMANN SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

PDE4D, USP8, CAV1, APPL1, IGSF1, TSC2, KISS1, PRKACA, GNAS, GLI3, NRXN1, ALDOA, WDR11, TP63, PPARG, PRKAR1A, HARS2, EIF2B2, GJA1, BTK, FGA, B2M, STK11, AKT2, KIF7, HSD17B4, BMP4, CDC73, POR, IRS1, WFS1, GHSR, GNAI2, CUL7, PTEN, PTCH1, WNT7A, ALMS1, SOX2, APOA1, SCNN1G, NKX2-5, AR, IGF2, THRA, CCND1, CACNA1D, FGFR1, HMGA1, LEP, LMNA, LHX3, CDKN1B, FSHR, AARS2, HS6ST1, PTH, IFNG, AP2S1, ICK, NKX2-1, GLIS3, SOX9, GLUD1, MKKS, MAX, PTPN1, STAT3, DUSP6, INS, LRP6, MCM8, TTR, KCNJ11, GNA11, SLC2A2, SHOC2, HNF1B, SCNN1B, GDNF, STAT1, KRAS, CASR, PITX2, VHL, KIF1B, USP9X, BMP2, FOXP3, NDN, SEMA3A, VDR, NDUFS1, HTR1A, TP53, MAPK8IP1, MCM4, ITCH, HNF1A, TSHR, GLI2, ITPR3, GNRH1, LYZ, CUL4B, EIF2B5, POLR3A, STUB1, BMPR1B, EIF2B1, LHCGR, NR5A1, TGFB1, PTPN11, ATM, GATA4, EIF2AK3, GCGR, AVP, SPRY4, ESR1, TBCE, CACNA1C, INSR, PCNT, FMR1, IL6, STAR, CACNA1S, TRH, RET, ABCC8, HRAS, IRS2, NR0B1, AGPAT2, STX16, NR3C1, TSC1, PIK3R1, C10orf2, CYP17A1, PEX5, SHH, DICER1

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {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}, GLYCOGEN STORAGE DISEASE XII, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, RABSON-MENDENHALL SYNDROME, CAMURATI-ENGELMANN DISEASE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THYROID DYSHORMONOGENESIS 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, HYPERPROINSULINEMIA, MARINESCO-SJOGREN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ADRENOCORTICOTROPIC HORMONE DEFICIENCY

PCSK1, FGA, STAT1, ALDOA, SIL1, TBX19, PTEN, TG, APOA1, INSR, LEP, IL6, INS, IGF2, TGFB1

MULLERIAN APLASIA AND HYPERANDROGENISM, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, {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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, CULLER-JONES SYNDROME, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, OVARIAN DYSGENESIS 1, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, KOWARSKI SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, LEPRECHAUNISM, HYPERPROINSULINEMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SHORT SYNDROME, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MARTSOLF SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, BAMFORTH-LAZARUS SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THYROID DYSHORMONOGENESIS 1, CORTISONE REDUCTASE DEFICIENCY 2, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, SERKAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PENDRED SYNDROME, BARTTER SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, MODY, TYPE II, HOLOPROSENCEPHALY-9, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, HAMAMY SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, IMAGE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, ADRENAL CORTICAL CARCINOMA, PERRAULT SYNDROME 5, ?CHARGE SYNDROME, CHARGE SYNDROME, CHILD SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ACRODERMATITIS ENTEROPATHICA, MALOUF SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BLOOM SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PLEUROPULMONARY BLASTOMA, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, 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, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, GITELMAN SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, PLATELET-TYPE, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ?46XY SEX REVERSAL 5, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, LIPOID ADRENAL HYPERPLASIA, ?HYPERPROLACTINEMIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, XERODERMA PIGMENTOSUM, GROUP B, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

GATA1, DYRK1B, USP8, CAV1, IRX5, IGSF1, PDE4D, KISS1, CNBP, MTNR1B, GNA11, SEMA3E, GLI3, FXN, AP2S1, ALDOA, TBX3, TP63, PMM2, GCK, PPARG, TRMT10A, MARS, OTX2, PRKAR1A, ABCD1, IGF2, NSDHL, SLC5A5, BTK, FGA, B2M, KISS1R, STK11, LHX3, SPINK1, LRBA, KIF1B, WT1, ITCH, BCOR, FANCA, PNPLA2, PROK2, PTPN11, SDHB, MT-CO3, NBN, AKR1C4, BMP4, CDC73, TNXB, SALL1, NRAS, HSD11B1, GHSR, GNAI2, THRB, PTEN, PTCH1, WNT7A, GP1BA, GH1, KRAS, NFKB2, APOA1, FSHR, SCNN1G, AR, MPI, WRN, GNAS, RNF216, THRA, ERCC3, HS6ST1, CACNA1D, FGFR1, AVP, HMGA1, PTH, LEP, LMNA, AKT2, MSMO1, STAR, ESR1, GK, HLA-DQA1, CCND1, CEL, IFNG, SLC30A8, NRXN1, GPD2, GMPPA, PPP1R15B, NKX2-1, FMR1, MEN1, IL6, GDNF, MAX, IRS1, TSHR, LIPC, GLUD1, DUSP6, FOXE1, INS, LRP6, FANCM, PITX2, SLC12A1, DMXL2, CP, TTR, DDX3X, SHH, GJA1, TG, IL2RA, SHOC2, HNF1B, RAB3GAP2, SDHD, SCNN1B, CTNS, UBR1, NEUROD1, STAT1, CASR, NIN, SOX9, VHL, PPP1R3A, HNF4A, BMP2, FOXP3, HSD3B2, BRCA1, NDN, SLC16A1, SOX2, VDR, TSC2, HTR1A, TANGO2, IRS2, MT-ND1, LIPE, SLC26A4, MAPK8IP1, POLD1, EIF2B2, MCM4, CDKN1C, HNF1A, PTPN1, SIL1, GLI2, ITPR3, HAMP, POLG2, ACP5, LYZ, STAT3, TAC3, AGPAT2, PCSK1, SERPINC1, CUL4B, EIF2B5, EIF2B1, SLC40A1, SEMA3A, LHB, NDUFS1, STUB1, RETN, SLC39A4, BMPR1B, MT-ND4, LHCGR, NR5A1, TGFB1, NONO, ENTPD1, ATM, GATA4, RAB23, EIF2AK3, GCGR, DICER1, APPL1, TSC1, PRKACA, CACNA1C, INSR, DUOX2, TCF7L2, SLC2A4, C10orf2, TP53, BLM, SEC23B, CBX2, SARS2, CDKN1B, GATA6, ZMPSTE24, CACNA1S, FSHB, TRH, RET, MEF2A, CTLA4, ABCC8, HRAS, POLG, WNT4, DNAJC3, GNRH1, PDX1, POLR3B, STX16, NDUFB11, NR3C1, PRLR, PAX8, SLC12A3, HFE, PEX5, PIK3R1

{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}, CAMURATI-ENGELMANN DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, {HASHIMOTO THYROIDITIS}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IC, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPERPROINSULINEMIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITT-HOPKINS-LIKE SYNDROME 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, TIMOTHY SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, MODY, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, COWDEN SYNDROME 7, HYPERPARATHYROIDISM, NEONATAL, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ACRODERMATITIS ENTEROPATHICA, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIDDLE SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, LEOPARD SYNDROME 1

