GENITOURINARY

BARAITSER-WINTER SYNDROME 1, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DIABETES INSIPIDUS, NEPHROGENIC, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, LATHOSTEROLOSIS, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CHILD SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, NEUROFIBROMATOSIS-NOONAN SYNDROME, MEIER-GORLIN SYNDROME 4, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, BARDET-BIEDL SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, ?PROGESTERONE RESISTANCE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, FRAGILE X TREMOR/ATAXIA SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, RUBINSTEIN-TAYBI SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ALAGILLE SYNDROME 2, INSOMNIA, FATAL FAMILIAL, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, CORNELIA DE LANGE SYNDROME 1, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ALPORT SYNDROME, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DESMOSTEROLOSIS, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, C3 DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, RITSCHER-SCHINZEL SYNDROME 1, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BENIGN FAMILIAL HEMATURIA, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, RENAL TUBULAR DYSGENESIS, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, FRAGILE X SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, DONNAI-BARROW SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NEPHRONOPHTHISIS 1, JUVENILE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WOLFRAM SYNDROME 2, EVEN-PLUS SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CEREBROCOSTOMANDIBULAR SYNDROME, NOONAN SYNDROME 10, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, SPERMATOGENIC FAILURE 8, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, NEPHROTIC SYNDROME, TYPE 2, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 8B, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, WISKOTT-ALDRICH SYNDROME, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, ?CHARGE SYNDROME, CHARGE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, JOUBERT SYNDROME 4, PREMATURE OVARIAN FAILURE 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, CRANIOLENTICULOSUTURAL DYSPLASIA, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, FRONTOMETAPHYSEAL DYSPLASIA, APPARENT MINERALOCORTICOID EXCESS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOTONIC DYSTROPHY 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, VON WILLEBRAND DISEASE, TYPE 1, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, LEPRECHAUNISM, SESAME SYNDROME, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, WOLCOTT-RALLISON SYNDROME, SPERMATOGENIC FAILURE 7, DIABETES INSIPIDUS, NEPHROGENIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, FACTOR VII DEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SPINOCEREBELLAR ATAXIA 17, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ABCD SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, WOLFRAM SYNDROME, MYOTONIC DYSTROPHY 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LIPOID ADRENAL HYPERPLASIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, RENAL TUBULAR ACIDOSIS, DISTAL, AR, SPINOCEREBELLAR ATAXIA 42, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SEA-BLUE HISTIOCYTE DISEASE, CODAS SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, ESTROGEN RESISTANCE

PEX5, CA2, APOE, SEC23A, PHEX, KMT2A, IGSF1, TSC2, APRT, MAP2K2, CNBP, MAP3K1, ACTB, SEMA3E, SC5D, CIITA, CTSA, GBA2, F2, AGT, PLOD2, PPARG, LRRK2, CDKN1B, PRKAR1A, SLC34A1, NSDHL, GJA1, G6PC3, FGA, B2M, KISS1R, PLG, NPHP1, ALG1, ARSE, TRIM32, CDT1, RTN2, BMP4, POR, JAG1, ARHGDIA, SMAD4, MYH3, NR5A1, GNAI2, KIF1A, NF1, FIG4, SMARCA2, F7, GRIP1, ITPR3, PLEC, APOA1, CBL, ELN, ATXN1, EGFR, LZTR1, WFS1, TRPV4, AGTR1, PGK1, NOS3, LMNB1, HS6ST1, MAPT, CAD, MTOR, LDHA, KIF5A, PRKACG, SCNN1A, LEP, BMPR1A, PGR, COPA, MSMO1, NR0B1, EHHADH, DSP, LONP1, MAFB, CCND1, IFNG, ITGA6, PTH1R, ELOVL4, AVPR2, ATL1, DSE, FGFR3, SLC4A1, HSPD1, ALPL, ARL6, STS, REEP1, FGF23, CREBBP, PRKCSH, CYP24A1, TP63, VPS35, BRAF, IFNGR1, USP8, SPG7, TTR, CD44, ITGB3, CACNA1G, ITGA8, CATSPER1, TGFB2, SERPINH1, OAS1, HNF4A, INF2, VWF, C3, HLA-DRB1, CRTAP, LRP5, CASR, VHL, COL4A1, KL, BMP2, FOXP3, EDNRB, FLNA, FN1, KRAS, PEX16, WNT5A, HSD11B2, CFTR, COL4A3, WAS, NPHS1, LRP2, ATP5A1, PEX19, NOTCH2, LIPE, HNRNPK, POMT1, COL1A2, AQP2, SNCA, NPHS2, PIGR, SLC37A4, HSPA9, EFNB1, PTEN, BGLAP, SLC9A3R1, GNRH1, CHRM3, BTK, LYZ, SSR4, ATXN2, DLG3, DNAJC13, PRKCD, STUB1, BMPR1B, PIGA, DHCR7, KCNJ10, TGFB1, PRNP, PTPN11, LPL, GATA4, TBP, ATP7A, IER3IP1, ESR1, MT-CO2, MUT, INSR, EBP, NOTCH1, KIAA0196, SOS1, FMR1, ATM, TNFSF11, SEC63, STAR, FANCC, PARK2, GNAS, SNRPB, TRH, PIEZO1, RET, AGA, HRAS, HACE1, CISD2, ATXN3, EIF2AK3, DHCR24, HSD3B2, AGPAT2, SMAD3, IRF6, HSPG2, EXT2, PIK3R1, YAP1, CYP17A1, HFE, REEP2, DMPK, SHH

BASAL CELL NEVUS SYNDROME, HARTSFIELD SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, FRASER SYNDROME, OCULODENTODIGITAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, PLEUROPULMONARY BLASTOMA, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, WHIM SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, NEPHROTIC SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, NEPHROTIC SYNDROME, TYPE 8, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HERMANSKY-PUDLAK SYNDROME 1, MENTAL RETARDATION, X-LINKED 90, WISKOTT-ALDRICH SYNDROME, WAARDENBURG SYNDROME, TYPE 1, PREMATURE OVARIAN FAILURE 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, TRIGONOCEPHALY 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, NEPHROTIC SYNDROME, TYPE 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, TUBEROUS SCLEROSIS-1, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, RENAL TUBULAR DYSGENESIS, FRAGILE X SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

PTCH1, TSC2, ADCY10, ITGA8, LMNA, PAX3, MAP3K1, DLG3, ALS2, NOS3, CXCR4, FLNA, MAPT, AGT, DTNBP1, SNCA, FGFR1, WAS, USP9X, GRIP1, OTX2, MECP2, CDKN1B, CCND1, GJA1, SNCAIP, ATXN1, NPHS1, FMR1, PTPRO, ITGA3, DVL1, APC, HRAS, EGFR, SPRY2, ARHGDIA, NF1, TRPV4, EXOC8, TSC1, ITGB3, KIT, DICER1, PIK3R1

BASAL CELL NEVUS SYNDROME, HARTSFIELD SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, NEPHROTIC SYNDROME, TYPE 1, OCULODENTODIGITAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, PLEUROPULMONARY BLASTOMA, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, WHIM SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, NEPHROTIC SYNDROME, TYPE 8, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HERMANSKY-PUDLAK SYNDROME 1, MENTAL RETARDATION, X-LINKED 90, WISKOTT-ALDRICH SYNDROME, FRASER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, TRIGONOCEPHALY 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, NEPHROTIC SYNDROME, TYPE 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, TUBEROUS SCLEROSIS-1, RENAL TUBULAR DYSGENESIS, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

PTCH1, TSC2, ADCY10, ITGA8, LMNA, PAX3, MAP3K1, DLG3, ALS2, NOS3, CXCR4, FLNA, MAPT, AGT, DTNBP1, SNCA, FGFR1, WAS, USP9X, GRIP1, OTX2, MECP2, GJA1, CCND1, SNCAIP, ATXN1, NPHS1, CDKN1B, PTPRO, ITGA3, DVL1, APC, HRAS, EGFR, SPRY2, ARHGDIA, NF1, TRPV4, EXOC8, TSC1, ITGB3, KIT, DICER1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, BASAL CELL NEVUS SYNDROME, PREMATURE OVARIAN FAILURE 7, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, BARAITSER-WINTER SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, EMBERGER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MICROPHTHALMIA, SYNDROMIC 6, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, WAARDENBURG SYNDROME, TYPE 1, POPLITEAL PTERYGIUM SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPEROXALURIA, PRIMARY, TYPE II, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARASIL SYNDROME, FECHTNER SYNDROME, DONNAI-BARROW SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, SICKLE CELL ANEMIA, ABCD SYNDROME, EPSTEIN SYNDROME, PERRAULT SYNDROME 4, HYPOPHOSPHATASIA, INFANTILE, BENIGN FAMILIAL HEMATURIA, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, COENZYME Q10 DEFICIENCY, PRIMARY, 3, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ESTROGEN RESISTANCE, NEPHROTIC SYNDROME, TYPE 11, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ALAGILLE SYNDROME 2, DESMOID DISEASE, HEREDITARY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CORNELIA DE LANGE SYNDROME 1, SPERMATOGENIC FAILURE, X-LINKED, 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HMG-COA LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ?PERRAULT SYNDROME 2, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PEPCK DEFICIENCY, MITOCHONDRIAL, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, HOLOPROSENCEPHALY-9, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SECKEL SYNDROME 1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PERRAULT SYNDROME 3, LIPOID ADRENAL HYPERPLASIA, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CRANIOFRONTONASAL DYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DEMENTIA, FAMILIAL, NONSPECIFIC, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, RENAL TUBULAR DYSGENESIS, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, DENYS-DRASH SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, NEPHROTIC SYNDROME, TYPE 8, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, SPINOCEREBELLAR ATAXIA 17, {BUDD-CHIARI SYNDROME}, AMYLOIDOSIS, FINNISH TYPE, PRADER-WILLI SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ALPORT SYNDROME, HAY-WELLS SYNDROME, LADD SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, SERKAL SYNDROME, SEBASTIAN SYNDROME, PAPILLORENAL SYNDROME, NEPHRONOPHTHISIS 1, JUVENILE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, PERRAULT SYNDROME 1, CORTISONE REDUCTASE DEFICIENCY 1, OROTIC ACIDURIA, CULLER-JONES SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, BURN-MCKEOWN SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OCULOECTODERMAL SYNDROME, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CEREBROCOSTOMANDIBULAR SYNDROME, HYPOSPADIAS 1, X-LINKED, NOONAN SYNDROME 10, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, VISCERAL MYOPATHY, ALAGILLE SYNDROME, SPERMATOGENIC FAILURE 8, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, CLOVE SYNDROME, SOMATIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), RESTRICTIVE DERMOPATHY, LETHAL, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?OSTEOGENESIS IMPERFECTA, TYPE X, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, CALCIUM OXALATE UROLITHIASIS, PERRAULT SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE VII, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MYOTUBULAR MYOPATHY, X-LINKED, JOUBERT SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), METACHROMATIC LEUKODYSTROPHY, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, MALOUF SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, PARKINSON DISEASE 6, EARLY ONSET, EHLERS-DANLOS SYNDROME, TYPE IV, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ROBINOW SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?PRUNE BELLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, OMODYSPLASIA 1, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LEPRECHAUNISM, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, HAJDU-CHENEY SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NEPHROTIC SYNDROME, TYPE 4, HYPERPROLINEMIA, TYPE I, EHLERS-DANLOS SYNDROME, TYPE VI, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MEIER-GORLIN SYNDROME 1, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, AU-KLINE SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ANDROGEN INSENSITIVITY, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?HYPERPROLACTINEMIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, C1Q DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BANNAYAN-RILEY-RUVALCABA SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOGLOBINURIA, RECURRENT, SEA-BLUE HISTIOCYTE DISEASE, CODAS SYNDROME, LEOPARD SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

