GENITOURINARY

HARTSFIELD SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HOLOPROSENCEPHALY-3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CARASIL SYNDROME, FECHTNER SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SEBASTIAN SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AXENFELD-RIEGER SYNDROME, TYPE 1, EPSTEIN SYNDROME, TUBEROUS SCLEROSIS 2, TRIGONOCEPHALY 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I

FSHB, TGFB2, HTRA1, AMHR2, SOX9, SMAD4, CREBBP, SMAD9, BMPR1A, AMH, GATA4, CCND1, MYH9, TGFB1, PITX2, PPARG, BMP2, FN1, CDKN1B, FGFR1, DVL1, PRKCD, IFNG, BMP4, BMPER, EGFR, SPRY2, GSC, SMAD3, BMPR1B, ESR1, CFTR, SHH, SF3B4, PTEN, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VACTERL ASSOCIATION, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DEAFNESS, AUTOSOMAL DOMINANT 23, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BRACHIOOTIC SYNDROME 3, HEPATIC ADENOMA, SOMATIC, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HOLOPROSENCEPHALY-3, DENYS-DRASH SYNDROME, RUBINSTEIN-TAYBI SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, CRANIOFRONTONASAL DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MELNICK-FRASER SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, SERKAL SYNDROME, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OCULOECTODERMAL SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, WAARDENBURG SYNDROME, TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 1, SPINOCEREBELLAR ATAXIA 17, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, NEPHROTIC SYNDROME, TYPE 4, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CROUZON SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

FSHB, FLNA, FGFR3, SOX2, ERBB3, NRAS, MAP2K2, SMAD4, NR3C1, DVL3, PIK3R2, WNT5A, SMAD9, GLI3, NOTCH1, GATA4, TBP, CCND1, TBX3, FGF10, MTOR, FGFR1, OTX2, GSC, TCF4, PAX2, SIX1, FN1, BMP2, KMT2A, FGFR2, CREBBP, BRCA1, DVL1, SALL4, BMPR1A, WT1, BMP4, PITX2, ROR2, ZIC3, WNT3, EZH2, HNF1A, PIK3CA, APC, PTEN, HRAS, COL1A2, EGFR, SPRY2, WNT4, KRAS, EFNB1, PORCN, MUSK, SMAD3, PAX3, BMPR1B, ESR1, GATA3, SHH, WNT7A, SF3B4, RB1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, BASAL CELL NEVUS SYNDROME, CULLER-JONES SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, HOLOPROSENCEPHALY-9, HOLOPROSENCEPHALY-3, BANNAYAN-RILEY-RUVALCABA 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, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, 46XY SEX REVERSAL 7, ?BLEEDING DISORDER, PLATELET-TYPE, 19, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LADD SYNDROME, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, ROBINOW SYNDROME, CARPENTER SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SERKAL SYNDROME

PTCH1, APOE, LRP5, WNT5A, RAB23, GLI2, SUFU, WNT3, FGF10, BMP2, OTX2, WNT7A, PTCH2, CCND1, DHH, BMP4, GLI3, PTEN, ROR2, LRP2, WNT4, PRKACG, PORCN, GSC, SHH

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, BARAITSER-WINTER SYNDROME 1, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, MOYAMOYA 6 WITH ACHALASIA, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, VON WILLEBRAND DISEASE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, SMED STRUDWICK TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME 9, MELNICK-NEEDLES SYNDROME, CLOVE SYNDROME, SOMATIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MENTAL RETARDATION, X-LINKED 90, HYPERPARATHYROIDISM, NEONATAL, AMYLOIDOSIS, FINNISH TYPE, ?PROGESTERONE RESISTANCE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 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}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GLUCOCORTICOID RESISTANCE, PITUITARY ADENOMA, ACTH-SECRETING, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, SMITH-KINGSMORE SYNDROME

SOX9, ACTB, DLG3, ITPR3, VWF, ERBB3, SLC9A3R1, GP1BA, PIK3R2, TGFB1, GNAS, COL3A1, ATM, SOS2, ITGB3, CASR, AGT, MTOR, EDNRA, NOS3, BMP2, HRAS, PGR, SOS1, BTK, PRKACG, SOX10, FGA, GP1BB, F2, GNAI2, CCND1, HTR1A, PIK3CA, ITGA2B, EDNRB, COL1A2, EGFR, SNCA, GNRH1, FLNA, GP9, NR3C1, GSN, FCGR2A, CFTR, ANXA5, GUCY1A3, COL2A1, PIK3R1

RABSON-MENDENHALL SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PEPCK DEFICIENCY, MITOCHONDRIAL, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GLYCOGEN STORAGE DISEASE IA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, WAARDENBURG SYNDROME, TYPE 1, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOSPADIAS 1, X-LINKED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PEUTZ-JEGHERS SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, MYHRE SYNDROME, ANDROGEN INSENSITIVITY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LOEYS-DIETZ SYNDROME 3, AU-KLINE SYNDROME, CORNELIA DE LANGE SYNDROME 1, PITUITARY ADENOMA, ACTH-SECRETING, MEIER-GORLIN SYNDROME 5, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, TUBEROUS SCLEROSIS-1, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, TRIGONOCEPHALY 1, SPINOCEREBELLAR ATAXIA 17, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

NRAS, TGFB2, FGFR1, KMT2A, MAP2K2, SMAD4, PTEN, NOTCH1, AR, ACTN4, CASP10, TGFB1, PIK3R2, NOS3, ATM, TBP, F2, CASR, AGT, PCK1, PPARG, PRKAG2, SCNN1A, INSR, PTPN11, HNRNPK, CDC6, FN1, KRAS, G6PC3, SOS1, ESR1, STK11, BRCA1, CCND1, PARK2, CDKN1B, ICK, G6PC, SCNN1G, PIK3CA, PCK2, HRAS, EGFR, SNCA, RB1, SMAD3, PAX3, CREBBP, GSN, BRAF, TSC1, CFTR, SOS2, GNAI2, MTOR, PIK3R1

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, ID, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MYHRE SYNDROME, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LOEYS-DIETZ SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

NRAS, TGFB2, KRAS, ERBB3, MAP2K2, SMAD4, PIK3R2, TGFB1, PIK3CA, PTPN11, MTOR, FN1, CBL, CCND1, CDKN1B, VEGFC, SOS1, HRAS, EGFR, SPRY2, RB1, SMAD3, CREBBP, ESR1, PIK3R1, BRAF, PTEN, SOS2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, BASAL CELL NEVUS SYNDROME, CULLER-JONES SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HOLOPROSENCEPHALY-9, HOLOPROSENCEPHALY-3, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MICROPHTHALMIA, SYNDROMIC 6, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, FOCAL DERMAL HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, DESMOID DISEASE, HEREDITARY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LADD SYNDROME, PALLISTER-HALL SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SERKAL SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ROBINOW SYNDROME

PTCH1, WNT7A, WNT5A, SUFU, SMAD4, DVL3, WNT3, FGF10, PITX2, BMP2, OTX2, PTCH2, DVL1, PAX3, GSC, GLI3, APC, PTEN, ROR2, BMP4, GLI2, MUSK, PORCN, WNT4, SHH

BASAL CELL NEVUS SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, NOONAN SYNDROME 9, PITUITARY ADENOMA, ACTH-SECRETING, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, RUBINSTEIN-TAYBI SYNDROME, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, OVARIAN HYPERSTIMULATION SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RABSON-MENDENHALL SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPOMAGNESEMIA 2, RENAL, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, NOONAN SYNDROME 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, WHIM SYNDROME, SPINOCEREBELLAR ATAXIA 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, 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}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, SPINOCEREBELLAR ATAXIA 17, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, HOLOPROSENCEPHALY-3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PALLISTER-HALL SYNDROME, NEPHROTIC SYNDROME, TYPE 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

PTCH1, FSHB, CD44, ADCY10, PPARG, GJA1, AMHR2, SOX9, MAP2K2, BRAF, GNRH1, HTR1A, SLC9A3R1, EIF2B1, ACTN4, PLCE1, TGFB1, GLI3, PIK3R2, AMH, SOS2, GATA4, TBP, TNFSF11, CASR, LEP, AGT, CACNA1D, EDNRA, INSR, PEX5, GRIP1, PPP1R3A, FOXP3, NOS3, FLNA, PRKAR1A, SOS1, BMP2, PRKACG, ESR1, FSHR, F2, MECP2, CCND1, ATXN1, ERBB3, LIPE, PRKCD, GNAS, CXCR4, HNF1B, DNM2, PIK3CA, NBN, PTPN11, HRAS, EGFR, SNCA, JAG1, EFNB1, RB1, SMAD3, CREBBP, HAMP, ADA, FXYD2, CFTR, SHH, GNAI2, FLNB, PDE4D, MTOR, PIK3R1

HARTSFIELD SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULOECTODERMAL SYNDROME, ANDROGEN INSENSITIVITY, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SHORT SYNDROME, LOEYS-DIETZ SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, ID, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, HYPOSPADIAS 1, X-LINKED, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, APERT SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RABSON-MENDENHALL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, TRIGONOCEPHALY 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

NRAS, F2, KRAS, PRKCD, CBL, MAP2K2, SMAD4, AR, PIK3R2, PIK3CA, NOTCH1, CCND1, MTOR, FGFR1, INSR, SOS1, FGFR2, SRD5A2, CDKN1B, VEGFC, HRAS, EGFR, RB1, SMAD3, CREBBP, ESR1, PIK3R1, BRAF, PTEN, SOS2