PDE4D, CAV1, TSC2, GNAS, NRXN1, ALDOA, PPARG, OTX2, PRKAR1A, FGA, B2M, STK11, LRBA, PNPLA2, BMP4, IRS1, GNAI2, USP8, SOX9, KRAS, APOA1, SCNN1G, AR, IGF2, FGFR1, LEP, AKT2, MSMO1, DMXL2, CCND1, IFNG, SLC30A8, AP2S1, NKX2-1, MAX, PTPN1, TP63, SEC23B, INS, LRP6, NFKB2, TTR, DDX3X, GJA1, HNF1B, STAT1, CASR, GCK, BMP2, FOXP3, HSD3B2, BRCA1, PCSK1, TP53, MAPK8IP1, POLD1, ITCH, HNF1A, TSHR, PEX5, HAMP, LYZ, SLC40A1, RAB23, BMPR1B, TGFB1, SLC39A4, PTPN11, ATM, GATA4, EIF2AK3, GCGR, AVP, APPL1, STAT3, PRKACA, CACNA1C, SLC2A4, LIPE, IL6, CDKN1B, CACNA1S, TRH, CTLA4, PTEN, HRAS, GNRH1, STX16, NR3C1, ESR1, PIK3R1, HFE, SHH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, HYPERPARATHYROIDISM 1, GLYCOGEN STORAGE DISEASE IC, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PEUTZ-JEGHERS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, CULLER-JONES SYNDROME, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PERRAULT SYNDROME 5, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, PERRAULT SYNDROME 4, ADRENAL CORTICAL CARCINOMA, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LARON DWARFISM, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, COCKAYNE SYNDROME, TYPE A, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL CYSTS AND DIABETES SYNDROME, GLUCOCORTICOID DEFICIENCY 4, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, ULNAR-MAMMARY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, THYROID DYSHORMONOGENESIS 2A, HEMOCHROMATOSIS, TYPE 4, HYPERPROINSULINEMIA, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, ROTHMUND-THOMSON SYNDROME, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, KENNY-CAFFEY SYNDROME, TYPE 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, [PHENYLTHIOCARBAMIDE TASTING], FUHRMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, PITT-HOPKINS-LIKE SYNDROME 2, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, BAMFORTH-LAZARUS SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THYROID DYSHORMONOGENESIS 1, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, CORTISONE REDUCTASE DEFICIENCY 2, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, SERKAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WOLFRAM SYNDROME 2, LUSCAN-LUMISH SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, MECKEL SYNDROME 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, NIJMEGEN BREAKAGE SYNDROME, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, PREMATURE OVARIAN FAILURE 8, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMAGE SYNDROME, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, GLYCEROL KINASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?NARCOLEPSY 7, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), ?CHARGE SYNDROME, CHARGE SYNDROME, CHILD SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, BARTTER SYNDROME, TYPE 4B, DIGENIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ACRODERMATITIS ENTEROPATHICA, BARTTER SYNDROME, TYPE 1, MALOUF SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, THYROID DYSHORMONOGENESIS 4, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, ?JOUBERT SYNDROME 26, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, RITSCHER-SCHINZEL SYNDROME 1, PLEUROPULMONARY BLASTOMA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, FRASIER SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LEPRECHAUNISM, BLOOM SYNDROME, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 3, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, GITELMAN SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, THYROID DYSHORMONOGENESIS 5, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, OVARIAN DYSGENESIS 1, ?46XY SEX REVERSAL 5, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, ?HYPERPROLACTINEMIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, XERODERMA PIGMENTOSUM, GROUP B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, {HASHIMOTO THYROIDITIS}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, KABUKI SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, MARTSOLF SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PEROXISOME BIOGENESIS DISORDER 2B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, BOUCHER-NEUHAUSER SYNDROME, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PENDRED SYNDROME, ESTROGEN RESISTANCE

PEX5, GATA1, PDE4D, MARS2, CAV1, APPL1, IRX5, IGSF1, FSHB, PLAGL1, CNBP, BLK, MTNR1B, GNA11, SEMA3E, TBX19, GLI3, FXN, AP2S1, ALDOA, CYP11B2, KCNJ11, TBX3, ENPP1, PPARG, INSR, CAPN10, SLC5A5, MARS, SOX2, OTX2, PRKAR1A, LMNB2, HARS2, NSDHL, BTK, GJA1, G6PC3, FGA, PAX8, B2M, KISS1R, STK11, KIAA0556, HADH, FMR1, KIF1B, WT1, ITCH, PTRF, PNPLA2, PROK2, KISS1, PTPN11, HLA-DQA1, SDHB, HNF1A, MT-CO3, NBN, EIF2B3, ABCD1, BMP4, CDC73, POR, WNT4, MKS1, WFS1, HSD11B1, CYC1, GHSR, GATA3, SLC37A4, GNAI2, GAS1, LIPC, CUL7, GLI2, ARNT2, PCNT, PTCH1, WNT7A, EIF2B2, LRBA, GP1BA, MOG, KRAS, APOA1, FSHR, SCNN1G, NKX2-5, EIF2B4, AR, WRN, ANOS1, GNAS, TCF7L2, PCSK1, THRA, ERCC3, HS6ST1, GNRHR, CACNA1D, FGFR1, POU1F1, MT-ND6, HMGA1, POLG, LEP, LMNA, UBR1, LHX3, NNT, MSMO1, CYP11B1, CDKN1B, KCNJ1, CYP27B1, GK, SALL1, AARS2, CCND1, PTH, NR0B1, HSD17B3, SLC30A8, NRXN1, GPD2, PPP1R15B, AAAS, GLIS3, ICK, MEN1, IL6, GLUD1, GDNF, THRB, STEAP3, MAX, CACNA1S, IRS1, BSND, CASR, TSHR, IFNG, CYP21A2, NKX2-1, PROKR2, EIF2B1, TP63, ERCC8, DUSP6, PTPN22, FOXE1, RNF216, INS, LRP6, FANCM, NFKB2, SLC12A1, WNT3, DMXL2, CP, KCNJ5, TTR, RET, DDX3X, HFE2, SLC2A2, TG, IL2RA, SHOC2, HNF1B, RAB3GAP2, SETD2, HNF4A, SDHD, CUL4B, SCNN1B, IRS2, GHR, NEUROD1, STAT1, SLC19A2, CTDP1, PNPLA6, PITX2, SOX9, VHL, PPP1R3A, SERPINC1, NRAS, BMP2, FOXP3, HSD3B2, BRCA1, NDN, SLC16A1, SEMA3A, VDR, TSC2, SRD5A2, HTR1A, TANGO2, NONO, CISD2, PIEZO1, AKT2, MT-ND1, USP9X, LIPE, SLC26A4, MAPK8IP1, POLD1, RECQL4, MCM4, CTNS, CDKN1C, ATP7B, PTPN1, SIL1, PTEN, ITPR3, CLCNKA, HAMP, CLCNKB, LARS2, WDR11, TAF4B, LYZ, STAT3, B4GALNT1, SRD5A3, AGPAT2, AIRE, AIP, PEX1, STAG3, EIF2B5, USP8, SLC40A1, SLC29A3, POLR3A, HSD17B4, HDAC8, NDUFS1, STUB1, CDKAL1, RETN, SLC39A4, BMPR1B, MT-ND4, KIAA0196, LHCGR, NR5A1, TGFB1, IGF2, HYLS1, ATM, GATA4, KMT2D, EIF2AK3, GCGR, IER3IP1, SPRY4, TSC1, TBCE, CACNA1C, TMEM127, FOXL2, DUOX2, ENTPD1, SLC2A4, C10orf2, RBM28, CEP57, TP53, BLM, TAS2R38, ESR1, SEC23B, CBX2, SARS2, STAR, IL17RD, FOXD3, GATA6, ZMPSTE24, SNRPN, RAB40AL, MT-ND5, TRH, DUOXA2, IYD, MEF2A, CTLA4, ABCC8, HRAS, HLA-DQB1, TACR3, DNAJC3, PRKACA, GNRH1, PDX1, POLR3B, STX16, NDUFB11, NR3C1, TPO, PRLR, SHH, SLC12A3, CYP17A1, HFE, RAB23, DICER1, PIK3R1

