GENITOURINARY

BARAITSER-WINTER SYNDROME 1, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, FACTOR X DEFICIENCY, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VON WILLEBRAND DISEASE, TYPE 1, ENTEROKINASE DEFICIENCY, HOLOPROSENCEPHALY-3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PERRAULT SYNDROME 3, HEMOCHROMATOSIS, TYPE 2B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, 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, DESMOID DISEASE, HEREDITARY, VISCERAL MYOPATHY, COMPLEMENT FACTOR I DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, 3MC SYNDROME 1, CARASIL SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, C1R/C1S DEFICIENCY, COMBINED, {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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HEPATIC ADENOMA, SOMATIC, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CYSTINOSIS, OCULAR NONNEPHROPATHIC, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, CODAS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SMITH-KINGSMORE SYNDROME, {BUDD-CHIARI SYNDROME}

PRSS2, ACTB, F2, MYH11, VWF, MASP1, PRSS1, F7, AR, FLT4, TGFB1, IGF2, NOS3, C1QC, C1R, TMPRSS15, AGT, MTOR, LEP, BMP2, FKBP14, PLG, FN1, CFB, FGA, CBL, LONP1, CFI, IFNG, BMP4, TRH, NEU1, C3, APC, HTRA1, CLPP, CTNS, COL1A2, EGFR, HNF1A, ACTA2, ADA, RB1, GP9, CREBBP, HAMP, HSPG2, CD46, LYZ, F5, F10, HFE, CTRC, SHH

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, POLYCYSTIC LIVER DISEASE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, SHORT SYNDROME, 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, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, COENZYME Q10 DEFICIENCY, PRIMARY, 6, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HYPOSPADIAS 1, X-LINKED, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPERCALCEMIA, INFANTILE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ESTROGEN RESISTANCE, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, 46XY SEX REVERSAL 3, LATHOSTEROLOSIS, WAARDENBURG SYNDROME, TYPE 1, SPERMATOGENIC FAILURE 8, TUBEROUS SCLEROSIS 2, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, POPLITEAL PTERYGIUM SYNDROME 1, SMITH-LEMLI-OPITZ SYNDROME

LRP5, PAX3, CYP7B1, AR, DHCR7, NR5A1, GNAS, NOS3, SC5D, CYP11B2, NR4A2, COQ6, LEP, DBH, AKR1C2, CYP11B1, MSMO1, IFNG, GATA4, HNF4A, GATA6, MT-CYB, POR, GNRH1, CYP21A2, IRF6, CYP24A1, ESR1, CYP17A1, PIK3R1

HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, SHPRINTZEN-GOLDBERG SYNDROME, SPERMATOGENIC FAILURE, X-LINKED, 2, BARAITSER-WINTER SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, TRICHOHEPATOENTERIC SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, HARTSFIELD SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, C3 DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PARKINSON DISEASE 1, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, BENIGN FAMILIAL HEMATURIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GLANZMANN THROMBASTHENIA, CARASIL SYNDROME, TRIGONOCEPHALY 1, BURN-MCKEOWN SYNDROME, ESTROGEN RESISTANCE, {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, HYPERPARATHYROIDISM, NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AXENFELD-RIEGER SYNDROME, TYPE 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LOEYS-DIETZ SYNDROME 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FACTOR X DEFICIENCY, C4A DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, FRONTOMETAPHYSEAL DYSPLASIA, DESMOID DISEASE, HEREDITARY, {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

SERPINC1, TTR, ITGB3, HTRA1, REN, APOA1, AHSG, PTEN, ACTB, IGF2, TGFB1, FLNA, NOS3, CTCF, RPS6KA3, TEX11, SPINK1, CASR, AGT, ANOS1, PITX2, SNCA, VHL, LEP, MAP3K1, BMP2, NOTCH1, PLG, SERPINH1, TXNL4A, FGA, B2M, FGFR1, F2, CCND1, SPINT2, COL4A3, ERBB3, CDKN1B, C4A, BMP4, C3, APC, FN1, F10, COL1A2, EGFR, BMPER, TTC37, FANCA, GNRH1, RB1, SMAD3, CREBBP, GSN, ESR1, COL2A1, KIF1BP, MTOR, PIK3R1

VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE II, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, SMED STRUDWICK TYPE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, VISCERAL MYOPATHY, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, CUTIS LAXA, AD, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, VESICOURETERAL REFLUX 8, 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, CALCIUM OXALATE UROLITHIASIS, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL

CCBE1, F2, MYH11, ELN, SMAD4, VWF, TGFB1, NOS3, FLNA, AGT, BMP2, COL1A2, SERPINH1, FGA, B2M, KRT18, IFNG, ITGA3, CD44, FN1, HRAS, BMP4, TNXB, SMAD3, HSPG2, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BASAL CELL NEVUS SYNDROME, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIARRHEA 6, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RENAL TUBULAR DYSGENESIS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ABCD SYNDROME, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, HYPOPHOSPHATASIA, INFANTILE, HEMOCHROMATOSIS TYPE 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, FRASER SYNDROME, ?HYPERPROLACTINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, STROMME SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, MEIER-GORLIN SYNDROME 5, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?BARDET-BIEDL SYNDROME 11, ?RENAL HYPODYSPLASIA/APLASIA 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, HARTSFIELD SYNDROME, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, LEOPARD SYNDROME 1, MEND SYNDROME, ULNAR-MAMMARY SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, CURRARINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, C3 DEFICIENCY, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, JOUBERT SYNDROME 6, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ANDROGEN INSENSITIVITY, MICROVILLUS INCLUSION DISEASE, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, NEUROFIBROMATOSIS-NOONAN SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DYSKERATOSIS CONGENITA, X-LINKED, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ?MECKEL SYNDROME 9, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, JOUBERT SYNDROME 5, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ADAMS-OLIVER SYNDROME 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, 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, MICROPHTHALMIA, SYNDROMIC 12, SPINOCEREBELLAR ATAXIA 17, NEPHRONOPHTHISIS 11, AMYLOIDOSIS, FINNISH TYPE, WARBURG MICRO SYNDROME 3, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, LADD 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, ALAGILLE SYNDROME 2, PAPILLORENAL SYNDROME, LYMPHEDEMA, HEREDITARY, IA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COACH SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, SHPRINTZEN-GOLDBERG SYNDROME, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OCULOECTODERMAL SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, CRYPTORCHIDISM, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, WHIM SYNDROME, IMAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, {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, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OVARIAN HYPERSTIMULATION SYNDROME, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MECKEL SYNDROME 3, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, BERGER DISEASE, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, COFFIN-LOWRY SYNDROME, PREMATURE OVARIAN FAILURE 1, NOONAN SYNDROME 9, SECKEL SYNDROME 9, 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}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LIPOID ADRENAL HYPERPLASIA, PCWH SYNDROME, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ?PROGESTERONE RESISTANCE, FRAGILE X TREMOR/ATAXIA SYNDROME, GALACTOSEMIA, DENYS-DRASH SYNDROME, JOUBERT SYNDROME-3, FRONTOMETAPHYSEAL DYSPLASIA, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?N SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, 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, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, FRASIER SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, LEPRECHAUNISM, BLOOM SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, SPERMATOGENIC FAILURE 7, MELNICK-FRASER SYNDROME, ESCOBAR SYNDROME, PIEBALDISM, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, 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, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NEPHROTIC SYNDROME, TYPE 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 3MC SYNDROME 1, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CROUZON SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, COWDEN SYNDROME 7, MECKEL SYNDROME 10, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, SPERMATOGENIC FAILURE 8, PALLISTER-HALL SYNDROME, 46,XX SEX REVERSAL, TYPE 2, NEPHROTIC SYNDROME, TYPE 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 42, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, DYSAUTONOMIA, FAMILIAL, {BUDD-CHIARI SYNDROME}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, IVIC SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3

NF1, CA2, APOE, GPI, C3AR1, TRIM32, PARK7, DSP, KIF5A, KMT2A, TRAIP, PDE4D, SALL1, CHRNG, MAP3K1, ACTB, GNA11, TTR, SEMA3E, CENPF, GLI3, COL3A1, EBP, APOA1, SEMA3A, F2, STK10, AGT, PPARG, INSR, AGTR1, CDKN1B, FLRT3, DKC1, KDM1A, PTPRO, UBA1, NR4A2, NPHS1, EIF2B2, SLC35A2, BTK, FGA, GLI2, KISS1R, LHCGR, PGR, FGF20, IGSF1, MYO1E, WT1, EFEMP2, COL2A1, IKBKAP, KRT8, PKD1, CDC6, SUFU, DNM2, PIK3CA, RXFP2, PTCH2, NOTCH1, LTBP4, BMP4, HTR1A, TYROBP, ARHGDIA, RRM2B, GNAI2, NR5A1, TEK, GATA3, MAFB, CD81, NR3C2, AQP2, RARB, PTCH1, WNT7A, EDNRA, PAX2, GP1BA, GRIP1, FGFR3, FBLN5, GJA1, ERBB3, COPA, MAP2K2, BRAF, EGFR, KCNH1, AR, VHL, FSHR, IGF2, FLT4, RNF216, GP1BB, GNRHR, FSHB, PIGT, CIITA, GATA2, LDHA, FGFR1, CHRM3, SCARB2, POLA1, GHR, HNRNPK, GALT, NR0B1, CATSPER1, PDCD1, B9D2, KRT18, LYZ, CCND1, IFNG, AHSG, PTH1R, CLEC7A, LRP5, NRAS, AVPR2, DVL1, ELOVL4, SOX9, VEGFC, HSPD1, ROR2, FCGR2B, ALPL, SPRY2, TBX3, GUCY2C, SF3B4, GSC, RAB18, CREBBP, PROKR2, RPS6KA3, TP63, VPS35, ARNT2, SEC23B, IFNGR1, SOS2, VPS33B, MECP2, TAPT1, CD44, PLCE1, CACNA1G, HFE2, ITGA8, AMHR2, ACE, TGFB2, SMAD4, HNF4A, DVL3, VWF, SMAD9, C3, CEP290, LMX1B, CXCR4, HLA-DRB1, PYGM, TNFSF11, CASR, LEP, ITPR3, PITX2, MYO5B, MASP1, COL4A1, BMP2, FOXP3, HRAS, FLNA, MTOR, PRKAR1A, FN1, PLG, KRAS, PRKDC, FLNB, WNT5A, CFTR, PARK2, WAS, MNX1, SEC63, HLA-DQB1, ELN, LRP2, NOTCH2, CBL, EZH2, EIF2AK3, COL1A2, EYA1, HTRA1, SNCA, PIGR, CDKN1C, ZBTB16, EFNB1, PTEN, TRPV4, MUSK, HAMP, GSN, GNRH1, THBD, PTPRZ1, ITGA6, F5, KIT, RB1, AHI1, AIP, SERPINC1, DLG3, BMPR1A, MYH11, PSAP, PRKCD, B2M, STUB1, CD46, PAX3, DLL4, BMPR1B, EIF2B1, B9D1, TGFB1, PIK3R2, AKR1C2, LPL, ITGA2B, TBP, HFE, TACR3, ANXA5, FGF10, REN, ESR1, MT-CO2, ATXN1, CD19, NOS3, SMARCA2, SOS1, FMR1, BLM, ATM, FGFR2, ACTN4, TINF2, CBX2, SALL4, STAR, GNAS, SNRPB, TRH, RET, SLC9A3R1, KMT2D, CTCF, PRKCSH, EDNRB, HACE1, TMEM67, SPG7, ADA, CTSA, SMAD3, NR3C1, HSPG2, PRLR, ITGB3, SHH, KL, PTPN11, F10, KIF1BP, SOX10, PEX5, PIK3R1