BARAITSER-WINTER SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), FANCONI ANEMIA, COMPLEMENTATION GROUP A, BJORNSTAD SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPERCALCEMIA, INFANTILE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, RENAL TUBULAR DYSGENESIS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, OROTIC ACIDURIA, ATAXIA-TELANGIECTASIA, HMG-COA LYASE DEFICIENCY, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NORUM DISEASE, MEND SYNDROME, DESMOSTEROLOSIS, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, PREMATURE OVARIAN FAILURE 7, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, FANCONI RENOTUBULAR SYNDROME 2, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SMITH-LEMLI-OPITZ SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE I, OCULOECTODERMAL SYNDROME, WHIM SYNDROME, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPINOCEREBELLAR ATAXIA 1, ?LAURENCE-MOON SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, ?FANCONI RENOTUBULAR SYNDROME 3, GLYCEROL KINASE DEFICIENCY, SPERMATOGENIC FAILURE 8, CLOVE SYNDROME, SOMATIC, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 46XY SEX REVERSAL 3, LATHOSTEROLOSIS, PERRAULT SYNDROME 5, CHILD SYNDROME, CORNELIA DE LANGE SYNDROME 5, METACHROMATIC LEUKODYSTROPHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, APPARENT MINERALOCORTICOID EXCESS, WILSON-TURNER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYOPATHY DUE TO CPT II DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ANDROGEN INSENSITIVITY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ESTROGEN RESISTANCE, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MENTAL RETARDATION, X-LINKED 90, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

SLC34A1, FANCM, LMNA, CPT2, ACTB, ATP6V1B1, CYP11B2, AGT, PPARG, PTDSS1, NSDHL, GJA1, BAAT, ARSE, LCAT, NF1, CXCR4, NEU1, PIK3CA, AKR1C4, CYP11B1, POR, CYP7B1, HSD11B1, UMPS, DGKE, KRAS, APOA1, GK, AR, NOS3, LPIN1, MTOR, COQ6, LEP, MSMO1, IFNG, CBL, SCP2, GBA2, ELOVL4, HSD17B3, FANCA, STS, FGF23, CYP24A1, PNPLA6, SLC35A2, GLB1, REN, EBP, BCS1L, SMAD9, SC5D, PYGM, TNFSF11, VHL, HNF4A, HSD3B2, HMGCL, BRCA1, SRD5A2, ATXN1, PDSS2, ETFA, PRKCD, EGFR, PEX5, ADH1C, EIF2B5, FAH, SSR4, HSD17B4, DLG3, CYP21A2, HDAC8, HCCS, EIF2B1, DHCR7, NR5A1, TGFB1, AKR1C2, ATM, GATA4, MT-CO2, HSD11B2, CPT1C, LPL, ACTN4, TINF2, GBA, EHHADH, GLA, FANCC, TRH, PEX19, HRAS, LIPA, DHCR24, GNRH1, AGPAT2, SMAD3, NR3C1, HSPG2, CAD, ESR1, C10orf2, CYP17A1, ARSA, PIK3R1

RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HYPOMAGNESEMIA 2, RENAL, HARTSFIELD SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLUCOCORTICOID RESISTANCE, CULLER-JONES SYNDROME, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CLOVE SYNDROME, SOMATIC, HOLOPROSENCEPHALY-9, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BARTTER SYNDROME, TYPE 2, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, BARTTER SYNDROME, TYPE 3, PEPCK DEFICIENCY, MITOCHONDRIAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOSPADIAS 1, X-LINKED, NEPHROLITHIASIS, TYPE I, HYPOPHOSPHATEMIC RICKETS, ABCD SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, NOONAN SYNDROME 9, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WRINKLY SKIN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, BARTTER SYNDROME, TYPE 4B, DIGENIC, NEPHROTIC SYNDROME, TYPE 8, ESTROGEN RESISTANCE, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, COWDEN SYNDROME 7, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, DENT DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MYOTUBULAR MYOPATHY, X-LINKED, RENAL TUBULAR ACIDOSIS, DISTAL, AR, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, RENAL TUBULAR ACIDOSIS, DISTAL, AD, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, TRIGONOCEPHALY 1, APPARENT MINERALOCORTICOID EXCESS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

NF1, CA2, ATP6V1B1, AR, F2, FGFR1, KRAS, GLI2, HNF1B, NR3C1, CLCN5, PIK3CA, SCNN1B, AGTR1, TGFB1, PIK3R2, ATM, PTH1R, CFTR, ATP6V1B2, AGT, PCK1, EDNRA, WAS, SCNN1A, INSR, FOXP3, EDNRB, HSD11B2, MTOR, PCK2, KL, SOS1, ESR1, CBL, CREBBP, GLUD2, SEC23B, KCNJ1, ATP6V0A2, REN, AP2S1, ATP5A1, GNAS, CLCNKB, SCNN1G, DNM2, SLC4A1, AQP2, BSND, PRKACG, ARHGDIA, SLC4A4, VPS45, AVPR2, SLC9A3R1, RPS6KA3, FXYD2, SOS2, GNAI2, HRAS, DYNC2H1, NR3C2, RB1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ACRODERMATITIS ENTEROPATHICA, CARASIL SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEPATIC ADENOMA, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SENIOR-LOKEN SYNDROME 5, LOEYS-DIETZ SYNDROME 3, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, RENAL CYSTS AND DIABETES SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, ALPORT SYNDROME, AUTOSOMAL DOMINANT, FANCONI RENOTUBULAR SYNDROME 2, MOYAMOYA 6 WITH ACHALASIA, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MICROVILLUS INCLUSION DISEASE, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CYSTINURIA, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, BRUCK SYNDROME 2, RENAL TUBULAR DYSGENESIS, FANCONI-BICKEL SYNDROME, OCCIPITAL HORN SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HYPOMAGNESEMIA 2, RENAL, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NOONAN SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, VISCERAL MYOPATHY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, GLYCOGEN STORAGE DISEASE IC, CALCIUM OXALATE UROLITHIASIS, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, SPINOCEREBELLAR ATAXIA 17, ALPORT SYNDROME, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, GLYCOGEN STORAGE DISEASE XI, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ABCD SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, 3MC SYNDROME 1, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, CUTIS LAXA, AD, PREMATURE OVARIAN FAILURE 7, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LIPOID ADRENAL HYPERPLASIA, SPERMATOGENIC FAILURE 8, HYPERGLYCINURIA, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, C4A DEFICIENCY, 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, WAARDENBURG SYNDROME, TYPE 4C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

CA2, SLC34A1, F2, EPHX1, APOE, KISS1, ACTB, NALCN, GNAS, CIITA, G6PC, COL3A1, MUC1, ITGB3, AGT, PPARG, BTK, GJA1, G6PC3, FGA, B2M, LIPE, COL4A5, PIK3CA, EFEMP2, SLC3A1, SLC4A4, CREBBP, GNAI2, SLC6A19, PRSS1, ANXA5, WNT7A, PRSS2, DVL3, TRPV4, APOA1, ELN, EGFR, SLC9A3R1, SLC39A4, NOS3, KCNJ1, CACNA1D, GPI, KCNJ10, LEP, COL1A2, CDKN1B, CBL, PRKACG, CCND1, IFNG, C4A, LDHA, HNF4A, CD44, DSE, HSPD1, ALPL, CASR, SI, SLC7A7, FGF23, FXYD2, IQCB1, SLC26A3, SOS2, TTR, LYZ, VHL, SLC2A2, SOX9, HNF1B, COL4A1, SLC7A9, FLT4, PTH1R, SLC19A2, MYO5B, COL4A4, BMP2, EDNRB, FN1, CFTR, ATXN1, PRKCD, LRP2, ATP5A1, MMACHC, HTRA1, SNCA, SLC37A4, HNF1A, PTEN, ITPR3, HAMP, GSN, GNRH1, CHRM3, SOX10, GUCY1A3, COL2A1, SSR4, FLNA, SLC40A1, SMAD3, MASP1, BAAT, UBE2A, PIK3R2, TGFB1, NR5A1, PTPN11, ATM, GATA4, TBP, ATP7A, NR4A2, INSR, NOTCH1, SOS1, CXCR4, COL4A3, RB1, STAR, PLOD2, TRH, CTCF, HRAS, LIPA, ADA, AGPAT2, MYH11, NR3C1, HSPG2, ESR1, ITGA6, PDE4D, MTOR, PIK3R1

SEA-BLUE HISTIOCYTE DISEASE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE II, VON WILLEBRAND DISEASE, TYPE 1, HOLOPROSENCEPHALY-3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PIEBALDISM, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), SHORT SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOSPADIAS 1, X-LINKED, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLANZMANN THROMBASTHENIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, VESICOURETERAL REFLUX 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CALCIUM OXALATE UROLITHIASIS, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, WAARDENBURG SYNDROME, TYPE 4C, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, PIERSON SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ALPORT SYNDROME

SOX9, AR, ITGB3, PPARG, ITGA8, APOE, COL4A1, GP1BA, VWF, ITGB4, COL3A1, GP1BB, F2, TGFB1, VHL, COL4A4, BMP2, COL1A2, FLNA, ITGA2B, FN1, SOX10, ITGA6, COL4A3, ITGA3, COL4A5, LAMB2, CD44, SERPINH1, SNAI2, TNXB, GP9, HSPG2, SHH, COL2A1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, PREMATURE OVARIAN FAILURE 7, BARAITSER-WINTER SYNDROME 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOMAGNESEMIA 2, RENAL, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, LATHOSTEROLOSIS, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, ?PROGESTERONE RESISTANCE, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLANZMANN THROMBASTHENIA, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, ABCD SYNDROME, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, STROMME SYNDROME, TRIGONOCEPHALY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LYMPHEDEMA, HEREDITARY, IA, MEIER-GORLIN SYNDROME 5, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, NORUM DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, PEPCK DEFICIENCY, MITOCHONDRIAL, MOYAMOYA 6 WITH ACHALASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ANDROGEN INSENSITIVITY, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PEUTZ-JEGHERS SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, BOHRING-OPITZ SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, NIJMEGEN BREAKAGE SYNDROME, LOEYS-DIETZ SYNDROME 3, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, FANCONI-BICKEL SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SPINOCEREBELLAR ATAXIA 17, DENYS-DRASH SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OHDO SYNDROME, X-LINKED, AMYLOIDOSIS, FINNISH TYPE, ?TETRA-AMELIA SYNDROME, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, 3-M SYNDROME 1, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOTONIC DYSTROPHY 1, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-9, MULLERIAN APLASIA AND HYPERANDROGENISM, OCULOECTODERMAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, SPERMATOGENIC FAILURE 8, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?FANCONI RENOTUBULAR SYNDROME 3, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, WAARDENBURG SYNDROME, TYPE 1, GLYCEROL KINASE DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, PREMATURE OVARIAN FAILURE 1, NOONAN SYNDROME 9, 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}, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, ALAGILLE SYNDROME 2, GALACTOSEMIA, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPOPROTEIN LIPASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OPITZ-KAVEGGIA SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CPT II DEFICIENCY, LETHAL NEONATAL, POLYCYSTIC LIVER DISEASE, MYOPATHY DUE TO CPT II DEFICIENCY, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LEPRECHAUNISM, DIABETES INSIPIDUS, NEPHROGENIC, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SPERMATOGENIC FAILURE 7, MELNICK-FRASER SYNDROME, SECKEL SYNDROME 1, PIEBALDISM, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, LUJAN-FRYNS SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NEPHROTIC SYNDROME, TYPE 4, HYPERPROLINEMIA, TYPE I, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, UTERINE LEIOMYOMA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, 46,XX SEX REVERSAL, TYPE 2, NEPHROTIC SYNDROME, TYPE 3, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SPINOCEREBELLAR ATAXIA 42, BERGER DISEASE, MYOGLOBINURIA, RECURRENT, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, C4A DEFICIENCY, NEPHROTIC SYNDROME, TYPE 6, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SMITH-KINGSMORE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