APOE, MARS2, PARK7, HBB, WNT5A, SMAD3, KISS1, GP1BA, ORC1, ACTB, PGK1, CIITA, GLI3, COL1A2, MUC1, F2, ATP6V1B2, AGT, PPARG, TAF6, LRRK2, EDNRB, PCK2, REN, IDUA, FGA, B2M, ARSE, COX6B1, WT1, PEX13, COL4A5, H6PD, CXCR4, SUFU, DNM2, PIK3CA, SOS1, BMP4, CDC73, JAG1, ARHGDIA, WNT4, CREBBP, AUH, UMPS, ATIC, GNAI2, TRMT5, ETFDH, SF3B4, PTEN, ANXA5, HTRA1, PTCH1, ACE, HSD17B4, ACP2, TGFB2, SCP2, KRAS, ERBB3, CBL, VWF, LZTR1, HEXB, AR, GPC3, IGF2, AGTR1, GNAS, NOS3, HS6ST1, GLI2, CAD, GATA2, NEU1, COQ6, SCARB2, LMNA, PRODH, HNRNPK, MSMO1, STAR, PLOD1, ESR1, DSP, LONP1, COL2A1, CCND1, IFNG, GPC6, SSR4, WNT3, SOX9, VEGFC, HSPD1, CD81, NUP107, MT-CYB, ALPL, EZH2, ACTA2, STS, NR3C2, GSC, GP9, PRKCSH, PANK2, TP63, VPS35, HAO1, F7, COL3A1, LARS, CD44, GLB1, VHL, GJA1, WNT7A, PRSS1, ALDH18A1, SMAD4, COL4A1, DVL3, CLASP1, FLT4, SMAD9, PEX19, PAX2, HLA-DRB1, CRTAP, FLNA, CASR, LEP, PITX2, NARS2, COL4A4, RAPSN, BMP2, DBH, ROR2, HMGCL, MTOR, NDN, C1QA, SOX2, TXNL4A, FKBP14, CFTR, MUT, APOA1, ETFA, SEC63, EGFR, ATP5A1, HARS2, NOTCH2, ZNF423, CHMP2B, PRKCD, NUP93, POLD1, FN1, SNCA, RAD51C, HSPA9, ARSA, EFNB1, ATR, MUSK, ITPR3, GSN, ADA, CHRM3, INPPL1, ITGA6, F5, HRAS, SERPINC1, ATXN2, LRP5, UQCC2, FBXL4, PSAP, PDSS2, BAAT, PINK1, PAX3, IRF6, GRHPR, NR5A1, TGFB1, NPHP1, PTPN11, TEX11, LPL, LARS2, GATA4, ITGA2B, TBP, DVL1, MYH9, FGF10, ETFB, EXT2, MT-CO2, INSR, NOTCH1, PLG, SERPINH1, LIPE, PEX12, ACTN4, TINF2, COL4A3, AGXT, GBA, CDKN1B, GLA, GATA6, FANCC, SNRPN, PLOD2, SNRPB, TRH, FH, MECP2, CTCF, APC, HFE, CLPP, LRP2, EIF2AK3, SARS2, HSD3B2, CTSA, MYH11, NR3C1, HSPG2, PRLR, ITGB3, PIK3R1, C10orf2, BMPR1A, F10, PC, SOX10, PEX5, SHH

BARAITSER-WINTER SYNDROME 1, PREMATURE OVARIAN FAILURE 7, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DIABETES INSIPIDUS, NEPHROGENIC, OTOPALATODIGITAL SYNDROME, TYPE II, LATHOSTEROLOSIS, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIARRHEA 6, SHORT SYNDROME, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, WOLFRAM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, CHIME SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CHILD SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WOLFRAM SYNDROME 2, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, HEMOCHROMATOSIS, TYPE 2B, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, BOUCHER-NEUHAUSER SYNDROME, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, ?PROGESTERONE RESISTANCE, AGAMMAGLOBULINEMIA, X-LINKED 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, PETERS-PLUS SYNDROME, NEPHROTIC SYNDROME, TYPE 11, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, ?LAURENCE-MOON SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HAJDU-CHENEY SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, JOUBERT SYNDROME 6, METHEMOGLOBINEMIA, TYPE IV, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, LIPOID ADRENAL HYPERPLASIA, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PEUTZ-JEGHERS SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SPONDYLOOCULAR SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, BRUCK SYNDROME 2, RENAL TUBULAR DYSGENESIS, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, OVARIAN HYPERSTIMULATION SYNDROME, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, SPINOCEREBELLAR ATAXIA 17, NEPHRONOPHTHISIS 11, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, PRADER-WILLI SYNDROME, OLIVER-MCFARLANE SYNDROME, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, CYSTINOSIS, OCULAR NONNEPHROPATHIC, TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CORTISONE REDUCTASE DEFICIENCY 2, WAARDENBURG SYNDROME, TYPE 4C, DONNAI-BARROW SYNDROME, ALAGILLE SYNDROME 2, NEPHRONOPHTHISIS 1, JUVENILE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BJORNSTAD SYNDROME, COACH SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, WEAVER SYNDROME, MYOTONIC DYSTROPHY 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, SENIOR-LOKEN SYNDROME-1, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, NEPHROTIC SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, WARBURG MICRO SYNDROME 4, {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, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FRAGILE X TREMOR/ATAXIA SYNDROME, ?N-ACETYLASPARTATE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8B, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLYCOGEN STORAGE DISEASE IC, CALCIUM OXALATE UROLITHIASIS, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, JOUBERT SYNDROME 4, PREMATURE OVARIAN FAILURE 1, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, MALOUF SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, COWDEN SYNDROME 7, ROBINOW SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, DESMOSTEROLOSIS, LIPOPROTEIN LIPASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, VON WILLEBRAND DISEASE, TYPE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LATERAL MENINGOCELE SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, ANDROGEN INSENSITIVITY, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, 3MC SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ESTROGEN RESISTANCE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MECKEL SYNDROME 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SENIOR-LOKEN SYNDROME 9, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HERMANSKY-PUDLAK SYNDROME 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SPINOCEREBELLAR ATAXIA 42, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, SMITH-KINGSMORE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPERMATOGENIC FAILURE 8, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AU-KLINE SYNDROME

APOE, PARK7, HBB, UPK3A, TSC2, APRT, POMT1, ACTB, PGK1, CTSA, GBA2, F2, B3GLCT, AGT, PPARG, PTDSS1, TREX1, PRKAR1A, NPHS1, NSDHL, BTK, GJA1, G6PC3, B2M, CYB5A, STK11, ALG1, PIGO, SEC23A, G6PC, NOTCH1, NOTCH3, ARSE, POR, ARHGDIA, SPAST, SMAD4, WFS1, HSD11B1, GNAI2, CD81, NR3C2, ARNT2, NUP107, LDHA, PIGL, KRAS, ERBB3, FSHR, FOXL2, EGFR, LZTR1, CYP7B1, AR, AGTR1, PIGT, NOS3, LMNB1, LPIN1, MTOR, EPHX1, COQ6, LEP, LMNA, BMPR1A, PGR, COPA, MSMO1, NR0B1, PLOD1, CBL, CCND1, IFNG, AHSG, SC5D, HSD17B3, AVPR2, HNF4A, DVL1, CD44, CLP1, FKBP14, PIGY, ALPL, ABCD4, CASR, GUCY2C, STS, REEP1, CYP21A2, PNPLA6, SEC23B, ATL1, DPAGT1, ITGB3, CACNA1G, TRAF3IP1, XYLT2, SLC9A6, DVL3, VWF, TMCO1, CTNS, HLA-DRB1, FA2H, TBC1D20, NAT8L, ANKLE2, BCS1L, FOXP3, HSD3B2, NDN, NR3C1, FN1, EXT2, CFTR, ATXN1, WAS, ETFA, SEC63, TMEM67, ATP5A1, LRP2, NOTCH2, HNRNPK, EZH2, POMT2, CDC6, SLC37A4, ACTA2, PIGN, PTEN, ITPR3, HAMP, BCL10, SOX10, HRAS, RB1, SSR4, EIF2B1, FLNA, SLC40A1, MASP1, STUB1, BMPR1B, PIGA, DHCR7, NR5A1, XYLT1, NPHP1, PTPN11, LPL, GATA4, TBP, DTNBP1, EIF2AK3, TGFB1, IER3IP1, SPRY4, TP63, MT-CO2, INSR, EBP, SRD5A2, CPT1C, PLG, FMR1, TINF2, PIK3R1, STAR, ZMPSTE24, PLOD2, TRH, PIEZO1, RET, PEX19, F10, PEX16, CISD2, DHCR24, GNRH1, AGPAT2, SMAD3, IRF6, HSPG2, ESR1, ATIC, PDE4D, CYP17A1, HFE, REEP2, DMPK, SHH

BARAITSER-WINTER SYNDROME 1, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SIALIC ACID STORAGE DISORDER, INFANTILE, LEPRECHAUNISM, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DONNAI-BARROW SYNDROME, HAY-WELLS SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, NEPHROLITHIASIS, TYPE I, HYPOPHOSPHATEMIC RICKETS, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LOEYS-DIETZ SYNDROME 3, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, SMITH-KINGSMORE SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, DENT DISEASE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, WHIM SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, CALCIUM OXALATE UROLITHIASIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, AGAMMAGLOBULINEMIA, X-LINKED 1, 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}, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?BARDET-BIEDL SYNDROME 11, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

CD44, APOE, DNM2, ALPL, DNAJC13, ZFYVE26, PSAP, APOA1, B2M, HNF1B, SMAD4, ACP2, SLC17A5, GNAS, CTSA, CXCR4, HLA-DRB1, LMNB1, ATP6V1B2, AGT, GATA2, GNA11, SCARB2, INSR, FOXP3, VPS35, PLG, FN1, BTK, FGA, ECE1, PACS1, CCND1, GBA, ERBB3, IFNG, NEU1, HLA-DQB1, VPS33B, LRP2, CBL, TRIM32, CLCN5, SPG11, CTNS, ATP6V0A2, HRAS, EGFR, CDC73, WDR11, AP5Z1, ACTB, SMAD3, SLC9A3R1, HSPG2, TP63, DYNC2H1, MTOR, PIK3R1

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GLUCOCORTICOID RESISTANCE, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, FRASER SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, 46,XX SEX REVERSAL, TYPE 2, OTOPALATODIGITAL SYNDROME, TYPE II, SECKEL SYNDROME 2, ALSTROM SYNDROME, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 46XY SEX REVERSAL 9, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SENIOR-LOKEN SYNDROME 4, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, 3-M SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, JOUBERT SYNDROME 4, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, FANCONI RENOTUBULAR SYNDROME 2, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, WARBURG MICRO SYNDROME 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HERMANSKY-PUDLAK SYNDROME 1, ABCD SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, AGAMMAGLOBULINEMIA, X-LINKED 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, STROMME SYNDROME, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, OGDEN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, BARDET-BIEDL SYNDROME 16, DESMOID DISEASE, HEREDITARY, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, SHPRINTZEN-GOLDBERG SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, BOHRING-OPITZ SYNDROME, CALCIUM OXALATE UROLITHIASIS, CENANI-LENZ SYNDACTYLY SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BARTTER SYNDROME, TYPE 2, NEPHRONOPHTHISIS 4, BECKWITH-WIEDEMANN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, FANCONI ANEMIA, COMPLEMENTATION GROUP P, OCULODENTODIGITAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, C3 DEFICIENCY, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, JOUBERT SYNDROME 6, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, LADD SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, SHORT SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, JOUBERT SYNDROME 5, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NEPHROTIC SYNDROME, TYPE 8, MARTSOLF SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SPINOCEREBELLAR ATAXIA 17, DENYS-DRASH SYNDROME, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, MYOTONIC DYSTROPHY 1, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 3, BARAITSER-WINTER SYNDROME 1, HAY-WELLS SYNDROME, MECKEL SYNDROME 4, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LYMPHEDEMA, HEREDITARY, IA, NEPHRONOPHTHISIS 1, JUVENILE, EMBERGER SYNDROME, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, COACH SYNDROME, CULLER-JONES SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-9, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, SENIOR-LOKEN SYNDROME-1, WHIM 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, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMAGE SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, NEPHROTIC SYNDROME, TYPE 2, FRAGILE X TREMOR/ATAXIA SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, APERT SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MECKEL SYNDROME 3, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HYPERPARATHYROIDISM, NEONATAL, MYOTONIC DYSTROPHY 2, NICOLAIDES-BARAITSER SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPINOCEREBELLAR ATAXIA 42, PREMATURE OVARIAN FAILURE 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, JOUBERT SYNDROME 7, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, BARDET-BIEDL SYNDROME 4, MALOUF SYNDROME, TUBEROUS SCLEROSIS-1, JOUBERT SYNDROME-3, FRAGILE X SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, KINDLER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MECKEL SYNDROME 12, ?PRUNE BELLY SYNDROME, GLYCOGEN STORAGE DISEASE XI, NEPHRONOPHTHISIS 11, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CLOVE SYNDROME, SOMATIC, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLOPROSENCEPHALY-3, SESAME SYNDROME, 46XY SEX REVERSAL 6, MECKEL SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, WOLCOTT-RALLISON SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, FECHTNER SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, LEPRECHAUNISM, MECKEL SYNDROME 10, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SIALIC ACID STORAGE DISORDER, INFANTILE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, GITELMAN SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NEPHROTIC SYNDROME, TYPE 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 3MC SYNDROME 1, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, CUTIS LAXA, AD, CROUZON SYNDROME, SPERMATOGENIC FAILURE 7, DYSAUTONOMIA, FAMILIAL, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, MENTAL RETARDATION, X-LINKED 90, ESCOBAR SYNDROME, SENIOR-LOKEN SYNDROME 9, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ANDROGEN INSENSITIVITY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BANNAYAN-RILEY-RUVALCABA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, SEA-BLUE HISTIOCYTE DISEASE, NEPHROTIC SYNDROME, TYPE 6, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SECKEL SYNDROME 1, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

CA2, SLC34A1, C3AR1, DNM2, GNAI2, FGFR1, PKD1, KCNJ10, APOE, MAP2K2, CNBP, CHRNG, NPHS2, ACTB, PIGT, CENPF, GLI3, ATP6V1B1, SEMA3A, F2, AGT, PPARG, TAF6, AGTR1, NOTCH3, BBS4, KDM1A, GNRH1, NPHP4, EIF2B2, ITGA8, BTK, FGA, B2M, SLC17A5, PGR, MYO1E, PTPRO, ITGA3, PDE6D, IKBKAP, PPP1R15B, TRIM32, B9D2, PIK3CA, ACTN4, SERPINH1, NOTCH1, BMP4, CDC73, CD81, JAG1, TEK, SMAD4, RAB3GAP2, CREBBP, ARHGDIA, CLDN19, HTR1A, SPECC1L, KIF1A, MUSK, ANXA5, PTCH1, ACE, NPHS1, LDHA, DOK7, XRCC4, PLEC, ERBB3, CBL, ELN, EGFR, SLC9A3R1, AR, GPC3, ALMS1, IGF2, NOTCH2, NOS3, LMNB1, CCND1, GLI2, CIITA, MTOR, EDNRA, CHRM3, SCNN1A, HS6ST1, SCARB2, LMNA, OPHN1, SDCCAG8, CATSPER1, NLRP3, DSP, KRT18, LYZ, KCNJ1, IFNG, ANLN, TALDO1, GLIS3, CD44, DSE, FGFR3, C3, HSPD1, CUL7, GRIP1, SPRY2, ACTA2, SF3B4, CLDN16, RPS6KA3, RBBP8, TP63, KMT2A, DTNBP1, AHI1, BRAF, KAT6B, JAM3, ARHGAP31, TTR, RET, ITGB3, CACNA1G, SHH, TRAF3IP1, SOX9, YAP1, MYH3, DVL3, FLT4, CEP290, INSR, RAB3GAP1, KRAS, ZFPM2, CASR, LEP, ITPR3, GJA1, VHL, USP9X, RAPSN, BMP2, RPGRIP1L, HRAS, FLNA, FN1, KRT8, INPPL1, PRKDC, DVL1, PARK2, PDSS2, PRKCD, LRP2, ATP5A1, SMARCA2, HNRNPK, EIF2AK3, FERMT1, NUP93, AQP2, SNCA, CDKN1C, HNF1A, ZBTB16, HSPA9, EFNB1, ATR, PTEN, TRPV4, KCNH1, GSN, TSC1, THBD, NAA10, ITGA6, KIT, AIRE, LRP4, EIF2B1, DLG3, MYH11, POLR3A, MASP1, PIK3R1, STUB1, PAX3, DLL4, BMPR1B, ASXL1, WAS, PIK3R2, TGFB1, NPHP1, PTPN11, CXCR4, GATA4, ITGA2B, TBP, CFTR, KIF14, FGF10, ITGB4, DMPK, SPRY4, ESR1, MAP3K1, ATXN1, CD19, CPT1C, PLG, SOS1, FMR1, BLM, FGFR2, PACS1, TINF2, TNFSF11, WT1, DMXL2, NEU1, PODXL, KIF5A, TRH, CLASP1, SLX4, APC, PDE4D, EDNRB, HACE1, TMEM67, ATXN3, MYH9, ADA, OCLN, SMAD3, NR3C1, HSPG2, CD46, ATIC, SLC12A3, FLNB, GATA2, SKI

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SECKEL SYNDROME 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, STROMME SYNDROME, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, HARTSFIELD SYNDROME, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, NEPHROTIC SYNDROME, TYPE 8, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, AMYLOIDOSIS, FINNISH TYPE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, LYMPHEDEMA, HEREDITARY, IA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, OCULOECTODERMAL SYNDROME, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, KINDLER SYNDROME, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, HYPOSPADIAS 1, X-LINKED, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, RESTRICTIVE DERMOPATHY, LETHAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CALCIUM OXALATE UROLITHIASIS, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORNELIA DE LANGE SYNDROME 1, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ANDROGEN INSENSITIVITY, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, RENAL ADYSPLASIA, ESTROGEN RESISTANCE, CROUZON SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, WISKOTT-ALDRICH SYNDROME, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SEA-BLUE HISTIOCYTE DISEASE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME

APOE, C3AR1, F2, FGFR1, KMT2A, LMNA, CNBP, ACTB, PIGT, CENPF, ATP6V1B2, AGT, PPARG, SCARB2, KDM1A, ITGA2B, ITGA8, FGA, B2M, ITGA3, DNM2, SERPINH1, BMP4, TEK, DLL4, MYH3, ARHGDIA, CD81, SF3B4, ANXA5, ACE, TRPV4, KRAS, MAP2K2, AR, IGF2, NOS3, EDNRA, CHRM3, TAF6, CBL, KRT18, CCND1, IFNG, CD44, KIF1A, RBBP8, WAS, BRAF, ARHGAP31, TTR, GPC3, ITGB3, GJA1, SMAD4, FLT4, YAP1, LEP, VHL, BMP2, FLNA, FN1, PLEC, INPPL1, PRKDC, ATXN1, EGFR, ATP5A1, HNRNPK, FERMT1, HSPA9, ATIC, PTEN, FGFR3, GSN, THBD, ITGA6, KIT, TNFSF11, PRKCD, STUB1, CD46, EIF2B1, KCNJ10, TGFB1, PTPN11, EIF2AK3, FGF10, ITGB4, SPRY4, NLRP3, NOTCH1, PLG, SOS1, FGFR2, ACTN4, RET, HRAS, LRP2, GNRH1, MYH11, NR3C1, HSPG2, ESR1, PIK3R1, FLNB, SHH

BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FRASER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, 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, MELNICK-NEEDLES SYNDROME, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, MACHADO-JOSEPH DISEASE, FECHTNER SYNDROME, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, SICKLE CELL ANEMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ?BARDET-BIEDL SYNDROME 19, ?PROGESTERONE RESISTANCE, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, COENZYME Q10 DEFICIENCY, PRIMARY, 3, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, C3 DEFICIENCY, JOUBERT SYNDROME 6, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MICROVILLUS INCLUSION DISEASE, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OCCIPITAL HORN SYNDROME, WRINKLY SKIN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CARPENTER SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {BUDD-CHIARI SYNDROME}, EMBERGER SYNDROME, COACH SYNDROME, CULLER-JONES SYNDROME, PALLISTER-HALL SYNDROME, LOWE SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, ?JOUBERT SYNDROME 22, BANNAYAN-RILEY-RUVALCABA SYNDROME, WHIM SYNDROME, NEPHROTIC SYNDROME, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, 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}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, VISCERAL MYOPATHY, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OVARIAN DYSGENESIS 1, MECKEL SYNDROME 3, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, RENAL TUBULAR ACIDOSIS, DISTAL, AD, JOUBERT SYNDROME-3, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 17, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ROBINOW SYNDROME, NEPHRONOPHTHISIS 11, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), 46,XX SEX REVERSAL, TYPE 2, 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, WARBURG MICRO SYNDROME 1, LYMPHEDEMA, HEREDITARY, ID, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 3MC SYNDROME 1, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, DYSAUTONOMIA, FAMILIAL, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, COWDEN SYNDROME 7, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, SENIOR-LOKEN SYNDROME 9, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPINOCEREBELLAR ATAXIA 42, METHYLMALONIC ACIDURIA, MUT(0) TYPE, BERGER DISEASE, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, WARBURG MICRO SYNDROME 3, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, DENT DISEASE 2, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

CA2, APOE, SEC23A, F2, HBB, WNT5A, PRSS1, APRT, ACTB, GNAS, CIITA, CTSA, AP2S1, AGT, PPARG, LEP, AGTR1, OTX2, PRKAR1A, ITGA2B, GJA1, BTK, FGA, B2M, SLC17A5, MYO1E, PDE6D, DNM2, PIK3CA, BMP4, OCRL, CREBBP, GATA3, MAFB, ATP6V0A2, SF3B4, MUSK, SOX9, GP1BA, GRIP1, SOX2, ERBB3, FSHR, EGFR, ACTN4, IGF2, FLT4, NOS3, GLI2, GATA2, KIF5A, SCARB2, PGR, COPA, CBL, COL2A1, CCND1, IFNG, RAB3GAP1, VPS33B, GLIS3, CD44, DSE, VEGFC, HSPD1, ROR2, SPRY2, GSC, RAB18, WAS, AIRE, SEC23B, RAB23, PITX2, PIGR, GPC3, ITGB3, CACNA1G, TRAF3IP1, TGFB2, SMAD4, DVL3, VWF, SLC4A1, GHR, HLA-DRB1, FLNA, CASR, F5, MYO5B, BMP2, DBH, C3, FN1, PRKDC, CFTR, MUT, APOA1, NPHS1, TMEM67, ATP5A1, GLI3, PDSS2, AQP2, SNCA, EFNB1, ATIC, PTEN, SLC9A3R1, GSN, ITGA6, RB1, AHI1, ATP6V1B1, DLG3, VPS45, MASP1, HNRNPK, PAX3, PRKCD, TGFB1, PTPN11, ATM, GATA6, TBP, DTNBP1, ATP7A, IFT27, IKBKAP, ATXN1, INSR, PLG, SOS1, CXCR4, PACS1, LRP5, DMXL2, MARS2, GATA4, PARK2, RET, CTCF, CTLA4, HRAS, HLA-DQB1, ATXN3, MYH9, ADA, OCLN, MYH11, ATR, HSPG2, EXOC8, CD46, PIK3R1, MTOR, SHH

D-BIFUNCTIONAL PROTEIN DEFICIENCY, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 4B, CARDIOFACIOCUTANEOUS SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3

PEX12, PEX16, PEX1, HSD17B4, IKBKAP, PEX11B, PEX5, SMAD3, PEX13, PEX2, MAP2K2, BRCA1, ABCD1, ABCD4, AGXT, PEX19, PEX6

EMBERGER SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, ID, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GLANZMANN THROMBASTHENIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {BUDD-CHIARI SYNDROME}, SEA-BLUE HISTIOCYTE DISEASE, SICKLE CELL ANEMIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RABSON-MENDENHALL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, SPINOCEREBELLAR ATAXIA 17, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY

APOE, F2, HBB, ERBB3, TGFB2, F5, IGF2, TGFB1, VWF, NOS3, CTCF, TBP, ITGB3, AGT, GATA2, LEP, INSR, DBH, PLG, ITGA2B, FGA, ACTN4, APOA1, VEGFC, FN1, ADA, PRSS1, HSPG2, PTEN