EMBERGER SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, WEAVER SYNDROME, RENPENNING SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OPITZ-KAVEGGIA SYNDROME, FRASIER SYNDROME, LOEYS-DIETZ SYNDROME 3, HOLOPROSENCEPHALY-3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 46XY SEX REVERSAL 9, ANDROGEN INSENSITIVITY, MELNICK-FRASER SYNDROME, SHORT SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, MICROPHTHALMIA, SYNDROMIC 6, HAJDU-CHENEY SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SECKEL SYNDROME 2, GLUCOCORTICOID RESISTANCE, HYPOSPADIAS 1, X-LINKED, RUBINSTEIN-TAYBI SYNDROME, NEPHROTIC SYNDROME, TYPE 4, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DENYS-DRASH SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, UTERINE LEIOMYOMA, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, BRACHIOOTIC SYNDROME 3, 46XY SEX REVERSAL 3, NICOLAIDES-BARAITSER SYNDROME, HEPATIC ADENOMA, SOMATIC, SPERMATOGENIC FAILURE 8, AXENFELD-RIEGER SYNDROME, TYPE 1, MOWAT-WILSON SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 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, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, ALAGILLE SYNDROME 2, LUJAN-FRYNS SYNDROME, COUSIN SYNDROME, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, WAARDENBURG SYNDROME, TYPE 4C, ROBINOW SYNDROME, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I

SMARCA2, AR, ZFPM2, SHH, TBX15, SOX2, MED13L, SALL1, NR3C1, DVL3, NR5A1, NOTCH1, AMH, GATA4, TBP, YAP1, RBBP8, PITX2, PPARG, TCF4, TBX18, OTX2, NOTCH2, SIX1, KMT2A, ZEB2, CREBBP, MED12, WT1, HNF4A, EZH2, SOX11, BMP4, HNF1A, RB1, SMAD3, TFAP2A, BMPR1B, SMAD4, ESR1, SOX10, PQBP1, GATA2, PIK3R1

BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, BRACHIOOTIC SYNDROME 3, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, GUTTMACHER SYNDROME, PITT-HOPKINS SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, COFFIN-LOWRY SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, HOLOPROSENCEPHALY-3, DENYS-DRASH SYNDROME, MOWAT-WILSON SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MELNICK-FRASER SYNDROME, HAND-FOOT-UTERUS SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, HAY-WELLS SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, EMBERGER SYNDROME, WEAVER SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOSPADIAS 1, X-LINKED, NOONAN SYNDROME 10, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 46XY SEX REVERSAL 3, WAARDENBURG SYNDROME, TYPE 1, PREMATURE OVARIAN FAILURE 5, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PCWH SYNDROME, SPINOCEREBELLAR ATAXIA 17, ROBINOW SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FRASIER SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, 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, BRANCHIOOCULOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, NEPHROTIC SYNDROME, TYPE 4, ULNAR-MAMMARY SYNDROME, ESTROGEN RESISTANCE, UTERINE LEIOMYOMA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SPERMATOGENIC FAILURE 8, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, AU-KLINE SYNDROME

SOX9, ATRX, YAP1, SOX2, ERBB3, HNF1B, TFAP2A, OTX2, CREBBP, DVL3, IGF2, TGFB1, NR5A1, NOTCH1, HMGA2, PITX2, TBP, TBX3, AGT, GATA2, PPARG, HOXA13, HNF4A, NSD1, TCF4, BMP4, SIX1, BMP2, LZTR1, WNT5A, TAF4B, HNRNPK, ESR1, BRCA1, PGR, CCND1, ATXN1, WT1, GATA4, SOX18, CNBP, GLIS3, SUFU, EZH2, SOX11, PTEN, AR, EGFR, HNF1A, EFNB1, GSC, ZEB2, SMAD3, SALL1, NR3C1, RPS6KA3, FGF10, TP63, GATA3, SHH, SOX10, NOBOX, RB1, PAX3

MULLERIAN APLASIA AND HYPERANDROGENISM, PAPILLORENAL SYNDROME, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, VERHEIJ SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, GLUCOCORTICOID RESISTANCE, LYMPHEDEMA, HEREDITARY, ID, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASER SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {WILMS TUMOR SUSCEPTIBILITY-5}, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 46XY SEX REVERSAL 9, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MENTAL RETARDATION, X-LINKED 45, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PRIMROSE SYNDROME, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DEAFNESS, AUTOSOMAL DOMINANT 23, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CORNELIA DE LANGE SYNDROME 5, ABCD SYNDROME, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, PROUD SYNDROME, GUTTMACHER SYNDROME, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ESTROGEN RESISTANCE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LUJAN-FRYNS SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, COCKAYNE SYNDROME, TYPE A, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, SMITH-LEMLI-OPITZ SYNDROME, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, SPERMATOGENIC FAILURE, X-LINKED, 2, DIGEORGE SYNDROME, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, BECKWITH-WIEDEMANN SYNDROME, MEIER-GORLIN SYNDROME 5, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, C3 DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MOWAT-WILSON SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, ANDROGEN INSENSITIVITY, MICROVILLUS INCLUSION DISEASE, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?ABRUZZO-ERICKSON SYNDROME, PEUTZ-JEGHERS SYNDROME, PREMATURE OVARIAN FAILURE 7, SECKEL SYNDROME 2, LOEYS-DIETZ SYNDROME 3, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, DYSKERATOSIS CONGENITA, X-LINKED, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, VESICOURETERAL REFLUX 3, FANCONI RENOTUBULAR SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HAND-FOOT-UTERUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, SPINOCEREBELLAR ATAXIA 17, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, OHDO SYNDROME, X-LINKED, PRADER-WILLI SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COUSIN SYNDROME, COCKAYNE SYNDROME, TYPE B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, BARAITSER-WINTER SYNDROME 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, IVIC SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PREMATURE OVARIAN FAILURE 5, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, ?OROFACIAL CLEFT 15, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OCULOECTODERMAL SYNDROME, CILIARY DYSKINESIA, PRIMARY, 22, ATAXIA-TELANGIECTASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?WEBB-DATTANI SYNDROME, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, DE SANCTIS-CACCHIONE 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, NOONAN SYNDROME 10, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SPERMATOGENIC FAILURE 8, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AXENFELD-RIEGER SYNDROME, TYPE 1, FRAGILE X TREMOR/ATAXIA SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PREMATURE OVARIAN FAILURE 1, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, LIPOID ADRENAL HYPERPLASIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, DENYS-DRASH SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, CHOPS SYNDROME, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, RENPENNING SYNDROME, BARBER-SAY SYNDROME, OPITZ-KAVEGGIA SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, UTERINE LEIOMYOMA, FRASIER SYNDROME, WILSON-TURNER SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, PLEUROPULMONARY BLASTOMA, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RENAL ADYSPLASIA, ?SPERMATOGENIC FAILURE 13, MELNICK-FRASER 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, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, WARBURG MICRO SYNDROME 1, OPITZ GBBB SYNDROME, TYPE II, BRANCHIOOCULOFACIAL SYNDROME, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CROUZON SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CURRARINO SYNDROME, LADD SYNDROME, PALLISTER-HALL SYNDROME, 46,XX SEX REVERSAL, TYPE 2, PREIMPLANTATION EMBRYONIC LETHALITY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, BRACHIOOTIC SYNDROME 3, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, LEOPARD SYNDROME 1, DYSAUTONOMIA, FAMILIAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME

CA2, SLC34A1, BRCA2, DLL4, TLE6, SHH, WNT5A, APOE, SALL1, NR4A2, ACTB, TBX22, PGK1, CIITA, BMPR1A, CYP11B2, POU6F2, TBX3, AGT, PPARG, TCF4, SOX2, OTX2, KDM1A, HOXA13, CDC6, BTK, GJA1, TAF4B, KMT2A, STK11, ZBTB20, CBL, FMR1, WT1, EFEMP2, ERCC6, IKBKAP, CXCR4, HNF1B, BMPER, G6PC, NBN, RFXAP, NOTCH1, BMP4, CDC73, SNAI2, TEK, WNT4, SMAD4, NR5A1, GATA3, MAFB, SPECC1L, SF3B4, AQP2, RARB, PTCH1, ACE, PRSS2, ATRX, GRIP1, TBX15, RSPO1, SUFU, ERBB3, GLI2, FOXL2, LZTR1, CYP7B1, AR, VHL, KRT18, IGF2, GNAS, NOS3, CBX2, MAPT, BUB1B, GATA2, KIF5A, TAF6, LMNA, PAX2, PGR, AFF4, CDKN1B, DLX4, EYA1, GNAI2, CCND1, NR0B1, VPS33B, SALL4, ZIC3, KAT6B, ICK, CD44, VEGFC, HSPD1, ROR2, SPRY2, GUCY2C, TNNT2, NR3C2, GSC, ZEB2, FOXF1, CREBBP, PSAP, RPS6KA3, RBBP8, DKC1, DUSP6, ARNT2, TBX1, SLC26A3, GLIS3, NOBOX, PITX2, MECP2, TTR, ZNF81, ALPL, MYO5B, SLC35A2, SMARCA2, TWIST2, YAP1, MYH3, DVL3, ARX, SMAD9, C3, GHR, LMX1B, RAB3GAP1, CHD7, CASR, LEP, APC, PCK1, SOX9, PQBP1, HNF4A, BMP2, FOXP3, CRB2, SIX1, SOX17, FN1, KRAS, KANSL1, PRKDC, BRCA1, DVL1, ATXN1, HTR1A, MNX1, SOX18, NDN, HNRNPK, EZH2, GLI3, IFNG, ERCC8, PTPRO, CDKN1C, HNF1A, ZBTB16, HSPA9, PTEN, FGFR3, TFAP2A, HAMP, SOX10, HRAS, UMOD, COL2A1, AIRE, AIP, ZFPM2, MYH11, POLR3A, HDAC8, STUB1, PAX3, IRF6, ASXL1, DHCR7, LHCGR, PUF60, TGFB1, FLNA, PTPN11, TEX11, AMH, GATA6, TBP, CFTR, SPG7, FGF10, BMPR1B, NSD1, TP63, TBX18, PARK2, RFX5, RBMX, RFXANK, SOS1, MED12, ATM, FGFR2, SPAST, TNFSF11, RB1, STAR, GATA4, CNBP, TRH, F2, RET, KMT2D, CTCF, SOX11, EDNRB, HACE1, EGFR, GNRH1, ZMYND10, OCLN, SMAD3, NR3C1, HMGA2, HSPG2, ESR1, PIK3R1, TINF2, MTOR, SKI, DICER1

BASAL CELL NEVUS SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ANDROGEN INSENSITIVITY, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, PREMATURE OVARIAN FAILURE 7, BRANCHIOOCULOFACIAL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLUCOCORTICOID RESISTANCE, HYPOSPADIAS 1, X-LINKED, MYHRE SYNDROME, LOEYS-DIETZ SYNDROME 3, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MELNICK-FRASER SYNDROME, UTERINE LEIOMYOMA, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PRIMROSE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 46XY SEX REVERSAL 3, PIEBALDISM, ?CHARGE SYNDROME, CHARGE SYNDROME, ?PROGESTERONE RESISTANCE, SPERMATOGENIC FAILURE 8, AXENFELD-RIEGER SYNDROME, TYPE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY

SOX9, CHD7, SOX2, HTR1A, SUFU, TFAP2A, CREBBP, AR, NR5A1, HMGA2, ZBTB20, PITX2, PPARG, BMP2, PGR, CFTR, GATA4, GLIS3, CTCF, BMP4, SNAI2, RB1, SMAD3, SMAD4, NR3C1, ESR1, GATA3, EYA1

GITELMAN SYNDROME, OROTIC ACIDURIA, HYPOPHOSPHATEMIC RICKETS, ?PRUNE BELLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, NICOLAIDES-BARAITSER SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, BARTTER SYNDROME, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, NEPHROLITHIASIS, TYPE I, RUBINSTEIN-TAYBI SYNDROME, HYPERPROLINEMIA, TYPE I, CYSTINURIA, BARTTER SYNDROME, TYPE 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, RENAL TUBULAR ACIDOSIS, DISTAL, AR, AXENFELD-RIEGER SYNDROME, TYPE 1, FANCONI RENOTUBULAR SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, BARTTER SYNDROME, TYPE 4B, DIGENIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, DENT DISEASE, SPERMATOGENIC FAILURE 3, HYPERPARATHYROIDISM, NEONATAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), GLYCOGEN STORAGE DISEASE IC, AMYLOIDOSIS, FINNISH TYPE, HEPATIC ADENOMA, SOMATIC, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CYSTINOSIS, OCULAR NONNEPHROPATHIC, DIABETES INSIPIDUS, NEPHROGENIC, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

CA2, PRKDC, SLC34A1, EIF2B1, MECP2, APOA1, SMARCA2, HCCS, CLCNKA, CREBBP, SLC7A9, SLC34A3, PEX19, NOS3, MAPT, LPL, HSPG2, CASR, MTOR, SNCA, CHRM3, SLC4A4, SLC26A8, KISS1R, PITX2, SLC35A2, FGA, PRODH, SLC17A5, SLC12A3, CFTR, ERBB3, PRKCD, SLC37A4, CLCNKB, CLIC2, CLCN5, HNF1A, SLC4A1, HSPD1, PTPN11, AKR1C4, CTNS, EGFR, BSND, SLC6A20, SLC20A2, SLC3A1, SLC7A7, SLC9A3R1, GSN, GNRH1, UMPS, PIK3R1, GNAI2, SLC26A3, SLC6A19, SLC36A2, AQP2, SLC12A1

MULLERIAN APLASIA AND HYPERANDROGENISM, BASAL CELL NEVUS SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, VERHEIJ SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 46XY SEX REVERSAL 9, MICROPHTHALMIA, SYNDROMIC 6, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, DEAFNESS, AUTOSOMAL DOMINANT 23, BRACHIOOTIC SYNDROME 3, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, SCALP-EAR-NIPPLE SYNDROME, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, SHPRINTZEN-GOLDBERG SYNDROME, DIGEORGE SYNDROME, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HOLOPROSENCEPHALY-3, MELNICK-FRASER SYNDROME, PREMATURE OVARIAN FAILURE 7, SECKEL SYNDROME 2, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, COUSIN SYNDROME, IVIC SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 1, 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, NOONAN SYNDROME 10, 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, 46XY SEX REVERSAL 3, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, SPINOCEREBELLAR ATAXIA 17, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NAIL-PATELLA SYNDROME, FRASIER SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, BRANCHIOOCULOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 4, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PREIMPLANTATION EMBRYONIC LETHALITY, SPERMATOGENIC FAILURE 8, SMITH-KINGSMORE SYNDROME

SMARCA2, AR, ZFPM2, TBX15, SOX2, HTR1A, GLI2, SUFU, YAP1, PAX3, NR3C1, ASXL1, TLE6, TGFB1, PUF60, PAX2, PPARG, LMX1B, GATA4, CCND1, CHD7, TAF6, RBBP8, GATA2, VHL, TCF4, TBX18, NSD1, CREBBP, OTX2, FOXP3, MECP2, SIX1, MTOR, CDC6, BMP2, KRAS, SOX10, PRKDC, BRCA1, SALL1, PGR, LZTR1, ATXN1, PTRH2, NR0B1, WT1, BMP4, BCOR, SALL4, GLIS3, WNT4, EZH2, TBP, CTCF, HACE1, TFAP2A, KCTD1, HNF1A, SNAI2, ZBTB16, PTEN, SMAD3, SMAD4, NR5A1, ESR1, SHH, TBX1, PRDM8, RB1, SKI

BARAITSER-WINTER SYNDROME 1, PREMATURE OVARIAN FAILURE 7, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 46XY SEX REVERSAL 9, MICROPHTHALMIA, SYNDROMIC 6, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MACHADO-JOSEPH DISEASE, DYSAUTONOMIA, FAMILIAL, HEPATIC ADENOMA, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, PITT-HOPKINS SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, LOEYS-DIETZ SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LUJAN-FRYNS SYNDROME, VESICOURETERAL REFLUX 3, DENYS-DRASH SYNDROME, NEPHROTIC SYNDROME, TYPE 8, FLOATING-HARBOR SYNDROME, APPARENT MINERALOCORTICOID EXCESS, AXENFELD-RIEGER SYNDROME, TYPE 1, WAARDENBURG SYNDROME, TYPE 4C, EMBERGER SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, FRAGILE X SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 1, 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, HYPOSPADIAS 1, X-LINKED, NOONAN SYNDROME 10, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, PREMATURE OVARIAN FAILURE 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}, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OVARIAN DYSGENESIS 3, 46,XX SEX REVERSAL, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, BRANCHIOOCULOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 4, KARTAGENER SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, UTERINE LEIOMYOMA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, SPERMATOGENIC FAILURE 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME

PARK7, KMT2A, ACTB, CIITA, AGT, PPARG, MCIDAS, KDM1A, UBA1, CDC6, SOX10, B2M, FMR1, WT1, TRIM32, BMP4, ARHGDIA, CREBBP, GATA3, IKBKAP, SF3B4, SOX9, GRIP1, SOX2, LZTR1, AR, NOS3, LPIN1, GATA2, TAF6, RFXAP, CCND1, RB1, PQBP1, GJA1, SMARCA2, SMAD4, MECP2, YAP1, PITX2, VHL, HNF4A, RAPSN, HSD11B2, SOX17, AIP, BRCA1, ATXN1, MED12, EZH2, GLI3, ERCC8, HNF1A, HSPA9, PTEN, TFAP2A, LYZ, ASXL1, ZFPM2, HNRNPK, PAX3, NR3C1, ATXN2, NR5A1, BCL10, SRCAP, AMH, GATA4, KMT2D, FGF10, MAP3K1, TCF4, NOTCH1, ATM, CDKN1B, PSMC3IP, TBP, SOX11, HRAS, HACE1, ATXN3, SMAD3, BMPR1B, ESR1, SKI, MTOR, SHH

MULLERIAN APLASIA AND HYPERANDROGENISM, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, VERHEIJ SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 46XY SEX REVERSAL 9, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DYSAUTONOMIA, FAMILIAL, BRACHIOOTIC SYNDROME 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, SCALP-EAR-NIPPLE SYNDROME, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DENYS-DRASH SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, SECKEL SYNDROME 2, LOEYS-DIETZ SYNDROME 3, VESICOURETERAL REFLUX 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, FLOATING-HARBOR SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, FRAGILE X SYNDROME, SEBASTIAN SYNDROME, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, COUSIN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IVIC SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OCULOECTODERMAL SYNDROME, DIGEORGE SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, BALLER-GEROLD SYNDROME, SPINOCEREBELLAR ATAXIA 1, 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, HYPOSPADIAS 1, X-LINKED, NOONAN SYNDROME 10, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SPERMATOGENIC FAILURE 8, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TARP SYNDROME, 46XY SEX REVERSAL 3, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, 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}, MICROPHTHALMIA, SYNDROMIC 2, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, FRASIER SYNDROME, APPARENT MINERALOCORTICOID EXCESS, OHDO SYNDROME, X-LINKED, ROBINOW SYNDROME, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, NAIL-PATELLA SYNDROME, GLYCOGEN STORAGE DISEASE XI, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, SMITH-MAGENIS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LUJAN-FRYNS SYNDROME, BLOOM SYNDROME, 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, OVARIAN DYSGENESIS 3, PIEBALDISM, {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, BRANCHIOOCULOFACIAL SYNDROME, ANDROGEN INSENSITIVITY, SPINOCEREBELLAR ATAXIA 17, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 4, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, 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}, LADD SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, 46,XX SEX REVERSAL, TYPE 2, PREIMPLANTATION EMBRYONIC LETHALITY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME

CA2, PARK7, WNT5A, MED13L, SALL1, TBX18, ACTB, CIITA, RAI1, MUC1, TBX3, AGT, PPARG, OTX2, KDM1A, UBA1, CDC6, KMT2A, SOX10, WT1, FMR1, PTRH2, BCOR, TRIM32, NOTCH1, BMP4, BMPER, SNAI2, ARHGDIA, WNT4, CREBBP, GATA3, GNAI2, SF3B4, GLI2, SOX9, GRIP1, KRAS, ERBB3, LZTR1, AR, TLE6, NOS3, LPIN1, GATA2, TAF6, PAX2, PGR, RFXAP, COPA, IKBKAP, CCND1, NR0B1, RBM10, GLIS3, ROR2, KCTD1, ZBTB16, GSC, RBBP8, ERCC8, KAT6B, TBX1, SLC26A3, PRDM8, SLC35A2, VHL, GJA1, SMARCA2, SUFU, SMAD4, LDHA, PEX19, MECP2, LMX1B, CHD7, PITX2, PQBP1, MCIDAS, HNF4A, RAPSN, BMP2, FOXP3, BRCA1, SOX17, SOX2, PRKDC, SIX1, ATXN1, HTR1A, BMPR1A, EZH2, SKI, GLI3, RECQL4, HNF1A, HSPA9, EFNB1, PTEN, TBX15, TFAP2A, LYZ, RB1, AIP, ASXL1, ZFPM2, PRKCD, HNRNPK, PAX3, BMPR1B, ATXN2, PUF60, TGFB1, NR5A1, RFXANK, ATM, GATA4, TBP, MYH9, FGF10, BCL10, NSD1, MAP3K1, TCF4, HSD11B2, SRCAP, MED12, BLM, AMH, SALL4, CDKN1B, PSMC3IP, KMT2D, CTCF, SOX11, HRAS, HACE1, EGFR, ATXN3, NHP2, SMAD3, NR3C1, ESR1, PIK3R1, YAP1, MTOR, SHH