TUBEROUS SCLEROSIS 2, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?HYPERPROLACTINEMIA

B2M, IFNG, APPL1, PRLR, STAT3, INS

{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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, {HASHIMOTO THYROIDITIS}, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MARTSOLF SYNDROME, PRADER-WILLI SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, HYPERPARATHYROIDISM, NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMAGE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BLOOM SYNDROME, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, 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, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, XERODERMA PIGMENTOSUM, GROUP B, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

PDE4D, CAV1, APPL1, TSC2, PLAGL1, CNBP, MTNR1B, GNAS, AP2S1, PPARG, BTK, B2M, STK11, LRBA, PNPLA2, BMP4, CDC73, IRS1, GATA3, GNAI2, CUL7, USP8, SOX9, KRAS, APOA1, IGF2, THRA, ERCC3, FGFR1, HMGA1, LEP, LMNA, AKT2, FSHR, CCND1, PTH, IFNG, ICK, GLIS3, MEN1, TSHR, TP63, INS, LRP6, PITX2, GATA1, DDX3X, SHH, GJA1, IL2RA, HNF1B, RAB3GAP2, SDHD, SCNN1B, STAT1, CASR, NFKB2, VHL, BMP2, KIF1B, FOXP3, NDN, VDR, NDUFS1, TP53, MAPK8IP1, MCM4, CDKN1C, HNF1A, PEX5, ITPR3, IL17RD, PCSK1, SLC40A1, TGFB1, PTPN11, ATM, GATA6, KMT2D, EIF2AK3, IER3IP1, SPRY4, STAT3, CEP57, BLM, IL6, CDKN1B, GATA4, TRH, CTLA4, HRAS, STX16, BMPR1B, ESR1, GCGR, HFE, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, {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}, CULLER-JONES SYNDROME, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FRASIER SYNDROME, HOLOPROSENCEPHALY-9, HYPERPROINSULINEMIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, FUHRMANN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?TETRA-AMELIA SYNDROME, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME

BMP4, CCND1, LEP, GLI2, IFNG, IL6, WNT4, WT1, STAT3, SERPINC1, BMP2, PTEN, SHH, WNT7A, INS, WNT3, TP53, TGFB1, LRP6, TCF7L2

{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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CORNELIA DE LANGE SYNDROME 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, JOHANSON-BLIZZARD SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, WOODHOUSE-SAKATI SYNDROME, ATAXIA-TELANGIECTASIA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, CULLER-JONES SYNDROME, LUSCAN-LUMISH SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, HOLOPROSENCEPHALY-9, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, PALLISTER-HALL SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LEOPARD SYNDROME 1

TSC2, DYRK1B, CNBP, PPARG, PPP1R3A, PRKAR1A, RECQL4, STK11, ITCH, PPP1R15B, NBN, BMP4, CDC73, IRS1, SALL1, CYC1, GNAI2, CUL7, NONO, GCM2, CHD7, KRAS, AR, WRN, THRA, ERCC3, HMGA1, SDHB, LMNA, CDKN1B, CCND1, NR0B1, ICK, MEN1, GLUD1, MAX, TP63, INS, ABCC8, GATA1, DIS3L2, SHOC2, HNF1B, SETD2, SDHD, UBR1, NEUROD1, STAT1, CTDP1, NFKB2, VHL, HNF4A, BMP2, BRCA1, VDR, NDUFS1, TP53, IRS2, GPD2, GLI3, POLD1, ERCC8, MCM4, CDKN1C, GLI2, STAT3, AGPAT2, CUL4B, POLR3A, HDAC8, STUB1, NR3C1, MT-ND4, NR5A1, TGFB1, PTPN11, ATM, GATA4, KMT2D, TSC1, PRKACA, CACNA1C, INSR, PCNT, BLM, CBX2, PIK3R1, MARS, MT-ND5, MEF2A, PTEN, HRAS, POLG, POLR3B, MT-ND1, BMPR1B, ESR1, NDUFB11, PDX1, DCAF17

{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}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC

INS, APOA1, LEP, PPARG, IL6

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, PENDRED SYNDROME, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WOLFRAM SYNDROME 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, BOUCHER-NEUHAUSER SYNDROME, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, HEMOCHROMATOSIS, TYPE 4, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CORTISONE REDUCTASE DEFICIENCY 2, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, BARTTER SYNDROME, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLYCOGEN STORAGE DISEASE IC, CHILD SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ACRODERMATITIS ENTEROPATHICA, HYPERTHYROIDISM, NONAUTOIMMUNE, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, GITELMAN SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, ULNAR-MAMMARY SYNDROME, HOLOPROSENCEPHALY-7, VON WILLEBRAND DISEASE, PLATELET-TYPE, THYROID DYSHORMONOGENESIS 5, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ESTROGEN RESISTANCE

TSC2, CAV1, APPL1, IGSF1, PDE4D, KISS1, GP1BA, GNAS, GLI3, FXN, KCNJ11, TBX3, ENPP1, PPARG, PRKAR1A, EIF2B2, GJA1, G6PC3, B2M, KISS1R, STK11, FMR1, PNPLA2, BMP4, POR, IRS1, CDKAL1, HSD11B1, GHSR, GNAI2, CUL7, ARNT2, PTCH1, SHOC2, SRD5A3, KRAS, APOA1, SLC26A4, WFS1, AR, SLC39A4, PTRF, FGFR1, POU1F1, BLK, HMGA1, LEP, LMNA, LHX3, MSMO1, NR0B1, FSHR, AARS2, CCND1, PTH, IFNG, HSD17B3, NKX2-1, MEN1, PTPN1, CYP21A2, TP63, SEC23B, INS, LRP6, SLC12A1, TTR, RET, DDX3X, SLC2A2, SOX9, HNF1B, SCNN1B, STAT1, CASR, PNPLA6, VHL, HNF4A, BMP2, FOXP3, HSD3B2, NDN, VDR, SRD5A2, TP53, IRS2, PIEZO1, SCNN1G, MAPK8IP1, NSDHL, BSND, SLC37A4, HNF1A, TSHR, PTEN, ITPR3, HAMP, BTK, LYZ, STAT3, AGPAT2, SERPINC1, SLC40A1, POLR3A, HDAC8, STUB1, BMPR1B, EIF2B1, NR5A1, TGFB1, IGF2, PTPN11, GATA6, EIF2AK3, GCGR, IER3IP1, SPRY4, TSC1, PRKACA, CACNA1C, INSR, FOXL2, DUOX2, CEP57, LIPE, ALDOA, IL6, STAR, GATA4, ZMPSTE24, CACNA1S, TRH, DUOXA2, CTNS, HRAS, CISD2, DNAJC3, GNRH1, POLR3B, STX16, NR3C1, ESR1, PIK3R1, SLC12A3, CYP17A1, HFE, SHH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {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}, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPARATHYROIDISM 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, PEROXISOME BIOGENESIS DISORDER 2B, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, CULLER-JONES SYNDROME, FUHRMANN SYNDROME, CAMURATI-ENGELMANN DISEASE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, LIPOID ADRENAL HYPERPLASIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PALLISTER-HALL SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, TIMOTHY SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PERRAULT SYNDROME 5, RABSON-MENDENHALL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, THYROTROPIN-RELEASING HORMONE DEFICIENCY

