GENITOURINARY

TUBEROUS SCLEROSIS 2, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LEOPARD SYNDROME 1

PDCD1, HLA-DQB1, IFNG, HLA-DRB1, B2M, IFNGR1, PTPN11

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MICROPHTHALMIA, SYNDROMIC 6, CUTIS LAXA, AD, IMAGE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BECKWITH-WIEDEMANN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, GLANZMANN THROMBASTHENIA, LOEYS-DIETZ SYNDROME 4, MYHRE SYNDROME, ALAGILLE SYNDROME, RENAL ADYSPLASIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1

LTBP4, COL1A2, BMP4, BMPER, TGFB2, ITGB3, BMPR1B, ITGA8, SMAD4, CDKN1C, ELN, EGFR, BMP2, FBLN5, EFEMP2, FN1, TGFB1, JAG1, NOTCH1

BARAITSER-WINTER SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, FRASIER SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, VON WILLEBRAND DISEASE, TYPE 1, HOLOPROSENCEPHALY-3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, LYMPHEDEMA, HEREDITARY, ID, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, MELNICK-NEEDLES SYNDROME, NEPHROTIC SYNDROME, TYPE 4, FRONTOMETAPHYSEAL DYSPLASIA, GLANZMANN THROMBASTHENIA, DENYS-DRASH SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {BUDD-CHIARI SYNDROME}, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GALACTOSIALIDOSIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, SPINOCEREBELLAR ATAXIA 17, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

F5, ITGB3, SOX2, APOA1, ACTB, ACTN4, IGF2, TGFB1, VWF, NOS3, CTCF, HSPG2, TBP, TGFB2, AGT, CTSA, PLG, ITGA2B, PSAP, FGA, F2, ERBB3, IFNG, WT1, CD44, VEGFC, FN1, EGFR, FLNA, GSN, PIK3R1, SHH

PAPILLORENAL SYNDROME, BARAITSER-WINTER SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ROBINOW SYNDROME, OSTEOGLOPHONIC DYSPLASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, WEAVER SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CLOVE SYNDROME, SOMATIC, LEOPARD SYNDROME 1, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ESTROGEN RESISTANCE, CARDIOFACIOCUTANEOUS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYHRE SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OPSISMODYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NOONAN SYNDROME 9, AU-KLINE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, WNT5A, GJA1, ERBB3, NRAS, MAP2K2, VWF, SMAD4, NOTCH1, PLEC, UBE2A, PIK3R2, TGFB1, IGF2, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, MTOR, SNCA, SPRY4, LEP, FGF23, TNFAIP3, PAX2, BMP4, FGF17, ITGA2B, FGF20, KRAS, INPPL1, SOS1, FGA, RPS6KA3, B2M, ACTN4, BRAF, CCND1, CBL, PRKCD, CDKN1B, IL17RD, NF1, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, ACTB, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, RB1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PIEBALDISM, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE II, VON WILLEBRAND DISEASE, TYPE 1, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, HOLOPROSENCEPHALY-3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, WHIM SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOSPADIAS 1, X-LINKED, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLANZMANN THROMBASTHENIA, CUTIS LAXA, AD, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, NEPHROTIC SYNDROME, TYPE 12, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, BENIGN FAMILIAL HEMATURIA, CALCIUM OXALATE UROLITHIASIS, ANDROGEN INSENSITIVITY, FRONTOMETAPHYSEAL DYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ROBINOW SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, SPINOCEREBELLAR ATAXIA 17, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, ALPORT SYNDROME

SOX9, PRSS2, DLL4, ITGB3, FBLN5, WNT7A, ELN, SMAD4, COL4A1, AR, VWF, TGFB1, FLNA, COL3A1, CXCR4, TBP, SPINT2, AGT, VHL, COL4A4, BMP2, PAX2, PLG, FN1, WNT5A, SOX10, CCND1, F2, DVL1, COL4A3, IFNG, LRP2, COL4A5, PKD1, TRH, CD44, NUP93, NOTCH1, BMP4, COL1A2, EGFR, BMPER, SNAI2, PRSS1, SMAD3, AHSG, HSPG2, COL2A1, PTEN, SHH

PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, HAY-WELLS SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

TSC2, FGF23, KL, ERBB3, NOTCH1, PIK3R2, TGFB1, PAX2, LEP, AGT, MTOR, FGFR1, ESR1, INSR, NOS3, FGF17, SOS1, FGFR2, FGF20, CDKN1B, BMP4, PTPN11, PIK3CA, HRAS, CD19, EGFR, PTEN, FGFR3, RPS6KA3, FGF10, TP63, SOS2, KIT, PIK3R1

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SHORT SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CHIME SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, DYSAUTONOMIA, FAMILIAL, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, PETERS-PLUS SYNDROME, NEPHROTIC SYNDROME, TYPE 11, PITUITARY ADENOMA, ACTH-SECRETING, CALCIUM OXALATE UROLITHIASIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, BOHRING-OPITZ SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ICHTHYOSIS, X-LINKED, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, C3 DEFICIENCY, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, FRONTOMETAPHYSEAL DYSPLASIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PRADER-WILLI SYNDROME, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, {BUDD-CHIARI SYNDROME}, WEAVER SYNDROME, EVEN-PLUS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, OCULOECTODERMAL SYNDROME, SPINOCEREBELLAR ATAXIA 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ALAGILLE SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, 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, BERGER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, IMMUNODEFICIENCY 23, METACHROMATIC LEUKODYSTROPHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VON WILLEBRAND DISEASE, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LATERAL MENINGOCELE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, ?46XY SEX REVERSAL 5, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, SEA-BLUE HISTIOCYTE DISEASE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME

APOE, NEU1, F2, GP1BA, PIGT, CTSA, MUC1, DPH1, B3GLCT, PMM2, EIF2B2, BTK, B2M, SLC17A5, ALG1, SEC23A, ARSE, JAG1, IKBKAP, ACTB, KRAS, ERBB3, GNAS, NOTCH1, ARSA, COL1A2, CBL, CCND1, IFNG, CD44, GALNT3, NUP107, ADAMTS2, SPRY2, NOTCH3, STS, F7, EZH2, PIGR, GLB1, SMAD4, VWF, C3, F5, COL4A1, BMP2, F10, BRCA1, NDN, FN1, CFTR, ATXN1, EGFR, PGM3, ADAMTS13, NUP93, PIGO, ACTA2, HSPA9, GNE, XRCC4, SOX10, ITGA6, ASXL1, FLNA, PRKCD, HNRNPK, PIGN, PIGL, TGFB1, PRKCSH, EXT2, NOS3, SOS1, BLM, CBX2, DPAGT1, CTCF, HRAS, COQ6, PIGA, GNRH1, HSPG2, ESR1, MTOR, PIK3R1

BARDET-BIEDL SYNDROME 6, ?BARDET-BIEDL SYNDROME 18, BARDET-BIEDL SYNDROME 17, BARDET-BIEDL SYNDROME 10, BARDET-BIEDL SYNDROME 2, BARDET-BIEDL SYNDROME 3, BARDET-BIEDL SYNDROME 8, MCKUSICK-KAUFMAN SYNDROME, BARDET-BIEDL SYNDROME 12, BARDET-BIEDL SYNDROME 4, BARDET-BIEDL SYNDROME 9, BARDET-BIEDL SYNDROME 5, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, BARDET-BIEDL SYNDROME 7