VERHEIJ SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DESMOID DISEASE, HEREDITARY, CARASIL SYNDROME, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HPRT-RELATED GOUT, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, OGDEN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MUCKLE-WELLS SYNDROME, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, PEPCK DEFICIENCY, MITOCHONDRIAL, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, PERRAULT SYNDROME 1, VON WILLEBRAND DISEASE, TYPE 1, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, BENIGN FAMILIAL HEMATURIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, POLYCYSTIC LIVER DISEASE, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, CARPENTER SYNDROME, HAY-WELLS SYNDROME, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EMBERGER SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TYROSINEMIA, TYPE I, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ?JOUBERT SYNDROME 22, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ?PREMATURE OVARIAN FAILURE 10, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, ?MECKEL SYNDROME 12, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, COWDEN SYNDROME 7, OPITZ-KAVEGGIA SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, MEIER-GORLIN SYNDROME 2, BARTTER SYNDROME, TYPE 4B, DIGENIC, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, HYPOMAGNESEMIA 6, RENAL, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PLEUROPULMONARY BLASTOMA, COENZYME Q10 DEFICIENCY, PRIMARY, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, OVARIAN DYSGENESIS 4, GLANZMANN THROMBASTHENIA, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 46,XX SEX REVERSAL, TYPE 2, MAY-HEGGLIN ANOMALY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATELOSTEOGENESIS, TYPE I, SENIOR-LOKEN SYNDROME 6, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, MELNICK-NEEDLES SYNDROME, NEPHROLITHIASIS, TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MEIER-GORLIN SYNDROME 1, PERRAULT SYNDROME 4, HYPOPHOSPHATASIA, INFANTILE, OROFACIODIGITAL SYNDROME I, PITT-HOPKINS SYNDROME, NEPHROTIC SYNDROME, TYPE 11, MEIER-GORLIN SYNDROME 5, SESAME SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, ?PERRAULT SYNDROME 2, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, DYSKERATOSIS CONGENITA, X-LINKED, NOONAN SYNDROME 9, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, JOUBERT SYNDROME 5, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, PSEUDOHYPOALDOSTERONISM, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 1, OPSISMODYSPLASIA, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, OROFACIODIGITAL SYNDROME V, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JOUBERT SYNDROME 10, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPEROXALURIA, PRIMARY, TYPE II, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, KINDLER SYNDROME, NOONAN SYNDROME 10, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, ESTROGEN RESISTANCE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, EPSTEIN SYNDROME, 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}, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, NEU-LAXOVA SYNDROME 1, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LARSEN SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYDATIDIFORM MOLE, RECURRENT, 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LOEYS-DIETZ SYNDROME 4, MICROVILLUS INCLUSION DISEASE, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, CALCIUM OXALATE UROLITHIASIS, DIARRHEA 6, WILSON DISEASE, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, COCKAYNE SYNDROME, TYPE B, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, 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, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DENT DISEASE, ?BARDET-BIEDL SYNDROME 19, SENIOR-LOKEN SYNDROME 5, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, BARDET-BIEDL SYNDROME 7, HOLOPROSENCEPHALY-3, MECKEL SYNDROME 10, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, OOCYTE MATURATION DEFECT 2, APPARENT MINERALOCORTICOID EXCESS, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, PREMATURE OVARIAN FAILURE 9, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, BERGER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, PREMATURE OVARIAN FAILURE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, 5-OXOPROLINASE DEFICIENCY, MEIER-GORLIN SYNDROME 4, ?N SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), NEPHRONOPHTHISIS 15, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, DE SANCTIS-CACCHIONE SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MCKUSICK-KAUFMAN SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MCARDLE DISEASE, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 4, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, OCCIPITAL HORN SYNDROME, APERT SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, STAR SYNDROME, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, BLEEDING DISORDER, PLATELET-TYPE, 20, ?HYPERPROLACTINEMIA, GLUCOCORTICOID RESISTANCE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, BARDET-BIEDL SYNDROME 6, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, STROMME SYNDROME, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, SECKEL SYNDROME 7, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-9, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, SECKEL SYNDROME 5, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, PERRAULT SYNDROME 5, GALACTOSEMIA, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, GLYCOGEN STORAGE DISEASE XI, CODAS SYNDROME, SPERMATOGENIC FAILURE 10, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GLUCOCORTICOID DEFICIENCY 4, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, UTERINE LEIOMYOMA, NEPHROTIC SYNDROME, TYPE 12, XANTHINURIA, TYPE I, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYOGLOBINURIA, RECURRENT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SMITH-KINGSMORE SYNDROME, SIALURIA, DENT DISEASE 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

CA2, TSC2, EDNRA, LMNA, GNAS, CIITA, BMPR1A, ATP6V1B1, RBBP8, LRRK2, UBA1, CDC6, PKD1, B2M, KIF7, PTRH2, FH, H6PD, FAM58A, ARSE, POR, OCRL, CREBBP, EFNB1, ETFDH, AQP2, ATRX, FGFR3, KL, ERBB3, GK, AR, LONP1, BUB1B, MTOR, TAF6, CBL, KCNJ1, MKKS, HSPD1, ROR2, MT-CYB, ABCD4, LARS2, TP63, DUSP6, PRPS1, NRAS, SMAD4, DVL3, CEP290, SLC34A1, CTDP1, PITX2, NARS2, BBS7, RIPK4, INPPL1, AIP, STAMBP, NPHS1, HNRNPK, EZH2, RBMX, DNAH1, ACTA2, HSPA9, GNE, PEX5, XRCC4, POLA1, CUL4B, EIF2B5, RAB18, PINK1, GRHPR, PIK3R2, SEC23A, PTPN11, LPL, MAPRE2, SPG7, IFT27, DMPK, MT-CO2, SRCAP, LIPE, CXCR4, COL4A3, GATA4, PARK2, NLRP5, SNRPB, ERCC6, LRP2, ATXN3, MYH9, DHCR24, PDSS2, SEMA3A, EXOC8, SOS2, ACE, ACTG2, DICER1, SKI, TRIM32, TREX1, WNT5A, NAA10, ACTB, SEMA3E, COL1A2, ALPL, HARS2, REN, FGA, MYO1E, WT1, NEK8, CDT1, NBN, SOS1, CDC73, TYROBP, BBS2, ARHGDIA, SPAST, MYH3, GNAI2, CLP1, KIF1A, SOX9, LDHA, TGFB2, MAP2K2, CLCNKA, NOTCH1, GPI, POLG, PRODH, B9D2, PRKACG, RBM10, VPS33B, DYNC2H1, RAB40AL, FANCA, XDH, RB1, FGF23, CLCNKB, BRAF, PIGR, ORC4, BBS12, DPH1, UBE2A, DNAH8, FLT4, SMAD9, NIN, BMP2, HRAS, HSD11B2, SOX2, TXNL4A, FGFR1, DVL1, ATXN1, APOA1, COQ9, CISD2, TUBB8, CLIC2, BSND, SARS2, NF1, GUCY1A3, KIT, DHODH, PEX1, DLG3, VPS45, KRT8, NR3C1, PRKCSH, ITGB4, GATA6, KMT2D, EIF2AK3, TSC1, MAP3K1, MUT, RECQL4, PLG, ETFA, BLM, ACTN4, OFD1, APC, SMAD3, ALDH18A1, NLRP3, C10orf2, ATIC, PDE4D, DDX59, F2, DNAH11, SALL1, IFIH1, CENPF, PEX6, AP2S1, ATP6V1B2, AGT, PLOD2, LEP, KDM1A, SNCA, DNAH5, NLRP7, STK11, FMR1, PDE6D, PPP1R15B, FANCM, PIK3CA, ABCD1, SPAG1, TEK, PRKAG2, SLFN14, GLI2, FANCD2, GRIP1, GBE1, HTR1A, SCNN1G, EGFR, LZTR1, CLCN5, IGF2, PGK1, NOS3, DCLRE1C, CCND1, MAPT, CAD, GATA2, KIF5A, SCNN1A, NNT, GALT, CEP152, PLOD1, ICK, ANLN, CD44, SPRY2, GUCY2C, GSC, RPS6KA3, WAS, HAO1, DIS3L2, ATL1, ADCY10, KIF14, AMHR2, OAS1, PAX2, LMX1B, HLA-DRB1, FLNA, VHL, BCS1L, RAPSN, ARL6, MCM9, BRCA1, FN1, CNNM2, PSAP, SMARCAL1, ATP5A1, PHGDH, DNA2, POLD1, KISS1R, RAD51C, PTEN, TRPV4, SLC9A3R1, GSN, TNNT2, FAH, SSR4, THOC2, HSD17B4, PRKCD, STUB1, EIF2B1, PUF60, BCL10, KCNJ10, MED25, PANK2, TBP, ATP7A, TGFB1, DKC1, NEK1, TCF4, PCNT, CBX2, MARS2, STRADA, SEPT12, RIT1, F10, COQ6, OCLN, HTRA1, IRF6, PRLR, TINF2, FLNB, HFM1, BRCA2, TRNT1, OPLAH, APRT, CNBP, PIGT, DNM2, ITGB3, STK10, PPARG, AGTR1, PRKAR1A, EIF2B2, HPRT1, BTK, CLASP1, NEU1, BMP4, UMPS, WNT7A, CHD7, KRAS, LMNB1, LPIN1, PGR, AGXT, COPA, KRT18, IKBKAP, IFNG, NUP107, ZBTB16, SF3B4, FERMT1, IQCB1, SEC23B, PCK1, MCM8, LARS, TTR, GNA11, GJA1, SMARCA2, INPP5E, HNF4A, INF2, VWF, MECP2, CASR, MYO5B, CEP164, PYGM, BBS10, PRKDC, CFTR, MED12, SEC63, ABCC6, NUP93, CDKN1C, ATP7B, MUSK, ITPR3, CHRM3, DSTYK, YAP1, DNAJC13, POLR3A, RAB23, ATR, ATXN2, ATM, ETFB, ESR1, ORC1, BICC1, INSR, FGFR2, GLUD2, CDKN1B, FANCC, RET, PEX19, DGKE, HACE1, GNRH1, NHP2, MYH11, BMPR1B, PCK2, PIK3R1, PC, SHH

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, DESMOID DISEASE, HEREDITARY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CARASIL SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HOLOPROSENCEPHALY-9, HPRT-RELATED GOUT, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RENAL TUBULAR DYSGENESIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OCCIPITAL HORN SYNDROME, PEPCK DEFICIENCY, MITOCHONDRIAL, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, PERRAULT SYNDROME 1, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, BENIGN FAMILIAL HEMATURIA, POLYCYSTIC LIVER DISEASE, FLOATING-HARBOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PRADER-WILLI SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, HAY-WELLS SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EMBERGER SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, LUSCAN-LUMISH SYNDROME, TYROSINEMIA, TYPE I, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ?JOUBERT SYNDROME 22, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, MEIER-GORLIN SYNDROME 2, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COENZYME Q10 DEFICIENCY, PRIMARY, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MCARDLE DISEASE, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, CAUDAL REGRESSION SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 46,XX SEX REVERSAL, TYPE 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATELOSTEOGENESIS, TYPE I, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLANZMANN THROMBASTHENIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, MUCOLIPIDOSIS II ALPHA/BETA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, ?PERRAULT SYNDROME 2, PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM, PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, CUTIS LAXA, AUTOSOMAL DOMINANT 3, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, DYSKERATOSIS CONGENITA, X-LINKED, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, PSEUDOHYPOALDOSTERONISM, TYPE I, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, OPSISMODYSPLASIA, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, MENTAL RETARDATION, X-LINKED 98, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JOUBERT SYNDROME 10, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, EVEN-PLUS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, KINDLER SYNDROME, NOONAN SYNDROME 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, 46XY SEX REVERSAL 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ALAGILLE SYNDROME, EPSTEIN SYNDROME, 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}, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, ROBINOW SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LARSEN SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, SECKEL SYNDROME 1, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LESCH-NYHAN SYNDROME, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?OSTEOGENESIS IMPERFECTA, TYPE X, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SEA-BLUE HISTIOCYTE DISEASE, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LOEYS-DIETZ SYNDROME 4, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, NEPHROTIC SYNDROME, TYPE 9, DIARRHEA 6, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, KAUFMAN OCULOCEREBROFACIAL SYNDROME, SENIOR-LOKEN SYNDROME 5, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PCWH SYNDROME, JOHANSON-BLIZZARD SYNDROME, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NORUM DISEASE, ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, HOLOPROSENCEPHALY-3, MECKEL SYNDROME 10, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, 3-M SYNDROME 1, ROBERTS SYNDROME, MYOTONIC DYSTROPHY 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, BALLER-GEROLD SYNDROME, VISCERAL MYOPATHY, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, BERGER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, PREMATURE OVARIAN FAILURE 1, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, SPERMATOGENIC FAILURE 9, MEIER-GORLIN SYNDROME 4, ?N SYNDROME, ALPORT SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, OPITZ-KAVEGGIA SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SESAME SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MCKUSICK-KAUFMAN SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, SPERMATOGENIC FAILURE 8, APERT SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYMPHEDEMA, HEREDITARY, ID, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?HYPERPROLACTINEMIA, GLUCOCORTICOID RESISTANCE, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, CARDIOFACIOCUTANEOUS SYNDROME, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, STROMME SYNDROME, PETERS-PLUS SYNDROME, TRIGONOCEPHALY 1, BURN-MCKEOWN SYNDROME, RUBINSTEIN-TAYBI SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PREMATURE OVARIAN FAILURE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, MUCKLE-WELLS SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {BUDD-CHIARI SYNDROME}, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, SECKEL SYNDROME 5, RAINE SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, GENITOPATELLAR SYNDROME, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, PERRAULT SYNDROME 5, SECKEL SYNDROME 9, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GALACTOSEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, GLYCOGEN STORAGE DISEASE XI, MYOPATHY DUE TO CPT II DEFICIENCY, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, UTERINE LEIOMYOMA, MENTAL RETARDATION, X-LINKED 90, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, HAMAMY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYOGLOBINURIA, RECURRENT, KABUKI SYNDROME 1, SMITH-KINGSMORE SYNDROME, SIALURIA, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