CA2, ERBB3, APOE, PLCE1, TRIM32, F2, FGFR1, WNT5A, PDE4D, MED13L, CPT2, MAP3K1, ACTB, GNAS, CENPF, PIK3CA, COL1A2, ALPL, AGT, PPARG, LEP, AGTR1, SOX2, OTX2, PRKAR1A, PTPRO, FLNA, NR4A2, PCK2, GJA1, G6PC3, B2M, STK11, PGR, CBL, LCAT, WT1, FH, KISS1, PTPN11, GATA2, G6PC, NBN, NOTCH1, BMP4, HTR1A, POR, WNT4, GNAI2, CREBBP, PRKAG2, COL2A1, CUL7, SF3B4, AQP2, ANXA5, WNT7A, PRSS2, LDHA, SCP2, KL, APOA1, FSHR, MAP2K2, SLC9A3R1, AR, IGF2, FLT4, NOS3, GNRHR, GLI2, BUB1B, CACNA1D, EDNRA, SCNN1A, SCARB2, PRODH, WNT3, PRLR, GALT, CDKN1B, EHHADH, GK, KRT18, LYZ, CCND1, NR0B1, CEP164, C4A, PTH1R, ICK, KIT, AVPR2, HNF4A, CD44, HSPD1, SLC6A19, ROR2, SPRY2, ZBTB16, IFNG, GSC, PRKCSH, RPS6KA3, FXYD2, DUSP6, BRAF, SSR4, CATSPER1, PITX2, MT-CO1, SLC35A2, ITGB3, CACNA1G, GNA11, SLC2A2, SERPINC1, HNF1B, SMAD4, KCNJ5, DVL3, VWF, PEX19, PAX2, SC5D, KRAS, TNFSF11, CASR, CTDP1, EYA1, PCK1, SOX9, VHL, PPP1R3A, PYGM, RAPSN, BMP2, FOXP3, EDNRB, BRCA1, MTOR, NR3C1, FN1, PRKACG, INPPL1, PRKDC, TSC2, CFTR, PARK2, MASP1, MED12, NPHS1, EGFR, NOTCH2, LIPE, HNRNPK, EZH2, PRKCD, GLI3, CDC6, SNCA, PIGR, NOTCH3, ATIC, PTEN, ITPR3, MUSK, HAMP, GSN, CHRM3, BTK, GUCY1A3, HRAS, RB1, NRAS, EIF2B1, DLG3, SMAD3, SEMA3A, LHB, HCCS, PAX3, BMPR1B, ASXL1, LHCGR, PIK3R2, BCL10, NR5A1, MED25, LPL, SOS2, GATA6, TBP, DVL1, FGF10, TGFB1, DMPK, TSC1, MT-CO2, ATXN1, INSR, FOXL2, CPT1C, SOS1, FMR1, ATM, ACTN4, REN, LRP5, SEC63, STAR, NEU1, GATA4, AHSG, CYP17A1, FSHB, TRH, CTCF, HSD3B2, LRP2, EPHX1, ATXN3, GNRH1, CTSA, MYH11, ATR, HSPG2, CAD, ESR1, SHH, ACE, F10, FLNB, PORCN, PEX5, PIK3R1

BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NOONAN SYNDROME 9, PIERSON SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, RENAL TUBULAR DYSGENESIS, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, WHIM SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, VISCERAL MYOPATHY, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CALCIUM OXALATE UROLITHIASIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OPITZ GBBB SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE IV, ALPORT SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLOPROSENCEPHALY-3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, RENAL ADYSPLASIA, VESICOURETERAL REFLUX 8, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, 46,XX SEX REVERSAL, TYPE 2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, SMITH-KINGSMORE SYNDROME

ACE, PLG, CD44, ITGB3, SHH, HTRA1, ITGA8, PRKCD, SOX9, SERPINH1, BRAF, VWF, PTEN, MID1, ACTB, NOS3, FLT4, TGFB1, PIK3R2, COL3A1, CXCR4, CCND1, F2, AGT, ITGB4, MTOR, SNCA, VHL, BMP2, COL4A1, INSR, HRAS, IGF2, SOS1, FN1, ARHGDIA, GJA1, SOX10, PRKDC, CBL, COL4A4, ACTN4, COL2A1, COL4A3, MUT, ITGA3, LRP2, COL4A5, LAMB2, TRIM32, VEGFC, PIK3CA, MYH11, ITGA2B, EDNRB, COL1A2, EGFR, SPRY2, SNAI2, EFNB1, TNXB, SMAD3, HSPG2, TNNT2, ESR1, PIK3R1, ITGA6, NOTCH1, FLNA, FLNB, PTPRZ1, MUSK, SOS2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SENIOR-LOKEN SYNDROME 4, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, FECHTNER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BRACHIOOTIC SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, OGDEN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLANZMANN THROMBASTHENIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEPHRONOPHTHISIS 4, MOYAMOYA 6 WITH ACHALASIA, MEIER-GORLIN SYNDROME 5, ULNAR-MAMMARY SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, SECKEL SYNDROME 1, MECKEL SYNDROME 10, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, ABCD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, BOHRING-OPITZ SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, OOCYTE MATURATION DEFECT 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SEBASTIAN SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, OPSISMODYSPLASIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, IVIC SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, LYMPHEDEMA, HEREDITARY, IA, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, WHIM SYNDROME, NEPHROTIC SYNDROME, TYPE 1, NOONAN SYNDROME 9, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, NOONAN SYNDROME 10, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, DESMOID DISEASE, HEREDITARY, OVARIAN DYSGENESIS 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, ALAGILLE SYNDROME, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OPITZ GBBB SYNDROME, TYPE I, DENYS-DRASH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ALPORT SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, MAY-HEGGLIN ANOMALY, MELNICK-FRASER SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, NEPHROTIC SYNDROME, TYPE 4, RENAL ADYSPLASIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, 46,XX SEX REVERSAL, TYPE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, VESICOURETERAL REFLUX 8, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, SEA-BLUE HISTIOCYTE DISEASE, NEPHROTIC SYNDROME, TYPE 6, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, PIERSON SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

CA2, FSHB, TRIM32, F2, EDNRA, KMT2A, APOE, NAA10, ACTB, GNAS, GLI3, COL3A1, ALPL, TBX3, AGT, INSR, AHSG, SOX2, OTX2, KDM1A, PTPRO, NPHP4, CDC6, ITGA8, BTK, GLI2, KISS1R, WT1, COL4A5, COL2A1, LAMB2, DNM2, B9D2, PIK3CA, SERPINH1, BMP4, JAG1, SNAI2, TEK, TNXB, MYH3, CREBBP, ARHGDIA, GATA3, GNAI2, CD81, SF3B4, MUSK, WNT7A, TGFB2, ITPR3, KRAS, ERBB3, CBL, MAP2K2, LZTR1, AR, IGF2, FLT4, NOS3, MAPT, GATA2, FGFR1, CLDN19, MID1, COL1A2, PGR, FSHR, ITGA6, CCND1, LRP5, SALL4, ZIC3, SOX9, FGFR3, VEGFC, ROR2, SPRY2, ACTA2, TNNT2, RB1, TALDO1, CLDN16, RPS6KA3, WAS, BRAF, JAM3, SOS2, CD44, SALL1, ITGB4, ITGB3, GNA11, GJA1, ACE, SMAD4, COL4A1, DVL3, VWF, SMAD9, PAX2, FLNA, CASR, EYA1, PITX2, VHL, COL4A4, RAPSN, BMP2, EDNRB, BRCA1, FN1, PRKACG, INPPL1, PRKDC, WNT5A, SIX1, DVL1, ATXN1, HTR1A, BMPR1A, NPHS1, EGFR, TUBB8, EZH2, NUP93, HTRA1, SNCA, PEX13, HNF1A, NOTCH3, EFNB1, ATIC, PTEN, TRPV4, SLC9A3R1, LYZ, GUCY1A3, KIT, PTPRZ1, GSC, NRAS, DLG3, SMAD3, PRKCD, HNRNPK, PAX3, ATR, ASXL1, PIK3R2, TGFB1, WNT3, PTPN11, ATM, GATA6, ITGA2B, TBP, CFTR, MYH9, FGF10, BMPR1B, IKBKAP, MAP3K1, MUT, TCF4, NOTCH1, PLG, SOS1, CXCR4, FGFR2, ACTN4, COL4A3, ITGA3, STAR, GATA4, CNBP, RET, CTCF, APC, HRAS, LRP2, WNT4, GNRH1, OCLN, MYH11, NR3C1, HSPG2, ESR1, PIK3R1, FLNB, SOX10, PORCN, MTOR, SHH