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, MULLERIAN APLASIA AND HYPERANDROGENISM, PREMATURE OVARIAN FAILURE 7, VERHEIJ SYNDROME, PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MANNOSIDOSIS, ALPHA-, TYPES I AND II, OTOPALATODIGITAL SYNDROME, TYPE II, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, 46XY SEX REVERSAL 9, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DESMOID DISEASE, HEREDITARY, ACRODERMATITIS ENTEROPATHICA, CARASIL SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HOLOPROSENCEPHALY-9, SICKLE CELL ANEMIA, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ?PROGESTERONE RESISTANCE, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), OGDEN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, RENAL TUBULAR DYSGENESIS, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, HYPOURICEMIA, RENAL, JOUBERT SYNDROME 6, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, BENIGN FAMILIAL HEMATURIA, PEROXISOME BIOGENESIS DISORDER 14B, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, POLYCYSTIC LIVER DISEASE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, FLOATING-HARBOR SYNDROME, FACTOR VII DEFICIENCY, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PRADER-WILLI SYNDROME, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, CARPENTER SYNDROME, HAY-WELLS SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ?JOUBERT SYNDROME 22, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?OSTEOGENESIS IMPERFECTA, TYPE X, COWDEN SYNDROME 7, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, OOCYTE MATURATION DEFECT 1, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, PLEUROPULMONARY BLASTOMA, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 46,XX SEX REVERSAL, TYPE 2, HPRT-RELATED GOUT, MAY-HEGGLIN ANOMALY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, RENAL GLUCOSURIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 1, JUVENILE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, SMED STRUDWICK TYPE, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, DONNAI-BARROW SYNDROME, COACH SYNDROME, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MEIER-GORLIN SYNDROME 1, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, HYPOPHOSPHATASIA, INFANTILE, OROFACIODIGITAL SYNDROME I, HEPATIC ADENOMA, SOMATIC, SENIOR-LOKEN SYNDROME 5, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, ?BARDET-BIEDL SYNDROME 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, RAINE SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, DYSKERATOSIS CONGENITA, X-LINKED, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ALAGILLE SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, DENYS-DRASH SYNDROME, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, MARTSOLF SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, CARPENTER SYNDROME 2, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, AMYLOIDOSIS, FINNISH TYPE, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, CORTISONE REDUCTASE DEFICIENCY 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, JOUBERT SYNDROME 10, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SHWACHMAN-DIAMOND SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPEROXALURIA, PRIMARY, TYPE II, EVEN-PLUS SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, FRUCTOSE INTOLERANCE, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, 46XY SEX REVERSAL 3, PEPCK DEFICIENCY, MITOCHONDRIAL, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, GLYCEROL KINASE DEFICIENCY, 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}, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, NEU-LAXOVA SYNDROME 1, 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, ICHTHYOSIS, X-LINKED, C4A DEFICIENCY, POLYGLUCOSAN BODY DISEASE, ADULT FORM, C1Q DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, BLOOM SYNDROME, LARSEN SYNDROME, SPERMATOGENIC FAILURE 7, SECKEL SYNDROME 1, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BRANCHIOOCULOFACIAL SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GITELMAN SYNDROME, LESCH-NYHAN SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, CYSTINURIA, DIABETES INSIPIDUS, NEPHROGENIC, 3MC SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, NEPHRONOPHTHISIS 11, MECKEL SYNDROME 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SEA-BLUE HISTIOCYTE DISEASE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, SECKEL SYNDROME 7, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, CALCIUM OXALATE UROLITHIASIS, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, 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, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, WARBURG MICRO SYNDROME 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BETA-UREIDOPROPIONASE DEFICIENCY, ?BARDET-BIEDL SYNDROME 19, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PCWH SYNDROME, JOHANSON-BLIZZARD SYNDROME, OROTIC ACIDURIA, HARTSFIELD SYNDROME, SPERMATOGENIC FAILURE, X-LINKED, 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NORUM DISEASE, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, JOUBERT SYNDROME 5, HOLOPROSENCEPHALY-3, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, MECKEL SYNDROME 10, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, DEMENTIA, FAMILIAL, NONSPECIFIC, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, OOCYTE MATURATION DEFECT 2, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, AXENFELD-RIEGER SYNDROME, TYPE 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, SENIOR-LOKEN SYNDROME 6, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, SERKAL SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA 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, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, PREMATURE OVARIAN FAILURE 1, COMPLEMENT FACTOR H DEFICIENCY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, JOUBERT SYNDROME-3, ?N SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SESAME SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MCARDLE DISEASE, 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, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, 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, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, OCCIPITAL HORN SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, SPERMATOGENIC FAILURE 8, APERT SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, 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, PAPILLORENAL SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, LYMPHEDEMA, HEREDITARY, ID, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?HYPERPROLACTINEMIA, GLUCOCORTICOID RESISTANCE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, VESICOURETERAL REFLUX 8, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, AGAMMAGLOBULINEMIA, X-LINKED 1, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ULNAR-MAMMARY SYNDROME, STROMME SYNDROME, TRIGONOCEPHALY 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PIERSON SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, BIRT-HOGG-DUBE SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, METHEMOGLOBINEMIA, TYPE IV, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, ?MECKEL SYNDROME 9, BRUCK SYNDROME 2, WHITE SPONGE NEVUS 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ALKAPTONURIA, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, {BUDD-CHIARI SYNDROME}, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, HYPOMAGNESEMIA 2, RENAL, BJORNSTAD SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, SECKEL SYNDROME 5, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, 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, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, LATHOSTEROLOSIS, PERRAULT SYNDROME 5, CHILD SYNDROME, METACHROMATIC LEUKODYSTROPHY, SECKEL SYNDROME 9, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, EHLERS-DANLOS SYNDROME, TYPE IV, GLYCOGEN STORAGE DISEASE XI, RENPENNING SYNDROME, GLYCOGEN STORAGE DISEASE X, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, JOUBERT SYNDROME 18, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, PREIMPLANTATION EMBRYONIC LETHALITY, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SPINOCEREBELLAR ATAXIA 42, MYOGLOBINURIA, RECURRENT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SIALURIA, DENT DISEASE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

CA2, TSC2, DNA2, HBB, EDNRA, TCTN3, APOE, GP1BA, GNAS, CIITA, COL3A1, ATP6V1B1, SLC5A2, TP63, LRRK2, UBA1, CDC6, B2M, LHCGR, SPINK1, ITGA3, FH, PHF8, SEC23A, ARSE, TYROBP, OCRL, CREBBP, GNE, HGD, MAFB, DYNC2H1, AQP2, TRPV4, SOX2, APOA1, GK, AR, RNF216, BUB1B, MTOR, THBD, KCNJ10, TAF6, CTSA, CATSPER1, MEGF8, DSP, CCND1, AP2S1, HNF4A, SLC6A19, VEGFC, HSPD1, ROR2, MT-CYB, TNNT2, PGAM2, XPNPEP3, FXYD2, DUSP6, FAH, SLC12A1, SSR4, SUFU, SMAD4, BCS1L, DVL3, CHST14, CEP290, C1R, SLC34A1, TNFSF11, APC, PCK1, PQBP1, RIPK4, INPPL1, PRKCD, NPHS1, HFE, HNRNPK, EZH2, GLI3, NSDHL, PTPRO, PEX13, ZBTB16, HSPA9, EFNB1, ACTB, BGLAP, HAMP, TSC1, MTM1, TAC3, PTPRZ1, POLA1, CUL4B, GRHPR, ZFPM2, FGF23, MASP1, PINK1, EIF2B5, NPHP1, PUF60, PTPN11, LPL, GATA4, SPG7, IFT27, DMPK, MT-CO2, SRCAP, LCAT, CXCR4, BPGM, COL4A3, PTRH2, STAR, ZMPSTE24, VIPAS39, SNRPB, BCOR, CTNS, IFNGR1, EGFR, ATXN3, MYH9, DHCR24, NR3C1, EXOC8, PIGR, PDE4D, ACTG2, PEX5, FSHB, DNM2, PARK7, TREX1, IRX5, TRAIP, NAA10, NR4A2, ACP2, SEMA3E, COL1A2, TNXB, ITGA2B, UBE2A, IDUA, FGA, DNASE1, MYO1E, WT1, PROK2, NEK8, MT-CO3, PKHD1, AKR1C4, CDC73, AP5Z1, ARHGDIA, DLL4, MYH3, NR5A1, HSD11B1, GNAI2, CD81, KIF1A, SBDS, SOX9, LDHA, TGFB2, ALDOB, MAP2K2, TFAP2A, CYP7B1, FSHR, ALS2, NOTCH1, TTC37, GPI, POLG, SCARB2, PRODH, DMXL2, EHHADH, NLRP3, B9D2, PRKACG, SPINT2, SCP2, PTH1R, VPS33B, LRP5, NRAS, ACTA2, KAT6B, KRT13, ETFDH, SLC22A12, FANCA, STS, RB1, RAB18, VPS35, BRAF, SLC26A3, USP8, ORC4, ALPL, ITGA8, PLEC, FLT4, SMAD9, CTCF, UBR1, SC5D, PEX11B, NIN, LRP2, BMP2, CRB2, NDN, BBS10, KL, TXNL4A, FGFR1, DVL1, PARK2, ERBB3, ETFA, LIPA, SOX18, SI, TUBB8, SCNN1G, SNCA, SARS2, SLC20A2, PRSS1, FREM2, KCNH1, ITGA6, KIT, UMOD, AGPAT2, DLG3, VPS45, KRT8, PAX3, ASXL1, PRKCSH, ITGB4, SLC39A4, TEX11, DTNBP1, EIF2AK3, CD46, MAP3K1, MUT, NOS3, PLG, COQ9, BLM, NIPBL, ACTN4, TINF2, WDR60, OFD1, AGA, CTLA4, FLNB, HSD3B2, TMEM67, WNT4, ADA, SLC36A2, SMAD3, HSPG2, FCGR2A, C10orf2, F10, ATIC, DICER1, LMNA, F2, PKD1, SALL1, F7, CENPF, HEXB, MUC1, RPS26, ATP6V1B2, AGT, PMM2, LEP, PPP1R3A, KDM1A, EDNRB, RBMX, KMT2A, ECE1, CYB5A, STK11, LIPE, PDE6D, PPP1R15B, LAMB2, KISS1, FANCM, PIK3CA, ABCD1, LTBP4, BMPER, JAG1, C1QC, COL2A1, NF1, FAT4, F5, GRIP1, GBE1, HTR1A, CBL, TWIST2, LZTR1, IGF2, PGK1, NOTCH2, MAPT, CAD, GATA2, KIF5A, SCNN1A, MSMO1, CEP152, PLOD1, LYZ, SNCAIP, ANLN, TALDO1, KRT16, CD44, DSE, C3, FKBP14, SPRY2, TBX3, GUCY2C, ESR1, GSC, GP9, RPS6KA3, WAS, RPL26, PIK3R2, FAM20C, ITGB3, DKC1, HPRT1, GALNT3, PAX2, LMX1B, HLA-DRB1, INPP5E, GNA11, SLC9A6, RAPSN, ARL6, BRCA1, FN1, SEMA3A, SMS, BMPR1A, ATP5A1, PHGDH, CHMP2B, POLD1, EIF2B2, HNF1A, PTEN, FGFR3, SLC9A3R1, GSN, CFH, SOX10, SLC4A4, AHI1, SERPINC1, SLC40A1, LHB, STUB1, EIF2B1, B9D1, CASP10, MED25, TNFAIP3, TBP, ATP7A, FGF10, TGFB1, REN, UPK3A, STAMBP, POMT1, SOS1, CBX2, GBA, RAB3GAP1, GATA6, PLOD2, TRH, UPB1, HRAS, PEX6, COQ6, OCLN, HTRA1, ZP1, IRF6, PRLR, SLC12A3, KIF1BP, REEP2, BRCA2, PODXL, IGSF1, APRT, CNBP, PIGT, GLB1, STK10, NBN, PPARG, CD19, AGTR1, OTX2, PRKAR1A, KISS1R, BTK, MAN2B1, EFEMP2, CLASP1, HNF1B, NEU1, TRIM32, BMP4, SNAI2, FGD1, CECR1, RAB3GAP2, UMPS, ATP6V0A2, RRM2B, ANXA5, PTCH1, WNT7A, FBLN5, GLI2, ATXN1, FLCN, TLE6, SCNN1B, IFT172, LMNB1, CACNA1D, NPHS2, TRMT10A, PGR, COPA, KRT18, IKBKAP, HS6ST1, IFNG, C4A, DCHS1, AVPR2, FMR1, FANCC, CCDC22, SLC4A1, CLP1, NUP107, NR3C2, NOTCH3, SF3B4, SLC7A7, VPS13C, IQCB1, SEC23B, JAM3, CFB, LARS, TTR, GPC3, CACNA1G, VHL, GJA1, CFHR3, SMARCA2, AHSG, COL4A1, SLC7A9, VWF, MECP2, PDCD1, CASR, FOXF1, MYO5B, PYGM, FOXP3, SLC3A1, C1QA, KRAS, PRKDC, WNT5A, CFTR, CFI, C1QB, ELN, NUP93, CDKN1C, MUSK, ITPR3, GNRH1, CHRM3, ACE, FLNA, DNAJC13, PSAP, RAB23, HCCS, BMPR1B, ATXN2, PRNP, ATM, SPG11, ETFB, EXT2, ORC1, INSR, SERPINH1, PITX2, FGFR2, PACS1, SPAST, CDKN1B, GLA, FAM20A, RET, PEX19, PNP, HPS1, HACE1, PIGA, CFHR1, MYH11, ATR, B4GAT1, PCK2, PIK3R1, PC, ARSA, SHH

BARAITSER-WINTER SYNDROME 1, MANNOSIDOSIS, ALPHA-, TYPES I AND II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, GLUCOCORTICOID RESISTANCE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, MICROVILLUS INCLUSION DISEASE, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUCOPOLYSACCHARIDOSIS IH, CYSTINOSIS, OCULAR NONNEPHROPATHIC, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CARPENTER SYNDROME, HAY-WELLS SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE I, WHIM SYNDROME, 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, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CLOVE SYNDROME, SOMATIC, ESTROGEN RESISTANCE, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, METACHROMATIC LEUKODYSTROPHY, PARKINSON DISEASE 6, EARLY ONSET, SPINOCEREBELLAR ATAXIA 17, ROBINOW SYNDROME, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, 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, PIEBALDISM, DIABETES INSIPIDUS, NEPHROGENIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, 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, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

CD44, APOE, DVL3, TGFB2, PPARG, GJA1, APOA1, B2M, PINK1, GNRH1, MYH3, HEXB, MAP3K1, ACP2, AGTR1, TGFB1, PIK3CA, NOS3, CXCR4, AP2S1, RAB23, DVL1, CASR, MYO5B, AGT, BCL10, DMPK, HLA-DRB1, SPRY4, TP63, LRRK2, TNFAIP3, ERBB3, PAX2, BRCA1, MTOR, FN1, PKD1, IDUA, FGA, ESR1, CBL, PLG, TINF2, MAN2B1, GLB1, ATXN1, GLA, NPHS1, LIPA, VPS33B, LRP2, NEU1, TBP, AGA, PSAP, HRAS, BMP4, CTNS, EGFR, SNCA, ARSA, STS, ACTB, AQP2, FGFR3, PAX3, NR3C1, HSPG2, ADA, EXOC8, CFTR, BTK, GNAI2, SCARB2, KIT, HPS1, CTSA, NF1

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, MULLERIAN APLASIA AND HYPERANDROGENISM, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), 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, BARDET-BIEDL SYNDROME 16, 46XY SEX REVERSAL 9, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, LUJAN-FRYNS SYNDROME, DESMOID DISEASE, HEREDITARY, HERMANSKY-PUDLAK SYNDROME 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, ACRODERMATITIS ENTEROPATHICA, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, CARASIL SYNDROME, BARTTER SYNDROME, TYPE 4B, DIGENIC, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARDET-BIEDL SYNDROME 17, HOLOPROSENCEPHALY-9, SICKLE CELL ANEMIA, BOUCHER-NEUHAUSER SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ?PROGESTERONE RESISTANCE, LARON DWARFISM, ?MECKEL SYNDROME 9, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RENAL TUBULAR DYSGENESIS, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, MEND SYNDROME, OCCIPITAL HORN SYNDROME, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, PERRAULT SYNDROME 1, VON WILLEBRAND DISEASE, TYPE 1, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, HYPOURICEMIA, RENAL, JOUBERT SYNDROME 6, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, BENIGN FAMILIAL HEMATURIA, PEROXISOME BIOGENESIS DISORDER 14B, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FANCONI-BICKEL SYNDROME, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, NAIL-PATELLA SYNDROME, FLOATING-HARBOR SYNDROME, FACTOR VII DEFICIENCY, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PRADER-WILLI SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 10, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, JOUBERT SYNDROME 15, JOUBERT SYNDROME 13, CARPENTER SYNDROME, HAY-WELLS SYNDROME, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {BUDD-CHIARI SYNDROME}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRICHOHEPATOENTERIC SYNDROME 1, 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, VAN MALDERGEM SYNDROME 2, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, ?MECKEL SYNDROME 12, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, OPITZ-KAVEGGIA SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, OOCYTE MATURATION DEFECT 1, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, BARBER-SAY SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, SMITH-MAGENIS SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, PLEUROPULMONARY BLASTOMA, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, MELNICK-FRASER SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ABCD SYNDROME, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, EHLERS-DANLOS SYNDROME, TYPE VI, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, DYSAUTONOMIA, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, CURRARINO SYNDROME, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), UROFACIAL SYNDROME 1, 46,XX SEX REVERSAL, TYPE 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MAY-HEGGLIN ANOMALY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, RENAL GLUCOSURIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 1, JUVENILE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, SMED STRUDWICK TYPE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 25, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, DONNAI-BARROW SYNDROME, COACH SYNDROME, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, NEPHROLITHIASIS, TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MEIER-GORLIN SYNDROME 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PERRAULT SYNDROME 4, HYPOPHOSPHATASIA, INFANTILE, OROFACIODIGITAL SYNDROME I, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, SENIOR-LOKEN SYNDROME 5, JOUBERT SYNDROME 20, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, SESAME SYNDROME, ?BARDET-BIEDL SYNDROME 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, OGDEN SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, ?PERRAULT SYNDROME 2, CENANI-LENZ SYNDACTYLY SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, OMODYSPLASIA 1, MECKEL SYNDROME 11, C SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL DOMINANT 3, HEMOCHROMATOSIS, TYPE 2B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, DYSKERATOSIS CONGENITA, X-LINKED, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MARTSOLF SYNDROME, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, AMYLOIDOSIS, FINNISH TYPE, OLIVER-MCFARLANE SYNDROME, CHIME SYNDROME, OPSISMODYSPLASIA, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MALOUF SYNDROME, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, CORTISONE REDUCTASE DEFICIENCY 2, 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, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, EVEN-PLUS SYNDROME, MECKEL SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CRYPTORCHIDISM, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, MECKEL SYNDROME 7, SPINOCEREBELLAR ATAXIA 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, KINDLER SYNDROME, NOONAN SYNDROME 10, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, PEROXISOME BIOGENESIS DISORDER 8B, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, 46XY SEX REVERSAL 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, LUSCAN-LUMISH SYNDROME, IMMUNODEFICIENCY 23, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, MEIER-GORLIN SYNDROME 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, ELLIS-VAN CREVELD SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ALAGILLE SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOPS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, X-LINKED, C4A DEFICIENCY, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, HOLOPROSENCEPHALY-3, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LARSEN SYNDROME, CILIARY DYSKINESIA, PRIMARY, 26, ESCOBAR SYNDROME, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, BARDET-BIEDL SYNDROME 5, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GITELMAN SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, CYSTINURIA, DIABETES INSIPIDUS, NEPHROGENIC, 3MC SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, MECKEL SYNDROME 3, SENIOR-LOKEN SYNDROME 9, UROFACIAL SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, AGAMMAGLOBULINEMIA, X-LINKED 1, SEA-BLUE HISTIOCYTE DISEASE, CPT II DEFICIENCY, LETHAL NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LOEYS-DIETZ SYNDROME 4, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, CALCIUM OXALATE UROLITHIASIS, NEPHROTIC SYNDROME, TYPE 9, DIARRHEA 6, WILSON DISEASE, SENIOR-LOKEN SYNDROME 4, CILIARY DYSKINESIA, PRIMARY, 13, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, COCKAYNE SYNDROME, TYPE B, 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, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?OSTEOGENESIS IMPERFECTA, TYPE X, CAUDAL REGRESSION SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WARBURG MICRO SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, WARBURG MICRO SYNDROME 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DENT DISEASE, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, KBG SYNDROME, ?BARDET-BIEDL SYNDROME 19, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ABLEPHARON-MACROSTOMIA SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEPHRONOPHTHISIS 2, INFANTILE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, SPERMATOGENIC FAILURE 12, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PCWH SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, JOHANSON-BLIZZARD SYNDROME, OROTIC ACIDURIA, HARTSFIELD SYNDROME, SPERMATOGENIC FAILURE, X-LINKED, 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, HMG-COA LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PAROXYSMAL EXTREME PAIN DISORDER, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, JOUBERT SYNDROME 5, BARDET-BIEDL SYNDROME 7, LEPRECHAUNISM, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, MECKEL SYNDROME 10, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SECKEL SYNDROME 1, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, GALACTOSEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, PARKINSON DISEASE 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, DEMENTIA, FAMILIAL, NONSPECIFIC, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, YUNIS-VARON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, FANCONI RENOTUBULAR SYNDROME 2, HYDROLETHALUS SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, SENIOR-LOKEN SYNDROME 6, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, SERKAL SYNDROME, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOECTODERMAL DYSPLASIA 1, 3-M SYNDROME 1, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MILLER SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BURN-MCKEOWN SYNDROME, WISKOTT-ALDRICH SYNDROME, NIJMEGEN BREAKAGE SYNDROME, NEPHRONOPHTHISIS 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE XI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, 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, ?JOUBERT SYNDROME 26, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, OLMSTED SYNDROME, SPERMATOGENIC FAILURE 3, BERGER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, PREMATURE OVARIAN FAILURE 1, COMPLEMENT FACTOR H DEFICIENCY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MYOPATHY DUE TO CPT II DEFICIENCY, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, RENAL TUBULAR ACIDOSIS, DISTAL, AD, JOUBERT SYNDROME-3, COENZYME Q10 DEFICIENCY, PRIMARY, 1, SPERMATOGENIC FAILURE 9, MEIER-GORLIN SYNDROME 4, ?N SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, 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, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, 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, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 4, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SPERMATOGENIC FAILURE 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, LADD SYNDROME, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, NEPHROTIC SYNDROME, TYPE 3, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), POLYCYSTIC KIDNEY AND HEPATIC DISEASE, SPERMATOGENIC FAILURE 8, APERT SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {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, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, STAR SYNDROME, LYMPHEDEMA, HEREDITARY, ID, NEPHROTIC SYNDROME, TYPE 10, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MUCOLIPIDOSIS II ALPHA/BETA, GALLOWAY-MOWAT SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLUCOCORTICOID RESISTANCE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, TRANSALDOLASE DEFICIENCY, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, LYMPHEDEMA, HEREDITARY, III, BARDET-BIEDL SYNDROME 3, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, ULNAR-MAMMARY SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, STROMME SYNDROME, PETERS-PLUS SYNDROME, JOUBERT SYNDROME 16, TRIGONOCEPHALY 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, SMITH-LEMLI-OPITZ 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, BARDET-BIEDL SYNDROME 8, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BARDET-BIEDL SYNDROME 4, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, METHEMOGLOBINEMIA, TYPE IV, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, 46XY SEX REVERSAL 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, VESICOURETERAL REFLUX 3, BRUCK SYNDROME 2, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, 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, NEPHRONOPHTHISIS 11, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINOCEREBELLAR ATAXIA 13, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, HYPOMAGNESEMIA 2, RENAL, ?WEBB-DATTANI SYNDROME, BJORNSTAD SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, ?LAURENCE-MOON SYNDROME, PREMATURE OVARIAN FAILURE 8, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 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}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, SECKEL SYNDROME 5, BIRT-HOGG-DUBE SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, 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, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, LATHOSTEROLOSIS, PERRAULT SYNDROME 5, CHILD SYNDROME, BARDET-BIEDL SYNDROME 13, SECKEL SYNDROME 9, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, NEPHRONOPHTHISIS 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, JOUBERT SYNDROME 14, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, RENPENNING SYNDROME, RITSCHER-SCHINZEL SYNDROME 1, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, ?SPERMATOGENIC FAILURE 13, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, WEAVER SYNDROME, HEMOCHROMATOSIS, TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GLUCOCORTICOID DEFICIENCY 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, UTERINE LEIOMYOMA, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MYOTONIC DYSTROPHY 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, BARDET-BIEDL SYNDROME 9, PREIMPLANTATION EMBRYONIC LETHALITY, HAMAMY SYNDROME, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, SPINOCEREBELLAR ATAXIA 42, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SIALURIA, DENT DISEASE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

CA2, TSC2, DNA2, HBB, EDNRA, LMNA, GP1BA, NALCN, GNAS, CIITA, COL3A1, ATP6V1B1, PHEX, TP63, LRRK2, BBS5, UBA1, CDC6, IL17RD, B2M, SLC17A5, DNAAF1, ITGA3, PIGO, ERCC6, PHF8, GNPTAB, G6PC, AGXT, TTC8, ARSE, POR, C1QB, PEX2, SBF1, HPSE2, CREBBP, GNE, MAFB, TRMT5, ETFDH, TRPV3, EVC, ATRX, TRPV4, KL, APOA1, B9D2, PTPN22, AR, LONP1, RNF216, GNRHR, GLI2, BUB1B, BBS9, MTOR, THBD, KCNJ10, TAF6, CTSA, CATSPER1, NR0B1, CBL, CCND1, DHH, AP2S1, CLEC7A, SLC6A19, VEGFC, HSPD1, ROR2, MT-CYB, ABCD4, KRAS, LARS2, CYP21A2, ANKRD11, PNPLA6, DUSP6, FAH, DYX1C1, MT-CO1, DPY19L2, HFE2, SLC35A2, SERPINC1, HNF1B, XYLT2, BCS1L, SETD2, DVL3, STAG3, SCNN1B, TMCO1, ORC6, CEP290, C1R, SLC34A1, TNFSF11, SLC19A2, CTDP1, PITX2, NARS2, INSL3, CISD2, DBH, FLVCR1, RIPK4, CPT2, INPPL1, AIP, PRKCD, NPHS1, PINK1, RAB3GAP1, GLI3, NSDHL, PTPRO, PEX13, STAMBP, ACTA2, HSPA9, EFNB1, ACTB, HAMP, MTM1, COQ9, NANOS1, PTPRZ1, EYA1, POLA1, CUL4B, PIGN, ZFPM2, FGF23, MASP1, HNRNPK, PIGA, LHCGR, NPHP1, SEC23A, WNT3, PTPN11, CXCR4, GATA4, SPG7, IFT27, DMPK, SPRY4, MT-CO2, RBMX, SRCAP, FMR1, LPL, COL4A3, PTRH2, DMXL2, MAPRE2, ZMPSTE24, SNRPN, PARK2, HLA-DQB1, CLCNKB, SNRPB, FH, CTCF, IFNGR1, FANCL, TMEM138, ATXN3, SLC6A20, SARS2, COX7B, PDSS2, CYP7B1, NR3C1, EXOC8, HRAS, SOS2, ACE, BMPR1A, ACTG2, PEX5, SKI, FSHB, GPI, FAM58A, PARK7, TREX1, IRX5, TRAIP, MAP2K2, MKS1, NR4A2, F5, SEMA3E, RAI1, GBA2, ALPL, B3GLCT, TMEM237, PTDSS1, HARS2, ITGA2B, UBE2A, TAF4B, FGA, KMT2A, BBS1, WT1, IKBKAP, PROK2, COX8A, NEK8, MT-CO3, PKHD1, SOS1, COG6, CYP11B1, CDC73, TYROBP, MEFV, ARHGDIA, SPAST, MYH3, NR5A1, HSD11B1, CLDN19, CUL7, KIF1A, SLC4A4, FIG4, SOX9, RRM2B, TGFB2, DNAI2, ABCC6, CLCNKA, ZP1, FSHR, SLC34A3, TMEM231, NOTCH1, COX6B1, TTC37, SACS, LDHA, CYB5A, POLG, SCARB2, UBR1, SLC39A4, AFF4, STAR, EHHADH, ESR1, GK, PRKACG, SCP2, RBM10, PTH1R, VPS33B, NRAS, FAT4, DYNC2H1, RAB40AL, SLC22A12, CASR, SI, STS, RB1, RAB18, VPS35, RARB, BRAF, SLC26A3, PIGR, ORC4, DPH1, USP8, TREM2, KCNJ5, FLT4, SMAD9, CTNS, GHR, SC5D, PEX11B, BMP2, TMEM70, B4GALNT1, EDNRB, HMGCL, NDN, SOX2, KANSL1, NPHP3, FGFR1, SLC26A8, DVL1, ATXN1, ERBB3, FRAS1, EGFR, LRP2, SCNN1G, AQP2, BSND, DHCR24, SLC20A2, NF1, FREM2, KCNH1, TXNL4A, ITGA6, KIT, DHODH, AGPAT2, AIRE, PEX1, DLG3, UQCC2, VPS45, C21orf59, KRT8, PAX3, ASXL1, PRKCSH, ITGB4, PLCE1, HYLS1, TEX11, KMT2D, SRD5A2, TACR3, ZFYVE26, TSC1, TBCE, MUT, SCO1, RECQL4, NOTCH2, PLG, ADCK4, ETFA, BLM, FCGR2B, ACTN4, TINF2, LRP5, SLC5A2, INPP5E, PIEZO1, CTLA4, KIF1BP, HSD3B2, PEX16, TMEM67, STRA6, MAPT, ADA, REEP2, SMAD3, ALDH18A1, HSPG2, FCGR2A, C10orf2, F10, ATIC, DICER1, PDE4D, C3AR1, F2, PKD1, CASP10, SALL1, ATXN10, F7, CENPF, INVS, HEXB, MUC1, CYP11B2, RPS26, ATP6V1B2, AGT, EZH2, LEP, NOTCH3, PPP1R3A, KDM1A, SNCA, NPHP4, ERCC8, LRP4, ECE1, STK11, KIAA0556, LIPE, SALL4, SLC37A4, PDE6D, PPP1R15B, KISS1, FANCM, PIK3CA, GALT, ABCD1, BMPER, LZTFL1, JAG1, TEK, C1QC, NAA10, GATA3, COL2A1, NIPA1, ARNT2, EIF2B2, ACP2, GRIP1, WDR34, PLEC, HTR1A, DSP, TWIST2, LZTR1, CLCN5, GPC3, IGF2, ANOS1, PGK1, NOS3, DCLRE1C, KCNJ1, SLC2A9, CAD, GATA2, KIF5A, SCNN1A, COL1A2, NNT, MSMO1, CEP152, PLOD1, LYZ, SNCAIP, IFT122, ANLN, HSD17B3, TALDO1, KRT16, ICK, CD44, DSE, C3, UMOD, FKBP14, BBS7, SPRY2, TBX3, GUCY2C, GSC, GP9, COX14, RPS6KA3, WAS, RPL26, GLIS3, PIK3R2, APOE, ATL1, ITGB3, DKC1, KIF14, NBAS, SERPINH1, G6PC3, GALNT3, PAX2, LMX1B, HLA-DRB1, YAP1, TBC1D20, NAT8L, TGFB1, GNA11, BBS4, HNF4A, RAPSN, ARL6, CEP164, STEAP3, BRCA1, SOX17, STT3B, FN1, CNNM2, POLR3A, COQ2, MNX1, ATP5A1, USP9X, CHMP2B, POLD1, VANGL1, RAD51C, HNF1A, PTEN, FGFR3, SLC9A3R1, GSN, TNNT2, CFH, AMER1, SOX10, EIF2B5, AHI1, SSR4, ATXN2, SLC40A1, HDAC8, STUB1, PEX12, CLDN16, EIF2B1, B9D1, BCL10, PRNP, MED25, TNFAIP3, TBP, MYH9, FGF10, XYLT1, REN, UPK3A, FXYD2, POMT1, TCF4, PCNT, MYO1E, CBX2, GBA, WDR11, MARS2, GATA6, DTNBP1, PLOD2, COL4A1, TRH, RIT1, CRB2, PEX6, COQ6, EIF2AK3, GPC6, OCLN, HTRA1, IRF6, CD46, SLC12A1, SLC12A3, CYP17A1, FLNB, SLC36A2, IER3IP1, PODXL, CD96, IGSF1, APRT, DNAJC19, CNBP, CHRNG, MAP3K1, PIGT, DNM2, CDT1, EBP, SEMA3A, ADCY10, STK10, MBTPS2, PPARG, CD19, AGTR1, OTX2, PRKAR1A, KISS1R, ELN, TRAF3IP1, BTK, SLC2A2, RAB3GAP2, EFEMP2, CLASP1, SUFU, NEU1, COQ7, COX20, ITGA8, PIGL, PRODH, CPT1C, BMP4, BBS2, SNAI2, REEP1, WNT4, CECR1, SMAD4, WFS1, RXFP2, UMPS, OCRL, ATP6V0A2, DLL4, ANXA5, PTCH1, WNT7A, PIGY, DGKE, FBLN5, FGFR2, FLCN, EIF2B4, VHL, TLE6, CHST14, GP1BB, LMNB1, LPIN1, LRIG2, CACNA1D, EPHX1, NPHS2, EVC2, SDCCAG8, PGR, RTN2, COPA, KRT18, GNAI2, HS6ST1, IFNG, C4A, DCHS1, PRLR, AVPR2, OFD1, SLC4A1, CD81, NUP107, NBN, NR3C2, POMT2, CLP1, ZBTB16, SF3B4, SLC7A7, PROKR2, TRIM32, CYP24A1, FERMT1, IQCB1, SEC23B, JAM3, CFB, LARS, TTR, RET, CACNA1G, PQBP1, GJA1, SMARCA2, PUF60, AHSG, SLC9A6, SLC7A9, VWF, MECP2, PDCD1, EMP2, DOK7, FA2H, APC, ANKLE2, MYO5B, PYGM, FOXP3, SLC3A1, TCTN1, C1QA, SETD5, PRKDC, WNT5A, CFTR, CFI, MED12, SEC63, PGM3, FOXL2, NUP93, CDKN1C, ATP7B, MUSK, ITPR3, TFAP2A, GNRH1, CHRM3, ALG1, FLNA, DNAJC13, PSAP, RAB23, HCCS, BMPR1B, HSD17B4, DHCR7, CEP41, ATM, GLB1, SPG11, ATP7A, ETFB, EXT2, ORC1, BICC1, INSR, KIAA0196, SCN9A, EIF2B3, AP5Z1, ZNF592, PACS1, CDKN1B, FANCC, DPAGT1, PEX19, HFE, FGF20, HACE1, KCNC3, NHP2, MYH11, ATR, B4GAT1, PIK3R1, PC, COX10, SHH

ICHTHYOSIS, X-LINKED, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, GM1-GANGLIOSIDOSIS, TYPE I, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CALCIUM OXALATE UROLITHIASIS, OMODYSPLASIA 1, HOLOPROSENCEPHALY-3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, DONNAI-BARROW SYNDROME, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MUCOPOLYSACCHARIDOSIS IH, METACHROMATIC LEUKODYSTROPHY, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LOEYS-DIETZ SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

GPC3, GLB1, GPC6, APOA1, HEXB, ACP2, TGFB1, NOS3, HLA-DRB1, TGFB2, ARSA, SCARB2, BMP2, CTSA, FN1, PSAP, IDUA, CBL, DVL1, GBA, IFNG, GLA, LRP2, CD44, NEU1, NOTCH1, EGFR, STS, HSPG2, SHH

BARAITSER-WINTER SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, EMBERGER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SIALIC ACID STORAGE DISORDER, INFANTILE, LEPRECHAUNISM, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DONNAI-BARROW SYNDROME, POPLITEAL PTERYGIUM SYNDROME 1, HAY-WELLS SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, MYHRE SYNDROME, NEPHROLITHIASIS, TYPE I, HYPOPHOSPHATEMIC RICKETS, CYSTINURIA, LOEYS-DIETZ SYNDROME 3, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, WHIM SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, SMITH-KINGSMORE SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, DENT DISEASE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOPHOSPHATASIA, INFANTILE, OCULOECTODERMAL SYNDROME, CALCIUM OXALATE UROLITHIASIS, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, AGAMMAGLOBULINEMIA, X-LINKED 1, 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}, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, JOUBERT SYNDROME 16, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?BARDET-BIEDL SYNDROME 11, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

CD44, APOE, DNM2, ALPL, DNAJC13, ZFYVE26, KRAS, APOA1, B2M, HNF1B, SMAD4, IRF6, ACP2, SLC17A5, GNAS, CTSA, CXCR4, HLA-DRB1, LMNB1, ATP6V1B2, AGT, GATA2, SNCA, GNA11, SCARB2, AGTR1, LRP2, INSR, FOXP3, VPS35, PLG, FN1, PSAP, BTK, FGA, ECE1, PACS1, CCND1, GBA, ERBB3, IFNG, NEU1, EGFR, VPS33B, HLA-DQB1, CBL, TRIM32, CLCN5, SPG11, CTNS, ATP6V0A2, HRAS, TMEM138, CDC73, WDR11, AP5Z1, SLC3A1, ACTB, SLC7A7, SMAD3, SLC9A3R1, HSPG2, TP63, DYNC2H1, MTOR, PIK3R1

ALPORT SYNDROME, AUTOSOMAL DOMINANT, BENIGN FAMILIAL HEMATURIA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ALPORT SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE

COL4A3, COL4A1, COL4A4, COL4A5

D-BIFUNCTIONAL PROTEIN DEFICIENCY, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 4B, CARDIOFACIOCUTANEOUS SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3

PEX12, PEX16, PEX1, HSD17B4, IKBKAP, PEX11B, PEX5, SMAD3, PEX13, PEX2, MAP2K2, BRCA1, ABCD1, ABCD4, AGXT, PEX19, PEX6

ALPORT SYNDROME, AUTOSOMAL DOMINANT, BENIGN FAMILIAL HEMATURIA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ALPORT SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE

COL4A3, COL4A1, COL4A4, COL4A5

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BRANCHIOOCULOFACIAL SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MUCOLIPIDOSIS II ALPHA/BETA, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHRONOPHTHISIS 18, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MEIER-GORLIN SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, FECHTNER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WARBURG MICRO SYNDROME 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, HYPOPHOSPHATASIA, INFANTILE, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HEPATIC ADENOMA, SOMATIC, ?PROGESTERONE RESISTANCE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, AGAMMAGLOBULINEMIA, X-LINKED 1, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), SENIOR-LOKEN SYNDROME 5, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, ALAGILLE SYNDROME 2, ?SPERMATOGENIC FAILURE 6, INSOMNIA, FATAL FAMILIAL, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, OROTIC ACIDURIA, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, {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, RAINE SYNDROME, CENANI-LENZ SYNDACTYLY SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, ALPORT SYNDROME, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, MEIER-GORLIN SYNDROME 5, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, HAJDU-CHENEY SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, C3 DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LOEYS-DIETZ SYNDROME 3, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BENIGN FAMILIAL HEMATURIA, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, JOUBERT SYNDROME 5, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, MARTSOLF SYNDROME, FLOATING-HARBOR SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MALOUF SYNDROME, SEBASTIAN SYNDROME, PRADER-WILLI SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, LADD SYNDROME, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPOMAGNESEMIA 2, RENAL, EMBERGER SYNDROME, 3-M SYNDROME 1, ROBERTS SYNDROME, OSTEOGLOPHONIC DYSPLASIA, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, LYMPHEDEMA, HEREDITARY, IA, LOWE SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 10, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, OVARIAN DYSGENESIS 1, MYOTONIC DYSTROPHY 2, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OOCYTE MATURATION DEFECT 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, RENAL TUBULAR ACIDOSIS, DISTAL, AD, GALACTOSEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OPITZ-KAVEGGIA SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 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, SECKEL SYNDROME 1, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, LYMPHEDEMA, HEREDITARY, ID, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, DIABETES INSIPIDUS, NEPHROGENIC, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, UTERINE LEIOMYOMA, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, ?JOUBERT SYNDROME 22, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, SEA-BLUE HISTIOCYTE DISEASE, KABUKI SYNDROME 1, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, LUJAN-FRYNS SYNDROME, LOEYS-DIETZ SYNDROME 4, WAARDENBURG SYNDROME, TYPE 4C, DENT DISEASE 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

PDE4D, GPI, DNM2, PHEX, TREX1, EDNRA, WNT5A, APOE, CNBP, MAP3K1, ACTB, PGK1, COL1A2, MUC1, ITGB3, AGT, PPARG, LRRK2, PIGT, UBA1, CDC6, BTK, PKD1, SOX10, B2M, STK11, ARSE, USP8, ESCO2, BMP4, PDE6D, SUFU, TRIM32, AGXT, COG6, EFEMP2, CDC73, CD81, JAG1, SMAD4, GNAI2, ZP1, UMPS, GATA3, MAFB, CUL7, OCRL, FANCD2, ACE, TGFB2, SPATA16, ITPR3, KRAS, ERBB3, FSHR, MAP2K2, LZTR1, FAM134B, CREBBP, IGF2, FLT4, NOS3, LMNB1, MAPT, CAD, GATA2, FGFR1, SCNN1A, COQ6, LEP, LMNA, PGR, COPA, GALT, ESR1, CBL, COL2A1, CCND1, IFNG, AP2S1, VPS33B, LRP5, AVPR2, GLIS3, ICK, ATL1, DSE, VEGFC, HSPD1, DYNC2H1, ALPL, SPRY2, FGD1, ACTA2, TNNT2, GSC, FGF23, FXYD2, IQCB1, NOTCH1, SLC35A2, CEP83, FAM20C, CD44, GLB1, SI, DDHD2, GJA1, STS, HNF1B, SERPINH1, RAB3GAP2, SCNN1B, GNPTAB, SLC4A1, CEP290, HLA-DRB1, FLNA, CASR, PITX2, SOX9, VHL, RAPSN, DNAJC13, BMP2, FOXP3, VPS35, C3, FN1, INPPL1, PRKDC, EXT2, TSC2, CFTR, PARK2, APOA1, MED12, EGFR, NDN, NOTCH2, HNRNPK, EIF2AK3, NUP93, RBMX, SNCA, CDKN1C, HNF1A, ZBTB16, EFNB1, PEX5, BGLAP, TFAP2A, SLC9A3R1, NEU1, BCL10, IL17RD, ITGA6, KIT, UMOD, RB1, LRP4, ATP6V1B1, DLG3, SLC40A1, VPS45, KRT8, PRKCD, HCCS, BMPR1B, ATXN2, PRNP, SEC23A, SRCAP, ATM, SOS2, GATA4, TBP, ATP7A, FGF10, TGFB1, IER3IP1, SPRY4, TP63, ORC1, ATXN1, PTPN11, PLG, SOS1, BLM, FGFR2, ACTN4, SPAST, COL4A3, CDKN1B, GLA, GATA6, FAM20A, GNAS, TRH, CLASP1, GPC3, KMT2D, PTH1R, CTLA4, HRAS, FANCL, LRP2, MYH9, OCLN, SMAD3, ATR, HSPG2, EXOC8, CD46, SHH, YAP1, HFE, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ROBINOW SYNDROME, CULLER-JONES SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OMODYSPLASIA 1, FRASIER SYNDROME, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, HOLOPROSENCEPHALY-3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, LYMPHEDEMA, HEREDITARY, IA, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, NEPHROTIC SYNDROME, TYPE 4, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, DENYS-DRASH SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, {BUDD-CHIARI SYNDROME}, MEDULLARY CYSTIC KIDNEY DISEASE 1, CALCIUM OXALATE UROLITHIASIS, ?TETRA-AMELIA SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, FACTOR X DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, FACTOR VII DEFICIENCY, RENAL TUBULAR DYSGENESIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, SERKAL SYNDROME

SERPINC1, GPC3, F2, GPC6, PRSS1, PTEN, NOTCH1, F5, FLT4, TGFB1, WNT3, PAX2, MUC1, AGT, LEP, BMP2, NOS3, WNT7A, FN1, WNT5A, SOX10, CCND1, IFNG, WT1, BMP4, ROR2, CD44, SOS1, F10, EGFR, WNT4, GLI2, HSPG2, FGF10, EXT2, COL2A1, F7, MUSK, SHH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARAITSER-WINTER SYNDROME 1, NEPHRONOPHTHISIS 1, JUVENILE, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, BJORNSTAD SYNDROME, GLYCOGEN STORAGE DISEASE XI, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PAROXYSMAL EXTREME PAIN DISORDER, HYPOMAGNESEMIA 2, RENAL, FRASER SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA 42, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, SENIOR-LOKEN SYNDROME-1, SHORT SYNDROME, SPERMATOGENIC FAILURE 7, ESCOBAR SYNDROME, SMITH-KINGSMORE SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, BARTTER SYNDROME, TYPE 3, MYOTONIC DYSTROPHY 1, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MELNICK-NEEDLES SYNDROME, NEPHROLITHIASIS, TYPE I, HYPOPHOSPHATEMIC RICKETS, FRONTOMETAPHYSEAL DYSPLASIA, ?TETRA-AMELIA SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, OROTIC ACIDURIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, DENT DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MENTAL RETARDATION, X-LINKED 90, SENIOR-LOKEN SYNDROME 9, HERMANSKY-PUDLAK SYNDROME 1, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, JOUBERT SYNDROME 4, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, BARTTER SYNDROME, TYPE 4B, DIGENIC, EPSTEIN SYNDROME, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MYOGLOBINURIA, RECURRENT, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINOCEREBELLAR ATAXIA 13, HYPERALDOSTERONISM, FAMILIAL, TYPE III, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ROBINOW SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, SEBASTIAN SYNDROME

PEX5, TSC2, KCNJ5, CLCN5, DLG3, CACNA1G, TRAF3IP1, PRKCD, CATSPER1, HNF1B, MT-CO1, CLCNKA, CHRNG, MT-CO2, LDHA, KCNH1, NPHP1, TGFB1, SCNN1B, CPT1C, FLNA, PDE4D, KCNJ1, MYH9, AGT, CACNA1D, KIF5A, UMPS, BCS1L, GRIP1, NOS3, WNT3, MTOR, SCN9A, WNT5A, DMPK, PRKDC, ESR1, MECP2, DTNBP1, SEC63, MT-CYB, SCNN1A, CLCNKB, GLIS3, SCNN1G, CLIC2, BSND, EGFR, ABCD4, ZBTB16, KCNC3, ACTB, MUSK, SLC9A3R1, FXYD2, CFTR, EFEMP2, PRKACG, PORCN, AQP2, PIK3R1

BARAITSER-WINTER SYNDROME 1, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SENIOR-LOKEN SYNDROME 4, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?INFANTILE LIVER FAILURE SYNDROME 1, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ENDOCRINE-CEREBROOSTEODYSPLASIA, GLUCOCORTICOID RESISTANCE, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, CILIARY DYSKINESIA, PRIMARY, 20, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, DYSAUTONOMIA, FAMILIAL, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FAMILIAL MEDITERRANEAN FEVER, AR, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ESTROGEN RESISTANCE, OGDEN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, COCKAYNE SYNDROME, TYPE A, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, JOHANSON-BLIZZARD SYNDROME, WOODHOUSE-SAKATI SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, RAPADILINO SYNDROME, NEPHRONOPHTHISIS 4, BECKWITH-WIEDEMANN SYNDROME, MEIER-GORLIN SYNDROME 5, LEPRECHAUNISM, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PREMATURE OVARIAN FAILURE 7, PEUTZ-JEGHERS SYNDROME, LOEYS-DIETZ SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, NIJMEGEN BREAKAGE SYNDROME, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, 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, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, KOOLEN-DE VRIES SYNDROME, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, HAY-WELLS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MENTAL RETARDATION, X-LINKED 98, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, JOUBERT SYNDROME 10, HYPOMAGNESEMIA 2, RENAL, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BJORNSTAD SYNDROME, 3-M SYNDROME 1, CULLER-JONES SYNDROME, WEAVER SYNDROME, LUSCAN-LUMISH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, OCULOECTODERMAL SYNDROME, WILSON-TURNER SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, 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, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, NOONAN SYNDROME 10, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPERMATOGENIC FAILURE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, 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, PERLMAN SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, DE SANCTIS-CACCHIONE SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, CORNELIA DE LANGE SYNDROME 1, MALOUF SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, TUBEROUS SCLEROSIS-1, SPINOCEREBELLAR ATAXIA 17, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?N SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, IMAGE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, COCKAYNE SYNDROME, TYPE B, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ANDROGEN INSENSITIVITY, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, SHORT SYNDROME, OROFACIODIGITAL SYNDROME I, KARTAGENER SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, MEIER-GORLIN SYNDROME 1, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?MICROPHTHALMIA, SYNDROMIC 1, MYOGLOBINURIA, RECURRENT, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

TSC2, DNA2, DNAH11, LMNA, PRKAR1A, NAA10, ORC1, ACTB, PGK1, ATP6V1B1, AGT, PPARG, PPP1R3A, STT3B, DNAH5, RECQL4, KMT2A, STK11, EFEMP2, ERCC6, IKBKAP, PPP1R15B, HNF1B, PIK3CA, NBN, PCNT, NOTCH1, BMP4, CDC73, MEFV, DNAI1, ARHGDIA, DIS3L2, DNAI2, CNBP, CREBBP, PRKAG2, GNAI2, DYNC2H1, SF3B4, GLI2, SMARCA2, CHD7, KRAS, ERBB3, COPA, LZTR1, AR, PIGT, NOS3, CCDC114, TTC37, BUB1B, MTOR, LPIN1, TAF6, MECP2, ESR1, CBL, PRKACG, CCND1, NR0B1, ICK, EXOC8, KAT6B, CUL7, MT-CYB, SPRY2, CLP1, RB1, FBXL4, TP63, ERCC8, BRAF, SLC26A3, PIK3R2, SOS2, LARS, UBE2A, DNAH8, SMAD4, SETD2, HNF4A, UBR1, HLA-DRB1, TGFB2, CTDP1, VHL, BCS1L, BMP2, BRCA1, KDM1A, MYH3, KANSL1, PRKDC, CFTR, ATXN1, WAS, EGFR, NPHP4, HNRNPK, EZH2, ABCD4, GLI3, POLD1, CDC6, DNAH1, CDKN1C, PTEN, MUSK, SLC9A3R1, KIAA2022, INPPL1, AGPAT2, POLA1, CUL4B, PIGA, FLNA, POLR3A, HDAC8, STUB1, PEX2, ATXN2, CASP10, TGFB1, NR5A1, PTPN11, ATM, GATA4, TBP, BMPR1B, FXYD2, MAP3K1, PARK2, INSR, MED25, PLG, SOS1, BLM, ACTN4, SPAST, CBX2, CDKN1B, OFD1, SALL1, SNRPB, CLASP1, KMT2D, HRAS, POLG, ATXN3, OCLN, SMAD3, NR3C1, CAD, TSC1, DCAF17, PIK3R1

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, PREMATURE OVARIAN FAILURE 7, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, WOLFRAM SYNDROME, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, ACRODERMATITIS ENTEROPATHICA, CARASIL SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARDET-BIEDL SYNDROME 17, SICKLE CELL ANEMIA, BOUCHER-NEUHAUSER SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ?PROGESTERONE RESISTANCE, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RENAL TUBULAR DYSGENESIS, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, AGAMMAGLOBULINEMIA, X-LINKED 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, HYPOURICEMIA, RENAL, JOUBERT SYNDROME 6, MICROVILLUS INCLUSION DISEASE, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, BENIGN FAMILIAL HEMATURIA, FANCONI-BICKEL SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, PRADER-WILLI SYNDROME, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HAY-WELLS SYNDROME, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NEPHROTIC SYNDROME, TYPE 10, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?JOUBERT SYNDROME 22, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, WARBURG MICRO SYNDROME 4, 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, HEMOCHROMATOSIS, TYPE 4, 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, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, ABCD SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SMED STRUDWICK TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SENIOR-LOKEN SYNDROME 6, DONNAI-BARROW SYNDROME, CHIME SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, NEPHROLITHIASIS, TYPE I, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BARTTER SYNDROME, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, HEPATIC ADENOMA, SOMATIC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, ?BARDET-BIEDL SYNDROME 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, SHPRINTZEN-GOLDBERG SYNDROME, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, GM1-GANGLIOSIDOSIS, TYPE I, MECKEL SYNDROME 11, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, OCCIPITAL HORN SYNDROME, JOUBERT SYNDROME 5, PSEUDOHYPOALDOSTERONISM, TYPE I, SEBASTIAN SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OPSISMODYSPLASIA, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MALOUF SYNDROME, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, CORTISONE REDUCTASE DEFICIENCY 2, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, COACH SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, NEPHROTIC SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, PEROXISOME BIOGENESIS DISORDER 8B, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, MECKEL SYNDROME 3, RENAL TUBULAR ACIDOSIS, DISTAL, AR, 46XY SEX REVERSAL 3, 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}, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, X-LINKED, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, SESAME SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SECKEL SYNDROME 1, PIEBALDISM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, BRANCHIOOCULOFACIAL SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, GITELMAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, NEPHRONOPHTHISIS 11, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, SENIOR-LOKEN SYNDROME 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, SEA-BLUE HISTIOCYTE DISEASE, LEOPARD SYNDROME 1, BASAL CELL NEVUS SYNDROME, CALCIUM OXALATE UROLITHIASIS, 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, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, FECHTNER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DENT DISEASE, ELLIS-VAN CREVELD SYNDROME, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PCWH SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, BARDET-BIEDL SYNDROME 7, HOLOPROSENCEPHALY-3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MECKEL SYNDROME 10, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PARKINSON DISEASE 1, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, FANCONI RENOTUBULAR SYNDROME 2, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, WOLFRAM SYNDROME 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MYOTONIC DYSTROPHY 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, ?LAURENCE-MOON SYNDROME, VISCERAL MYOPATHY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, JOUBERT SYNDROME 4, PREMATURE OVARIAN FAILURE 1, ALAGILLE SYNDROME 2, RENAL TUBULAR ACIDOSIS, DISTAL, AD, JOUBERT SYNDROME-3, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BARDET-BIEDL SYNDROME 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MYHRE SYNDROME, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, LADD SYNDROME, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, SPERMATOGENIC FAILURE 8, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, {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, PAPILLORENAL SYNDROME, LYMPHEDEMA, HEREDITARY, ID, FRASER SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, GLUCOCORTICOID RESISTANCE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, LYMPHEDEMA, HEREDITARY, III, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ULNAR-MAMMARY SYNDROME, STROMME SYNDROME, PETERS-PLUS SYNDROME, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, BARDET-BIEDL SYNDROME 8, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, BARDET-BIEDL SYNDROME 4, 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, METHEMOGLOBINEMIA, TYPE IV, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ?MECKEL SYNDROME 9, BRUCK SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, {BUDD-CHIARI SYNDROME}, ARTHROGRYPOSIS, DISTAL, TYPE 2A, TUBEROUS SCLEROSIS 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, HYPOMAGNESEMIA 2, RENAL, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, BANNAYAN-RILEY-RUVALCABA SYNDROME, SENIOR-LOKEN SYNDROME-1, WHIM SYNDROME, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, 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}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, RESTRICTIVE DERMOPATHY, LETHAL, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, JOUBERT SYNDROME 20, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, LATHOSTEROLOSIS, CHILD SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GLYCOGEN STORAGE DISEASE XI, RENPENNING SYNDROME, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, BARDET-BIEDL SYNDROME 9, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SPINOCEREBELLAR ATAXIA 42, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SMITH-KINGSMORE SYNDROME

CA2, APOE, HBB, EDNRA, SLC34A1, GP1BA, GNAS, GLI3, BMPR1A, ATP6V1B1, LRRK2, BBS5, UBA1, CDC6, B2M, ITGA3, SEC23A, G6PC, TTC8, ARSE, POR, SLC4A4, CREBBP, SLC6A19, AQP2, EVC, APOA1, FSHR, AR, BUB1B, BBS9, MTOR, LEP, IFNG, CBL, CCND1, HNF4A, VEGFC, HSPD1, ABCD4, CYP21A2, TP63, SLC12A1, TRAF3IP1, SSR4, HNF1B, SMAD4, DVL3, SCNN1B, TMCO1, CEP290, PQBP1, INPPL1, STAMBP, NPHS1, BBS7, EZH2, HDAC8, NSDHL, PTPRO, SI, EFNB1, HAMP, PTPRZ1, SLC7A7, PIGA, MASP1, HNRNPK, PIGN, PIGL, PIK3R2, PTPN11, CXCR4, MAPRE2, SPG7, DMPK, SPRY4, MT-CO2, FMR1, LPL, COL4A3, STAR, GATA4, ZMPSTE24, CTNS, LRP2, SLC6A20, DHCR24, NR3C1, TSC1, HRAS, PDE4D, DNM2, PARK7, TREX1, LZTFL1, F5, PGK1, COL1A2, GBA2, B3GLCT, PTDSS1, EMP2, UBE2A, TMEM231, MYO1E, PODXL, PKHD1, CD81, BBS2, ARHGDIA, SPAST, AHSG, HSD11B1, GNAI2, CLP1, SF3B4, SOX9, FOXL2, TFAP2A, CYP7B1, SLC34A3, NOTCH1, CYB5A, SCARB2, B9D2, PTH1R, VPS33B, SLC22A12, FA2H, ACTA2, STS, RB1, FGF23, BRAF, SLC26A3, PIGR, ALPL, SLC2A2, ALG1, FLT4, SMAD9, SC5D, BMP2, EDNRB, NDN, FGFR1, DVL1, ATXN1, ERBB3, ETFA, COQ6, SCNN1G, BSND, LYZ, KIT, UMOD, OCLN, DLG3, VPS45, KRT8, NR5A1, TGFB1, SLC39A4, GATA6, SRD5A2, EIF2AK3, NOTCH2, PLG, ACTN4, SLC12A3, HSD3B2, PEX16, TMEM67, ADA, SMAD3, HSPG2, ESR1, F10, ATIC, LMNA, F2, PKD1, F7, CENPF, CTSA, MUC1, AGT, SNCA, RBMX, STK11, LIPE, PDE6D, KISS1, PIK3CA, MYH9, TEK, COL2A1, ARNT2, ACTB, GRIP1, PLEC, DSP, ELN, EGFR, LZTR1, CLCN5, IGF2, NOS3, CAD, SCNN1A, MSMO1, PLOD1, ITGA6, ANLN, HSD17B3, TALDO1, CD44, C3, FKBP14, SPRY2, GUCY2C, GSC, CLDN16, RPS6KA3, WAS, ATL1, ITGB3, G6PC3, PAX2, LMX1B, HLA-DRB1, TBC1D20, NAT8L, VHL, BCS1L, RAPSN, ARL6, FN1, CNNM2, TSC2, ATP5A1, KISS1R, PIGO, HNF1A, PTEN, TRPV4, SLC9A3R1, SOX10, AHI1, SERPINC1, SLC40A1, PRKCD, STUB1, EIF2B1, B9D1, BCL10, KCNJ10, CPT1C, ITGA2B, TBP, ATP7A, FGF10, ITGB4, UPK3A, PNPLA6, POMT1, SOS1, BBS1, PLOD2, TRH, RET, CRB2, CISD2, FXYD2, AGPAT2, HTRA1, IRF6, CD46, TINF2, CYP17A1, KIF1BP, REEP2, IGSF1, APRT, PIGT, NPHP1, EBP, GLB1, TBX3, PPARG, AGTR1, BBS4, PRKAR1A, EIF2B2, BTK, CLASP1, TRIM32, BMP4, XYLT1, XYLT2, WFS1, DLL4, ANXA5, PTCH1, SMARCA2, PIGY, KRAS, LMNB1, LPIN1, EPHX1, NPHS2, EVC2, PGR, COPA, KRT18, CLDN19, NR0B1, AVPR2, SLC4A1, CUL7, NUP107, POMT2, NOTCH3, NR3C2, REEP1, DTNBP1, SEC23B, JAM3, TTR, DPAGT1, CACNA1G, GJA1, ACE, MYH3, SLC9A6, LDHA, VWF, PRODH, CASR, ANKLE2, MYO5B, FOXP3, CFTR, SEC63, PIEZO1, ABCC6, NUP93, SLC37A4, ITPR3, CHRM3, FLNA, POLR3A, BMPR1B, DHCR7, PRNP, IER3IP1, EXT2, INSR, SERPINH1, GPC3, PEX19, GNRH1, MYH11, ATR, SHH, HFE, PIK3R1