TSC2, SLC34A1, CIITA, COL3A1, ATP6V1B1, TP63, LRRK2, UBA1, CDC6, B2M, ESCO2, FH, TRIM32, G6PC, TYROBP, CREBBP, EFNB1, TRMT5, AQP2, KL, ERBB3, GK, AR, BUB1B, MTOR, TAF6, BMPR1A, IFNG, CBL, CCND1, AP2S1, VEGFC, HSPD1, ROR2, TNNT2, NAT8L, DUSP6, MT-CO1, DPY19L2, SLC35A2, PRPS1, NRAS, SUFU, XYLT2, SETD2, DVL3, CHST14, TNFSF11, CTDP1, PITX2, RIPK4, INPPL1, AIP, HDAC8, NPHS1, PINK1, EZH2, RECQL4, ACTA2, HSPA9, GNE, PEX5, XRCC4, KIAA2022, POLA1, HMBS, CUL4B, PIGA, LRP5, RAB18, HNRNPK, PIGN, PIK3R2, SEC23A, NPHP1, SRCAP, CXCR4, GATA4, DMPK, SPRY4, MT-CO2, MED25, LCAT, COL4A3, HMGA2, ZMPSTE24, PARK2, FANCL, LRP2, ATXN3, MYH9, SARS2, PDSS2, NR3C1, TSC1, PRDM5, SKI, DNM2, IRX5, TRAIP, CPT2, POMT1, F5, PGK1, ALPL, B3GLCT, PTDSS1, HARS2, ITGA2B, BAAT, COL4A5, NEK8, CDT1, NBN, CDC73, ARHGDIA, USP8, MYH3, GNAI2, CUL7, SF3B4, FIG4, SOX9, TGFB2, MAP2K2, TFAP2A, NOTCH1, TTC37, SMAD9, FGFR1, B9D2, PRKACG, SCP2, KAT6B, FANCA, RB1, FGF23, FANCD2, BRAF, PIGR, ORC4, DPH1, UBE2A, ALG1, FLT4, GNPTAB, UBR1, UBE3B, B4GALNT1, BMP2, HRAS, NDN, RSPO1, TXNL4A, DVL1, ATXN1, APOA1, ETFA, POLG, CLIC2, SNCA, DHCR24, NF1, KCNH1, KIT, OCLN, DLG3, NR5A1, XYLT1, KMT2D, DTNBP1, EIF2AK3, MAP3K1, MUT, NOTCH2, PLG, ADCK4, BLM, ACTN4, OFD1, APC, VPS35, SMAD3, ALDH18A1, HSPG2, ESR1, C10orf2, ATIC, LMNA, F2, CENPF, CTSA, MUC1, AGT, LEP, KDM1A, ZNF423, PCK2, KMT2A, STK11, LIPE, PDE6D, FANCM, PIK3CA, PTPN11, LTBP4, JAG1, TEK, NAA10, GATA3, COL2A1, GLI2, RARB, ACTB, GRIP1, GBE1, SCNN1G, EGFR, LZTR1, IGF2, NOS3, MAPT, CAD, GATA2, KIF5A, SCNN1A, GALT, CEP152, SNCAIP, ICK, TALDO1, CD44, FKBP14, SPRY2, GUCY2C, GSC, RPS6KA3, WAS, FAM20C, ITGB3, DKC1, HPRT1, AMHR2, OAS1, MKKS, PAX2, LMX1B, FLNA, VHL, BCS1L, BRCA1, PRKAR1A, FN1, PSAP, COQ2, ATP5A1, DNA2, POLD1, VANGL1, PIGO, PTEN, FGFR3, SLC9A3R1, GSN, SOX10, EIF2B5, FAH, SERPINC1, PRKCD, STUB1, EIF2B1, GALNT3, WNT3, BCL10, KCNJ10, CPT1C, PANK2, TNFAIP3, TBP, ATP7A, FGF10, TGFB1, STAMBP, NEK1, APOE, SOS1, AMH, CBX2, GBA, FASTKD2, STRADA, TRH, RET, RIT1, F10, COQ6, AGPAT2, HTRA1, IRF6, PRLR, TINF2, FLNB, PRDM8, BRCA2, TRNT1, APRT, CNBP, PIGT, SEMA3A, GLB1, STK10, PPARG, AGTR1, STT3B, EIF2B2, BTK, CLASP1, NEU1, SERPINH1, BMP4, SNAI2, SMAD4, UMPS, PTCH1, WNT7A, CHD7, KRAS, ZBTB16, LMNB1, TRMT10A, PGR, AGXT, COPA, KRT18, IKBKAP, HS6ST1, NR0B1, ELOVL4, FMR1, CD81, POMT2, CLP1, NOTCH3, FERMT1, IQCB1, SEC23B, TTR, DPAGT1, GJA1, SMARCA2, INPP5E, HNF4A, LDHA, MECP2, CASR, PYGM, FOXP3, PRKDC, EXT2, WNT5A, CFTR, MED12, MAGEL2, CDKN1C, MUSK, ITPR3, DSTYK, YAP1, POLR3A, SMS, HCCS, BMPR1B, HSD17B4, DHCR7, ATM, NSD1, NLRP3, ORC1, INSR, EIF2B3, FGFR2, PACS1, CDKN1B, FANCC, GPC3, PEX19, PNP, DGKE, HACE1, GNRH1, MYH11, ATR, B4GAT1, PIK3R1, PC, COX10, PORCN, SHH

SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HARTSFIELD SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, EPSTEIN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, SHPRINTZEN-GOLDBERG SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MAY-HEGGLIN ANOMALY, SHORT SYNDROME, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, CROUZON SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, RENAL ADYSPLASIA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, COWDEN SYNDROME 7, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, SEBASTIAN SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, PIEBALDISM, FECHTNER SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, RABSON-MENDENHALL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, TRIGONOCEPHALY 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, COFFIN-LOWRY SYNDROME

F2, PSAP, ERBB3, FGFR2, MAP2K2, NEK1, FLT4, IGF2, PTPN11, YAP1, MYH9, AGT, FGFR1, MAP3K1, INSR, HRAS, PLG, BTK, PRKDC, COPA, PACS1, DSTYK, CCND1, PRKCD, RET, POLD1, ROR2, EGFR, SPRY2, ZBTB16, TEK, MUSK, FGFR3, RPS6KA3, FGF10, TP63, SKI, SEC23B, KIT, RB1, PIK3R1

BARAITSER-WINTER SYNDROME 1, RENAL GLUCOSURIA, HYPOMAGNESEMIA 2, RENAL, OTOPALATODIGITAL SYNDROME, TYPE II, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, WILSON DISEASE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACRODERMATITIS ENTEROPATHICA, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, HYPOPHOSPHATASIA, INFANTILE, FRONTOMETAPHYSEAL DYSPLASIA, TRIGONOCEPHALY 1, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, HARTSFIELD SYNDROME, PAROXYSMAL EXTREME PAIN DISORDER, BARTTER SYNDROME, TYPE 2, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, OCCIPITAL HORN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SEBASTIAN SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SPINOCEREBELLAR ATAXIA 13, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, NEPHRONOPHTHISIS 1, JUVENILE, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, SENIOR-LOKEN SYNDROME-1, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, OLMSTED SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, JOUBERT SYNDROME 4, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, 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}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, GLYCOGEN STORAGE DISEASE XI, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, HYPERALDOSTERONISM, FAMILIAL, TYPE III, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, SPERMATOGENIC FAILURE 7, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MAY-HEGGLIN ANOMALY, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ULNAR-MAMMARY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 3MC SYNDROME 1, HYPOMAGNESEMIA 3, RENAL, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPINOCEREBELLAR ATAXIA 42, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1

CA2, TSC2, EIF2B1, MASP1, CACNA1G, SMAD3, PKD1, KCNJ10, ERBB3, CATSPER1, HNF1B, ICK, PTEN, SLC9A6, LDHA, NALCN, SLC34A3, TGFB1, SCNN1B, NOS3, LMX1B, SLC34A1, CCND1, TBX3, ATP7A, AGT, SMAD9, PITX2, FGFR1, CHRM3, KCNJ5, SLC40A1, ITPR3, SCNN1G, SLC4A4, SLC39A4, SCN9A, FN1, GJA1, KCNH1, SOS1, ESR1, B2M, PRKACG, KCNJ1, NPHP1, ATXN1, PRKCD, STAR, SEC63, LRP2, SLC5A2, SCNN1A, TALDO1, SLC9A3R1, PTPN11, SLC6A20, SLC20A2, HSPD1, TRPV3, NPHS2, PRODH, EGFR, ALPL, ATP7B, MYH9, HCCS, KCNC3, ACTB, NIPA1, TRPV4, CLDN16, FXYD2, CFTR, EFEMP2, MAFB, FLNA, SLC6A19, PDE4D, CACNA1D, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, OTOPALATODIGITAL SYNDROME, TYPE II, VON WILLEBRAND DISEASE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, WHIM SYNDROME, PIEBALDISM, RESTRICTIVE DERMOPATHY, LETHAL, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, PAPILLORENAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, CUTIS LAXA, AD, EHLERS-DANLOS SYNDROME, TYPE VIIC, ADAMS-OLIVER SYNDROME 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 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, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, CALCIUM OXALATE UROLITHIASIS, FRONTOMETAPHYSEAL DYSPLASIA, AU-KLINE SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, {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

WNT7A, PRSS2, ADAMTS13, TNFSF11, VHL, FBLN5, PRKCD, HNRNPK, SMAD4, VWF, TGFB1, PAX2, CXCR4, PHEX, SPG7, AGT, GPI, BMP2, NOTCH1, FLNA, FN1, PRKDC, ECE1, ZMPSTE24, CD44, SPRY2, ADAMTS2, BMP4, BMPER, MBTPS2, SNAI2, GNRH1, DLL4, ECEL1, PTEN, PIK3R1