BARAITSER-WINTER SYNDROME 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, SESAME SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, VISCERAL MYOPATHY, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, MELNICK-NEEDLES SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CALCIUM OXALATE UROLITHIASIS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

ACE, TGFB2, ITGA8, LMNA, ACTB, KCNJ10, ITGB4, IGF2, PTPN11, PDE4D, ITGB3, TGFB1, CACNA1D, COL1A2, FLNA, ITGA2B, PRKACG, SOS1, GNAI2, ITGA3, GNAS, CD44, FN1, TNNT2, AQP2, MYH11, ITGA6, COL2A1

PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, HOLOPROSENCEPHALY-3, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, CROUZON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?RENAL HYPODYSPLASIA/APLASIA 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

SOX9, PPARG, KRAS, NRAS, MAP2K2, NOTCH1, PIK3R2, TGFB1, PAX2, FGF10, MTOR, FGFR1, LEP, INSR, NOS3, FGF17, FGFR2, FGF23, CCND1, FGF20, BMP4, PIK3CA, HRAS, EGFR, SPRY2, RB1, FGFR3, ESR1, DUSP6, PIK3R1, BRAF, PTEN, SHH

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, VON WILLEBRAND DISEASE, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, COMPLEMENT FACTOR I DEFICIENCY, 3MC SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, C1R/C1S DEFICIENCY, COMBINED, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPERPARATHYROIDISM, NEONATAL, {BUDD-CHIARI SYNDROME}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, COMPLEMENT FACTOR H DEFICIENCY, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR X DEFICIENCY, C4A DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, FACTOR VII DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

SERPINC1, C3AR1, F7, F2, MASP1, PTEN, F5, VWF, C1R, CASR, CFB, CD46, AGTR1, LEP, PLG, FN1, C1QB, FGA, CFI, IFNG, C4A, CFH, C3, C1QA, F10, EGFR, SPG7, C1QC, THBD, CD81, RB1

CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, HYPOMAGNESEMIA 2, RENAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, RABSON-MENDENHALL SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, APPARENT MINERALOCORTICOID EXCESS, NEUROFIBROMATOSIS-NOONAN SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RENAL CYSTS AND DIABETES SYNDROME, BARTTER SYNDROME, TYPE 2, LEPRECHAUNISM, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

NF1, KRAS, KCNJ1, MTOR, INSR, SCNN1G, SCNN1A, FXYD2, HNF1B, HSD11B2, SCNN1B, PIK3CA, NR3C2, PIK3R2, PIK3R1

GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HAJDU-CHENEY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), SHORT SYNDROME, WHIM SYNDROME, PIEBALDISM, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, SMED STRUDWICK TYPE, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOSPADIAS 1, X-LINKED, MELNICK-NEEDLES SYNDROME, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, GLANZMANN THROMBASTHENIA, CLOVE SYNDROME, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CALCIUM OXALATE UROLITHIASIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ALAGILLE SYNDROME 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1

AR, ITGB3, SMAD3, CBL, GP9, GP1BA, FLT4, PIK3CA, NOTCH2, GP1BB, HLA-DRB1, F2, AGT, CD19, LEP, PTPN11, FLNA, ITGA2B, CXCR4, B2M, ITGA6, IFNG, ITGA3, CD44, C3, FN1, NHP2, MYH11, CD46, COL2A1, KIT, CD81, PIK3R1

HARTSFIELD SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PEPCK DEFICIENCY, MITOCHONDRIAL, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, PEUTZ-JEGHERS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?BLEEDING DISORDER, PLATELET-TYPE, 19, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, PSEUDOHYPOALDOSTERONISM, TYPE I, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, TUBEROUS SCLEROSIS 2, OPSISMODYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, MEIER-GORLIN SYNDROME 5, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, TUBEROUS SCLEROSIS-1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

PEX5, TSC2, FGFR1, SMAD4, PTEN, SCNN1A, PIK3R2, G6PC, CPT1C, CFTR, LEP, PCK1, PPARG, PRKAG2, HNF4A, INSR, NOS3, PCK2, INPPL1, ESR1, STK11, CCND1, LIPE, PEX13, STRADA, PIK3CA, CDC6, HRAS, EGFR, ATIC, RB1, CREBBP, NR3C1, TSC1, G6PC3, PRKACG, NOTCH1, MTOR, PIK3R1

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ICHTHYOSIS, X-LINKED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PREMATURE OVARIAN FAILURE 7, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLUCOCORTICOID RESISTANCE, NEUROFIBROMATOSIS-NOONAN SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 46XY SEX REVERSAL 3, LATHOSTEROLOSIS, SPERMATOGENIC FAILURE 8, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, APPARENT MINERALOCORTICOID EXCESS, CORTISONE REDUCTASE DEFICIENCY 2, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

NR3C1, EIF2B1, NR5A1, TGFB1, AKR1C2, SC5D, CYP11B2, PPARG, HNF4A, LEP, HSD3B2, HSD11B2, MSMO1, ACTN4, SRD5A2, NR0B1, GATA4, HSD17B3, AKR1C4, CYP11B1, POR, STS, NF1, CYP21A2, CYP7B1, HSD11B1, ESR1, CYP17A1

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, C3 DEFICIENCY, GLUCOCORTICOID RESISTANCE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LOEYS-DIETZ SYNDROME 3, CLOVE SYNDROME, SOMATIC, C1R/C1S DEFICIENCY, COMBINED, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEPHROTIC SYNDROME, TYPE 8, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, MEIER-GORLIN SYNDROME 5, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

ACE, TGFB2, GNA11, GJA1, C1QA, PRKCD, B2M, PIK3R2, TGFB1, C3, NOS3, ATM, MTOR, FGFR1, AGTR1, INSR, PTPN11, PLG, KISS1R, FN1, C1QB, BTK, C1R, CBL, MAFB, CFTR, IFNG, GNAS, PROK2, PIK3CA, HSPD1, CDC6, ARHGDIA, C1QC, SMAD3, NR3C1, ESR1, GNAI2, IFNGR1, PIK3R1

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, WHIM SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, PREMATURE OVARIAN FAILURE 7, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, OPSISMODYSPLASIA, 46XY SEX REVERSAL 3, SPERMATOGENIC FAILURE 8, AGAMMAGLOBULINEMIA, X-LINKED 1, RUBINSTEIN-TAYBI SYNDROME, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

NRAS, KRAS, PRKCD, MAP2K2, NR5A1, BCL10, PIK3R2, CXCR4, CAD, MTOR, PPARG, CD19, SOS1, BTK, INPPL1, PRKDC, FCGR2B, CCND1, PIK3CA, HRAS, CREBBP, PIK3R1, KIT, CD81, SOS2

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LYMPHEDEMA, HEREDITARY, IA, SMED STRUDWICK TYPE, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BENIGN FAMILIAL HEMATURIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, CARASIL SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TUBEROUS SCLEROSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, PARKINSON DISEASE 1, PCWH SYNDROME, PIERSON SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, ALPORT SYNDROME, SMITH-KINGSMORE SYNDROME

SOX9, TGFB2, SHH, GNA11, REN, PRKCD, COL4A4, PIK3R2, TGFB1, FLT4, COL3A1, ATM, SOS2, HLA-DRB1, ITGB3, ITGB4, GJA1, VHL, LEP, NOS3, BMP2, COL1A2, PLG, FN1, IFNG, SOX10, PRKDC, B2M, ACTN4, GNAI2, COL4A3, CDKN1B, LRP2, COL4A5, IGF2, GNAS, COL4A1, LAMB2, PIK3CA, SOS1, HRAS, EGFR, SNCA, PRKACG, RB1, HTRA1, HSPG2, CFTR, ITGA6, COL2A1, PROK2, MTOR, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, ROBINOW SYNDROME, CULLER-JONES SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, HOLOPROSENCEPHALY-9, HOLOPROSENCEPHALY-3, BANNAYAN-RILEY-RUVALCABA SYNDROME, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, OCULOECTODERMAL 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, FOCAL DERMAL HYPOPLASIA, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ABCD SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LADD SYNDROME, PIEBALDISM, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PITUITARY ADENOMA, ACTH-SECRETING, NEPHROTIC SYNDROME, TYPE 6, SERKAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, HYPERPARATHYROIDISM, NEONATAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

SOX9, FLNA, ITPR3, GJA1, NRAS, MAP2K2, SMAD4, CREBBP, DVL3, WNT3, GNAS, COL1A2, GATA6, DVL1, CASR, FGF10, PITX2, BMP2, OTX2, HRAS, WNT7A, KRAS, WNT5A, PRKACG, CCND1, ROR2, PTPRO, GSC, PTEN, EDNRB, BMP4, SNCA, WNT4, GLI2, SMAD3, PAX3, HAMP, ESR1, GNAI2, KIT, PORCN, MUSK, SHH

BARAITSER-WINTER SYNDROME 1, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEOGLOPHONIC DYSPLASIA, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, BLOOM SYNDROME, AICARDI-GOUTIERES SYNDROME 7, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MAY-HEGGLIN ANOMALY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SHORT SYNDROME, WHIM SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LIPOID ADRENAL HYPERPLASIA, LYMPHEDEMA, HEREDITARY, IA, SPINOCEREBELLAR ATAXIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MUCKLE-WELLS SYNDROME, CLOVE SYNDROME, SOMATIC, WOLCOTT-RALLISON SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, FECHTNER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEPHROTIC SYNDROME, TYPE 8, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, EPSTEIN SYNDROME, SEBASTIAN SYNDROME, CALCIUM OXALATE UROLITHIASIS, ANDROGEN INSENSITIVITY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LOEYS-DIETZ SYNDROME 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, NEPHROTIC SYNDROME, TYPE 6, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