PTCH1, TSC2, CAV1, POLR3A, APOA1, GLI2, KISS1, RETN, AR, FSHR, GNAS, TGFB1, MAPK8IP1, TCF7L2, INSR, MEF2A, STAT1, KRAS, KCNJ11, CASR, GDNF, PMM2, SPRY4, BMP2, PEX5, CACNA1C, LEP, GNRH1, AKT2, WNT7A, EIF2B2, STAR, BTK, SEMA3A, ESR1, B2M, C10orf2, CCND1, CDKN1B, GATA4, INS, TRH, RET, IL6, HNF1A, GLI3, TP53, ABCC8, HRAS, GJA1, CDC73, POR, PTPN1, IFNG, IRS1, ITPR3, BMPR1B, IRS2, GLUD1, GCGR, GNAI2, CYP17A1, LRP6, CACNA1D, SHH

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HARTSFIELD SYNDROME, {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}, HYPERPARATHYROIDISM 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, HYPERPROINSULINEMIA, PEROXISOME BIOGENESIS DISORDER 2B, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MENTAL RETARDATION, X-LINKED 102, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, GLYCEROL KINASE DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, GLUCOCORTICOID DEFICIENCY 4, PREMATURE OVARIAN FAILURE 7, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, 46XY SEX REVERSAL 3, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ADRENAL CORTICAL CARCINOMA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PERRAULT SYNDROME 5, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

PTCH1, SOX9, EIF2B1, DDX3X, FGFR1, GJA1, NDUFS1, SDHD, PEX5, CYP11B1, MT-ND4, NR5A1, MAPK8IP1, ATM, CYP11B2, CCND1, PPARG, GLUD1, MT-ND6, CISD2, LEP, HSD3B2, AKT2, NNT, MSMO1, CYP27B1, GK, GNAI2, HADH, PTH, TP53, IRS2, MT-ND1, SDHB, MT-CO3, MT-ND5, AR, POLG, CDC73, PTPN1, TSHR, CYC1, ITPR3, GPD2, NR3C1, TP63, NDUFB11, C10orf2, INS, IRS1, PIK3R1

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {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}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, PREMATURE OVARIAN FAILURE 8, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ESTROGEN RESISTANCE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, AXENFELD-RIEGER SYNDROME, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

GATA1, SOX9, STAG3, SOX2, STUB1, AR, TCF7L2, NEUROD1, STAT1, PITX2, PPARG, STAT3, HMGA1, OTX2, BMP2, TP53, VDR, ESR1, CCND1, CDKN1B, FOXD3, GATA4, NKX2-1, MEF2A, NBN, ITCH, ZFP57, TP63, GATA3, INS, THRB, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, {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}, CULLER-JONES SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FRASIER SYNDROME, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, CORTISONE REDUCTASE DEFICIENCY 1, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, VON WILLEBRAND DISEASE, PLATELET-TYPE, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MARINESCO-SJOGREN SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, THYROID DYSHORMONOGENESIS 3, PRADER-WILLI SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE XII, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, RABSON-MENDENHALL SYNDROME, SERKAL SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

FGA, SOX9, CAV1, PPARG, GJA1, APOA1, WNT7A, GP1BA, WNT3, TGFB1, TCF7L2, INSR, GATA6, ALDOA, EIF2AK3, PITX2, VHL, TG, LEP, PTPN11, NDN, BMP2, TP53, PCSK1, ESR1, B2M, CCND1, IL6, PTH, CDKN1B, WT1, GATA4, H6PD, WNT4, BMP4, DNAJC3, SIL1, GLI2, ITPR3, STAT3, SHH, INS, LRP6, PTEN, GCGR

WOODHOUSE-SAKATI SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {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}, 3-M SYNDROME 1, CULLER-JONES SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CAMURATI-ENGELMANN DISEASE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, JOHANSON-BLIZZARD SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BLOOM SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, NIJMEGEN BREAKAGE SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, PERLMAN SYNDROME, HOLOPROSENCEPHALY-9, LEPRECHAUNISM, HYPERPROINSULINEMIA, PEUTZ-JEGHERS SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, TUBEROUS SCLEROSIS-1, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARNEY COMPLEX, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PREMATURE OVARIAN FAILURE 7, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?46XY SEX REVERSAL 5, ADRENAL CORTICAL CARCINOMA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, 46XY SEX REVERSAL 3, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PALLISTER-HALL SYNDROME, LUSCAN-LUMISH SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, XERODERMA PIGMENTOSUM, GROUP B, FANCONI ANEMIA, COMPLEMENTATION GROUP A, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

GATA1, POLR3B, GCM2, DIS3L2, IRS1, CHD7, POLR3A, TP53, TSC2, STUB1, CNBP, SETD2, AR, CUL4B, NR5A1, TGFB1, WRN, UBR1, NEUROD1, ATM, STAT1, ERCC3, CCND1, CTDP1, POLD1, VHL, TP63, PRKACA, HMGA1, INSR, PRKAR1A, MCM4, BRCA1, ERCC8, BMP2, NR0B1, BLM, VDR, ESR1, STK11, MEF2A, CBX2, THRA, CDKN1B, NONO, POLG, ICK, GATA4, MEN1, DYRK1B, KMT2D, GLI3, NBN, RECQL4, HRAS, MAX, GLUD1, ITCH, CDC73, KRAS, PTEN, ABCC8, IRS2, TSC1, PIK3R1, PTPN11, INS, STAT3, CUL7, MARS, GLI2, DCAF17, PCNT

HARTSFIELD SYNDROME, {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}, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PLEUROPULMONARY BLASTOMA, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FRAGILE X TREMOR/ATAXIA SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PITUITARY ADENOMA, ACTH-SECRETING, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2B, TIMOTHY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

SOX2, TP53, NKX2-5, AR, IGF2, TGFB1, MAPK8IP1, STAT1, CACNA1D, FGFR1, PEX5, CACNA1C, LEP, SEMA3A, GJA1, HTR1A, FMR1, GATA4, INS, RET, GDNF, GLI3, PTEN, HRAS, IRS1, GLUD1, PIK3R1, GNAI2, CYP17A1, DICER1, SHH

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, {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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DIGEORGE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PANHYPOPITUITARISM, X-LINKED, FANCONI ANEMIA, COMPLEMENTATION GROUP E, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, {HASHIMOTO THYROIDITIS}, PERRAULT SYNDROME 4, KOWARSKI SYNDROME, BOUCHER-NEUHAUSER SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL SYNDROME, LARON DWARFISM, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, XERODERMA PIGMENTOSUM, GROUP B, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, WOODHOUSE-SAKATI SYNDROME, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MODY, TYPE II, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PANCREATIC AND CEREBELLAR AGENESIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PERRAULT SYNDROME 3, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, KENNY-CAFFEY SYNDROME, TYPE 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SHORT SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, BAMFORTH-LAZARUS SYNDROME, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, PANCREATIC AGENESIS 1, 3-M SYNDROME 1, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, WOLFRAM SYNDROME 2, LUSCAN-LUMISH SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, MECKEL SYNDROME 1, TIMOTHY SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MULTIPLE ENDOCRINE NEOPLASIA IIA, HOLOPROSENCEPHALY-9, MULLERIAN APLASIA AND HYPERANDROGENISM, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, PREMATURE OVARIAN FAILURE 8, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, PERLMAN SYNDROME, PERRAULT SYNDROME 5, ?CHARGE SYNDROME, CHARGE SYNDROME, BARTTER SYNDROME, TYPE 4B, DIGENIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, HYPERTHYROIDISM, NONAUTOIMMUNE, FRAGILE X TREMOR/ATAXIA SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, ?PRECOCIOUS PUBERTY, CENTRAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, RITSCHER-SCHINZEL SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ALSTROM SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIDDLE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PLEUROPULMONARY BLASTOMA, PANCREATIC AGENESIS 2, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OVARIAN DYSGENESIS 4, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?46XY SEX REVERSAL 5, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, MARTSOLF SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, SECKEL SYNDROME 7, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PENDRED SYNDROME