BBS5, BBS12, ARL6, BBS2, BBS9, BBIP1, BBS4, BBS7, LZTFL1, BBS10, MKKS, BBS1, TTC8

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, GLUCOCORTICOID RESISTANCE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DIGEORGE SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HERMANSKY-PUDLAK SYNDROME 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, HEPATIC ADENOMA, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, GUTTMACHER SYNDROME, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PAROXYSMAL EXTREME PAIN DISORDER, ALPORT SYNDROME, AUTOSOMAL DOMINANT, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, LOEYS-DIETZ SYNDROME 3, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ANDROGEN INSENSITIVITY, HEMOCHROMATOSIS, TYPE 2B, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, OVARIAN HYPERSTIMULATION SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, UTERINE LEIOMYOMA, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, FANCONI-BICKEL SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, HAND-FOOT-UTERUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NEPHROTIC SYNDROME, TYPE 8, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SEBASTIAN SYNDROME, OHDO SYNDROME, X-LINKED, AMYLOIDOSIS, FINNISH TYPE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, AXENFELD-RIEGER SYNDROME, TYPE 1, OPSISMODYSPLASIA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CURRARINO SYNDROME, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, ALAGILLE SYNDROME 2, IVIC SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?RENAL HYPODYSPLASIA/APLASIA 2, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, LYMPHEDEMA, HEREDITARY, IA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?BARDET-BIEDL SYNDROME 11, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-9, NAIL-PATELLA SYNDROME, OCULOECTODERMAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL 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, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, SPERMATOGENIC FAILURE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ABLEPHARON-MACROSTOMIA SYNDROME, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, TUBEROUS SCLEROSIS-1, PARKINSON DISEASE 6, EARLY ONSET, EHLERS-DANLOS SYNDROME, TYPE IV, SPINOCEREBELLAR ATAXIA 17, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ALPORT SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPOPROTEIN LIPASE DEFICIENCY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, BARBER-SAY SYNDROME, OPITZ-KAVEGGIA SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, MACHADO-JOSEPH DISEASE, SECKEL SYNDROME 1, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, LUJAN-FRYNS SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, DIAPHANOSPONDYLODYSOSTOSIS, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, MYOTONIC DYSTROPHY 2, PALLISTER-HALL SYNDROME, 46,XX SEX REVERSAL, TYPE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, SPINOCEREBELLAR ATAXIA 42, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME

SLC34A1, TRIM32, F2, KIF5A, WNT5A, PDE4D, MED13L, MTOR, CNBP, ACTB, SEMA3E, CIITA, COL3A1, AP2S1, SEMA3A, ALPL, AGT, POR, PPARG, INSR, SOX2, OTX2, PRKAR1A, FLNA, EIF2B2, ITGA8, BTK, FGA, KMT2A, FGF17, FGF20, SLC2A2, SALL4, NF1, CLASP1, PKD1, CXCR4, HNF1B, DNM2, BMPER, PIK3CA, NOTCH1, BMP4, CDC73, TYROBP, SNAI2, TEK, DLL4, MYH3, NR5A1, ARHGDIA, COL2A1, SF3B4, AQP2, PTCH1, WNT7A, GRIP1, ITPR3, PLEC, ERBB3, GLI2, SCNN1G, VWF, SLC9A3R1, STUB1, FSHR, IGF2, GNAS, NOS3, HS6ST1, MAPT, CAD, CACNA1D, FGFR1, PRKACG, SCNN1A, HOXA13, COL1A2, HNRNPK, STAR, BMPR1A, CBL, LYZ, CCND1, ATP6V1B1, ZIC3, HNF4A, SOX9, VEGFC, SPRY2, GSC, FGF23, CREBBP, RPS6KA3, WAS, DUSP6, TBX1, PITX2, SOS2, MED12, CD44, ITGB3, CACNA1G, VHL, GJA1, ACE, TWIST2, SMAD4, TREM2, COL4A1, FLT4, SMAD9, PAX2, LMX1B, HLA-DRB1, YAP1, CASR, LEP, CTDP1, PCK1, PQBP1, COL4A4, TNFAIP3, BMP2, EDNRB, BRCA1, HFE2, FN1, KRAS, INPPL1, PRKDC, DVL1, NOTCH2, APOA1, MNX1, EGFR, SMARCA2, USP9X, MAP2K2, EZH2, GLI3, HTRA1, SNCA, JAG1, TINF2, PEX13, HNF1A, EFNB1, ATIC, PTEN, BMPR1B, FGFR3, MUSK, HAMP, GSN, SOX10, ITGA6, KIT, PTPRZ1, AGPAT2, AIP, NRAS, AR, DLG3, MYH11, KRT8, PRKCD, B2M, PINK1, PAX3, ATR, UBE2A, DHCR7, PIK3R2, TGFB1, PRNP, MED25, LPL, GATA6, ITGA2B, TBP, DTNBP1, MYH9, FGF10, ITGB4, SPRY4, TSC1, TCF4, PTPN11, PLG, SCN9A, SOS1, MYO1E, ATM, FGFR2, ACTN4, BRAF, COL4A3, CDKN1B, IL17RD, GATA4, COL4A5, RET, CTCF, HRAS, LRP2, ATXN3, GNRH1, OCLN, SMAD3, CYP7B1, NR3C1, HSPG2, ESR1, PIK3R1, KL, GATA2, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VON WILLEBRAND DISEASE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, GLANZMANN THROMBASTHENIA, BENIGN FAMILIAL HEMATURIA, RENAL ADYSPLASIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CALCIUM OXALATE UROLITHIASIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ALPORT SYNDROME

WNT7A, F2, ITGA8, COL4A4, VWF, TGFB1, NOS3, ITGB3, COL4A1, COL1A2, ITGA2B, FGA, LYZ, COL4A3, COL3A1, ITGA3, COL4A5, CD44, FN1, HSPG2, ITGA6, COL2A1, JAM3, ANXA5

IMAGE SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BECKWITH-WIEDEMANN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, IA, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, ALAGILLE SYNDROME, RENAL ADYSPLASIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4

TGFB2, ITGA8, ELN, SMAD4, FLT4, TGFB1, NOTCH1, ITGB3, AGT, BMP2, BMP4, FN1, FBLN5, CCND1, NR0B1, CDKN1C, COL1A2, LTBP4, EGFR, BMPER, SNAI2, JAG1, BMPR1B, EFEMP2