PRSS2, LDHA, TNFSF11, FGFR1, KRT8, GJA1, APOA1, CBL, MAP2K2, OAS1, IFIH1, FLT4, CIITA, PIK3R2, PTPN11, CXCR4, HLA-DRB1, F2, MYH9, LPIN1, TGFB1, MTOR, PPARG, ESR1, PRKAR1A, PTPRO, PLG, BCL10, CDKN1B, BLM, B2M, AR, CCND1, ATXN1, PRKCD, STAR, HLA-DQB1, HNRNPK, CD44, PIK3CA, HSPD1, HRAS, EGFR, EIF2AK3, IFNG, ACTB, PRSS1, SMAD3, CREBBP, ARHGDIA, NLRP3, BTK, TINF2, IFNGR1, RB1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HOLOPROSENCEPHALY-3, SECKEL SYNDROME 1, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, LOEYS-DIETZ SYNDROME 3, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, WHIM SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, SPINOCEREBELLAR ATAXIA 17, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, SMED STRUDWICK TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, APERT SYNDROME, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

BRCA2, WNT5A, MT-CO2, ACTB, GNAS, CIITA, COL1A2, PPARG, TAF6, OTX2, B2M, PIK3CA, BMP4, WNT4, CREBBP, GNAI2, MUSK, WNT7A, TGFB2, KRAS, GLI2, NOS3, BUB1B, GATA2, FGFR1, LEP, PAX2, PGR, CBL, COL2A1, CCND1, IFNG, CD44, VEGFC, HSPD1, ROR2, SPRY2, ACTA2, GSC, TP63, SOS2, ITGB3, SMAD4, DVL3, MECP2, HLA-DRB1, CASR, PITX2, BMP2, FOXP3, BRCA1, FN1, PRKACG, CFTR, HLA-DQB1, EZH2, GLI3, POLD1, PTEN, SLC9A3R1, LYZ, ITGA6, RB1, NRAS, FLNA, PAX3, NR3C1, PIK3R2, TGFB1, PRKCSH, PTPN11, ATM, GATA4, TBP, DVL1, FGF10, IKBKAP, MAP3K1, INSR, NOTCH1, PLG, SOS1, CXCR4, FGFR2, PIK3R1, GATA6, APC, HRAS, EGFR, SMAD3, ATR, HSPG2, ESR1, SHH, PORCN, MTOR, WNT3

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, HOLOPROSENCEPHALY-3, HAJDU-CHENEY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, TUBEROUS SCLEROSIS 2, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, WHIM SYNDROME, NEPHROTIC SYNDROME, TYPE 1, IMAGE SYNDROME, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?CHARGE SYNDROME, CHARGE SYNDROME, PREMATURE OVARIAN FAILURE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PLEUROPULMONARY BLASTOMA, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SECKEL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LATERAL MENINGOCELE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, ANDROGEN INSENSITIVITY, GLANZMANN THROMBASTHENIA, ESTROGEN RESISTANCE, CROUZON SYNDROME, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, APERT SYNDROME, NEPHROTIC SYNDROME, TYPE 6, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

F2, ACTB, SEMA3E, CIITA, BMPR1A, AGT, PPARG, UBA1, EIF2B2, BTK, B2M, FMR1, PDE6D, PIK3CA, NOTCH1, BMP4, BMPER, TYROBP, CREBBP, GATA3, GNAI2, PTEN, SOX9, GRIP1, KRAS, FCGR2B, AR, PGK1, NOS3, CAD, MTOR, FGFR1, LEP, CBL, CCND1, IFNG, PRLR, KAT6B, VEGFC, NOTCH3, RB1, WAS, IFNGR1, SOS2, ITGB3, TREM2, LDHA, PAX2, HLA-DRB1, TGFB2, BMP2, FLNA, FN1, ATXN1, NPHS1, NUP93, PTPRO, CDKN1C, ACTA2, EFNB1, NF1, FGFR3, GSC, NRAS, TNFSF11, SEMA3A, PRKCD, ATR, ASXL1, PIK3R2, TGFB1, PTPN11, CXCR4, GATA4, DICER1, ESR1, MAP3K1, NOTCH2, SOS1, FGFR2, GATA6, GNAS, HRAS, EGFR, BMPR1B, FCGR2A, PIK3R1, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, WEAVER SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, POLYCYSTIC LIVER DISEASE, FOCAL DERMAL HYPOPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HOLOPROSENCEPHALY-9, HOLOPROSENCEPHALY-3, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, BANNAYAN-RILEY-RUVALCABA SYNDROME, CULLER-JONES SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VESICOURETERAL REFLUX 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAUDAL REGRESSION SYNDROME, MENTAL RETARDATION, X-LINKED 90, HYPERPARATHYROIDISM, NEONATAL, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PARKINSON DISEASE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PITT-HOPKINS SYNDROME, LOEYS-DIETZ SYNDROME 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SERKAL SYNDROME, SMITH-KINGSMORE SYNDROME

WNT7A, CD44, DLG3, PPARG, WNT5A, SMAD4, NOTCH1, DVL3, GPC3, WNT3, FLNA, PAX2, ATM, GATA4, CCND1, CASR, ITPR3, PITX2, EDNRA, OTX2, HNF4A, TCF4, ROR2, BRCA1, MTOR, SOX17, VANGL1, BMP2, BMPR1A, CREBBP, DVL1, CDKN1B, GATA6, LRP5, PAX3, EZH2, GSC, COL1A2, APC, SOS1, HRAS, BMP4, SNCA, WNT4, SNAI2, GLI2, SMAD3, MUSK, NR3C1, HSPG2, PRKACG, PORCN, PTEN, SHH

BARAITSER-WINTER SYNDROME 1, ESTROGEN RESISTANCE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALAGILLE SYNDROME 2, LATERAL MENINGOCELE SYNDROME, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NOONAN SYNDROME 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, OCULOECTODERMAL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HAJDU-CHENEY SYNDROME, NOONAN SYNDROME 9, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VISCERAL MYOPATHY

EGFR, NOTCH3, ACTA2, KRAS, GATA4, NOTCH2, ESR1, GATA3, NOTCH1, ACTB, ACTG2, SOS1, SOS2

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, DESMOID DISEASE, HEREDITARY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ZIMMERMANN-LABAND SYNDROME 1, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MEIER-GORLIN SYNDROME 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, AGAMMAGLOBULINEMIA, X-LINKED 1, PITUITARY ADENOMA, ACTH-SECRETING, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, C3 DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PREMATURE OVARIAN FAILURE 7, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, WRINKLY SKIN SYNDROME, OVARIAN HYPERSTIMULATION SYNDROME, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, HAY-WELLS SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, WHIM SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMAGE SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CEREBROCOSTOMANDIBULAR SYNDROME, HYPOSPADIAS 1, X-LINKED, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, 46XY SEX REVERSAL 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, NASU-HAKOLA DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, C1Q DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, ANDROGEN INSENSITIVITY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, C1R/C1S DEFICIENCY, COMBINED, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, SPERMATOGENIC FAILURE 8, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, C4A DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1

PGK1, CIITA, BMPR1A, ATP6V1B1, ATP6V1B2, PPARG, CD19, BTK, B2M, PIK3CA, NOTCH1, TYROBP, UNG, C1QC, CREBBP, TEK, GATA3, MAFB, ATP6V0A2, PTEN, ACE, TGFB2, FSHR, AR, IGF2, NOS3, DCLRE1C, GPI, LEP, PGR, RFXAP, CBL, GNAI2, CCND1, IFNG, C4A, MUC1, C3, HSPD1, CD81, SPRY2, ACTA2, TP63, IFNGR1, PIGR, GJA1, SMAD4, LDHA, VEGFC, C1R, HLA-DRB1, APC, PITX2, SNRPB, BMP2, FOXP3, C1QA, PRKDC, CFTR, C1QB, HLA-DQB1, ATP5A1, EZH2, FN1, CDKN1C, PEX5, XRCC4, LYZ, AIRE, TNFSF11, POLR3A, PIK3R2, TGFB1, NR5A1, PTPN11, CXCR4, SPG7, ESR1, ORC1, RFX5, RFXANK, PLG, ATM, ACTN4, CDKN1B, TRH, CTLA4, HRAS, EGFR, ADA, SMAD3, FCGR2A, PIK3R1

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASER SYNDROME, COCKAYNE SYNDROME, TYPE A, OTOPALATODIGITAL SYNDROME, TYPE II, BJORNSTAD SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HYPOPHOSPHATASIA, INFANTILE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, PITUITARY ADENOMA, ACTH-SECRETING, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ATAXIA-TELANGIECTASIA, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MICROVILLUS INCLUSION DISEASE, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, NEPHROTIC SYNDROME, TYPE 8, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EHLERS-DANLOS SYNDROME, TYPE IV, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, LUSCAN-LUMISH SYNDROME, EVEN-PLUS SYNDROME, NOONAN SYNDROME 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, WHIM SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOSPADIAS 1, X-LINKED, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, CRANIOLENTICULOSUTURAL DYSPLASIA, PARKINSON DISEASE 6, EARLY ONSET, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 17, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, MYOTUBULAR MYOPATHY, X-LINKED, LIPOPROTEIN LIPASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, C1Q DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ANDROGEN INSENSITIVITY, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), DIABETES INSIPIDUS, NEPHROGENIC, KARTAGENER SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MENTAL RETARDATION, X-LINKED 90, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPINOCEREBELLAR ATAXIA 42, MYOGLOBINURIA, RECURRENT, SEA-BLUE HISTIOCYTE DISEASE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AU-KLINE SYNDROME, SMITH-KINGSMORE SYNDROME