CCBE1, GATA1, TSC2, USP8, CAV1, APPL1, DYRK1B, KISS1, CNBP, PRKACA, MTNR1B, GNA11, GNAS, GLI3, AP2S1, CYP11B2, DDX3X, TBX3, GCK, PPARG, MARS, SOX2, OTX2, PRKAR1A, MCM4, HARS2, ERCC8, PROP1, TAF4B, FGA, B2M, FOXL2, LHCGR, LHX3, LIPE, KIF1B, WT1, ITCH, FANCA, NDUFB11, PROK2, SHOC2, SDHB, MT-CO3, NBN, PCNT, BMP4, CDC73, POR, IRS1, MKS1, EIF2B4, POU1F1, GATA3, GNAI2, LIPC, CUL7, NONO, ARNT2, MCM8, WNT7A, HSD17B4, CHD7, ALMS1, RSPO1, NFKB2, APOA1, GLI2, SCNN1G, PEX5, NKX2-5, CDKAL1, AR, IGF2, SEMA3E, TCF7L2, THRA, PTF1A, CBX2, FSHB, CACNA1D, FGFR1, GHSR, SOX3, AVP, HMGA1, POLG, LEP, LMNA, UBR1, AKT2, MSMO1, CDKN1B, KCNJ1, ESR1, FSHR, HLA-DQA1, CCND1, PTH, NR0B1, SLC30A8, GPD2, NRAS, AAAS, GLIS3, ICK, MEN1, GLUD1, THRB, MAX, BSND, CASR, TSHR, LARS2, KCNJ11, NKX2-1, PNPLA6, DUSP6, FOXE1, INS, ABCC8, LRP6, FANCM, NIN, PAX8, WNT3, DMXL2, DIS3L2, KCNJ5, TTR, FANCE, SHH, GJA1, TG, GCM2, HNF1B, RAB3GAP2, SETD2, HNF4A, SDHD, CUL4B, SCNN1B, ARX, GHR, NEUROD1, STAT1, KRAS, IARS2, CTDP1, ITPR3, PITX2, SOX9, VHL, PPP1R3A, USP9X, CISD2, BMP2, FOXP3, CLPP, BRCA1, NDN, SEMA3A, PCSK1, NDUFS1, TP53, IRS2, MT-ND1, SLC26A4, FMR1, LHX4, IFNG, POLD1, EIF2B2, LMNB2, CDKN1C, HNF1A, PTPN1, PTEN, XRCC4, CLCNKA, HAMP, CLCNKB, BTK, LYZ, STAT3, CYC1, VDR, HESX1, STAG3, EIF2B5, EIF2B1, STX16, POLR3A, MCM9, HDAC8, STUB1, SEC23B, BMPR1B, MT-ND4, KIAA0196, STK11, NR5A1, TGFB1, WRN, PTPN11, ATM, GATA4, KMT2D, DCAF17, DICER1, SPRY4, TP63, TBCE, CACNA1C, INSR, RECQL4, SLC2A4, EIF2B3, KISS1R, CEP57, KIF7, BLM, ALDOA, TBX1, IL6, STAR, SALL1, GATA6, PTRF, SNRPN, CACNA1S, MT-ND5, TRH, RET, ERCC3, MEF2A, CTLA4, PDE4D, HRAS, HLA-DQB1, WNT4, DNAJC3, GNRH1, PDX1, POLR3B, MAPK8IP1, PPP1R15B, NR3C1, TSC1, PIK3R1, C10orf2, GH1, HFE, NSD1, GCGR

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {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}, PSEUDOPSEUDOHYPOPARATHYROIDISM, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, HARTSFIELD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MULTIPLE ENDOCRINE NEOPLASIA IIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?TETRA-AMELIA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LIPOID ADRENAL HYPERPLASIA, PREMATURE OVARIAN FAILURE 7, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED 102, GLUCOCORTICOID RESISTANCE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ULNAR-MAMMARY SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SHORT SYNDROME, FUHRMANN SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FRAGILE X TREMOR/ATAXIA SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, LARON DWARFISM, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, PITUITARY ADENOMA, ACTH-SECRETING, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

FGA, WNT7A, CAV1, FSHR, BMPR1B, AR, IGF2, TGFB1, NR5A1, GHR, INSR, THRA, DDX3X, TBX3, FGFR1, STAT3, CACNA1C, LEP, FOXP3, PTPN11, WNT3, PRKAR1A, BMP2, STAR, BTK, VDR, ESR1, B2M, GNAI2, IL6, PTH, FMR1, STAT1, GNAS, NKX2-1, RET, MAPK8IP1, HRAS, PTPN1, CASR, TSHR, IFNG, IRS1, ITPR3, NR3C1, TP63, SHH, LYZ, LRP6, PTEN, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, {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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERRAULT SYNDROME 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?HYPERPROLACTINEMIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?PERRAULT SYNDROME 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PERRAULT SYNDROME 3, PREMATURE OVARIAN FAILURE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT SYNDROME, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CORTISONE REDUCTASE DEFICIENCY 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, CULLER-JONES SYNDROME, MODY, TYPE II, HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, PRADER-WILLI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, PERRAULT SYNDROME 5, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PENDRED'S SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1

LMNA, CAV1, GP1BA, TBX19, PPARG, HARS2, FGA, B2M, HADH, WT1, H6PD, MARS2, BMP4, CDC73, IRS1, GNAI2, WNT4, PTCH1, WNT7A, APOA1, GLI2, SLC26A4, AR, IGF2, TCF7L2, CCND1, AMACR, HMGA1, LEP, AKT2, HS6ST1, PTH, IFNG, NKX2-1, GLUD1, CASR, LARS2, TP63, INS, LRP6, PITX2, PAX8, CP, ALDOA, GJA1, IL2RA, SOX9, SNRPN, NEUROD1, STAT1, IARS2, GCK, VHL, TG, BMP2, HRAS, NDN, PCSK1, NDUFS1, TANGO2, GLI3, POLD1, DNAJC3, SIL1, PEX5, ITPR3, STAT3, SERPINC1, IGF2BP2, HSD17B4, NR5A1, TGFB1, WNT3, PTPN11, GATA4, EIF2AK3, GCGR, PRLR, FXN, INSR, SLC2A4, TP53, IL6, CDKN1B, GATA6, TRH, PTEN, CLPP, IRS2, SARS2, POLR3B, PNPLA2, NR3C1, ESR1, NDUFB11, PIK3R1, C10orf2, HFE, SHH

WOODHOUSE-SAKATI SYNDROME, {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}, 3-M SYNDROME 1, CULLER-JONES SYNDROME, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ATAXIA-TELANGIECTASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?46XY SEX REVERSAL 5, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERLMAN SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ADRENAL CORTICAL CARCINOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), JOHANSON-BLIZZARD SYNDROME

ATM, GCM2, MCM4, CUL4B, CUL7, CCND1, GLI2, CBX2, TP53, VHL, IRS2, STUB1, HMGA1, ESR1, DCAF17, BRCA1, AR, ERCC8, DIS3L2, NR0B1, UBR1

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, PREMATURE OVARIAN FAILURE 7, {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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, MICROPHTHALMIA, SYNDROMIC 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIB, PENDRED SYNDROME, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, CORNELIA DE LANGE SYNDROME 5, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, KOWARSKI SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, VELOCARDIOFACIAL SYNDROME, LARON DWARFISM, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, JOHANSON-BLIZZARD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, WOODHOUSE-SAKATI SYNDROME, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, SECKEL SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SHORT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, HOLOPROSENCEPHALY-2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, BAMFORTH-LAZARUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, 3-M SYNDROME 1, CULLER-JONES SYNDROME, LUSCAN-LUMISH SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ENDOCRINE-CEREBROOSTEODYSPLASIA, MODY, TYPE II, HOLOPROSENCEPHALY-9, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, PREMATURE OVARIAN FAILURE 8, DIGEORGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PREMATURE OVARIAN FAILURE 10, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, RESTRICTIVE DERMOPATHY, LETHAL, XERODERMA PIGMENTOSUM, GROUP B, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, PERLMAN SYNDROME, PERRAULT SYNDROME 5, ?CHARGE SYNDROME, CHARGE SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, HEMOCHROMATOSIS TYPE 1, BORJESON-FORSSMAN-LEHMANN SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, IMAGE SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PSEUDOHYPOPARATHYROIDISM IA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PLEUROPULMONARY BLASTOMA, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, 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, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ULNAR-MAMMARY SYNDROME, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, ?HYPERPROLACTINEMIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

DYRK1B, USP8, CAV1, PDE4D, KISS1, CNBP, GNAS, TBX19, GLI3, AP2S1, CYP11B2, FANCE, TBX3, PPARG, MARS, OTX2, PRKAR1A, NEUROG3, HARS2, RECQL4, GJA1, TAF4B, B2M, LHCGR, LHX3, HADH, FMR1, WT1, SIX3, BCOR, FANCA, NDUFB11, FANCM, NBN, ABCD1, BMP4, CDC73, IRS1, SALL1, GHSR, GATA3, GNAI2, THRB, PTEN, MCM8, SHOC2, CHD7, XRCC4, SOX2, NFKB2, APOA1, GLI2, SLC26A4, NKX2-5, AR, IGF2, TCF7L2, PCSK1, THRA, ERCC3, IL6, FGFR1, POU1F1, NSD1, HMGA1, LEP, LMNA, UBR1, AKT2, PTRF, CDKN1B, FSHR, CCND1, PTH, IFNG, ICK, NKX2-1, MEN1, GLUD1, GDNF, CUL7, MAX, PTPN1, KCNJ11, AAAS, TP63, ERCC8, DUSP6, FOXE1, INS, ABCC8, GCK, PAX8, GATA1, DIS3L2, TTR, DDX3X, GNA11, RBM28, SOX9, SETD2, CUL4B, ARX, GHR, NEUROD1, STAT1, CASR, CTDP1, NIN, VHL, KIF1B, HNF4A, BMP2, FOXP3, BRCA1, NDN, KRAS, VDR, TSC2, WRN, HTR1A, TP53, MAPK8IP1, POLD1, EIF2B2, LMNB2, CDKN1C, HNF1A, TSHR, NONO, ITPR3, PAX4, GNRH1, BTK, LYZ, STAT3, ITCH, AIP, STAG3, EIF2B1, IGF2BP2, ZFP57, POLR3A, HDAC8, NDUFS1, STUB1, RETN, BMPR1B, EIF2B5, STK11, NR5A1, TGFB1, PHF6, PTPN11, ATM, GATA4, KMT2D, EIF2AK3, DCAF17, DICER1, PRLR, PRKACA, INSR, SLC2A4, PITX2, TSC1, TANGO2, BLM, ALDOA, MCM4, TBX1, CBX2, SARS2, STAR, FOXD3, GATA6, ZMPSTE24, SNRPN, TRH, RET, RNF113A, MEF2A, HRAS, IRS2, DNAJC3, NR0B1, POLR3B, STX16, PPP1R15B, NR3C1, ESR1, PIK3R1, C10orf2, GH1, PEX5, SHH

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {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}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOPSEUDOHYPOPARATHYROIDISM, HYPERPARATHYROIDISM 1, ?PERRAULT SYNDROME 2, PITUITARY ADENOMA, ACTH-SECRETING, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HARTSFIELD SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, HYPERPROINSULINEMIA, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PERRAULT SYNDROME 3, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, MENTAL RETARDATION, X-LINKED 102, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, GLYCEROL KINASE DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, GLUCOCORTICOID DEFICIENCY 4, PERRAULT SYNDROME 5, SHORT SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PREMATURE OVARIAN FAILURE 7, RESTRICTIVE DERMOPATHY, LETHAL, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, OVARIAN DYSGENESIS 1, MARINESCO-SJOGREN SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, PRADER-WILLI SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ADRENAL CORTICAL CARCINOMA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, MANDIBULOACRAL DYSPLASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, WOLFRAM SYNDROME 2, MALOUF SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2B, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, 46XY SEX REVERSAL 3, PERRAULT SYNDROME 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, PSEUDOHYPOPARATHYROIDISM IC, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ESTROGEN RESISTANCE

PTCH1, LMNA, MT-ND4, DDX3X, FGFR1, GJA1, TP53, GK, SDHD, PEX5, CYP11B1, EIF2B1, AR, GNAS, NR5A1, SNRPN, ATM, FXN, GATA4, CYP11B2, KCNJ1, IARS2, STAT1, PPARG, STAT3, MT-ND6, HMGA1, CISD2, LEP, ESR1, IL6, AKT2, NNT, MSMO1, LIPE, CCND1, CYP27B1, FSHR, BRCA1, C10orf2, HADH, PTH, STAR, MT-ND1, IRS2, IRS1, GPD2, MARS2, HSD3B2, SDHB, GLUD1, MT-CO3, POLD1, CLPP, PTPN1, POLG, CDC73, TSHR, SARS2, HARS2, LARS2, POLR3B, ITPR3, MT-ND5, NR3C1, POLG2, TP63, PPP1R3A, NDUFB11, SIL1, GNAI2, MAPK8IP1, INS, NDUFS1, CYC1, PIK3R1

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {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}, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPARATHYROIDISM 1, ULNAR-MAMMARY SYNDROME, KOWARSKI SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COCKAYNE SYNDROME, TYPE A, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROPHTHALMIA, SYNDROMIC 6, PANCREATIC AGENESIS 2, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, HARTSFIELD SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PANHYPOPITUITARISM, X-LINKED, FRAGILE X TREMOR/ATAXIA SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, ESTROGEN RESISTANCE, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, PANCREATIC AND CEREBELLAR AGENESIS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PALLISTER-HALL SYNDROME, ?WEBB-DATTANI SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, XERODERMA PIGMENTOSUM, GROUP B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LARON DWARFISM, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, RENAL CYSTS AND DIABETES SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, BAMFORTH-LAZARUS SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

GATA1, HESX1, TTR, SHH, FGFR1, POLR3A, TP53, SOX9, HNF1B, NKX2-5, OTX2, NR3C1, AR, VHL, PTRF, GHR, STAT1, ERCC3, TBX3, GJA1, PPARG, STAT3, SOX3, HMGA1, SOX2, BMP2, FOXP3, TCF7L2, LHX3, ERCC8, PROP1, CDKN1B, TAF4B, VDR, ESR1, BRCA1, CCND1, FMR1, THRA, ICK, GATA4, NKX2-1, HNF4A, POU1F1, MEN1, PTF1A, GLI3, HRAS, GATA6, BMP4, HNF1A, AKT2, GH1, SALL1, BMPR1B, TP63, ARNT2, FOXE1, INS, PITX2, PAX8

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERPARATHYROIDISM 1, LUSCAN-LUMISH SYNDROME, CAMURATI-ENGELMANN DISEASE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, KOWARSKI SYNDROME, THYROID HORMONE RESISTANCE, KENNY-CAFFEY SYNDROME, TYPE 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, FRASIER SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, MULTIPLE ENDOCRINE NEOPLASIA IIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BLOOM SYNDROME, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, PREMATURE OVARIAN FAILURE 8, PEROXISOME BIOGENESIS DISORDER 2B, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 6, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED 102, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ?46XY SEX REVERSAL 5, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP E, RESTRICTIVE DERMOPATHY, LETHAL, ROTHMUND-THOMSON SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MYOTONIC DYSTROPHY 2, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, PERLMAN SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, CORNELIA DE LANGE SYNDROME 5, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MALOUF SYNDROME, MANDIBULOACRAL DYSPLASIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, KABUKI SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, COCKAYNE SYNDROME, TYPE A, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {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}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ESTROGEN RESISTANCE