BARDET-BIEDL SYNDROME 10, RITSCHER-SCHINZEL SYNDROME 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALSTROM SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SENIOR-LOKEN SYNDROME 4, ?OROFACIODIGITAL SYNDROME XIV, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, SENIOR-LOKEN SYNDROME 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, MECKEL SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BARDET-BIEDL SYNDROME 6, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, SENIOR-LOKEN SYNDROME 8, BARDET-BIEDL SYNDROME 3, ?BARDET-BIEDL SYNDROME 19, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, SENIOR-LOKEN SYNDROME 5, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NEPHRONOPHTHISIS 2, INFANTILE, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, BARDET-BIEDL SYNDROME 16, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ATAXIA-TELANGIECTASIA, ?PERRAULT SYNDROME 2, NEPHRONOPHTHISIS 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, BARDET-BIEDL SYNDROME 7, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, MECKEL SYNDROME 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, JOUBERT SYNDROME 6, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ANDROGEN INSENSITIVITY, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PEUTZ-JEGHERS SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LOEYS-DIETZ SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?MECKEL SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, JOUBERT SYNDROME 5, JOUBERT SYNDROME 2, MECKEL SYNDROME 6, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MALOUF SYNDROME, JOUBERT SYNDROME 15, GALACTOSIALIDOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NEPHRONOPHTHISIS 13, SENIOR-LOKEN SYNDROME 9, JOUBERT SYNDROME 10, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CRANIOECTODERMAL DYSPLASIA 1, COACH SYNDROME, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, MECKEL SYNDROME 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEPHRONOPHTHISIS 3, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, SENIOR-LOKEN SYNDROME-1, ?BARDET-BIEDL SYNDROME 18, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MECKEL SYNDROME 7, BARDET-BIEDL SYNDROME 12, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NEPHRONOPHTHISIS 18, HYPOSPADIAS 1, X-LINKED, SECKEL SYNDROME 5, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, BARDET-BIEDL SYNDROME 8, RESTRICTIVE DERMOPATHY, LETHAL, ESTROGEN RESISTANCE, MECKEL SYNDROME 3, MYOTONIC DYSTROPHY 2, NICOLAIDES-BARAITSER SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, PERRAULT SYNDROME 5, JOUBERT SYNDROME 4, BARDET-BIEDL SYNDROME 13, NOONAN SYNDROME 9, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, JOUBERT SYNDROME 7, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, BARDET-BIEDL SYNDROME 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, JOUBERT SYNDROME-3, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JOUBERT SYNDROME 13, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, NEPHRONOPHTHISIS 15, BARAITSER-WINTER SYNDROME 1, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MCKUSICK-KAUFMAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BARDET-BIEDL SYNDROME 5, MECKEL SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BARDET-BIEDL SYNDROME 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MYHRE SYNDROME, OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, JOUBERT SYNDROME 18, NEPHRONOPHTHISIS 11, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, CRANIOECTODERMAL DYSPLASIA 3, BARDET-BIEDL SYNDROME 9, HERMANSKY-PUDLAK SYNDROME 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY

LMNA, TMEM216, KIF5A, PKD1, TCTN3, CNBP, CC2D2A, PIGT, GLI3, NPHP1, PPARG, AGTR1, BBS4, UBA1, NPHP4, RPGRIP1L, STK11, BBIP1, BBS1, PDE6D, TTC8, BBS2, SPAST, SMAD4, CREBBP, MKS1, GNAI2, DYNC2H1, SMARCA2, ACTB, ALMS1, PLEC, AR, MRPS22, CLUAP1, WDR60, BUB1B, BBS9, EDNRA, PRKAG2, NOS3, LEP, SDCCAG8, CEP152, B9D2, IKBKAP, C2CD3, CCDC22, MKKS, HSPD1, ARL6, RB1, IQCB1, IFT122, SOS2, BBS12, TRAF3IP1, TTC21B, INPP5E, CEP290, CTDP1, VHL, CEP164, TCTN1, BRCA1, BBS10, NPHP3, WDR35, DTNBP1, ETFA, NPHS1, POLG, HARS2, TCTN2, KISS1R, IFT140, HSPA9, WDR34, SLC9A3R1, LZTFL1, AGPAT2, AHI1, BBS5, DLG3, INVS, BBS7, CEP41, B9D1, MED25, ATM, IFT27, IFT43, EXOC8, IFT172, PCNT, ACTN4, WDR19, OFD1, CLASP1, HRAS, TMEM67, CTSA, SMAD3, ATR, ESR1, CEP83, C10orf2, ATIC

BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ENDOCRINE-CEREBROOSTEODYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PARKINSON DISEASE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS-1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, SOX2, ERBB3, TSC2, MAP2K2, BRAF, VWF, SMAD4, PTEN, NOTCH1, ACTB, UBE2A, ACTN4, IGF2, TGFB1, PIK3R2, NOS3, PPARG, RPS6KA3, HLA-DRB1, FGF10, SOS2, SPRY2, LEP, AGT, GJA1, SNCA, SPRY4, PRKAG2, TNFAIP3, INSR, FOXP3, PAX2, HNRNPK, MTOR, ITGA2B, PLEC, F2, SOS1, FGA, ESR1, CBL, STK11, FGF17, CCND1, FGF20, PRKCD, CDKN1B, IL17RD, BMP4, ICK, STRADA, STUB1, EZH2, FGFR3, PIK3CA, FN1, HRAS, EGFR, CDC73, KRAS, EFNB1, MUSK, FGF23, PAX3, NRAS, HSPG2, GSN, TEK, TSC1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, KRAS, EGFR, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, LEPRECHAUNISM, MAY-HEGGLIN ANOMALY, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CLOVE SYNDROME, SOMATIC, FECHTNER SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, WISKOTT-ALDRICH SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, SEBASTIAN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPSTEIN SYNDROME, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

HLA-DRB1, B2M, MYH9, CBL, WAS, PTEN, EGFR, NR3C1, HLA-DQB1, ESR1, PIK3R1, PIK3CA, BCL10, PIK3R2, PTPN11, INSR

BARAITSER-WINTER SYNDROME 1, PREMATURE OVARIAN FAILURE 7, STAR SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 23, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CHIME SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RENAL TUBULAR DYSGENESIS, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, BARDET-BIEDL SYNDROME 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEPATIC ADENOMA, SOMATIC, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, PETERS-PLUS SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, NEPHROTIC SYNDROME, TYPE 11, ATAXIA-TELANGIECTASIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HMG-COA LYASE DEFICIENCY, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ICHTHYOSIS, X-LINKED, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, C3 DEFICIENCY, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PITUITARY DEPENDENT HYPERCORTISOLISM, OVARIAN HYPERSTIMULATION SYNDROME, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, JOUBERT SYNDROME 5, DENYS-DRASH SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLANZMANN THROMBASTHENIA, PRADER-WILLI SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 11, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, HAY-WELLS SYNDROME, LADD SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {BUDD-CHIARI SYNDROME}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BJORNSTAD SYNDROME, 3-M SYNDROME 1, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, OCULOECTODERMAL SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 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, VISCERAL MYOPATHY, ALAGILLE SYNDROME, SPERMATOGENIC FAILURE 8, EHLERS-DANLOS SYNDROME, TYPE VIIC, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PERLMAN SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, 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}, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, MALOUF SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 1, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CORNELIA DE LANGE SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, NEPHROTIC SYNDROME, TYPE 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, 3MC SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ESTROGEN RESISTANCE, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, ?46XY SEX REVERSAL 5, NEPHROTIC SYNDROME, TYPE 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ANDROGEN INSENSITIVITY, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPERGLYCINURIA, CALCIUM OXALATE UROLITHIASIS, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, C4A DEFICIENCY, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