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, BARAITSER-WINTER SYNDROME 1, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, FACTOR X DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VON WILLEBRAND DISEASE, TYPE 1, ENTEROKINASE DEFICIENCY, HOLOPROSENCEPHALY-3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, LOEYS-DIETZ SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PERRAULT SYNDROME 3, HEMOCHROMATOSIS, TYPE 2B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, ANDROGEN INSENSITIVITY, 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, DESMOID DISEASE, HEREDITARY, VISCERAL MYOPATHY, COMPLEMENT FACTOR I DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, 3MC SYNDROME 1, CARASIL SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, C1R/C1S DEFICIENCY, COMBINED, {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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HEPATIC ADENOMA, SOMATIC, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MYHRE SYNDROME, CYSTINOSIS, OCULAR NONNEPHROPATHIC, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, GALACTOSIALIDOSIS, SEA-BLUE HISTIOCYTE DISEASE, CODAS SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, FACTOR VII DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMITH-KINGSMORE SYNDROME, {BUDD-CHIARI SYNDROME}

APOE, PRSS2, AR, F2, MYH11, VWF, MASP1, PRSS1, SMAD4, GP9, ACTB, FLT4, TGFB1, IGF2, NOS3, C1QC, C1R, TMPRSS15, AGT, MTOR, LEP, BMP2, FKBP14, PLG, FN1, CFB, FGA, CBL, LONP1, DVL1, CFI, IFNG, BMP4, TRH, NEU1, C3, APC, HTRA1, CLPP, CTNS, COL1A2, EGFR, HNF1A, ACTA2, ADA, CTRC, SMAD3, CREBBP, HAMP, F7, HSPG2, CD46, SHH, LYZ, F5, F10, HFE, CTSA, RB1, ANXA5

SHORT SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, RABSON-MENDENHALL SYNDROME, ESTROGEN RESISTANCE, PITUITARY ADENOMA, ACTH-SECRETING, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, RENAL TUBULAR DYSGENESIS, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SMITH-KINGSMORE SYNDROME

LHCGR, REN, AGT, MTOR, INSR, ESR1, IGF2, GNAS, PIK3R1

SHORT SYNDROME, BARAITSER-WINTER SYNDROME 1, RABSON-MENDENHALL SYNDROME, CRYPTORCHIDISM, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLUCOCORTICOID RESISTANCE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?PROGESTERONE RESISTANCE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OPSISMODYSPLASIA, GLANZMANN THROMBASTHENIA, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LEPRECHAUNISM, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PIEBALDISM, RENAL ADYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

EGFR, F2, ITGB3, PIK3R1, MUSK, ACTB, CBL, INSL3, LEP, PTPN11, PGR, RET, KIT, NR3C1, IGF2, DOK7, INPPL1, INSR

PAPILLORENAL SYNDROME, BASAL CELL NEVUS SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, DYSKERATOSIS CONGENITA, X-LINKED, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, HOLOPROSENCEPHALY-9, ABCD SYNDROME, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, PREMATURE OVARIAN FAILURE 5, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GUTTMACHER SYNDROME, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SHPRINTZEN-GOLDBERG SYNDROME, DIGEORGE SYNDROME, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?PERRAULT SYNDROME 2, ULNAR-MAMMARY SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, HOLOPROSENCEPHALY-3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MOWAT-WILSON SYNDROME, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MICROVILLUS INCLUSION DISEASE, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, PARKINSON DISEASE 1, UTERINE LEIOMYOMA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, DENYS-DRASH SYNDROME, HAND-FOOT-UTERUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, SEBASTIAN SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COUSIN SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, ROBINOW SYNDROME, HAY-WELLS SYNDROME, IVIC SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, CULLER-JONES SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, VESICOURETERAL REFLUX 3, ATAXIA-TELANGIECTASIA, WHIM SYNDROME, GLYCOGEN STORAGE DISEASE IA, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, NOONAN SYNDROME 10, SPERMATOGENIC FAILURE 8, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOTONIC DYSTROPHY 2, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 46XY SEX REVERSAL 3, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CORNELIA DE LANGE SYNDROME 5, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PROUD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LIPOID ADRENAL HYPERPLASIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, FRASIER SYNDROME, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OPITZ-KAVEGGIA SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, SMITH-MAGENIS SYNDROME, WILSON-TURNER SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPERMATOGENIC FAILURE 13, MELNICK-FRASER SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, {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, OPITZ GBBB SYNDROME, TYPE II, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, ANDROGEN INSENSITIVITY, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, MAY-HEGGLIN ANOMALY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NEPHROTIC SYNDROME, TYPE 4, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, 46,XX SEX REVERSAL, TYPE 2, PREIMPLANTATION EMBRYONIC LETHALITY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BRACHIOOTIC SYNDROME 3, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CODAS SYNDROME, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME

FEZF1, F2, WNT5A, CNBP, NR4A2, PGK1, CIITA, RAI1, MUC1, CYP11B2, TBX3, AGT, PPARG, HOXA13, OTX2, KDM1A, HARS2, CDC6, BTK, KMT2A, TAF4B, WT1, BCOR, SUFU, G6PC, BMP4, CDC73, SNAI2, PEX2, DLL4, SALL1, CREBBP, GATA3, COL2A1, SPECC1L, GLI2, RARB, PTCH1, SOX9, GRIP1, SOX2, ERBB3, LZTR1, CYP7B1, AR, KRT18, IGF2, NOTCH1, CBX2, BUB1B, GATA2, TAF6, MECP2, PGR, STAR, LONP1, IKBKAP, CCND1, IFNG, ICK, GLIS3, SPRY2, GSC, TP63, TBX1, KAT6B, NOBOX, PITX2, ALPL, DKC1, SMARCA2, HNF1B, SMAD4, SMAD9, ARX, PAX2, CHD7, FOXF1, PCK1, MYO5B, HNF4A, BMP2, FOXP3, CRB2, BRCA1, SOX17, PRKDC, SIX1, CFTR, ATXN1, PRKCD, MED12, SOX18, HNRNPK, EZH2, SKI, GLI3, EYA1, POLD1, RBMX, SNCA, CDKN1C, HNF1A, HSPA9, PTEN, TBX15, TFAP2A, HAMP, ZEB2, RB1, AIRE, FLNA, HDAC8, STUB1, PAX3, IRF6, NR5A1, TGFB1, TLE6, PTPN11, ATM, GATA6, TBP, MYH9, FGF10, BMPR1B, NSD1, NLRP3, TBX18, TCF4, CXCR4, FGFR2, TINF2, TNFSF11, SALL4, CDKN1B, GATA4, TRH, ERCC6, RET, KMT2D, CTCF, SOX11, EDNRB, HACE1, EGFR, SMAD3, NR3C1, HMGA2, ESR1, PIK3R1, YAP1, SOX10, PRDM5, MTOR, SHH

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, STAR SYNDROME, BARAITSER-WINTER SYNDROME 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, DIARRHEA 6, SENIOR-LOKEN SYNDROME 4, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, CAUDAL REGRESSION 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, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, PITT-HOPKINS SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEPHRONOPHTHISIS 4, MEIER-GORLIN SYNDROME 5, OCULODENTODIGITAL DYSPLASIA, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, MOWAT-WILSON SYNDROME, ANDROGEN INSENSITIVITY, MICROVILLUS INCLUSION DISEASE, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PEUTZ-JEGHERS SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SHORT SYNDROME, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SPINOCEREBELLAR ATAXIA 17, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NOONAN SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, 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, SECKEL SYNDROME 5, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, NOONAN SYNDROME 10, CLOVE SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PREMATURE OVARIAN FAILURE 1, EPSTEIN SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FRAGILE X TREMOR/ATAXIA SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?N SYNDROME, ROBINOW SYNDROME, ?PRUNE BELLY SYNDROME, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, WOLCOTT-RALLISON SYNDROME, PIEBALDISM, DIABETES INSIPIDUS, NEPHROGENIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MENTAL RETARDATION, X-LINKED 90, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, 46,XX SEX REVERSAL, TYPE 2, LIPOID ADRENAL HYPERPLASIA, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CILIARY DYSKINESIA, PRIMARY, 29, SPINOCEREBELLAR ATAXIA 42, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEOPARD SYNDROME 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

TSC2, FAM58A, KIF5A, PKD1, SALL1, TBCE, ACTB, PGK1, AP2S1, TBX3, AGT, PPARG, AGTR1, PRKAR1A, NPHP4, CDC6, WNT5A, BTK, STK11, FMR1, ITGA3, BMP4, PROK2, DNM2, PIK3CA, EFEMP2, TEK, CREBBP, ARHGDIA, PRKAG2, GATA3, GNAI2, SF3B4, MUSK, SOX9, VANGL1, ATRX, GRIP1, SOX2, DSP, MAP2K2, LZTR1, AR, ZBTB16, NOS3, MAPT, BUB1B, MTOR, EDNRA, PAX2, MECP2, PGR, STAR, CEP152, CBL, COL2A1, CCND1, NR0B1, ICK, TALDO1, DVL1, SPRY2, CASR, GUCY2C, GSC, RPS6KA3, WAS, DUSP6, SEC23B, ITGB3, CACNA1G, GJA1, SUFU, SMAD4, DVL3, GHR, FLNA, CCNO, CTDP1, EYA1, PITX2, MYO5B, USP9X, CEP164, FOXP3, HRAS, BRCA1, FN1, RIPK4, PRKACG, DTNBP1, ATXN1, EGFR, PINK1, EZH2, AQP2, SNCA, PEX13, ACTA2, PTEN, TRPV4, GSN, CHRM3, ZEB2, KIT, RB1, POLA1, DLG3, DNAJC13, MYH11, PRKCD, STUB1, NR3C1, PRKCSH, BCL10, PTPN11, ATM, GATA6, TBP, CFTR, MYH9, TGFB1, TSC1, MAP3K1, PARK2, TCF4, NOTCH1, SOS1, LIPE, BLM, BRAF, CDKN1B, DOK7, TRH, APC, F10, HACE1, LRP2, ATXN3, EIF2AK3, OCLN, SMAD3, ATR, CAD, ESR1, SKI, TINF2, PIK3R1

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, STAR SYNDROME, BARAITSER-WINTER SYNDROME 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BASAL CELL NEVUS SYNDROME, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, DIARRHEA 6, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, CAUDAL REGRESSION 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, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, PITT-HOPKINS SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, MEIER-GORLIN SYNDROME 5, OCULODENTODIGITAL DYSPLASIA, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, MOWAT-WILSON SYNDROME, ANDROGEN INSENSITIVITY, MICROVILLUS INCLUSION DISEASE, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PEUTZ-JEGHERS SYNDROME, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SPINOCEREBELLAR ATAXIA 17, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, NOONAN SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, OCULOECTODERMAL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, NEPHROTIC SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, 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, SECKEL SYNDROME 5, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, NOONAN SYNDROME 10, CLOVE SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, HYPERPARATHYROIDISM, NEONATAL, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PREMATURE OVARIAN FAILURE 1, EPSTEIN SYNDROME, {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, FRAGILE X TREMOR/ATAXIA SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?N SYNDROME, ROBINOW SYNDROME, ?PRUNE BELLY SYNDROME, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, BLOOM SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, WOLCOTT-RALLISON SYNDROME, SPERMATOGENIC FAILURE 7, PIEBALDISM, DIABETES INSIPIDUS, NEPHROGENIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MENTAL RETARDATION, X-LINKED 90, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, 46,XX SEX REVERSAL, TYPE 2, LIPOID ADRENAL HYPERPLASIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BANNAYAN-RILEY-RUVALCABA SYNDROME, CILIARY DYSKINESIA, PRIMARY, 29, SPINOCEREBELLAR ATAXIA 42, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