GATA1, SOX9, CUL4B, MEN1, FANCE, ZFP57, POLR3A, HDAC8, DIS3L2, STUB1, CNBP, OTX2, SETD2, AR, STAG3, WRN, TGFB1, NONO, TCF7L2, NEUROD1, ATM, FAM111A, STAT1, APOA1, ERCC3, DDX3X, NBN, PITX2, PPARG, STAT3, HMGA1, BMP2, LMNA, FOXP3, BMP4, BRCA1, GATA3, ERCC8, SOX2, BLM, VDR, ESR1, CCND1, CBX2, FOXD3, CDKN1B, SMARCAL1, WT1, THRA, GATA4, NKX2-1, RET, KMT2D, MEF2A, TP53, POLD1, RECQL4, MAX, POLG, CDC73, FANCA, PTEN, GH1, SALL1, NR3C1, TP63, DUSP6, INS, THRB, FANCM, PEX5, PIK3R1, PCNT

PREMATURE OVARIAN FAILURE 7, HARTSFIELD SYNDROME, {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}, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIDDLE SYNDROME, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MULTIPLE ENDOCRINE NEOPLASIA IIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {HASHIMOTO THYROIDITIS}, 46XY SEX REVERSAL 3, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1

SERPINC1, CAV1, FGFR1, KRAS, APOA1, SCNN1G, SALL1, AR, SCNN1B, TGFB1, NR5A1, PTPN11, STAT1, IL6, PPARG, OTX2, HMGA1, LEP, FOXP3, SLC2A4, BMP2, GJA1, BTK, FGA, PAX8, B2M, CCND1, IL2RA, IFNG, WT1, RET, TP53, CTLA4, BMP4, PTEN, NR3C1, STAT3, SHH, LYZ, INS, PIK3R1

NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, OVARIAN DYSGENESIS 4, ?PREMATURE OVARIAN FAILURE 10

MCM9, MCM8, MCM4

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {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}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPARATHYROIDISM 1, KOWARSKI SYNDROME, THYROID HORMONE RESISTANCE, KENNY-CAFFEY SYNDROME, TYPE 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, FRASIER SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, PREMATURE OVARIAN FAILURE 8, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AXENFELD-RIEGER SYNDROME, TYPE 1, NIJMEGEN BREAKAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?46XY SEX REVERSAL 5, ROTHMUND-THOMSON SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PERLMAN SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULTIPLE ENDOCRINE NEOPLASIA 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, KABUKI SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

GATA1, SOX9, STAG3, ZFP57, SOX2, DIS3L2, STUB1, SALL1, AR, CUL4B, TCF7L2, NEUROD1, ATM, FAM111A, STAT1, KMT2D, CCND1, PITX2, PPARG, OTX2, HMGA1, BMP2, BRCA1, RECQL4, TP53, VDR, ESR1, CBX2, FOXD3, CDKN1B, WT1, GATA4, NKX2-1, MEN1, MEF2A, NBN, BMP4, PTEN, GH1, TP63, GATA3, INS, STAT3, THRB, NONO, PIK3R1

HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {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}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WOLCOTT-RALLISON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, MALOUF SYNDROME, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

LMNA, TTR, AR, CAV1, PPARG, KRAS, TP53, STUB1, CNBP, EIF2B1, VHL, IGF2, TGFB1, PTPN11, STAT1, IL6, EIF2AK3, SPRY4, BMP2, PRKACA, HMGA1, LEP, GJA1, FGA, ESR1, B2M, FGFR1, CCND1, PTH, IFNG, KIF1B, IRS2, PNPLA2, RET, MAPK8IP1, HRAS, BMP4, PTPN1, GNRH1, PTEN, STX16, NR3C1, STAT3, SHH, INS, LRP6, PIK3R1

HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {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}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WOLCOTT-RALLISON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, RESTRICTIVE DERMOPATHY, LETHAL, CAMURATI-ENGELMANN DISEASE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MYOTONIC DYSTROPHY 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, MALOUF SYNDROME, LEOPARD SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

LMNA, TTR, AR, CAV1, PPARG, KRAS, TP53, STUB1, CNBP, EIF2B1, VHL, IGF2, TGFB1, PTPN11, STAT1, IL6, EIF2AK3, SPRY4, BMP2, PRKACA, HMGA1, LEP, GJA1, FGA, ESR1, B2M, FGFR1, CCND1, IFNG, KIF1B, IRS2, PNPLA2, RET, MAPK8IP1, HRAS, BMP4, PTPN1, GNRH1, PTEN, STX16, NR3C1, STAT3, SHH, INS, LRP6, PIK3R1

{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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JOHANSON-BLIZZARD SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BECKWITH-WIEDEMANN SYNDROME, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, KENNY-CAFFEY SYNDROME, TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MARTSOLF SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, TIMOTHY SYNDROME, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, MULTIPLE ENDOCRINE NEOPLASIA 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, IMAGE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CARNEY COMPLEX, TYPE 1, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, XERODERMA PIGMENTOSUM, GROUP B, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1

GATA1, SOX9, CUL4B, RET, CAV1, IGF2BP2, PPARG, SOX2, TP53, LMNA, STUB1, PEX5, NKX2-5, PTEN, TBCE, EIF2B5, AR, KRAS, TGFB1, UBR1, ATM, STAT1, NRXN1, MARS, ALDOA, CASR, CTDP1, BMPR1B, GJA1, VHL, STAT3, USP9X, CACNA1C, LEP, PRKAR1A, MCM4, EIF2B2, PITX2, CEP57, CDKN1B, ESR1, NDUFS1, LYZ, CCND1, TANGO2, MARS2, ITCH, ICK, GATA4, IRS1, PPP1R15B, KISS1, MEN1, EIF2AK3, ERCC3, CTNS, KISS1R, HRAS, BMP4, GLUD1, CDKN1C, FANCA, PTPN1, PRKACA, IFNG, POLR3B, ITPR3, RAB3GAP2, NR3C1, GNRH1, TP63, GATA3, SHH, C10orf2, PTPN11, INS, PDE4D, USP8, PIK3R1

OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER

EIF2B2, EIF2B1, EIF2B5, EIF2B4, EIF2B3

?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {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}, CAMURATI-ENGELMANN DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], HYPERPROINSULINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ADRENAL CORTICAL CARCINOMA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WERNER SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, PALLISTER-HALL SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, HYPERTHYROIDISM, NONAUTOIMMUNE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

CP, APOA1, SERPINC1, AR, WRN, TGFB1, IGF2, PTPN11, IL6, CASR, PPARG, LEP, BMP2, TP53, FGA, B2M, CCND1, IL2RA, IFNG, GLI3, TSHR, GNRH1, PTEN, ESR1, LYZ, INS

{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}, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INTERSTITIAL LUNG AND LIVER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LARON DWARFISM, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PITUITARY ADENOMA, ACTH-SECRETING, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, BANNAYAN-RILEY-RUVALCABA SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, ADRENAL CORTICAL CARCINOMA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, MARINESCO-SJOGREN SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, THYROID DYSHORMONOGENESIS 3, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, {HASHIMOTO THYROIDITIS}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

GATA1, PCSK1, SOX9, MARS2, CAV1, SHH, APPL1, SOX2, GJA1, APOA1, B2M, NKX2-5, PTEN, GP1BA, IGF2, KIF1B, TGFB1, MAPK8IP1, GHR, INSR, ATM, FXN, STAT1, ALDOA, CASR, TCF7L2, TBX19, MTNR1B, PPARG, OTX2, PRKACA, CACNA1C, LEP, PRKAR1A, BMP4, AKT2, BMP2, DMXL2, IFNG, BTK, FGA, FSHR, HLA-DQA1, CCND1, IL2RA, MARS, TG, SLC30A8, AP2S1, PITX2, GATA4, GNAS, GLIS3, RET, IL6, GLI3, TP53, CTLA4, LRP6, HRAS, GATA6, AIRE, HLA-DQB1, PTPN1, TSHR, SLC2A4, IRS1, STX16, STAT3, GATA3, SIL1, SEC23B, PTPN11, INS, RAB23, GLI2, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, {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}, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE IC, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LYMPHEDEMA, HEREDITARY, III, BOUCHER-NEUHAUSER SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MANDIBULOACRAL DYSPLASIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HARTSFIELD SYNDROME, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FUHRMANN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, CORTISONE REDUCTASE DEFICIENCY 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WOLFRAM SYNDROME 2, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, PRADER-WILLI SYNDROME, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, ?WEBB-DATTANI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, MARINESCO-SJOGREN SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, THYROID DYSHORMONOGENESIS 3, CHILD SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CORTISONE REDUCTASE DEFICIENCY 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, THYROID DYSHORMONOGENESIS 5, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE

TSC2, CAV1, SPRY4, PDE4D, GP1BA, TBX19, GLI3, PPARG, OTX2, PRKAR1A, EIF2B2, G6PC3, FGA, B2M, STK11, FMR1, WT1, H6PD, BMP4, POR, IRS1, CDKAL1, HSD11B1, GNAI2, WNT4, ARNT2, WNT7A, SRD5A3, KRAS, APOA1, FOXL2, WFS1, AR, TCF7L2, FGFR1, HMGA1, LEP, LMNA, MSMO1, CDKN1B, FSHR, HLA-DQA1, CCND1, PTH, NR0B1, HSD17B3, PTPN1, IFNG, CYP21A2, TP63, SEC23B, INS, LRP6, BSCL2, RET, ALDOA, GJA1, SOX9, STAT1, CASR, PITX2, VHL, TG, HNF4A, BMP2, FOXP3, HRAS, NDN, PCSK1, SRD5A2, TP53, HLA-DQB1, PIEZO1, MAPK8IP1, NSDHL, SLC37A4, TSHR, SIL1, PTEN, ITPR3, HAMP, IRS2, BTK, LYZ, STAT3, AGPAT2, VDR, SERPINC1, SLC40A1, STUB1, BMPR1B, EIF2B1, NR5A1, TGFB1, WNT3, PTPN11, GATA4, EIF2AK3, GCGR, IER3IP1, APPL1, PNPLA6, CACNA1C, INSR, IL6, STAR, GATA6, ZMPSTE24, TRH, DUOXA2, CTNS, HSD3B2, CISD2, DNAJC3, GNRH1, POLR3B, PNPLA2, NR3C1, ESR1, PIK3R1, CYP17A1, HFE, SHH

MULLERIAN APLASIA AND HYPERANDROGENISM, {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}, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?PERRAULT SYNDROME 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LEPRECHAUNISM, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PEUTZ-JEGHERS SYNDROME, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FUHRMANN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MARTSOLF SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CULLER-JONES SYNDROME, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, ?TETRA-AMELIA SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, COWDEN SYNDROME 7, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, CORNELIA DE LANGE SYNDROME 5, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, HAMAMY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}

CAV1, IRX5, CNBP, MTNR1B, GNAS, OTX2, PRKAR1A, HARS2, IL17RD, FGA, B2M, STK11, WT1, ATP7B, BMP4, WNT4, GATA3, HLA-DQA1, PTEN, WNT7A, GP1BA, KRAS, APOA1, NKX2-5, AR, IGF2, TCF7L2, CCND1, FGFR1, LEP, FSHR, HS6ST1, PTH, IFNG, SOX9, TSHR, TP63, SEC23B, INS, LRP6, GJA1, NRAS, HNF1B, RAB3GAP2, SDHD, NEUROD1, STAT1, CASR, PITX2, B4GALNT1, BMP2, FOXP3, NDN, TANGO2, MAPK8IP1, ITCH, HNF1A, GLI2, HAMP, BTK, AIRE, SERPINC1, HDAC8, STUB1, NR3C1, EIF2B1, WNT3, TGFB1, ATM, GATA6, SPRY4, STAT3, PRKACA, CACNA1C, INSR, SLC2A4, TP53, IL6, TRH, HRAS, HLA-DQB1, POLR3B, STX16, BMPR1B, ESR1, PIK3R1, HFE, SHH

{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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?CHARGE SYNDROME, CHARGE SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL CYSTS AND DIABETES SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALSTROM SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SECKEL SYNDROME 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, KENNY-CAFFEY SYNDROME, TYPE 1, HYDROLETHALUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, 3-M SYNDROME 1, CULLER-JONES SYNDROME, LUSCAN-LUMISH SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MECKEL SYNDROME 1, TIMOTHY SYNDROME, HOLOPROSENCEPHALY-9, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, FRAGILE X TREMOR/ATAXIA SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, XERODERMA PIGMENTOSUM, GROUP B, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PRECOCIOUS PUBERTY, CENTRAL, 1, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 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, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, CARNEY COMPLEX, TYPE 1, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ESTROGEN RESISTANCE, ?46XY SEX REVERSAL 5, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, BARDET-BIEDL SYNDROME 6, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

PDE4D, USP8, CAV1, LMNA, KISS1, SALL1, PRKACA, SEMA3E, TBX19, AP2S1, SLC16A1, PPARG, PRKAR1A, KISS1R, BTK, B2M, AKT2, KIF7, WT1, BMP4, CDC73, IRS1, MKS1, GATA3, GNAI2, THRB, PTEN, PTCH1, SOX9, ALMS1, KRAS, GLI2, AR, WRN, GNAS, TCF7L2, THRA, ERCC3, IL6, FGFR1, LHX3, POC1A, CCND1, PTH, IFNG, ICK, AAAS, MKKS, CUL7, MAX, FANCA, TP63, INS, LRP6, PITX2, DDX3X, GNA11, GJA1, HNF1B, SETD2, GDNF, STAT1, CASR, CTDP1, NIN, VHL, KIF1B, USP9X, BMP2, FOXP3, BRCA1, NDN, SEMA3A, NDUFS1, TP53, LIPE, MAPK8IP1, POLD1, LMNB2, ITCH, HNF1A, PTPN1, PEX5, XRCC4, TSC1, STAT3, CYC1, CUL4B, HSD17B4, POLR3A, STUB1, NR3C1, EIF2B1, TGFB1, HYLS1, ATM, GATA4, APPL1, GLUD1, TBCE, CACNA1C, INSR, PTPN11, PCNT, CEP57, FMR1, BLM, CBX2, FEZF1, CDKN1B, CNBP, HRAS, IRS2, GNRH1, POLR3B, STX16, BMPR1B, ESR1, PIK3R1, C10orf2, SHH

{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}, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, HOLOPROSENCEPHALY-7, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, RENAL CYSTS AND DIABETES SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, HARTSFIELD SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ALSTROM SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, X-LINKED 102, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 3-M SYNDROME 1, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, PERRAULT SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, PLEUROPULMONARY BLASTOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, XERODERMA PIGMENTOSUM, GROUP B, {HASHIMOTO THYROIDITIS}, KABUKI SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1