APOE, SEC23A, PARK7, KIF5A, TSC2, DNAJC19, TBCE, ACTB, GNAS, CIITA, CTSA, MUC1, RPS26, B3GLCT, AGT, PMM2, PPARG, LEP, AGTR1, NOTCH3, EIF2B2, REN, BTK, B2M, KISS1R, LHCGR, ALG1, WT1, ARSE, IKBKAP, FANCA, FAM58A, SOS1, PIGL, BMP4, CDC73, BBS2, MBTPS2, ARHGDIA, WFS1, GNE, GNAI2, CUL7, SF3B4, PTEN, ACE, EIF2B1, PRSS2, GP1BA, KRAS, ERBB3, FSHR, LZTR1, EIF2B4, AR, ACTN4, IGF2, F2, PIGT, NOS3, SPINT2, MAPT, LPIN1, MTOR, EDNRA, TAF6, LMNA, COL1A2, COPA, STAR, CBL, MAFB, CCND1, IFNG, C4A, ATP6V1B1, CD44, GALNT3, HSPD1, SLC6A19, NUP107, ADAMTS2, SPRY2, ACTA2, STS, RB1, FGF23, CREBBP, RPS6KA3, TP63, BRAF, RPL26, F7, EZH2, CFB, PIGR, DIS3L2, GLB1, GJA1, SSR4, SMAD4, COL4A1, VWF, SMAD9, C3, CEP290, FLNA, CASR, F5, VHL, BCS1L, ARL6, BMP2, FKBP14, BRCA1, NDN, FN1, PRKDC, EXT2, COQ2, HMGCL, DTNBP1, ATXN1, MASP1, BMPR1A, SEC63, COQ6, PGM3, ADAMTS13, PRKCD, NUP93, CDC6, JAG1, PIGO, HNF1A, ZBTB16, HSPA9, ARSA, VPS35, AQP2, XRCC4, HAMP, DPH1, SOX10, ITGA6, HRAS, EIF2B5, SERPINC1, ASXL1, DLG3, MYH11, KRT8, LHB, HNRNPK, ATR, PIGA, SLC17A5, PRKCSH, TGFB1, NR5A1, PTPN11, ATM, GATA4, TBP, CFTR, EIF2AK3, FGF10, PRLR, MT-CO2, INSR, NOTCH1, PLG, EIF2B3, BLM, FGFR2, PACS1, CBX2, CDKN1B, NEU1, FSHB, TRH, ATP5A1, DPAGT1, CTCF, APC, F10, EGFR, GNRH1, SMAD3, NR3C1, HSPG2, EXOC8, ESR1, ITGB3, PIK3R1, TINF2, HFE, PIGN, SHH

BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, WAARDENBURG SYNDROME, TYPE 1, APERT SYNDROME, TRIGONOCEPHALY 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?RENAL HYPODYSPLASIA/APLASIA 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

FGFR2, NRAS, FGFR1, FGF17, KRAS, LEP, FGF10, FGF23, SMAD4, FGFR3, PAX3, FGF20, ESR1, PIK3R1, SOX2, SOS1, PIK3CA, HRAS

BARAITSER-WINTER SYNDROME 1, GLUCOCORTICOID RESISTANCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS-1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

TSC2, F2, ACTB, GNAS, AGT, CD19, PRKAR1A, ITGA2B, GJA1, IL17RD, FGA, B2M, CLASP1, PIK3CA, BMP4, TEK, GNAI2, DYNC2H1, SF3B4, MUSK, ACE, FGFR3, KRAS, ERBB3, MAP2K2, IGF2, NOS3, MTOR, FGFR1, LEP, FGF17, CBL, PRKACG, CCND1, CD44, SPRY2, RB1, FGF23, RPS6KA3, DUSP6, BRAF, SOS2, ITGB3, UBE2A, SMAD4, PLEC, VWF, PAX2, HLA-DRB1, FOXP3, HRAS, FN1, KL, CFTR, APOA1, EZH2, SNCA, EFNB1, NF1, ITPR3, GSN, KIT, NRAS, DLG3, PRKCD, HNRNPK, PAX3, PIK3R2, TGFB1, PTPN11, TNFAIP3, FGF10, SPRY4, TSC1, INSR, NOTCH1, SOS1, FGFR2, ACTN4, CDKN1B, CTLA4, PTEN, FGF20, EGFR, NR3C1, HSPG2, ESR1, PIK3R1, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, BASAL CELL NEVUS SYNDROME, POLYCYSTIC LIVER DISEASE, OTOPALATODIGITAL SYNDROME, TYPE II, HOLOPROSENCEPHALY-9, HOLOPROSENCEPHALY-3, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, 46XY SEX REVERSAL 7, PAPILLORENAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, CULLER-JONES SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CLOVE SYNDROME, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HYPERPARATHYROIDISM, NEONATAL, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, ROBINOW SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, FRONTOMETAPHYSEAL DYSPLASIA, SERKAL SYNDROME

PTCH1, WNT7A, FLNA, WNT5A, DVL3, GNAS, WNT3, PAX2, PTH1R, LRP5, CASR, BMP2, OTX2, PIK3CA, BMP4, PTCH2, GNAI2, CCND1, DHH, GATA4, GLI3, PTEN, ROR2, EGFR, WNT4, GLI2, MAFB, PORCN, GSC, SHH

PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, HAY-WELLS SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

TSC2, FGF23, KL, ERBB3, NOTCH1, PIK3R2, TGFB1, PAX2, LEP, AGT, MTOR, FGFR1, ESR1, INSR, NOS3, FGF17, SOS1, FGFR2, FGF20, CDKN1B, BMP4, PTPN11, PIK3CA, HRAS, CD19, EGFR, PTEN, FGFR3, RPS6KA3, FGF10, TP63, SOS2, KIT, PIK3R1

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, OVARIAN HYPERSTIMULATION SYNDROME, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, PREMATURE OVARIAN FAILURE 7, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, 46XY SEX REVERSAL 3, OVARIAN DYSGENESIS 1, SPERMATOGENIC FAILURE 8

FSHR, CYP11B2, LHB, CYP21A2, MSMO1, NR5A1, HSD3B2

BARAITSER-WINTER SYNDROME 1, GLUCOCORTICOID RESISTANCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS-1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

TSC2, F2, ACTB, GNAS, AGT, CD19, PRKAR1A, ITGA2B, GJA1, IL17RD, FGA, B2M, CLASP1, PIK3CA, BMP4, TEK, GNAI2, DYNC2H1, SF3B4, MUSK, ACE, FGFR3, KRAS, ERBB3, MAP2K2, IGF2, NOS3, MTOR, FGFR1, LEP, FGF17, CBL, PRKACG, CCND1, CD44, SPRY2, RB1, FGF23, RPS6KA3, DUSP6, BRAF, SOS2, ITGB3, UBE2A, SMAD4, PLEC, VWF, PAX2, HLA-DRB1, FOXP3, HRAS, FN1, KL, CFTR, APOA1, EZH2, SNCA, EFNB1, NF1, ITPR3, GSN, KIT, NRAS, DLG3, PRKCD, HNRNPK, PAX3, PIK3R2, TGFB1, PTPN11, TNFAIP3, FGF10, SPRY4, TSC1, INSR, NOTCH1, SOS1, FGFR2, ACTN4, CDKN1B, CTLA4, PTEN, FGF20, EGFR, NR3C1, HSPG2, ESR1, PIK3R1, SHH

HARTSFIELD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LEOPARD SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LADD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, TRIGONOCEPHALY 1, OCULOECTODERMAL SYNDROME, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?RENAL HYPODYSPLASIA/APLASIA 2

NRAS, FGFR1, FGF10, FGFR3, KRAS, FGF23, FGF20, LEP, HRAS, FGF17, SOS1, PTPN11

PAPILLORENAL SYNDROME, BARAITSER-WINTER SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HARTSFIELD SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CLOVE SYNDROME, SOMATIC, OCULODENTODIGITAL DYSPLASIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, DLG3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, ACTN4, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, ITGB3, AGT, GJA1, SNCA, SPRY4, LEP, FGF23, TNFAIP3, INSR, PAX2, FGF17, FN1, KRAS, IL17RD, FGA, RPS6KA3, CBL, F2, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, ITGA2B, HNRNPK, EZH2, FGFR3, PIK3CA, SOS1, HRAS, EGFR, SPRY2, EFNB1, MUSK, ITPR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, OSTEOGLOPHONIC DYSPLASIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, CROUZON SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, APERT SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

FGFR3, GJA1, PRKCD, GNAS, FGF10, FGFR1, FGF23, PRKAR1A, FGF20, FGF17, SOS1, FGFR2, PRKACG, CFTR, APOA1, BMP4, HRAS, EGFR, SPRY2, ITPR3, HSPG2, ESR1, DUSP6, GNAI2

PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, HAY-WELLS SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

TSC2, FGF23, KL, ERBB3, NOTCH1, PIK3R2, TGFB1, PAX2, LEP, AGT, MTOR, FGFR1, ESR1, INSR, NOS3, FGF17, SOS1, FGFR2, FGF20, CDKN1B, BMP4, PTPN11, PIK3CA, HRAS, CD19, EGFR, PTEN, FGFR3, RPS6KA3, FGF10, TP63, SOS2, KIT, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, CROUZON SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, APERT SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, ?RENAL HYPODYSPLASIA/APLASIA 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA

FGFR2, EGFR, FGFR1, PRKACG, CFTR, FGFR3, GJA1, PRKCD, BMP4, FGF23, ITPR3, PRKAR1A, FGF20, FGF17, DUSP6, GNAS, SOS1, GNAI2

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, HAY-WELLS SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

TSC2, FGF23, KL, ERBB3, NOTCH1, PIK3R2, TGFB1, PAX2, LEP, AGT, MTOR, FGFR1, ESR1, INSR, NOS3, FGF17, SOS1, FGFR2, FGF20, CDKN1B, BMP4, PTPN11, PIK3CA, HRAS, CD19, EGFR, PTEN, FGFR3, RPS6KA3, FGF10, TP63, SOS2, KIT, PIK3R1

BARAITSER-WINTER SYNDROME 1, GLUCOCORTICOID RESISTANCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, 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, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS-1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

TSC2, F2, ACTB, GNAS, AGT, CD19, PRKAR1A, ITGA2B, GJA1, IL17RD, FGA, B2M, CLASP1, PIK3CA, BMP4, TEK, GNAI2, DYNC2H1, SF3B4, MUSK, ACE, FGFR3, KRAS, ERBB3, MAP2K2, IGF2, NOS3, MTOR, FGFR1, LEP, FGF17, CBL, PRKACG, CCND1, CD44, SPRY2, RB1, FGF23, RPS6KA3, WAS, DUSP6, BRAF, SOS2, ITGB3, UBE2A, SMAD4, PLEC, VWF, PAX2, HLA-DRB1, APC, FOXP3, HRAS, FN1, KL, CFTR, ATXN1, APOA1, EZH2, SNCA, EFNB1, NF1, ITPR3, GSN, KIT, NRAS, DLG3, PRKCD, HNRNPK, PAX3, PIK3R2, TGFB1, PTPN11, TNFAIP3, FGF10, SPRY4, ESR1, INSR, NOTCH1, SOS1, FGFR2, ACTN4, CDKN1B, CTLA4, PTEN, FGF20, EGFR, SMAD3, NR3C1, HSPG2, TSC1, PIK3R1, SHH

BARDET-BIEDL SYNDROME 10, NEPHRONOPHTHISIS 1, JUVENILE, ?PRUNE BELLY SYNDROME, BARDET-BIEDL SYNDROME 8, BARDET-BIEDL SYNDROME 5, BARDET-BIEDL SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NEPHRONOPHTHISIS 3, BARDET-BIEDL SYNDROME 7, MCKUSICK-KAUFMAN SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ?JOUBERT SYNDROME 22, SENIOR-LOKEN SYNDROME-1, ?BARDET-BIEDL SYNDROME 18, BARDET-BIEDL SYNDROME 2, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, NEPHROTIC SYNDROME, TYPE 1, BARDET-BIEDL SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, BARDET-BIEDL SYNDROME 12, MECKEL SYNDROME 7, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, BARDET-BIEDL SYNDROME 6, BARDET-BIEDL SYNDROME 17, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, BARDET-BIEDL SYNDROME 9, JOUBERT SYNDROME 4, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, PITUITARY ADENOMA, ACTH-SECRETING, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1

BBS5, BBS12, PKD1, BBIP1, BBS7, LZTFL1, NPHP1, KIF5A, EXOC8, BBS4, BBS10, HRAS, ETFA, NPHP3, BBS1, NPHS1, PDE6D, MKKS, TTC8, ARL6, BBS2, BBS9, INPP5E, SLC9A3R1, CHRM3, GNAI2

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NOONAN SYNDROME 8, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, WEAVER SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NOONAN SYNDROME 9, LEOPARD SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, HNRNPK, VWF, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, RIT1, NOS3, HSPG2, TNFAIP3, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, LEP, FGF23, PAX2, BMP4, FGF17, ITGA2B, FGF20, KRAS, IL17RD, SOS1, FGA, RPS6KA3, FGFR2, ACTN4, BRAF, CCND1, CBL, PRKCD, CDKN1B, HLA-DRB1, VHL, MAP2K2, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CENANI-LENZ SYNDACTYLY SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, HOLOPROSENCEPHALY-3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SMED STRUDWICK TYPE, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, GLANZMANN THROMBASTHENIA, ?OSTEOGENESIS IMPERFECTA, TYPE X, BENIGN FAMILIAL HEMATURIA, RENAL ADYSPLASIA, RENAL TUBULAR DYSGENESIS, CUTIS LAXA, AD, VESICOURETERAL REFLUX 8, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PCWH SYNDROME, PIERSON SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, WAARDENBURG SYNDROME, TYPE 4C, ALPORT SYNDROME

SOX9, ITGB3, ITGA8, WNT7A, ELN, SERPINH1, COL4A1, TGFB1, NOS3, TGFB2, AGT, VHL, COL4A4, BMP2, COL3A1, PLG, ITGA2B, LRP4, SOX10, FGA, COL4A3, COL4A5, LAMB2, COL1A2, FN1, BMP4, MUSK, COL2A1, TNXB, SHH

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

BARAITSER-WINTER SYNDROME 1, GLUCOCORTICOID RESISTANCE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, NEPHROTIC SYNDROME, TYPE 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, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NASU-HAKOLA DISEASE, TUBEROUS SCLEROSIS-1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LYMPHEDEMA, HEREDITARY, ID, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

TSC2, F2, ACTB, GNAS, CIITA, AGT, CD19, PRKAR1A, ITGA2B, GJA1, BTK, FGA, B2M, CLASP1, PIK3CA, BMP4, TYROBP, TEK, GNAI2, DYNC2H1, SF3B4, MUSK, ACE, FGFR3, KRAS, ERBB3, MAP2K2, AR, IGF2, NOS3, MTOR, FGFR1, LEP, FGF17, CBL, PRKACG, CCND1, CD44, VEGFC, SPRY2, RB1, FGF23, RPS6KA3, WAS, DUSP6, BRAF, SOS2, ITGB3, UBE2A, SMAD4, TREM2, PLEC, VWF, PAX2, HLA-DRB1, FOXP3, HRAS, FN1, KL, CFTR, APOA1, NPHS1, EZH2, SNCA, EFNB1, NF1, ITPR3, GSN, IL17RD, KIT, NRAS, DLG3, PRKCD, HNRNPK, PAX3, PIK3R2, TGFB1, PTPN11, TNFAIP3, FGF10, SPRY4, TSC1, INSR, NOTCH1, SOS1, FGFR2, ACTN4, CDKN1B, CTLA4, PTEN, FGF20, EGFR, NR3C1, HSPG2, ESR1, PIK3R1, SHH

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LADD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, OCULOECTODERMAL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?RENAL HYPODYSPLASIA/APLASIA 2

NRAS, FGF10, FGFR3, KRAS, FGF23, FGF20, FGF17, SOS1, HRAS

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ALPORT SYNDROME, HOLOPROSENCEPHALY-3, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, MAY-HEGGLIN ANOMALY, SHORT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, PARKINSON DISEASE 1, GLANZMANN THROMBASTHENIA, BENIGN FAMILIAL HEMATURIA, LOEYS-DIETZ SYNDROME 3, FECHTNER SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, NEPHROTIC SYNDROME, TYPE 12, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SEBASTIAN SYNDROME, EPSTEIN SYNDROME, PCWH SYNDROME, PIERSON SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, WAARDENBURG SYNDROME, TYPE 4C, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

TTR, ITGB3, SHH, COL4A1, ITGB4, COL3A1, MYH9, TGFB1, VHL, COL4A4, PTPN11, FN1, SOX10, FGA, ITGA6, COL4A3, COL4A5, LAMB2, NUP93, SNCA, COL1A2, EGFR, SMAD3, HSPG2, ANXA5, COL2A1, PIK3R1

GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, 46,XX SEX REVERSAL, TYPE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, ?OSTEOGENESIS IMPERFECTA, TYPE X, BENIGN FAMILIAL HEMATURIA, BRUCK SYNDROME 2, EHLERS-DANLOS SYNDROME, TYPE VIIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CALCIUM OXALATE UROLITHIASIS, OSTEOGENESIS IMPERFECTA, TYPE VII, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PCWH SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, WAARDENBURG SYNDROME, TYPE 4C, ALPORT SYNDROME

SOX9, COL4A1, CIITA, COL1A2, CRTAP, TGFB1, COL4A4, BMP2, COL3A1, FN1, SOX10, PLOD1, B2M, ITGA6, COL4A3, COL4A5, PLOD2, CD44, SERPINH1, ADAMTS2, BMP4, COL2A1, PIK3R1

PAPILLORENAL SYNDROME, BARAITSER-WINTER SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, LEOPARD SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, WEAVER SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CLOVE SYNDROME, SOMATIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ESTROGEN RESISTANCE, CARDIOFACIOCUTANEOUS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYHRE SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OPSISMODYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NOONAN SYNDROME 9, AU-KLINE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, PLEC, CD44, ITGB3, FGFR1, KRAS, ERBB3, NRAS, MAP2K2, VWF, SMAD4, NOTCH1, ACTB, UBE2A, PIK3R2, TGFB1, IGF2, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, MTOR, SNCA, SPRY4, LEP, FGF23, TNFAIP3, PAX2, BMP4, FGF17, ITGA2B, GJA1, INPPL1, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, IL17RD, NF1, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, RB1, PIK3R1

BARAITSER-WINTER SYNDROME 1, GLUCOCORTICOID RESISTANCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FANCONI RENOTUBULAR SYNDROME 2, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS-1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

SLC34A1, F2, TSC2, ACTB, GNAS, AGT, CD19, PRKAR1A, ITGA2B, GJA1, IL17RD, FGA, B2M, CLASP1, PIK3CA, BMP4, TEK, USP8, GNAI2, DYNC2H1, SF3B4, MUSK, ACE, FGFR3, KRAS, ERBB3, MAP2K2, IGF2, NOS3, MTOR, FGFR1, LEP, FGF17, CBL, PRKACG, CCND1, CD44, SPRY2, RB1, FGF23, RPS6KA3, DUSP6, BRAF, SOS2, ITGB3, UBE2A, SMAD4, PLEC, VWF, PAX2, HLA-DRB1, VHL, FOXP3, HRAS, FN1, KL, CFTR, APOA1, HNRNPK, EZH2, SNCA, EFNB1, NF1, ITPR3, GSN, KIT, NRAS, DLG3, PRKCD, STUB1, PAX3, PIK3R2, TGFB1, PTPN11, TNFAIP3, FGF10, ITGB4, SPRY4, ESR1, INSR, NOTCH1, SOS1, FGFR2, ACTN4, CDKN1B, CTLA4, PTEN, FGF20, EGFR, NR3C1, HSPG2, TSC1, PIK3R1, SHH

JOUBERT SYNDROME 10, NEPHRONOPHTHISIS 1, JUVENILE, JOUBERT SYNDROME 7, COACH SYNDROME, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, NEPHRONOPHTHISIS 4, JOUBERT SYNDROME 5, ALSTROM SYNDROME, MECKEL SYNDROME 5, MECKEL SYNDROME 10, SENIOR-LOKEN SYNDROME-1, SENIOR-LOKEN SYNDROME 4, JOUBERT SYNDROME 6, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SENIOR-LOKEN SYNDROME 6, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MECKEL SYNDROME 1, NEPHRONOPHTHISIS 18, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SECKEL SYNDROME 5, OROFACIODIGITAL SYNDROME I, MECKEL SYNDROME 2, ?MECKEL SYNDROME 9, MECKEL SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, JOUBERT SYNDROME 18, JOUBERT SYNDROME 2, MECKEL SYNDROME 3, NEPHRONOPHTHISIS 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?OROFACIODIGITAL SYNDROME XIV, MECKEL SYNDROME 6, ?MECKEL SYNDROME 8, JOUBERT SYNDROME 4, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SENIOR-LOKEN SYNDROME 5, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, JOUBERT SYNDROME 15, JOUBERT SYNDROME 13, NEPHRONOPHTHISIS 2, INFANTILE, BARAITSER-WINTER SYNDROME 1, JOUBERT SYNDROME-3, BARDET-BIEDL SYNDROME 16, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, BARDET-BIEDL SYNDROME 13

ACTB, TMEM216, INVS, TCTN3, MKS1, CC2D2A, CEP41, CLASP1, NPHP1, SDCCAG8, CEP152, CEP164, TCTN1, CEP290, NPHP4, RPGRIP1L, B9D1, B9D2, CFTR, C2CD3, OFD1, TCTN2, PCNT, TMEM67, PEX5, ALMS1, IQCB1, AHI1, CEP83

BARAITSER-WINTER SYNDROME 1, GLUCOCORTICOID RESISTANCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 3, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OVARIAN HYPERSTIMULATION SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, 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, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS-1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

TSC2, F2, ACTB, GNAS, AP2S1, AGT, CD19, PRKAR1A, ITGA2B, GJA1, IL17RD, FGA, B2M, CLASP1, DNM2, PIK3CA, BMP4, TEK, GNAI2, DYNC2H1, SF3B4, MUSK, ACE, FGFR3, KRAS, ERBB3, FSHR, MAP2K2, IGF2, NOS3, MTOR, FGFR1, LEP, FGF17, CBL, PRKACG, CCND1, CD44, SPRY2, RB1, FGF23, RPS6KA3, WAS, DUSP6, BRAF, SOS2, ITGB3, UBE2A, SMAD4, PLEC, VWF, PAX2, HLA-DRB1, FLNA, APC, VHL, FOXP3, HRAS, FN1, KL, CFTR, ATXN1, APOA1, EZH2, SNCA, EFNB1, NF1, ITPR3, GSN, KIT, COL2A1, NRAS, DLG3, PRKCD, HNRNPK, PAX3, PIK3R2, TGFB1, PTPN11, TNFAIP3, FGF10, SPRY4, ESR1, INSR, NOTCH1, SOS1, FGFR2, ACTN4, CDKN1B, RIT1, CTLA4, PTEN, FGF20, EGFR, GNRH1, SMAD3, NR3C1, HSPG2, TSC1, PIK3R1, SHH

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, WEAVER SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, ESTROGEN RESISTANCE, CARDIOFACIOCUTANEOUS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYHRE SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NOONAN SYNDROME 9, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, DESMOID DISEASE, HEREDITARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, FGFR3, PIK3CA, APC, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, SMAD3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

BARAITSER-WINTER SYNDROME 1, GLUCOCORTICOID RESISTANCE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, PITUITARY ADENOMA, ACTH-SECRETING, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PARKINSON DISEASE 1, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, TUBEROUS SCLEROSIS-1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME

TSC2, F2, ACTB, GNAS, AGT, CD19, PRKAR1A, ITGA2B, GJA1, IL17RD, FGA, B2M, CLASP1, PIK3CA, BMP4, TEK, CREBBP, GNAI2, DYNC2H1, SF3B4, MUSK, ACE, FGFR3, KRAS, ERBB3, MAP2K2, IGF2, NOS3, MTOR, FGFR1, LEP, FGF17, CBL, PRKACG, CCND1, CD44, SPRY2, FANCA, RB1, FGF23, RPS6KA3, DUSP6, BRAF, SOS2, ITGB3, UBE2A, SMAD4, PLEC, VWF, PAX2, HLA-DRB1, FOXP3, HRAS, FN1, KL, CFTR, APOA1, EZH2, SNCA, EFNB1, NF1, ITPR3, GSN, KIT, NRAS, DLG3, PRKCD, HNRNPK, PAX3, PIK3R2, TGFB1, PTPN11, TNFAIP3, FGF10, SPRY4, TSC1, INSR, NOTCH1, SOS1, FGFR2, ACTN4, CDKN1B, CTLA4, PTEN, FGF20, EGFR, ATXN3, NR3C1, HSPG2, ESR1, PIK3R1, SHH

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, BARAITSER-WINTER SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 9, WEAVER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ESTROGEN RESISTANCE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEOPARD SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TRIGONOCEPHALY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYHRE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, ERBB3, NRAS, MAP2K2, SMAD4, NOTCH1, ACTB, UBE2A, IGF2, TGFB1, VWF, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, GJA1, SNCA, SPRY4, FGF23, TNFAIP3, LEP, PAX2, FGF17, ITGA2B, KRAS, IL17RD, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, BMP4, HNRNPK, EZH2, PIK3CA, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, FGFR3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, NF1, PIK3R1

PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LADD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, HAY-WELLS SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

TSC2, FGF23, KL, ERBB3, NOTCH1, PIK3R2, TGFB1, PAX2, LEP, AGT, MTOR, FGFR1, ESR1, INSR, NOS3, FGF17, SOS1, FGFR2, FGF20, CDKN1B, BMP4, PTPN11, PIK3CA, HRAS, CD19, EGFR, PTEN, FGFR3, RPS6KA3, FGF10, TP63, SOS2, KIT, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, BENT BONE DYSPLASIA SYNDROME, CROUZON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, APERT SYNDROME, TRIGONOCEPHALY 1, LEOPARD SYNDROME 1, ?RENAL HYPODYSPLASIA/APLASIA 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CBL, FGFR1, SPRY2, FGF17, FGF10, FGF23, FGFR3, FGFR2, LEP, DUSP6, PTPN11, BRAF, FGF20, NOTCH1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, GM1-GANGLIOSIDOSIS, TYPE I, FRUCTOSE INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, DONNAI-BARROW SYNDROME, PREMATURE OVARIAN FAILURE 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, MYHRE SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OVARIAN HYPERSTIMULATION SYNDROME, HYPERCALCEMIA, INFANTILE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, OVARIAN DYSGENESIS 1, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LATHOSTEROLOSIS, PERRAULT SYNDROME 5, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPERMATOGENIC FAILURE 8, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, 5-OXOPROLINASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 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, ICHTHYOSIS, X-LINKED, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS

ALDOB, GLB1, OPLAH, FSHR, SMAD4, NR5A1, SC5D, VWF, GATA4, CYP11B2, CASR, MT-CO2, LEP, MMACHC, INPPL1, CBL, MUT, APOA1, NR0B1, CYP11B1, LRP2, NEU1, MT-CYB, SI, POR, STS, CYP21A2, CYP7B1, CYP24A1, STAMBP, IDUA, C10orf2, CYP17A1, PC

BEARE-STEVENSON CUTIS GYRATA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, PEUTZ-JEGHERS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CROUZON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ?RENAL HYPODYSPLASIA/APLASIA 2, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, TUBEROUS SCLEROSIS 2, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, TUBEROUS SCLEROSIS-1, RENAL TUBULAR DYSGENESIS, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

TSC2, FGF23, SOX2, ERBB3, STUB1, PIK3R2, PTPN11, LEP, AGT, MTOR, FGFR1, TSC1, INSR, NOTCH1, FGF17, KL, FGFR2, STK11, FGF20, STRADA, PIK3CA, HRAS, CDC73, PTEN, FGFR3, RPS6KA3, FGF10, PRKAG2, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, BARAITSER-WINTER SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, 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, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RENAL TUBULAR DYSGENESIS, ALAGILLE SYNDROME 2, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, HEMOCHROMATOSIS, TYPE 2A, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PAROXYSMAL EXTREME PAIN DISORDER, ALPORT SYNDROME, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, HAJDU-CHENEY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, FANCONI RENOTUBULAR SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEPHROTIC SYNDROME, TYPE 8, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, AXENFELD-RIEGER SYNDROME, TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ALPORT SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, NICOLAIDES-BARAITSER SYNDROME, CALCIUM OXALATE UROLITHIASIS, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, NASU-HAKOLA DISEASE, EHLERS-DANLOS SYNDROME, TYPE IV, SPINOCEREBELLAR ATAXIA 17, ROBINOW SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, MAY-HEGGLIN ANOMALY, SECKEL SYNDROME 1, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, 46,XX SEX REVERSAL, TYPE 2, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, SPINOCEREBELLAR ATAXIA 42, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AU-KLINE SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

SLC34A1, F2, WNT5A, PDE4D, PKD1, ACTB, SEMA3E, CIITA, COL3A1, AP2S1, ATP6V1B2, AGT, OTX2, EIF2B2, GJA1, BTK, FGA, B2M, MYO1E, NF1, COL4A5, DNM2, PIK3CA, ITGA8, BMP4, JAG1, TYROBP, TEK, DLL4, ARHGDIA, COL2A1, SF3B4, MUSK, PTCH1, ACE, FGFR3, PLEC, ERBB3, COPA, SCNN1G, AR, IGF2, VWF, NOS3, CCND1, MAPT, CAD, CACNA1D, FGFR1, SCNN1A, LEP, COL1A2, FGF17, STAR, PLOD1, CBL, HS6ST1, SOX9, VEGFC, SPRY2, FGF23, RPS6KA3, WAS, DUSP6, BRAF, SOS2, CD44, ITGB3, CACNA1G, HFE2, UBE2A, WNT7A, SMAD4, TREM2, COL4A1, FLT4, PAX2, HLA-DRB1, FLNA, CASR, PITX2, VHL, COL4A4, BMP2, HRAS, FN1, KRAS, AIP, DTNBP1, BMPR1A, EGFR, NOTCH2, USP9X, MAP2K2, EZH2, AQP2, SNCA, PEX13, EFNB1, PTEN, ITPR3, SLC9A3R1, GSN, IL17RD, KIT, PTPRZ1, NRAS, DLG3, HTRA1, SEMA3A, PRKCD, HNRNPK, PAX3, BMPR1B, PRNP, TGFB1, PIK3R2, PTPN11, CXCR4, GATA4, ITGA2B, TBP, MYH9, FGF10, ITGB4, SPRY4, INSR, NOTCH1, SMARCA2, SCN9A, SOS1, FGFR2, ACTN4, TINF2, COL4A3, CDKN1B, TNFAIP3, CLASP1, RET, FGF20, LRP2, MYH11, ATR, HSPG2, ESR1, PIK3R1, KL, SOX10, MTOR, SHH

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), TUBEROUS SCLEROSIS 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FACTOR X DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, FACTOR VII DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, {BUDD-CHIARI SYNDROME}, OTOPALATODIGITAL SYNDROME, TYPE II, VON WILLEBRAND DISEASE, TYPE 1, FRONTOMETAPHYSEAL DYSPLASIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MELNICK-NEEDLES SYNDROME

FGA, GP1BB, SERPINC1, F7, F2, FLNA, GP9, B2M, THBD, GP1BA, F5, PLG, VWF, FN1, F10

BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {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, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, APERT SYNDROME, TRIGONOCEPHALY 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, FGFR1, FGF10, FGF23, KRAS, FGFR3, FGFR2, FGF20, PIK3R1, FGF17, SOS1, PIK3CA, HRAS

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, TRIGONOCEPHALY 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?RENAL HYPODYSPLASIA/APLASIA 2, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 2, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PREMATURE OVARIAN FAILURE 7, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, JOUBERT SYNDROME 5, OVARIAN HYPERSTIMULATION SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MECKEL SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, SPERMATOGENIC FAILURE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, NOONAN SYNDROME 9, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, PIEBALDISM, DIABETES INSIPIDUS, NEPHROGENIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ABCD SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, PALLISTER-HALL SYNDROME, LIPOID ADRENAL HYPERPLASIA, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME

SLC34A1, GPI, F2, FGFR1, WNT5A, PDE4D, KISS1, ACTB, GNAS, AGT, AGTR1, ITGA2B, UBE2A, IL17RD, FGA, KISS1R, PGR, NF1, PROK2, PIK3CA, BMP4, TEK, EIF2B4, GNAI2, SF3B4, MUSK, ACE, FGFR3, KRAS, ERBB3, FSHR, MAP2K2, AR, IGF2, NOS3, GNRHR, MTOR, EDNRA, LEP, CEP290, FGF17, STAR, CBL, CCND1, IFNG, ICK, KIT, CD44, NR5A1, SPRY2, FANCA, RB1, FGF23, PROKR2, RPS6KA3, DUSP6, BRAF, SOS2, ITGB3, GNA11, GJA1, SMAD4, PLEC, VWF, PAX2, HLA-DRB1, FLNA, CASR, PCK1, VHL, FGF20, FN1, KL, CFTR, PARK2, EZH2, GLI3, EIF2B2, SNCA, EFNB1, PTEN, ITPR3, SLC9A3R1, GSN, CHRM3, HRAS, TAC3, NRAS, DLG3, PRKCD, HNRNPK, PAX3, EIF2B1, AQP2, PRKCSH, TGFB1, PIK3R2, PTPN11, TNFAIP3, TACR3, FGF10, SPRY4, NOTCH1, SOS1, FGFR2, ACTN4, CDKN1B, TRH, DGKE, EDNRB, EGFR, GNRH1, SMAD3, HSPG2, ESR1, PIK3R1, SHH

HARTSFIELD SYNDROME, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {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, CLOVE SYNDROME, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, TRIGONOCEPHALY 1, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, ?RENAL HYPODYSPLASIA/APLASIA 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

EGFR, FGFR1, FGF10, FGF23, KRAS, FGFR3, NRAS, FGF20, PIK3R1, FGF17, SOS1, PIK3CA, HRAS

HARTSFIELD SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, OSTEOGLOPHONIC DYSPLASIA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, LADD SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, TRIGONOCEPHALY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1)

FGFR1, FGF23, FGF10, ANOS1, KL, FGFR3, FGF17, TGFB1, FGF20

PAPILLORENAL SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BARAITSER-WINTER SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, WEAVER SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, LEOPARD SYNDROME 1, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, PIEBALDISM, CROUZON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, TRIGONOCEPHALY 1, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CRANIOFRONTONASAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, GLANZMANN THROMBASTHENIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, CLOVE SYNDROME, SOMATIC, ESTROGEN RESISTANCE, CARDIOFACIOCUTANEOUS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYHRE SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, WAARDENBURG SYNDROME, TYPE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NOONAN SYNDROME 9, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, AU-KLINE SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?RENAL HYPODYSPLASIA/APLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OPSISMODYSPLASIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, DESMOID DISEASE, HEREDITARY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, COFFIN-LOWRY SYNDROME

FGFR2, ACE, CD44, ITGB3, FGFR1, PLEC, GJA1, ERBB3, NRAS, MAP2K2, VWF, SMAD4, NOTCH1, ACTB, UBE2A, PIK3R2, TGFB1, IGF2, NOS3, HSPG2, HLA-DRB1, FGF10, SOS2, F2, AGT, MTOR, SNCA, SPRY4, LEP, FGF23, TNFAIP3, PAX2, BMP4, FGF17, ITGA2B, KRAS, INPPL1, SOS1, FGA, RPS6KA3, CBL, ACTN4, BRAF, CCND1, FGF20, PRKCD, CDKN1B, IL17RD, NF1, HNRNPK, EZH2, FGFR3, PIK3CA, APC, FN1, HRAS, EGFR, SPRY2, EFNB1, MUSK, SMAD3, PAX3, GSN, TEK, ESR1, DUSP6, SHH, KL, PTPN11, KIT, SF3B4, RB1, PIK3R1