TSC2, FAM58A, KIF5A, PKD1, SALL1, TBCE, ACTB, PGK1, AP2S1, TBX3, AGT, DTNBP1, PPARG, AGTR1, SOX2, PRKAR1A, CDC6, KMT2A, BTK, STK11, FMR1, ITGA3, BMP4, PROK2, DNM2, PIK3CA, EFEMP2, TEK, CREBBP, ARHGDIA, PRKAG2, GATA3, GNAI2, SF3B4, MUSK, SOX9, VANGL1, PAX2, ATRX, GRIP1, KRAS, CBL, MAP2K2, LZTR1, AR, ZBTB16, NOS3, MAPT, BUB1B, MTOR, EDNRA, TAF6, MECP2, PGR, COPA, STAR, CEP152, DSP, COL2A1, CCND1, NR0B1, ICK, TALDO1, SPRY2, CASR, GUCY2C, GSC, RPS6KA3, WAS, DUSP6, SEC23B, ITGB3, CACNA1G, GJA1, CATSPER1, SUFU, SMAD4, DVL3, GHR, FLNA, CCNO, CTDP1, EYA1, PITX2, MYO5B, USP9X, CEP164, FOXP3, HRAS, BRCA1, FN1, RIPK4, PRKACG, PRKDC, WNT5A, CFTR, ATXN1, NPHS1, EGFR, PINK1, EZH2, AQP2, SNCA, PEX13, ACTA2, PTEN, TRPV4, PTPN22, GSN, CHRM3, ZEB2, KIT, RB1, POLA1, DLG3, DNAJC13, SMAD3, PRKCD, STUB1, ATR, PRKCSH, BCL10, PTPN11, ATM, GATA6, TBP, DVL1, MYH9, TGFB1, TSC1, MAP3K1, PARK2, TCF4, NOTCH1, SOS1, LIPE, BLM, BRAF, CDKN1B, TNFAIP3, DOK7, STRADA, TRH, APC, F10, HACE1, LRP2, ATXN3, EIF2AK3, OCLN, MYH11, NR3C1, CAD, ESR1, SKI, TINF2, PIK3R1

HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, ROBINOW SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, SESAME SYNDROME, HOLOPROSENCEPHALY-3, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, HYPOURICEMIA, RENAL, HAJDU-CHENEY SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 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, 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, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MELNICK-NEEDLES SYNDROME, ?MECKEL SYNDROME 12, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {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, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DIABETES INSIPIDUS, NEPHROGENIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, LEOPARD SYNDROME 1, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, FRONTOMETAPHYSEAL DYSPLASIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ALAGILLE SYNDROME 2

SLC34A1, DLG3, KIF14, MAP2K2, DVL3, SLC22A12, KCNJ10, TGFB1, PEX19, PTPN11, MUC1, F2, CASR, GJA1, PEX5, BMP2, NOTCH2, FLNA, WNT5A, CCND1, ACTN4, DVL1, PARK2, LRP2, GSC, GLI3, PTEN, HRAS, EGFR, AQP2, SLC9A3R1, CFTR, GNAI2, JAM3, MUSK, SHH

MULLERIAN APLASIA AND HYPERANDROGENISM, BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DIABETES INSIPIDUS, NEPHROGENIC, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, EMBERGER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, FECHTNER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HERMANSKY-PUDLAK SYNDROME 1, BRACHIOOTIC SYNDROME 3, BENIGN FAMILIAL HEMATURIA, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FAMILIAL MEDITERRANEAN FEVER, AR, ?PROGESTERONE RESISTANCE, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, COENZYME Q10 DEFICIENCY, PRIMARY, 3, STROMME SYNDROME, PITT-HOPKINS SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, LYMPHEDEMA, HEREDITARY, IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, COCKAYNE SYNDROME, TYPE A, RENAL TUBULAR DYSGENESIS, ALAGILLE SYNDROME 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, CORNELIA DE LANGE SYNDROME 1, 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, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ALPORT SYNDROME, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, MEIER-GORLIN SYNDROME 5, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SECKEL SYNDROME 1, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, HYPOURICEMIA, RENAL, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, ABCD SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MICROVILLUS INCLUSION DISEASE, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DEMENTIA, FAMILIAL, NONSPECIFIC, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, NEPHROTIC SYNDROME, TYPE 8, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SPINOCEREBELLAR ATAXIA 17, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, OHDO SYNDROME, X-LINKED, AMYLOIDOSIS, FINNISH TYPE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ?TETRA-AMELIA SYNDROME, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, OPSISMODYSPLASIA, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, COFFIN-LOWRY SYNDROME, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SEBASTIAN SYNDROME, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CULLER-JONES SYNDROME, WEAVER SYNDROME, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OCULOECTODERMAL SYNDROME, DIGEORGE SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, 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, ?MECKEL SYNDROME 12, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, 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, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, 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}, OGDEN SYNDROME, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, OPITZ GBBB SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, OPITZ-KAVEGGIA SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, PARKINSON DISEASE 6, EARLY ONSET, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?N SYNDROME, ROBINOW SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, ?PRUNE BELLY SYNDROME, NAIL-PATELLA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LUJAN-FRYNS SYNDROME, LEPRECHAUNISM, SESAME SYNDROME, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, ANDROGEN INSENSITIVITY, MAY-HEGGLIN ANOMALY, PLEUROPULMONARY BLASTOMA, HAJDU-CHENEY 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, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, 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, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, UTERINE LEIOMYOMA, CAUDAL REGRESSION SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 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, ?MICROPHTHALMIA, SYNDROMIC 1, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, NEPHROTIC SYNDROME, TYPE 6, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DYSAUTONOMIA, FAMILIAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SMITH-KINGSMORE SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, MELNICK-FRASER SYNDROME

SLC34A1, SEC23A, F2, PKD1, KCNJ10, PDE4D, KISS1, MAP2K2, NAA10, MID1, ACTB, GNAS, CENPF, CTSA, MUC1, AGT, FLT4, INSR, AGTR1, OTX2, PRKAR1A, PTPRO, UBA1, VANGL1, BTK, GJA1, SOX10, B2M, STK11, PGR, ITGA3, BMP4, CLASP1, CDC6, DNM2, PIK3CA, NOTCH1, EFEMP2, HTR1A, SNAI2, MEFV, ARHGDIA, WNT4, SALL1, CREBBP, GATA3, GNAI2, FLNA, SF3B4, PTEN, SOX9, EIF2B2, ATRX, GRIP1, KRAS, ERBB3, GLI2, SCNN1G, LZTR1, ARHGAP31, SLC9A3R1, AR, FSHR, VWF, NOS3, CCND1, MAPT, CAD, CIITA, GATA2, EDNRA, SCNN1A, TAF6, PAX2, HNRNPK, CBL, IKBKAP, CARD9, NR0B1, RAB3GAP1, ICK, LRP5, AVPR2, WNT3, CD44, VEGFC, SLC22A12, SPRY2, ZBTB16, GSC, RPS6KA3, WAS, ERCC8, DTNBP1, AIRE, TBX1, KAT6B, JAM3, EZH2, USP8, TNFSF11, ITGB3, MYO5B, KIF14, SMARCA2, SMAD4, DVL3, SCNN1B, MECP2, LMX1B, HLA-DRB1, CHD7, CASR, EYA1, PITX2, PQBP1, CEP164, HNF4A, RAPSN, BMP2, HRAS, BRCA1, FN1, SOX2, TXNL4A, PRKDC, WNT5A, SIX1, CFTR, PARK2, PRKCD, MED12, NPHS1, EGFR, NOTCH2, PINK1, CHMP2B, GLI3, AQP2, SNCA, PEX13, EFNB1, ATIC, PEX5, BMPR1B, TRPV4, MUSK, PTPN22, GSN, CHRM3, INPPL1, ITGA6, KIT, RB1, POLA1, AIP, ATP6V1B1, DLG3, SMAD3, SEMA3A, PDSS2, PIK3R1, STUB1, PAX3, ATR, CASP10, BCL10, PIK3R2, PTPN11, ATM, GATA6, TBP, DVL1, MYH9, FGF10, TGFB1, DMPK, TP63, MAP3K1, ATXN1, TCF4, RBMX, MED25, PLG, SOS1, LPL, NIPBL, ACTN4, TINF2, COL4A3, WT1, CDKN1B, GATA4, RET, PEX19, PTH1R, APC, EDNRB, LRP2, SPG7, OCLN, MYH11, NR3C1, HMGA2, EXOC8, ESR1, SKI, YAP1, F10, MTOR, SHH, DICER1

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DESMOID DISEASE, HEREDITARY, CARASIL SYNDROME, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, OGDEN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OCCIPITAL HORN SYNDROME, PEPCK DEFICIENCY, MITOCHONDRIAL, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, PERRAULT SYNDROME 1, VON WILLEBRAND DISEASE, TYPE 1, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, BENIGN FAMILIAL HEMATURIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, POLYCYSTIC LIVER DISEASE, FLOATING-HARBOR SYNDROME, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, CARPENTER SYNDROME, HAY-WELLS SYNDROME, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, EMBERGER SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TYROSINEMIA, TYPE I, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ?JOUBERT SYNDROME 22, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, ?PREMATURE OVARIAN FAILURE 10, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, ?MECKEL SYNDROME 12, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, MEIER-GORLIN SYNDROME 2, BARTTER SYNDROME, TYPE 4B, DIGENIC, ?AL-GAZALI-BAKALINOVA SYNDROME, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, HYPOMAGNESEMIA 6, RENAL, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PLEUROPULMONARY BLASTOMA, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, OVARIAN DYSGENESIS 4, GLANZMANN THROMBASTHENIA, KARTAGENER SYNDROME, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 46,XX SEX REVERSAL, TYPE 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATELOSTEOGENESIS, TYPE I, SENIOR-LOKEN SYNDROME 6, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, MELNICK-NEEDLES SYNDROME, NEPHROLITHIASIS, TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MEIER-GORLIN SYNDROME 1, PERRAULT SYNDROME 4, HYPOPHOSPHATASIA, INFANTILE, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PITT-HOPKINS SYNDROME, NEPHROTIC SYNDROME, TYPE 11, MEIER-GORLIN SYNDROME 5, SESAME SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, ?PERRAULT SYNDROME 2, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, DYSKERATOSIS CONGENITA, X-LINKED, NOONAN SYNDROME 9, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, JOUBERT SYNDROME 5, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, PSEUDOHYPOALDOSTERONISM, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, OPSISMODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, OROFACIODIGITAL SYNDROME V, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JOUBERT SYNDROME 10, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?INFANTILE LIVER FAILURE SYNDROME 1, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, KINDLER SYNDROME, NOONAN SYNDROME 10, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, ESTROGEN RESISTANCE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, EPSTEIN SYNDROME, 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}, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LARSEN SYNDROME, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, HYDATIDIFORM MOLE, RECURRENT, 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LOEYS-DIETZ SYNDROME 4, MICROVILLUS INCLUSION DISEASE, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, CALCIUM OXALATE UROLITHIASIS, DIARRHEA 6, WILSON DISEASE, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, COCKAYNE SYNDROME, TYPE B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, 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, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DENT DISEASE, ?BARDET-BIEDL SYNDROME 19, SENIOR-LOKEN SYNDROME 5, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, BARDET-BIEDL SYNDROME 7, HOLOPROSENCEPHALY-3, MECKEL SYNDROME 10, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, OOCYTE MATURATION DEFECT 2, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, VISCERAL MYOPATHY, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, PREMATURE OVARIAN FAILURE 9, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, BERGER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, PREMATURE OVARIAN FAILURE 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, 5-OXOPROLINASE DEFICIENCY, MEIER-GORLIN SYNDROME 4, ?N SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), NEPHRONOPHTHISIS 15, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, DE SANCTIS-CACCHIONE SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MCKUSICK-KAUFMAN SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, BARTTER SYNDROME, TYPE 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 4, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, APERT SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, BLEEDING DISORDER, PLATELET-TYPE, 20, ?HYPERPROLACTINEMIA, GLUCOCORTICOID RESISTANCE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, BARDET-BIEDL SYNDROME 6, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, STROMME SYNDROME, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, SECKEL SYNDROME 2, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, MUCKLE-WELLS SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, SECKEL SYNDROME 7, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-9, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, SECKEL SYNDROME 5, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, ?MICROPHTHALMIA, SYNDROMIC 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, PERLMAN SYNDROME, PERRAULT SYNDROME 5, GALACTOSEMIA, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, GLYCOGEN STORAGE DISEASE XI, CODAS SYNDROME, SPERMATOGENIC FAILURE 10, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYOGLOBINURIA, RECURRENT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, SMITH-KINGSMORE SYNDROME, SIALURIA, DENT DISEASE 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