APOE, DNM2, PARK7, DNAH11, PDE4D, GNAS, COL3A1, AP2S1, F2, AGT, PPARG, LRRK2, UBA1, DNAH5, ERCC8, TAF4B, B2M, LIPE, CXCR4, SEC23A, MT-CO3, DNAI1, ARHGDIA, COX8A, DNAI2, CREBBP, GNAI2, SF3B4, PTEN, GRIP1, ERBB3, MAP2K2, AR, NOS3, CCND1, MAPT, DNAL1, CACNA1D, LEP, MAFB, SNCAIP, ATP6V1B1, AVPR2, MT-CYB, SPRY2, ACTA2, TNNT2, RB1, RPS6KA3, WAS, MT-CO1, ALPL, CACNA1G, DNAH8, SMAD4, SETD2, C1QC, LDHA, ALS2, PAX2, FLNA, CASR, CTDP1, MYO5B, BCS1L, BMP2, FN1, PRKACG, AIP, CFTR, PARK2, C1QB, ATP5A1, NOTCH2, HNRNPK, C1QA, SNCA, DNAH1, HSPA9, EFNB1, PEX5, ITPR3, DLG3, PRKCD, PINK1, HSD17B4, PRNP, TGFB1, LPL, TBP, EIF2AK3, MT-CO2, NOTCH1, PLG, SOS1, COX6B1, ATM, ACTN4, SPAST, FANCC, HRAS, EGFR, ATXN3, ADA, COX7B, SMAD3, NR3C1, FLNB, MTOR, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, VERHEIJ SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GLUCOCORTICOID RESISTANCE, BRANCHIOOCULOFACIAL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DIABETES INSIPIDUS, NEPHROGENIC, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 46XY SEX REVERSAL 9, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, DIARRHEA 6, SHORT SYNDROME, NIJMEGEN BREAKAGE SYNDROME, LOEYS-DIETZ SYNDROME 3, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CUTIS LAXA, AD, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CORNELIA DE LANGE SYNDROME 5, HOLOPROSENCEPHALY-9, HERMANSKY-PUDLAK SYNDROME 1, BRACHIOOTIC SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, PIERSON SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LYMPHEDEMA, HEREDITARY, IA, MEIER-GORLIN SYNDROME 5, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?RENAL HYPODYSPLASIA/APLASIA 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ALPORT SYNDROME, AUTOSOMAL DOMINANT, MICROPHTHALMIA, SYNDROMIC 2, FANCONI RENOTUBULAR SYNDROME 2, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, C3 DEFICIENCY, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, MOWAT-WILSON SYNDROME, ABCD SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PROUD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, OVARIAN HYPERSTIMULATION SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, BOHRING-OPITZ SYNDROME, UTERINE LEIOMYOMA, BENIGN FAMILIAL HEMATURIA, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, NOONAN SYNDROME 9, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, FANCONI-BICKEL SYNDROME, JOUBERT SYNDROME 5, DENYS-DRASH SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NEPHROTIC SYNDROME, TYPE 8, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, SEBASTIAN SYNDROME, WILSON-TURNER SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ALAGILLE SYNDROME 2, {BUDD-CHIARI SYNDROME}, LADD SYNDROME, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, HAY-WELLS SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, AMYLOIDOSIS, FINNISH TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, HARTSFIELD SYNDROME, NOONAN SYNDROME 4, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OCULOECTODERMAL SYNDROME, GLANZMANN THROMBASTHENIA, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WHIM SYNDROME, IMAGE SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, IVIC SYNDROME, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, SPERMATOGENIC FAILURE 8, PITUITARY DEPENDENT HYPERCORTISOLISM, CLOVE SYNDROME, SOMATIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, DESMOID DISEASE, HEREDITARY, OVARIAN DYSGENESIS 1, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, ALAGILLE SYNDROME, MEIER-GORLIN SYNDROME 2, COFFIN-LOWRY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, ABLEPHARON-MACROSTOMIA SYNDROME, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 17, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ALPORT SYNDROME, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, MYOTUBULAR MYOPATHY, X-LINKED, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, GLYCOGEN STORAGE DISEASE XI, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, BARBER-SAY SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, GLYCOGEN STORAGE DISEASE X, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, PREMATURE OVARIAN FAILURE 7, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, LEPRECHAUNISM, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, MELNICK-FRASER SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RENAL ADYSPLASIA, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, PLEUROPULMONARY BLASTOMA, SECKEL SYNDROME 1, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, LATERAL MENINGOCELE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, MAY-HEGGLIN ANOMALY, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, NEPHROTIC SYNDROME, TYPE 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ULNAR-MAMMARY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 3MC SYNDROME 1, MICROPHTHALMIA, SYNDROMIC 6, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, UROFACIAL SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, 46,XX SEX REVERSAL, TYPE 2, ANDROGEN INSENSITIVITY, NEPHROTIC SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, VESICOURETERAL REFLUX 8, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, PALLISTER-HALL SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, LEOPARD SYNDROME 1, DYSAUTONOMIA, FAMILIAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, WAARDENBURG SYNDROME, TYPE 4C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

NF1, TWIST2, SLC34A1, BRCA2, USP8, F2, EPHX1, KMT2A, IGSF1, APOE, KISS1, MAP2K2, SALL1, NR4A2, ACTB, PGK1, CIITA, GLI3, COL1A2, MUC1, ITGB3, TBX3, AGT, DTNBP1, PPARG, INSR, AHSG, PIGT, NOTCH3, OTX2, PRKAR1A, PTPRO, UBA1, EDNRB, CDC6, BTK, GJA1, TAF4B, GLI2, STK11, PGR, SPG7, FGF20, AGTR1, WT1, EFEMP2, COL4A5, IKBKAP, PPP1R15B, CXCR4, LAMB2, WNT4, DNM2, GATA2, GSC, PIK3CA, NBN, ADH1C, NOTCH1, BMP4, HTR1A, WAS, POR, ARHGDIA, TNXB, HPSE2, GNAI2, NR5A1, HSD11B1, GATA3, MAFB, FLNA, SF3B4, AQP2, RARB, PTCH1, WNT7A, EDNRA, PAX2, PGAM2, GRIP1, DGKE, TRPV4, SETD5, SUFU, APOA1, FSHR, ELN, TFAP2A, SLC9A3R1, AR, GPC3, IGF2, ZBTB16, GNAS, NOS3, COL4A3, BUB1B, MTOR, LDHA, GPI, PRKACG, ITPR3, SCARB2, ASXL1, MECP2, FGF17, COPA, PTCH2, CDKN1B, CBL, HDAC8, COL2A1, CCND1, IFNG, PTH1R, ICK, LRP5, SALL4, AVPR2, WNT3, CD44, VEGFC, HSPD1, ROR2, ALPL, SPRY2, ACTA2, RB1, ZEB2, FGF23, CREBBP, CYP24A1, TP63, DUSP6, ARNT2, BRAF, KAT6B, ATRX, PITX2, SOS2, ORC4, ITGB4, PLCE1, GNA11, SLC2A2, ACE, TGFB2, SMAD4, HNF4A, DVL3, FLT4, CLASP1, C3, CEP290, LMX1B, HLA-DRB1, DLG3, CASR, LEP, APC, F5, SOX9, VHL, COL4A4, RAPSN, BMP2, TSC2, FOXP3, FKBP14, SIX1, KDM1A, FN1, CNNM2, KRAS, INPPL1, PRKDC, WNT5A, FGFR1, BCOR, BRCA1, DVL1, ATXN1, ERBB3, ETFA, PRKCD, EGFR, ATP5A1, HFE, NOTCH2, HNRNPK, EZH2, NUP93, ARX, ITGA2B, SNCA, JAG1, CDKN1C, HNF1A, GUCY2C, HSPA9, EFNB1, PTEN, FGFR3, MUSK, HAMP, GSN, B2M, CHRM3, SOX10, ITGA6, PLG, KIT, PTPRZ1, EYA1, NRAS, ATP6V1B1, SOX2, ZFPM2, MYH11, POLR3A, MASP1, PIK3R1, ZNF423, PAX3, ATR, EIF2B1, PUF60, TGFB1, PIK3R2, PTPN11, AMH, RPS6KA3, GATA4, TBP, CFTR, MYH9, FGF10, BMPR1B, NSD1, SPRY4, TSC1, MAP3K1, PARK2, TCF4, AKR1C2, SMARCA2, SOS1, BLM, ATM, FGFR2, ACTN4, TNFSF11, ITGA3, STAR, NEU1, GATA6, CNBP, COL4A1, FH, RET, KMT2D, CTCF, FOXF1, FLNB, CRB2, HACE1, LRP2, ATXN3, EIF2AK3, GNRH1, NHP2, SMAD3, NR3C1, HMGA2, HSPG2, CAD, ESR1, HRAS, SHH, F10, ACTG2, PORCN, DICER1, SKI

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BIRT-HOGG-DUBE SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?WEBB-DATTANI SYNDROME, LYMPHEDEMA, HEREDITARY, ID, LEIOMYOMATOSIS AND RENAL CELL CANCER, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 9, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LOEYS-DIETZ SYNDROME 3, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

NRAS, TGFB2, KRAS, MAP2K2, FLCN, PIK3R2, TGFB1, PIK3CA, PTPN11, MTOR, VHL, FN1, CCND1, PIK3R1, FH, VEGFC, SOS1, HRAS, EGFR, SPRY2, SMAD3, CREBBP, ARNT2, BRAF, SOS2

GLUCOCORTICOID RESISTANCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COCKAYNE SYNDROME, TYPE A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FECHTNER SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNELIA DE LANGE SYNDROME 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, PARKINSON DISEASE 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, FANCONI-BICKEL SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, RABSON-MENDENHALL SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, EMBERGER SYNDROME, BJORNSTAD SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPSTEIN SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LIPOID ADRENAL HYPERPLASIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, TUBEROUS SCLEROSIS-1, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, GLYCOGEN STORAGE DISEASE XI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, 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, ANDROGEN INSENSITIVITY, MYHRE SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, CURRARINO SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SPINOCEREBELLAR ATAXIA 42, MYOGLOBINURIA, RECURRENT, COENZYME Q10 DEFICIENCY, PRIMARY, 3, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

COX7B, SOX9, AR, F2, CACNA1G, MT-CYB, KMT2A, GJA1, PDSS2, LARS, STUB1, SMAD4, BCS1L, NR3C1, LDHA, PIK3R2, TGFB1, PIK3CA, NOTCH1, PPARG, HLA-DRB1, MNX1, GSC, MYH9, LEP, AGT, BCL10, CACNA1D, TBP, EDNRA, PRKAG2, MT-CO2, PTEN, INSR, OTX2, NOS3, PGR, MTOR, ERCC8, STAR, INPPL1, SNCA, ESR1, B2M, COX8A, STK11, MAFB, CCND1, CBL, PIK3R1, COX6B1, PRKCD, HLA-DQB1, VPS33B, HNF4A, HNF1B, SEC23A, GATA2, SLC2A2, HNF1A, MT-CO3, HSPD1, PTPN11, HRAS, BMP4, AIRE, EGFR, SPRY2, EIF2AK3, IFNG, GLI2, CREBBP, HAMP, GSN, GNRH1, TSC1, ITGA6, LYZ, UMOD, SOX10, RB1, MT-CO1

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, BARAITSER-WINTER SYNDROME 1, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AICARDI-GOUTIERES SYNDROME 7, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, FAMILIAL MEDITERRANEAN FEVER, AR, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, LOEYS-DIETZ SYNDROME 3, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SMITH-LEMLI-OPITZ SYNDROME, CORNELIA DE LANGE SYNDROME 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ALPORT SYNDROME, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MICROVILLUS INCLUSION DISEASE, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, BENIGN FAMILIAL HEMATURIA, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NOONAN SYNDROME 9, MUCKLE-WELLS SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, OOCYTE MATURATION DEFECT 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NEPHROTIC SYNDROME, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE IV, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, HAY-WELLS SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EVEN-PLUS SYNDROME, LYMPHEDEMA, HEREDITARY, IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, OCULOECTODERMAL SYNDROME, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, DESMOID DISEASE, HEREDITARY, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, JOUBERT SYNDROME 4, COMPLEMENT FACTOR H DEFICIENCY, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 17, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, NAIL-PATELLA SYNDROME, GLYCOGEN STORAGE DISEASE XI, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, SPERMATOGENIC FAILURE 10, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, FAMILIAL MEDITERRANEAN FEVER, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, DIABETES INSIPIDUS, NEPHROGENIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, COMPLEMENT FACTOR I DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 3MC SYNDROME 1, ESTROGEN RESISTANCE, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, C1R/C1S DEFICIENCY, COMBINED, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, SPINOCEREBELLAR ATAXIA 42, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, C4A DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

CA2, C3AR1, SEC23A, F2, ACTB, WAS, GNAS, CIITA, COL3A1, ATP6V1B1, ATP6V1B2, AGT, PPARG, RFX5, AGTR1, PRKAR1A, GJA1, PTPRZ1, FGA, B2M, CLASP1, IKBKAP, DNM2, PIK3CA, NOTCH1, CD81, MEFV, ARHGDIA, C1QC, CREBBP, MAFB, SCARB2, ATP6V0A2, PTEN, ANXA5, IFIH1, TGFB2, KRAS, ERBB3, CBL, NOTCH2, VWF, RNF216, CCND1, MAPT, CAD, MTOR, KIF5A, TAF6, CTSA, RFXAP, CDKN1B, BMPR1A, DSP, KRT18, GNAI2, CARD9, IFNG, C4A, CLEC7A, C1R, PRLR, CD44, C3, HSPD1, DYNC2H1, FCGR2B, SPRY2, ZBTB16, RB1, TP63, RFXANK, SEC23B, JAM3, PIK3R2, CFB, SOS2, TNFSF11, FCGR2A, ITGB3, CACNA1G, REN, SMAD4, LDHA, FLT4, PAX2, INSR, LMX1B, HLA-DRB1, FLNA, CASR, LEP, PITX2, MYO5B, MASP1, BMP2, FOXP3, BRCA1, FN1, PRKACG, CFTR, CFI, APOA1, C1QB, SEC63, EGFR, ATP5A1, TUBB8, HNRNPK, POLD1, C1QA, SNCA, PEX13, ACTA2, HSPA9, PEX5, BMPR1B, MUSK, SLC9A3R1, CFH, BTK, LYZ, SSR4, DLG3, KRT8, PRKCD, STUB1, CD46, HTR1A, IRF6, DHCR7, AQP2, CASP10, BCL10, NPHP1, PTPN11, CXCR4, TBP, MYH9, TGFB1, ESR1, MT-CO2, ATXN1, CD19, NOS3, PLG, SOS1, FGFR2, ACTN4, COL4A3, STAR, SEPT12, APC, IFNGR1, HRAS, HLA-DQB1, SPG7, GNRH1, OCLN, SMAD3, NR3C1, NLRP3, PIK3R1, FLNB, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, BASAL CELL NEVUS SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, NIJMEGEN BREAKAGE SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RENAL TUBULAR DYSGENESIS, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, STROMME SYNDROME, TRIGONOCEPHALY 1, PIERSON SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?RENAL HYPODYSPLASIA/APLASIA 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BIRT-HOGG-DUBE SYNDROME, ALPORT SYNDROME, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, MELNICK-FRASER SYNDROME, MOWAT-WILSON SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, ANDROGEN INSENSITIVITY, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, FANCONI RENOTUBULAR SYNDROME 2, DENYS-DRASH SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NEPHROTIC SYNDROME, TYPE 8, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, SEBASTIAN SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, ALPORT SYNDROME, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, WHIM SYNDROME, ?WEBB-DATTANI SYNDROME, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, SPERMATOGENIC FAILURE 8, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORNELIA DE LANGE SYNDROME 1, SPINOCEREBELLAR ATAXIA 17, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ROBINOW SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, 46,XX SEX REVERSAL, TYPE 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, LEOPARD SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

SLC34A1, BRCA2, F2, KMT2A, TSC2, NR4A2, CENPF, NUP93, COL1A2, AP2S1, AGT, PPARG, LEP, OTX2, PRKAR1A, PTPRO, ITGA2B, WNT5A, ZEB2, PGR, ITGA3, FH, LAMB2, PIK3CA, NBN, BMP4, JAG1, ARHGDIA, WNT4, CREBBP, COL2A1, MUSK, ARNT2, PTCH1, WNT7A, TGFB2, KRAS, ERBB3, GLI2, MAP2K2, FLCN, AR, NOS3, GATA2, FGFR1, SCARB2, FGF17, PTCH2, CBL, CCND1, WNT3, CD44, VEGFC, HSPD1, ROR2, SPRY2, ZBTB16, GSC, FGF23, RPS6KA3, DUSP6, RARB, BRAF, SOS2, ITGB3, GJA1, SOX9, SUFU, SMAD4, COL4A1, DVL3, FLT4, SMAD9, PAX2, LRP5, EYA1, PITX2, VHL, COL4A4, BMP2, FGF20, BRCA1, FN1, SOX2, PRKDC, SRD5A2, ATXN1, EGFR, EZH2, GLI3, SNCA, PTEN, FGFR3, HAMP, ITGA6, KIT, RB1, NRAS, FLNA, PRKCD, HNRNPK, PAX3, NR5A1, TGFB1, PIK3R2, PTPN11, CXCR4, GATA4, TBP, DVL1, MYH9, FGF10, ITGB4, MAP3K1, INSR, NOTCH1, PLG, SOS1, FGFR2, ACTN4, COL4A3, WT1, CDKN1B, COL4A5, RET, KMT2D, APC, HRAS, LRP2, ATXN3, SMAD3, HSPG2, ESR1, PIK3R1, FLNB, PORCN, MTOR, SHH

BARAITSER-WINTER SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, ID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SESAME SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?BLEEDING DISORDER, PLATELET-TYPE, 19, SMED STRUDWICK TYPE, PEUTZ-JEGHERS SYNDROME, GLUCOCORTICOID RESISTANCE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, LOEYS-DIETZ SYNDROME 3, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, GLANZMANN THROMBASTHENIA, CLOVE SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ESTROGEN RESISTANCE, RESTRICTIVE DERMOPATHY, LETHAL, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CALCIUM OXALATE UROLITHIASIS, ?PROGESTERONE RESISTANCE, TUBEROUS SCLEROSIS 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA 42, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MALOUF SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, FACTOR X DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1

ACE, DSP, TGFB2, CACNA1G, MYH11, ITGA8, ERBB3, SOX9, SMAD4, CREBBP, ACTB, ACTN4, IGF2, TGFB1, KCNJ10, PTPN11, FLNA, LMNA, ITGA2B, ITGB3, LEP, ITGB4, CACNA1D, HLA-DRB1, PRKAG2, BMP2, FOXP3, F10, PGR, FN1, GJA1, ESR1, B2M, STK11, COL2A1, CCND1, CBL, IFNG, ITGA3, HLA-DQB1, GNAS, CD44, VEGFC, PIK3CA, HSPD1, SOS1, HRAS, BMP4, COL1A2, EGFR, SPRY2, PRKACG, TNNT2, AQP2, SMAD3, MYH3, NR3C1, TP63, CFTR, ITGA6, GNAI2, ACTG2, PDE4D, PTEN, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SERKAL SYNDROME, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, ABLEPHARON-MACROSTOMIA SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, BARBER-SAY SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, SMED STRUDWICK TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, NEPHROTIC SYNDROME, TYPE 4, CUTIS LAXA, AD, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, UROFACIAL SYNDROME 1, NEPHROTIC SYNDROME, TYPE 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, PALLISTER-HALL SYNDROME, NEPHROTIC SYNDROME, TYPE 6, LEOPARD SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

F2, FGFR1, WNT5A, MAP2K2, ACTB, COL1A2, AGT, OTX2, KDM1A, WT1, DNM2, PIK3CA, BMP4, WNT4, HPSE2, CREBBP, COL2A1, MUSK, PTCH1, WNT7A, TGFB2, KRAS, ERBB3, TWIST2, PLCE1, NOS3, MTOR, EDNRA, SCARB2, CBL, PRKACG, CCND1, IFNG, CD44, VEGFC, ROR2, GSC, BRAF, SOS2, ITGB3, GJA1, SMARCA2, SMAD4, DVL3, FLT4, PAX2, CASR, PITX2, BMP2, BRCA1, FN1, DVL1, ELN, EZH2, GLI3, PTPRO, GLI2, ITPR3, ITGA6, NRAS, FLNA, PRKCD, PAX3, PIK3R2, TGFB1, IGF2, PTPN11, GATA6, FGF10, INSR, NOTCH1, SOS1, ACTN4, PIK3R1, GATA4, GPC3, PTEN, HRAS, EGFR, NR3C1, HSPG2, ESR1, SHH, FLNB, PORCN, WNT3

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, AICARDI-GOUTIERES SYNDROME 7, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, POPLITEAL PTERYGIUM SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, NIJMEGEN BREAKAGE SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, FECHTNER SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HERMANSKY-PUDLAK SYNDROME 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, AGAMMAGLOBULINEMIA, X-LINKED 1, TRIGONOCEPHALY 1, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DESMOID DISEASE, HEREDITARY, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, LEOPARD SYNDROME 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, BECKWITH-WIEDEMANN SYNDROME, MEIER-GORLIN SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CRANIOFRONTONASAL DYSPLASIA, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NEPHROTIC SYNDROME, TYPE 8, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SPINOCEREBELLAR ATAXIA 17, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, SEBASTIAN SYNDROME, OHDO SYNDROME, X-LINKED, GLANZMANN THROMBASTHENIA, PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {BUDD-CHIARI SYNDROME}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-9, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, OCULOECTODERMAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMAGE SYNDROME, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, NOONAN SYNDROME 10, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, RESTRICTIVE DERMOPATHY, LETHAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HYPERPARATHYROIDISM, NEONATAL, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, PREMATURE OVARIAN FAILURE 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, FRONTOMETAPHYSEAL DYSPLASIA, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPOPROTEIN LIPASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OPITZ-KAVEGGIA SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LEPRECHAUNISM, BLOOM SYNDROME, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, HAY-WELLS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, ANDROGEN INSENSITIVITY, LUJAN-FRYNS SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MAY-HEGGLIN ANOMALY, NEPHROTIC SYNDROME, TYPE 4, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, UTERINE LEIOMYOMA, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, SENIOR-LOKEN SYNDROME 9, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, LIPOID ADRENAL HYPERPLASIA, APERT SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, NEPHROTIC SYNDROME, TYPE 6, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DYSAUTONOMIA, FAMILIAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SECKEL SYNDROME 1, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3

APOE, BRCA2, TRIM32, F2, FGFR1, KMT2A, PRSS1, APRT, CNBP, MAP3K1, ACTB, GNAS, CIITA, NUP93, CTSA, MUC1, PPARG, TAF6, OTX2, PRKAR1A, PTPRO, FLNA, CDC6, BTK, WNT5A, TAF4B, B2M, PGR, SPG7, FMR1, WT1, CLASP1, IKBKAP, PHF8, CXCR4, DNM2, PIK3CA, NBN, SERPINH1, BMP4, CDC73, MEFV, ARHGDIA, WNT4, SMAD4, CREBBP, GATA3, GNAI2, CD81, AQP2, WNT7A, PRSS2, F5, TGFB2, KRAS, GJA1, APOA1, FGFR2, MAP2K2, LZTR1, SLC9A3R1, AR, NOS3, GLI2, BUB1B, GATA2, LPIN1, EDNRA, CLDN19, SCARB2, LMNA, PAX2, WNT3, COPA, CDKN1B, CBL, MAFB, CCND1, IFNG, ATP6V1B1, VPS33B, TALDO1, CD44, VEGFC, HSPD1, ROR2, SPRY2, PRKACG, ACTA2, IFIH1, GSC, CLDN16, TP63, DTNBP1, BRAF, IFNGR1, CFB, SOS2, ORC4, GPC3, ITGB3, TRAF3IP1, SMARCA2, OAS1, DVL3, FLT4, C3, MECP2, INSR, HLA-DRB1, TNFSF11, CASR, LEP, CTDP1, PITX2, VHL, HNF4A, TNFAIP3, RAPSN, BMP2, FOXP3, F10, BRCA1, MTOR, NDN, NR3C1, FN1, KRT8, KANSL1, PRKDC, DVL1, ATXN1, MED12, NPHS1, EGFR, NOTCH2, HNRNPK, EZH2, GLI3, POLD1, ITGA2B, SNCA, CDKN1C, HNF1A, FANCA, HSPA9, EFNB1, PTEN, MUSK, HAMP, CHRM3, LYZ, ITGA6, KIT, COL2A1, NRAS, DLG3, SMAD3, POLR3A, PRKCD, STUB1, CD46, PAX3, ATR, EIF2B1, PIK3R2, TGFB1, CASP10, PTPN11, LPL, GATA4, TBP, CFTR, MYH9, FGF10, BCL10, NLRP3, MT-CO2, CD19, NOTCH1, PLG, SOS1, BLM, ATM, FCGR2B, RB1, STAR, NEU1, GATA6, RET, CTCF, APC, PRKCSH, HRAS, COL1A2, HLA-DQB1, EIF2AK3, OCLN, LDHA, IRF6, HSPG2, CAD, ESR1, SHH, TINF2, HFE, PORCN, PEX5, PIK3R1

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CARASIL SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, SICKLE CELL ANEMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA, X-LINKED 1, TRIGONOCEPHALY 1, PIERSON SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, MEIER-GORLIN SYNDROME 5, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ALPORT SYNDROME, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, C3 DEFICIENCY, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, BENIGN FAMILIAL HEMATURIA, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, NEPHROTIC SYNDROME, TYPE 8, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ALPORT SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, WHIM SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, CALCIUM OXALATE UROLITHIASIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, NASU-HAKOLA DISEASE, EHLERS-DANLOS SYNDROME, TYPE IV, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, GLYCOGEN STORAGE DISEASE XI, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, C1Q DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PIEBALDISM, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, C1R/C1S DEFICIENCY, COMBINED, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, 46,XX SEX REVERSAL, TYPE 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SPINOCEREBELLAR ATAXIA 42, SEA-BLUE HISTIOCYTE DISEASE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

APOE, F2, HBB, MT-CO2, ACTB, GNAS, CIITA, COL3A1, ITGB3, AGT, PPARG, AGTR1, CDC6, GJA1, BTK, B2M, KISS1R, COL4A5, LAMB2, PIK3CA, TYROBP, ARHGDIA, C1QC, GNAI2, MAFB, CD81, MUSK, ANXA5, ACE, TGFB2, KRAS, APOA1, CBL, EGFR, IGF2, NOS3, MTOR, FGFR1, LEP, COL1A2, DSP, COL2A1, CCND1, IFNG, CD44, C3, HSPD1, ACTA2, RB1, IFNGR1, SOS2, FCGR2A, LYZ, CACNA1G, GNA11, REN, SOX9, COL4A1, LDHA, FLT4, C1R, HLA-DRB1, VHL, COL4A4, BMP2, HRAS, FN1, PRKACG, PRKDC, CFTR, C1QB, HLA-DQB1, C1QA, SNCA, PTEN, SLC9A3R1, GSN, SOX10, ITGA6, KIT, TNFSF11, HTRA1, PRKCD, AQP2, PIK3R2, TGFB1, PTPN11, ATM, EIF2AK3, ITGB4, CD46, MAP3K1, INSR, PLG, SOS1, CXCR4, FCGR2B, ACTN4, COL4A3, CDKN1B, EDNRB, LRP2, SMAD3, NR3C1, HSPG2, ESR1, PIK3R1, PROK2, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, BASAL CELL NEVUS SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RENAL TUBULAR DYSGENESIS, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, ABCD SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, DIABETES INSIPIDUS, NEPHROGENIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, TRIGONOCEPHALY 1, PIERSON SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?RENAL HYPODYSPLASIA/APLASIA 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALPORT SYNDROME, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, MOWAT-WILSON SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ANDROGEN INSENSITIVITY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, FANCONI RENOTUBULAR SYNDROME 2, DENYS-DRASH SYNDROME, OVARIAN HYPERSTIMULATION SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LADD SYNDROME, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, ALPORT SYNDROME, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, WHIM SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NOONAN SYNDROME 9, ?WEBB-DATTANI SYNDROME, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, SPERMATOGENIC FAILURE 8, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORNELIA DE LANGE SYNDROME 1, SPINOCEREBELLAR ATAXIA 17, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, MELNICK-FRASER SYNDROME, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, JOUBERT SYNDROME 5, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, 46,XX SEX REVERSAL, TYPE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, LEOPARD SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

SLC34A1, BRCA2, F2, FGFR1, KMT2A, TSC2, NR4A2, GNAS, NUP93, COL1A2, AGT, PPARG, LEP, AGTR1, SOX2, OTX2, PRKAR1A, PTPRO, ITGA2B, WNT5A, ZEB2, GLI2, PGR, FGF20, LIPE, ITGA3, FH, LAMB2, PIK3CA, BMP4, WNT4, CREBBP, GNAI2, MUSK, ARNT2, PTCH1, WNT7A, TGFB2, TRPV4, KRAS, ERBB3, CBL, MAP2K2, AR, NOS3, GATA2, EDNRA, SCARB2, PAX2, FGF17, PTCH2, FSHR, COL2A1, CCND1, IFNG, AVPR2, WNT3, CD44, VEGFC, ROR2, SPRY2, ZBTB16, GSC, FGF23, DUSP6, RARB, BRAF, SOS2, ITGB3, GNA11, GJA1, SOX9, SUFU, SMAD4, COL4A1, DVL3, FLT4, CEP290, LRP5, CASR, EYA1, PITX2, VHL, COL4A4, BMP2, FOXP3, HRAS, BRCA1, FN1, PRKACG, PRKDC, DVL1, ATXN1, HTR1A, EGFR, EZH2, GLI3, SNCA, CDKN1C, EFNB1, PTEN, FGFR3, SLC9A3R1, ITGA6, KIT, RB1, NRAS, FLNA, PRKCD, PAX3, NR5A1, TGFB1, PIK3R2, PTPN11, ATM, GATA4, TBP, MYH9, FGF10, ITGB4, SPRY4, MAP3K1, INSR, NOTCH1, PLG, SOS1, CXCR4, FGFR2, ACTN4, COL4A3, WT1, CDKN1B, COL4A5, RET, KMT2D, APC, EDNRB, LRP2, ATXN3, NHP2, SMAD3, NR3C1, HSPG2, ESR1, PIK3R1, FLNB, PORCN, MTOR, SHH