CA2, TSC2, EDNRA, SLC34A1, GNAS, CIITA, BMPR1A, ATP6V1B1, RBBP8, LRRK2, UBA1, CDC6, PKD1, B2M, KIF7, FH, TRIM32, TYROBP, OCRL, CREBBP, EFNB1, DYNC2H1, AQP2, ATRX, TRPV4, KL, ERBB3, GK, AR, KRT18, BUB1B, MTOR, TAF6, CBL, KCNJ1, MKKS, HSPD1, ROR2, MT-CYB, ABCD4, TNNT2, PSAP, TP63, DUSP6, PRPS1, NRAS, SMAD4, DVL3, CEP290, CTDP1, PITX2, NARS2, BBS7, RIPK4, INPPL1, AIP, STAMBP, NPHS1, PINK1, EZH2, RECQL4, DNAH1, ACTA2, HSPA9, GNE, PEX5, POLA1, CUL4B, RAB18, HNRNPK, EIF2B5, PIK3R2, SEC23A, PTPN11, LPL, MAPRE2, SPG7, IFT27, DMPK, MT-CO2, SRCAP, LIPE, CXCR4, COL4A3, GATA4, RAB40AL, NLRP5, ERCC6, LRP2, ATXN3, MYH9, SARS2, NR3C1, EXOC8, SOS2, ACE, ACTG2, DICER1, SKI, DNM2, TREX1, WNT5A, NAA10, ACTB, PGK1, ALPL, HARS2, REN, FGA, MYO1E, WT1, NEK8, CDT1, NBN, SOS1, CDC73, BBS2, ARHGDIA, SPAST, MYH3, GNAI2, CLP1, KIF1A, SOX9, LDHA, TGFB2, PARK2, MAP2K2, CLCNKA, NOTCH1, GPI, B9D2, PRKACG, RBM10, VPS33B, FANCA, RB1, FGF23, CLCNKB, BRAF, PIGR, ORC4, BBS12, DPH1, UBE2A, DNAH8, FLT4, SMAD9, NIN, BMP2, HRAS, TXNL4A, FGFR1, DVL1, ATXN1, APOA1, ETFA, POLG, TUBB8, CLIC2, SNCA, NF1, GUCY1A3, KIT, PEX1, DLG3, HTRA1, KRT8, PRKCSH, ITGB4, GATA6, KMT2D, EIF2AK3, TSC1, MAP3K1, MUT, BLM, ACTN4, OFD1, APC, SMAD3, ALDH18A1, NLRP3, C10orf2, ATIC, PDE4D, DDX59, F2, DNAH11, IFIH1, CENPF, PEX6, AP2S1, ATP6V1B2, AGT, LEP, BSND, DNAH5, NLRP7, STK11, FMR1, PDE6D, PPP1R15B, FANCM, PIK3CA, ABCD1, SPAG1, TEK, PRKAG2, SLFN14, GLI2, FANCD2, GRIP1, GBE1, HTR1A, SCNN1G, EGFR, LZTR1, CLCN5, IGF2, NOS3, DCLRE1C, CCND1, MAPT, CAD, GATA2, KIF5A, SCNN1A, GALT, CEP152, ICK, ANLN, CD44, SPRY2, GUCY2C, GSC, RPS6KA3, WAS, DIS3L2, ATL1, ADCY10, KIF14, AMHR2, OAS1, PAX2, LMX1B, HLA-DRB1, YAP1, VHL, BCS1L, RAPSN, ARL6, CEP164, BRCA1, FN1, CNNM2, POLR3A, SMARCAL1, ATP5A1, DNA2, POLD1, KISS1R, RAD51C, PTEN, FGFR3, SLC9A3R1, GSN, LARS2, FAH, SSR4, HSD17B4, PRKCD, STUB1, EIF2B1, BCL10, KCNJ10, MED25, PANK2, TBP, ATP7A, TGFB1, DKC1, NEK1, TCF4, PCNT, CBX2, STRADA, SEPT12, RIT1, F10, COQ6, OCLN, VPS45, PRLR, TINF2, FLNB, BRCA2, TRNT1, OPLAH, APRT, CNBP, PIGT, ITGB3, STK10, PPARG, AGTR1, PRKAR1A, EIF2B2, BTK, CLASP1, MARS2, BMP4, UMPS, WNT7A, CHD7, KRAS, LMNB1, PGR, COPA, LONP1, IKBKAP, IFNG, NUP107, ZBTB16, SF3B4, FERMT1, IQCB1, SEC23B, PCK1, MCM8, LARS, TTR, GNA11, GJA1, SMARCA2, INPP5E, SNRPB, INF2, VWF, MECP2, CASR, MYO5B, MCM9, BBS10, PRKDC, CFTR, SEC63, ABCC6, CDKN1C, ATP7B, MUSK, ITPR3, CHRM3, DSTYK, FLNA, DNAJC13, SEMA3A, RAB23, ATR, ATXN2, ATM, HFM1, ESR1, ORC1, INSR, FGFR2, GLUD2, CDKN1B, FANCC, RET, PEX19, DGKE, HACE1, GNRH1, NHP2, MYH11, BMPR1B, PCK2, SHH, PC, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, TUBEROUS SCLEROSIS 2, LOEYS-DIETZ SYNDROME 3, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, LIPOID ADRENAL HYPERPLASIA, GLUCOCORTICOID RESISTANCE, PARKINSON DISEASE 1, HYPOSPADIAS 1, X-LINKED, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, VISCERAL MYOPATHY, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, NEUROFIBROMATOSIS-NOONAN SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CROUZON SYNDROME, APERT SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESTROGEN RESISTANCE, LADD SYNDROME, 46XY SEX REVERSAL 3, PALLISTER-HALL SYNDROME, AMYLOIDOSIS, FINNISH TYPE, HAMAMY SYNDROME, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, SPERMATOGENIC FAILURE 8, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, TRIGONOCEPHALY 1, APPARENT MINERALOCORTICOID EXCESS, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

STAR, PRKDC, ACE, ACTB, CYP21A2, IRX5, APOA1, APOE, APRT, IFNG, CREBBP, AR, NR5A1, AKR1C2, HSPG2, AGT, PPARG, KL, MT-CO2, LEP, PGR, PTCH1, CDKN1B, FGA, FGFR2, FGFR1, HSD11B2, SCP2, EGFR, GLI3, SNCA, LRP2, HNF1A, NR0B1, NF1, SMAD3, NR3C1, GSN, ESR1, GNAI2, ACTG2, NR3C2

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, NEPHROTIC SYNDROME, TYPE 10, EMBERGER SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, WEAVER SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, HOLOPROSENCEPHALY-3, HAJDU-CHENEY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, WHIM SYNDROME, CROUZON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, SMED STRUDWICK TYPE, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PARKINSON DISEASE 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MELNICK-NEEDLES SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, BENIGN FAMILIAL HEMATURIA, ALAGILLE SYNDROME, RENAL ADYSPLASIA, LOEYS-DIETZ SYNDROME 3, GLANZMANN THROMBASTHENIA, CUTIS LAXA, AD, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, EHLERS-DANLOS SYNDROME, TYPE IV, VESICOURETERAL REFLUX 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HYPERPARATHYROIDISM, NEONATAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, CALCIUM OXALATE UROLITHIASIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AXENFELD-RIEGER SYNDROME, TYPE 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TUBEROUS SCLEROSIS 2, {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, RABSON-MENDENHALL SYNDROME, AMYLOIDOSIS, FINNISH TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, LEOPARD SYNDROME 1, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BENT BONE DYSPLASIA SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LADD SYNDROME, RENAL TUBULAR DYSGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRONTOMETAPHYSEAL DYSPLASIA, PIERSON SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

FGFR2, WNT7A, ADAMTS13, CD44, ITGB3, SHH, FBLN5, PRKCD, DSP, ELN, VWF, DLL4, NOTCH1, C3AR1, FLT4, TGFB1, FLNA, COL3A1, CXCR4, HSPG2, CCND1, F2, CASR, LEP, AGT, ITGB4, GATA2, INSR, NOS3, ITPR3, SCARB2, NOTCH2, PLG, EMP2, FN1, ITGA8, FGA, LPL, B2M, ACTN4, ITGA6, COL4A3, CBL, IFNG, ITGA3, LRP2, LAMB2, FGF23, EZH2, RET, C3, JAM3, SNCA, LTBP4, COL1A2, EGFR, JAG1, TNXB, SMAD3, NR3C1, GSN, CD46, LYZ, COL2A1, PTPN11, CD81, PITX2, PIK3R1

?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, FRASER SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, DE SANCTIS-CACCHIONE SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, HOLOPROSENCEPHALY-3, PEUTZ-JEGHERS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, ID, BANNAYAN-RILEY-RUVALCABA SYNDROME, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3

TTR, GRIP1, ERBB3, MAP2K2, IGF2, TGFB1, ALS2, CTCF, GATA6, AGT, BMP2, PIK3CA, BMP4, CBL, STK11, CCND1, GATA4, ERCC6, STRADA, VEGFC, EGFR, SPRY2, PTEN, SMAD3, CREBBP, PRKAG2, TINF2, SHH

CLOVE SYNDROME, SOMATIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HARTSFIELD SYNDROME, 3-M SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, OSTEOGLOPHONIC DYSPLASIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AMYLOIDOSIS, FINNISH TYPE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BENT BONE DYSPLASIA SYNDROME, 46XY SEX REVERSAL 6, TRIGONOCEPHALY 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, OCULOECTODERMAL SYNDROME, PIEBALDISM, RUBINSTEIN-TAYBI SYNDROME, NEPHROTIC SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, LYMPHEDEMA, HEREDITARY, IA, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, GLANZMANN THROMBASTHENIA, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, LOEYS-DIETZ SYNDROME 3, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEPHROTIC SYNDROME, TYPE 8, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, ?PROGESTERONE RESISTANCE, APERT SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, WAARDENBURG SYNDROME, TYPE 4C, LARON DWARFISM, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LEOPARD SYNDROME 1, DYSAUTONOMIA, FAMILIAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HAY-WELLS SYNDROME, OPSISMODYSPLASIA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA