ABNORMALITY OF THE GENITOURINARY SYSTEM, HP:0000119

Associated diseases: MULLERIAN APLASIA AND HYPERANDROGENISM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, VERHEIJ SYNDROME, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, FACTOR V DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, OTOPALATODIGITAL SYNDROME, TYPE II, SECKEL SYNDROME 2, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, 46XY SEX REVERSAL 9, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, LUJAN-FRYNS SYNDROME, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, HERMANSKY-PUDLAK SYNDROME 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, ACRODERMATITIS ENTEROPATHICA, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, CARASIL SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, X-LINKED, DYSAUTONOMIA, FAMILIAL, ABLEPHARON-MACROSTOMIA SYNDROME, MOLYBDENUM COFACTOR DEFICIENCY A, SICKLE CELL ANEMIA, SPERMATOGENIC FAILURE 5, MACULAR DYSTROPHY, NORTH CAROLINA TYPE, BOUCHER-NEUHAUSER SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?PROGESTERONE RESISTANCE, GRACILE BONE DYSPLASIA, ?UROCANASE DEFICIENCY, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA, AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, POLYCYSTIC KIDNEY DISEASE 2, ?MECKEL SYNDROME 9, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, FILIPPI SYNDROME, RENAL TUBULAR DYSGENESIS, CATEL-MANZKE SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, AROMATASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ARTHROGRYPOSIS, DISTAL, TYPE 3, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HPRT-RELATED GOUT, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE, PERRAULT SYNDROME 1, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, SPERMATOGENIC FAILURE 10, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, HYPOURICEMIA, RENAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, MEDULLARY CYSTIC KIDNEY DISEASE 2, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, SECKEL SYNDROME 7, MUCOPOLYSACCHARIDOSIS II, ?MARDEN-WALKER SYNDROME, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ROTHMUND-THOMSON SYNDROME, BENIGN FAMILIAL HEMATURIA, NIJMEGEN BREAKAGE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FANCONI-BICKEL SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, FAMILIAL COLORECTAL CANCER, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, POLYCYSTIC LIVER DISEASE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, FLOATING-HARBOR SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, GUTTMACHER SYNDROME, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), COWDEN SYNDROME 6, ACROMELIC FRONTONASAL DYSOSTOSIS, JOUBERT SYNDROME 15, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PITUITARY HORMONE DEFICIENCY, COMBINED, 2, MECKEL SYNDROME 3, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, IMINOGLYCINURIA, DIGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TYROSINEMIA, TYPE I, ?TESTICULAR MICROLITHIASIS, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ?JOUBERT SYNDROME 22, HYPERLYSINEMIA, TRICHOHEPATOENTERIC SYNDROME 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, HOLOPROSENCEPHALY-9, HAY-WELLS SYNDROME, GLYCOGEN STORAGE DISEASE IA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?WEBB-DATTANI SYNDROME, ?PREMATURE OVARIAN FAILURE 10, CYSTINURIA, WARBURG MICRO SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, NEPHRONOPHTHISIS 18, HYPOSPADIAS 1, X-LINKED, ?MECKEL SYNDROME 12, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, MUCOPOLYSACCHARIDOSIS VII, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, ASPARTYLGLUCOSAMINURIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, OLIVER-MCFARLANE SYNDROME, GLYCOGEN STORAGE DISEASE IC, NICOLAIDES-BARAITSER SYNDROME, D-GLYCERIC ACIDURIA, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, OOCYTE MATURATION DEFECT 1, BARDET-BIEDL SYNDROME 17, NEPHRONOPHTHISIS 19, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CILIARY DYSKINESIA, PRIMARY, 14, CRANIOLENTICULOSUTURAL DYSPLASIA, COMBINED MALONIC AND METHYLMALONIC ACIDURIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OGDEN SYNDROME, HYPERPROLINEMIA, TYPE II, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, WRINKLY SKIN SYNDROME, PARKINSON DISEASE 6, EARLY ONSET, FRAGILE X SYNDROME, COCOON SYNDROME, LEBER CONGENITAL AMAUROSIS 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, COWDEN SYNDROME 3, BARBER-SAY SYNDROME, WERNER SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, TRANSCOBALAMIN II DEFICIENCY, DICARBOXYLIC AMINOACIDURIA, SMITH-MAGENIS SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, NORUM DISEASE, CPT DEFICIENCY, HEPATIC, TYPE IA, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, KANZAKI DISEASE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SACCHAROPINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, LATERAL MENINGOCELE SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, OVARIAN DYSGENESIS 4, VESICOURETERAL REFLUX 2, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MEIER-GORLIN SYNDROME 3, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT, PREMATURE OVARIAN FAILURE 7, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, MICROPHTHALMIA, ISOLATED 4, OSTEOLYSIS, FAMILIAL EXPANSILE, ?SPERMATOGENIC FAILURE 14, OROFACIODIGITAL SYNDROME VI, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, CURRARINO SYNDROME, {END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO}, {GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 4, SUSCEPTIBILITY TO}, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, 46,XX SEX REVERSAL, TYPE 2, ARTHROGRYPOSIS, DISTAL, TYPE 5D, DENT DISEASE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, GLUTARIC ACIDURIA III, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4, NEPHRONOPHTHISIS 13, MAY-HEGGLIN ANOMALY, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, TURNER TYPE, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, 46XY PARTIAL GONADAL DYSGENESIS, WITH MINIFASCICULAR NEUROPATHY, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, NEPHRONOPHTHISIS 7, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, RENAL GLUCOSURIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS 1, JUVENILE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, {WILMS TUMOR SUSCEPTIBILITY-5}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 25, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ATELOSTEOGENESIS, TYPE I, SENIOR-LOKEN SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, D-2-HYDROXYGLUTARIC ACIDURIA, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, SILVER-RUSSELL SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, MELNICK-NEEDLES SYNDROME, NEPHROLITHIASIS, TYPE I, PREMATURE OVARIAN FAILURE 3, MECKEL SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BORJESON-FORSSMAN-LEHMANN SYNDROME, MACHADO-JOSEPH DISEASE, PREGNANCY LOSS, RECURRENT, 4, SPERMATOGENIC FAILURE 4, DEAFNESS, AUTOSOMAL DOMINANT 23, MEIER-GORLIN SYNDROME 1, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, NATIVE AMERICAN MYOPATHY, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PERRAULT SYNDROME 4, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, HYPERPROLINEMIA, TYPE I, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, LARON DWARFISM, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, ?MECKEL SYNDROME 8, JOUBERT SYNDROME 20, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DUANE-RADIAL RAY SYNDROME, MULIBREY NANISM, PERRAULT SYNDROME 5, PIERSON SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, SESAME SYNDROME, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, ?NEPHRONOPHTHISIS 9, ATAXIA-TELANGIECTASIA, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, RAINE SYNDROME, CENANI-LENZ SYNDACTYLY SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, OMODYSPLASIA 1, MECKEL SYNDROME 11, C SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL DOMINANT 3, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ?ABRUZZO-ERICKSON SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, SHWACHMAN-DIAMOND SYNDROME, SPERMATOGENIC FAILURE 11, SOTOS SYNDROME 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NOONAN SYNDROME 9, NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PREMATURE OVARIAN FAILURE 4, OVARIAN DYSGENESIS 2, OCCIPITAL HORN SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, DENYS-DRASH SYNDROME, ?CAUDAL DUPLICATION ANOMALY, FANCONI ANEMIA, COMPLEMENTATION GROUP O, MARTSOLF SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CARPENTER SYNDROME 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CAUDAL REGRESSION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, AMYLOIDOSIS, FINNISH TYPE, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 1, MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, MALOUF SYNDROME, RENAL CELL CARCINOMA, PAPILLARY, 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), RABSON-MENDENHALL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, JOHANSON-BLIZZARD SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CILIARY DYSKINESIA, PRIMARY, 12, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, COACH SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE II, UROFACIAL SYNDROME 1, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, LEIOMYOMATOSIS AND RENAL CELL CANCER, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, CRYPTORCHIDISM, FRUCTOSE INTOLERANCE, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MECKEL SYNDROME 1, SPINOCEREBELLAR ATAXIA 1, PARAGANGLIOMAS 4, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, KINDLER SYNDROME, NOONAN SYNDROME 10, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, OBESITY, MORBID, DUE TO LEPTIN RECEPTOR DEFICIENCY, GLYCEROL KINASE DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CHIME SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, D-2-HYDROXYGLUTARIC ACIDURIA 2, MEND SYNDROME, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, 46XY SEX REVERSAL 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, IMMUNODEFICIENCY 23, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, OSTEOGENESIS IMPERFECTA, TYPE VII, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MICROPHTHALMIA, SYNDROMIC 2, DOOR SYNDROME, GLYCOGEN STORAGE DISEASE VII, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, NEU-LAXOVA SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, BIOTINIDASE DEFICIENCY, ROBINOW SYNDROME, MYOTONIC DYSTROPHY 1, CHOPS SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, HYPEROXALURIA, PRIMARY, TYPE III, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ICHTHYOSIS, X-LINKED, RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, POLYGLUCOSAN BODY DISEASE, ADULT FORM, C1Q DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, [HISTIDINEMIA], HOLOPROSENCEPHALY-3, BARDET-BIEDL SYNDROME 5, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, OVARIAN DYSGENESIS 3, LARSEN SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CILIARY DYSKINESIA, PRIMARY, 26, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ESCOBAR SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, BRANCHIOOCULOFACIAL SYNDROME, NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), JOUBERT SYNDROME 5, LESCH-NYHAN SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, ULNAR-MAMMARY SYNDROME, OLIGOSYNAPTIC INFERTILITY, 3MC SYNDROME 1, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ENDOMETRIAL CANCER, FAMILIAL, {ENDOMETRIAL CANCER, SUSCEPTIBILITY TO}, ENDOMETRIAL CARCINOMA, SOMATIC, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, TYROSINEMIA, TYPE II, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEPHRONOPHTHISIS 11, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, ?HYDROXYKYNURENINURIA, VAN MALDERGEM SYNDROME 2, JOUBERT SYNDROME 6, SENIOR-LOKEN SYNDROME 9, FUHRMANN SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE X, HYDATIDIFORM MOLE, RECURRENT, 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HYPOPHOSPHATASIA, INFANTILE, GRACILE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, CPT II DEFICIENCY, LETHAL NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS, TYPE 3, CILIARY DYSKINESIA, PRIMARY, 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, BARDET-BIEDL SYNDROME 10, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, BARAITSER-WINTER SYNDROME 1, CILIARY DYSKINESIA, PRIMARY, 13, PROSTATE CANCER 1, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, LATHOSTEROLOSIS, CILIARY DYSKINESIA, PRIMARY, 22, DIAMOND-BLACKFAN ANEMIA 5, NEPHROTIC SYNDROME, TYPE 9, WILSON DISEASE, SENIOR-LOKEN SYNDROME 4, BROWN-VIALETTO-VAN LAERE SYNDROME 2, RENAL HYPODYSPLASIA, NONSYNDROMIC, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, COCKAYNE SYNDROME, TYPE B, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), POPLITEAL PTERYGIUM SYNDROME 1, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, WILMS TUMOR 2, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CUTANEOUS MALIGNANT MELANOMA 8, FANCONI ANEMIA, COMPLEMENTATION GROUP E, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, WARBURG MICRO SYNDROME 2, MORBID OBESITY AND SPERMATOGENIC FAILURE, KAUFMAN OCULOCEREBROFACIAL SYNDROME, NOONAN SYNDROME 6, MENTAL RETARDATION, X-LINKED 93, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, BETA-UREIDOPROPIONASE DEFICIENCY, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, KBG SYNDROME, PREMATURE OVARIAN FAILURE 5, TREACHER COLLINS SYNDROME 1, ?BARDET-BIEDL SYNDROME 19, ELLIS-VAN CREVELD SYNDROME, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SENIOR-LOKEN SYNDROME 5, 3MC SYNDROME 2, RENAL CELL CARCINOMA, PAPILLARY, RENAL CELL CARCINOMA, PAPILLARY, 1, FAMILIAL AND SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP I, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, SPERMATOGENIC FAILURE 12, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, 46XY SEX REVERSAL 1, BRANCHIOOTORENAL SYNDROME 2, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 5, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, OROTIC ACIDURIA, HARTSFIELD SYNDROME, SPERMATOGENIC FAILURE, X-LINKED, 2, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), NEPHRONOPHTHISIS 12, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, ALSTROM SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, OPITZ GBBB SYNDROME, TYPE I, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MECKEL SYNDROME 10, MELNICK-FRASER SYNDROME, SECKEL SYNDROME 1, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, GALACTOSEMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BARTH SYNDROME, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, BOHRING-OPITZ SYNDROME, SPONDYLOOCULAR SYNDROME, DEMENTIA, FAMILIAL, NONSPECIFIC, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, FANCONI RENOTUBULAR SYNDROME 2, HAND-FOOT-UTERUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYDROLETHALUS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?OROFACIODIGITAL SYNDROME XIV, MECKEL SYNDROME 6, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, HEME OXYGENASE-1 DEFICIENCY, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, FACTOR VII DEFICIENCY, RENAL CELL CARCINOMA, RENAL CELL CARCINOMA, SOMATIC, RENAL CARCINOMA, CHROMOPHOBE, SOMATIC, RENAL CELL CARCINOMA, CLEAR CELL, SOMATIC, {RENAL CELL CARCINOMA}, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, DEAFNESS AND MYOPIA, KARTAGENER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOECTODERMAL DYSPLASIA 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), 3-M SYNDROME 1, ROBERTS SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, WARBURG MICRO SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?PRUNE BELLY SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, NEPHRONOPHTHISIS 3, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, OCULOECTODERMAL SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP N, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ?CRANIOECTODERMAL DYSPLASIA 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 3, ETHYLMALONIC ENCEPHALOPATHY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, UROFACIAL SYNDROME 2, VISCERAL MYOPATHY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, PREMATURE OVARIAN FAILURE 9, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, VICI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MUCOPOLYSACCHARIDOSIS TYPE IIID, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, SPERMATOGENIC FAILURE, Y-LINKED, 2, JOUBERT SYNDROME 21, ?CHARGE SYNDROME, CHARGE SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, VLCAD DEFICIENCY, JOUBERT SYNDROME 4, PREMATURE OVARIAN FAILURE 1, COMPLEMENT FACTOR H DEFICIENCY, HARTNUP DISORDER, PROUD SYNDROME, {PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY, SOMATIC}, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, ALAGILLE SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AD, 5-OXOPROLINASE DEFICIENCY, MYOPATHY DUE TO CPT II DEFICIENCY, JOUBERT SYNDROME-3, COENZYME Q10 DEFICIENCY, PRIMARY, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SPERMATOGENIC FAILURE 9, MEIER-GORLIN SYNDROME 4, BLEEDING DISORDER, PLATELET-TYPE, 11, ?N SYNDROME, ALPORT SYNDROME, COWDEN SYNDROME 4, NEUROFIBROMATOSIS-NOONAN SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, CYSTATHIONINURIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NEPHRONOPHTHISIS 15, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SENGERS SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, COWDEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, LIDDLE SYNDROME, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MCARDLE DISEASE, BARDET-BIEDL SYNDROME 2, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, PREMATURE OVARIAN FAILURE 2B, BARTTER SYNDROME, TYPE 4B, DIGENIC, BARTTER SYNDROME, TYPE 3, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MUIR-TORRE SYNDROME, COWDEN SYNDROME 5, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, NEPHROTIC SYNDROME, TYPE 4, OROFACIODIGITAL SYNDROME I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SPERMATOGENIC FAILURE 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, LADD SYNDROME, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, NEPHROTIC SYNDROME, TYPE 3, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), POLYCYSTIC KIDNEY AND HEPATIC DISEASE, SPERMATOGENIC FAILURE 8, APERT SYNDROME, GLYCOGEN STORAGE DISEASE XI, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, CILIARY DYSKINESIA, PRIMARY, 29, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, C4A DEFICIENCY, ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46XY SEX REVERSAL, PARTIAL OR COMPLETE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, BRACHYDACTYLY, TYPE B1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, STAR SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, LYMPHEDEMA, HEREDITARY, ID, NEPHROTIC SYNDROME, TYPE 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, ADAMS-OLIVER SYNDROME 6, LYSINURIC PROTEIN INTOLERANCE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MUCOLIPIDOSIS II ALPHA/BETA, GALLOWAY-MOWAT SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, BLOOM SYNDROME, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, INTERSTITIAL LUNG AND LIVER DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HYPERCALCEMIA, INFANTILE, BENT BONE DYSPLASIA SYNDROME, GITELMAN SYNDROME, CILIARY DYSKINESIA, PRIMARY, 9, WITH OR WITHOUT SITUS INVERSUS, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, VESICOURETERAL REFLUX 8, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, AGAMMAGLOBULINEMIA, X-LINKED 1, MILLER SYNDROME, BARDET-BIEDL SYNDROME 3, KLEEFSTRA SYNDROME, ?HYPERPROLACTINEMIA, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, SYSTEMIC LUPUS ERYTHEMATOSUS 16, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PETERS-PLUS SYNDROME, JOUBERT SYNDROME 16, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITT-HOPKINS SYNDROME, BURN-MCKEOWN SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, PSEUDOHYPOPARATHYROIDISM IC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TRIGONOCEPHALY 1, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, SUCCINYL COA:3-OXOACID COA TRANSFERASE DEFICIENCY, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, BARDET-BIEDL SYNDROME 8, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, BARDET-BIEDL SYNDROME 4, MEIER-GORLIN SYNDROME 5, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, SULFITE OXIDASE DEFICIENCY, SCALP-EAR-NIPPLE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, RITSCHER-SCHINZEL SYNDROME 1, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES, RUBINSTEIN-TAYBI SYNDROME, RIBOFLAVIN DEFICIENCY, PERRAULT SYNDROME 3, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, MUSCLE GLYCOGENOSIS, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, [PENTOSURIA], VESICOURETERAL REFLUX 3, BRUCK SYNDROME 2, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP B, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JOUBERT SYNDROME 2, ALKAPTONURIA, GLUCOSE/GALACTOSE MALABSORPTION, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CILIARY DYSKINESIA, PRIMARY, 24, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, NEPHRONOPHTHISIS 16, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, CILIARY DYSKINESIA, PRIMARY, 15, NEPHRONOPHTHISIS 2, INFANTILE, KOOLEN-DE VRIES SYNDROME, GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA, TUBEROUS SCLEROSIS 2, COUSIN SYNDROME, 46XX SEX REVERSAL 1, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, CARDIOFACIOCUTANEOUS SYNDROME, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, ARGININEMIA, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HYPERGLYCINURIA, PREMATURE OVARIAN FAILURE, WOODHOUSE-SAKATI SYNDROME, HYPOMAGNESEMIA 2, RENAL, BJORNSTAD SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, BARTTER SYNDROME, TYPE 1, OSTEOGLOPHONIC DYSPLASIA, LIPOPROTEIN GLOMERULOPATHY, FUMARASE DEFICIENCY, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, HEMOCHROMATOSIS, TYPE 2A, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ?LAURENCE-MOON SYNDROME, PREMATURE OVARIAN FAILURE 8, GLYCINE ENCEPHALOPATHY, SENIOR-LOKEN SYNDROME-1, ?BARDET-BIEDL SYNDROME 18, WHIM SYNDROME, GAPO SYNDROME, ISOVALERIC ACIDEMIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, LI-FRAUMENI SYNDROME, LIPOID ADRENAL HYPERPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ?SPERMATOGENIC FAILURE 6, BIRT-HOGG-DUBE SYNDROME, COFFIN-SIRIS SYNDROME 1, L-2-HYDROXYGLUTARIC ACIDURIA, RESTRICTIVE DERMOPATHY, LETHAL, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DIAPHANOSPONDYLODYSOSTOSIS, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CRANIOECTODERMAL DYSPLASIA 3, GENITOPATELLAR SYNDROME, MICROPHTHALMIA, SYNDROMIC 14, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), PREMATURE OVARIAN FAILURE 6, CALCIUM OXALATE UROLITHIASIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, OPITZ-KAVEGGIA SYNDROME, METACHROMATIC LEUKODYSTROPHY, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, JOUBERT SYNDROME 7, PCWH SYNDROME, NEPHRONOPHTHISIS 4, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, SENIOR-LOKEN SYNDROME 8, HYPOSPADIAS 2, X-LINKED, SCHAAF-YANG SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, CEREBROOCULOFACIOSKELETAL SYNDROME 2, 46XY SEX REVERSAL 7, JOUBERT SYNDROME 14, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, PERLMAN SYNDROME, RENPENNING SYNDROME, CILIARY DYSKINESIA, PRIMARY, 18, GLYCOGEN STORAGE DISEASE X, HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, INTERSTITIAL NEPHRITIS, KARYOMEGALIC, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, MECKEL SYNDROME 5, ANDROGEN INSENSITIVITY, ?SPERMATOGENIC FAILURE 13, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, NEPHROPATHY DUE TO CFHR5 DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, WEAVER SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PEPCK DEFICIENCY, MITOCHONDRIAL, HYPOPHOSPHATASIA, CHILDHOOD, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GRAY PLATELET SYNDROME, JOUBERT SYNDROME 18, MOWAT-WILSON SYNDROME, UTERINE LEIOMYOMA, ?MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3, SENIOR-LOKEN SYNDROME 7, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, HAWKINSINURIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BEAULIEU-BOYCOTT-INNES SYNDROME, MOLYBDENUM COFACTOR DEFICIENCY B, METHEMOGLOBINEMIA, TYPE IV, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA, CODAS SYNDROME, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS IVA, DENT DISEASE 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

Associated genes: CA2, TSC2, DNA2, GNAI2, TMEM216, EDNRA, WDR73, TCTN3, DCHS1, PKD2, SPINT2, FUZ, ACADS, NPHS2, CC2D2A, GNA11, NALCN, GNAS, CIITA, GLI3, COL3A1, PTPN22, ATP6V1B1, F2, GUSB, RBBP8, TP63, EVC2, LRRK2, BBS5, HBB, CD82, CASR, HAL, PRKCSH, BCOR, NSDHL, PKD1, GLYCTK, LYZ, B2M, TMEM237, LHCGR, PIEZO2, KIF7, ITGA3, TERT, ERCC6, TBC1D24, H6PD, CDC6, AGK, HLA-DQA1, FREM1, RTN2, TTC8, INPP5E, ARSE, DNAAF5, POR, PMS2, OCRL, HPSE2, WDR34, CYP7B1, SLC16A12, DNASE1L3, SCARB2, DYNC2H1, UPB1, EVC, BRAF, VANGL1, ATRX, FGFR3, TRPC6, FBXL4, APOA1, B9D2, SOX2, DLC1, TBX22, IFNG, F7, AR, IDS, RNF216, CCDC114, GNRHR, GLI2, BUB1B, BBS9, THBD, KCNJ10, TAF6, OPHN1, PEX6, CATSPER1, MT-CO2, GTF2H5, MARS2, ORC6, NR0B1, MCC, DSP, AMACR, SMARCE1, KCNJ1, DHH, CEP164, AP2S1, SSR4, SHANK3, PAPSS2, VPS33B, SGSH, CYP11B2, VEGFC, MMADHC, HSPD1, NANOS1, STEAP3, FCGR2B, FANCE, MT-CYB, ABCD4, HIP1, RYR1, LARS2, PGAM2, BBS2, CYP21A2, ZIC3, PSAP, HOXB13, XPNPEP3, FXYD2, KMT2A, AHI1, ATP5E, DYX1C1, KAT6B, ARG1, SEPT9, MT-CO1, MGME1, DPY19L2, HFE2, TRAF3IP1, ADAMTS13, ALDH4A1, HNF1B, SMAD4, BCS1L, CD151, ETHE1, DVL3, STAG3, SCNN1B, TMCO1, GDNF, CEP290, C1R, TPM2, CRTAP, LRP5, SLC19A2, HPRT1, CTDP1, PNPLA6, CFB, NARS2, INSL3, ERBB3, AMER1, DBH, RSPH4A, FLVCR1, MMACHC, RIPK4, CPT2, AXIN1, AIP, WDR35, GLIS2, MASP1, SLC5A1, NPHS1, SLC22A12, RAD54B, DNAH5, ARID1B, EPHB2, EZH2, HDAC8, RBMX, PTPRO, DNAH1, B4GAT1, PEX13, ACTA2, EFNB1, PEX5, TFE3, BGLAP, HAMP, TSC1, WDR11, NAA10, CTH, IL17RD, MTM1, TAC3, PDE4D, SLC7A7, POLA1, NSMF, HMBS, CUL4B, PIGA, ZFPM2, PSMC3IP, RAB18, FAN1, AURKA, IGHMBP2, PINK1, CD46, CD59, INPPL1, ACADVL, EIF2B5, TRMT10A, SLC17A5, NPHP1, SEC23A, PIGL, PTPN11, CXCR4, SOS2, MAPRE2, BSND, DNAAF1, SLC6A20, IFT27, HADHB, FH, FERMT1, TBX18, IER3IP1, ETFDH, D2HGDH, AKR1C2, RNF139, PCCA, BRWD3, ALG1, DNAAF2, LHB, DCDC2, BBS1, FANCI, FKRP, PTRH2, STAR, DNASE1, GATA4, ZMPSTE24, SNRPN, RAB40AL, CLCNKB, SNRPB, PDE6D, CCDC170, RNF113A, CTCF, RRM2B, POU6F2, FANCL, TMEM138, ATXN3, MYH9, DHCR24, POLR3B, SEMA3A, SRY, HPD, EXOC8, ARHGAP31, ACE, ACTG2, CCL2, PRDM5, DMPK, SKI, CCBE1, MAD1L1, TRIM32, PARK7, TREX1, FARS2, TSPYL1, ORC4, HIBCH, AURKC, MAP2K2, LZTFL1, GP1BA, NR4A2, ACTB, SEMA3E, MOCS2, G6PC, RAI1, DGUOK, GBA2, ALPL, B3GLCT, CFHR5, PCCB, TNXB, TMEM127, PTDSS1, APOPT1, HGSNAT, ITGA2B, MCCC2, GJA1, TAF4B, HNRNPK, FGA, BAAT, TYR, ZBTB20, SPG7, SLC25A1, UBE3B, IFT172, COL4A5, IKBKAP, PROK2, MMAB, NEK8, SPAG1, MT-CO3, NBN, PCNT, COG6, DHS6S1, CDC73, DNAI1, SETD5, NIPBL, RXFP2, DLL4, MYH3, PET100, ESCO2, SLC37A4, AARS2, CUL7, KIF1A, SBF1, FIG4, SYCP3, MCM8, SOX9, KYNU, DOK7, DNAI2, MLH3, PARK2, ALDOB, FOXL2, FANCA, CLCNKA, B9D1, ZP1, GUCY2D, DPAGT1, TRPV4, SLC34A3, TMEM231, FAM58A, ALS2, NOTCH1, IDH2, ANKRD11, ERCC3, DCXR, ATXN8OS, CBS, SACS, LDHA, CYB5A, HGD, CHUK, MECP2, AFF4, POC1A, FASTKD2, EHHADH, ESR1, GK, MAFB, PRCC, SCP2, RBM10, ATPAF2, C2CD3, NRAS, APOL1, LCAT, GP6, KISS1, STAC3, SLC6A19, CCDC28B, L2HGDH, WDPCP, MSH3, SI, XDH, RB1, FGF23, NLRP5, SIX5, EPG5, VPS35, RARB, DIAPH2, CUBN, NOBOX, NIN, PIGR, SUGCT, MED12, KCNJ5, BBS12, NT5C3A, PDGFRL, ZFHX3, USP8, DNAH8, TTC37, CTNNB1, AMT, FMO3, TREM2, COL4A4, OPCML, FLT4, SMAD9, TCN2, UBR1, CYP27B1, SC5D, TXNL4A, GRIP1, TAZ, ITPR3, AASS, OTX2, LRP2, BMP2, TMEM70, SLC52A2, B4GALNT1, CRB2, HMGCL, NDN, FOXP3, TNFRSF11B, KL, KANSL1, PCSK1, NPHP3, FGFR1, NAGLU, ATXN1, AXIN2, ETFA, TNFRSF11A, HLA-DQB1, CELSR1, DHCR7, CLDN16, TWIST2, CLIC2, PRKCD, TCTN2, AQP2, LMNB2, PCK1, SARS2, SLC20A2, WDR19, NIPA1, ARNT2, PTPRJ, KCNH1, SFTPC, ANTXR1, DHTKD1, ITGA6, KIT, UMOD, IVD, IFT140, PEX1, ARMC4, DLG3, UQCC2, C21orf59, SLC2A2, MKS1, OXCT1, PAX3, SLC9A6, NR3C1, ASXL1, GNS, CYP19A1, TEX15, UBA1, TGFB1, SLC39A4, HYLS1, GATA6, RRAS2, SRD5A2, TACR3, ZFYVE26, PRLR, TBCE, MUT, RFX5, RECQL4, NOS3, PLG, ADCK4, TYROBP, FRAS1, BLM, SERAC1, LRP4, ACTN4, TRIM37, WDR60, BMP15, SLC5A2, COLEC11, HCFC1, SOX18, AGA, CTLA4, FLNB, SLC3A1, TMEM67, STRA6, WNT4, RNASEL, GJC2, REEP2, NKX3-2, SMAD3, TLR2, SLC25A20, HSPG2, CCDC151, MSR1, C10orf2, SCRIB, F10, SERPINE1, SOX10, DCAF17, SLC34A1, C3AR1, SLC52A1, PHEX, CEP120, FSHB, CASP10, STT3B, SALL1, IL10RB, OPLAH, ATXN10, IFIH1, DNAAF3, HEXB, C1QC, PLCD1, MUC1, RSPH3, RPS26, ATP6V1B2, AGT, PMM2, C1QB, LEP, MTHFR, NOTCH3, PPP1R3A, SNCA, ZNF423, NPHP4, BTD, CDH1, IRX5, ZEB2, PDCD1, ECE1, STK11, FGF17, SLC12A3, FMR1, SALL4, ARSB, TAT, ARX, LAMB2, KLHL10, FANCM, MTR, COX8A, PIK3CA, RFXAP, ABCD1, LTBP4, DNAJC19, BMPER, WAS, JAG1, SBDS, ECEL1, MCCC1, CCDC40, NLRP7, GATA3, PRKACG, SLC7A9, SUOX, HOGA1, NF1, FAT4, AMN, TCOF1, F5, RIN2, SPATA16, ACADM, PLEC, UROC1, CBL, SCNN1G, CCDC39, CD320, LZTR1, FAM134B, LMBRD1, CLCN5, GPC3, IGF2, ANOS1, PGK1, CLUAP1, XYLT1, DCLRE1C, NR1I3, MAPT, CAD, KIF5A, ADH1C, SCNN1A, ATP6V0A4, LMNA, CYP11B1, USP9Y, GALT, HADHA, PLOD1, DCX, KDM5C, GUCY1A3, SNCAIP, MET, IFT122, ACAD9, ACP5, ANLN, HSD17B3, HPS1, TALDO1, GLIS3, SUCLA2, CD44, C3, DHODH, FKBP14, OCLN, BBS7, MLH1, MEGF8, GSC, GP9, XYLT2, COX14, RPS6KA3, STAMBP, ERCC8, AIRE, HAO1, RPL26, MOCS1, BSCL2, ICR1, CPT1A, WNT3, HUWE1, FCGR2A, FAM20C, ATL1, SETBP1, DDHD2, PPARG, KIF14, AMHR2, SERPINH1, KIAA0586, ACSF3, SDHD, ROBO2, G6PC3, MKKS, PAX2, LMX1B, HLA-DRB1, YAP1, SLITRK6, TBC1D20, SIL1, MAB21L2, WT1, VHL, FANCD2, COL4A1, SLC34A2, ARL6, SMARCAL1, ROR2, BRCA1, SOX17, COL4A3, FN1, INVS, HYDIN, SMS, TTC21B, GLDC, ALDH18A1, MNX1, KCTD1, PC, PHGDH, HCCS, CHMP2B, T, FGFR4, POLD1, EIF2B2, TINF2, RAD51C, HNF1A, MITF, H19, PROP1, PTEN, ALMS1, SLC9A3R1, GSN, TNNT2, CFH, FANCB, TK2, MRPS22, EHMT1, FAH, PFKM, GBE1, SERPINC1, THOC2, HSD17B4, CCNO, SUCLG1, MCEE, SLC29A3, KLF6, PDSS2, CHEK2, ASL, TLR4, GRHPR, SPECC1L, EIF2B1, GALNT3, PUF60, BCL10, PRNP, MED25, SLC2A9, PANK2, OGG1, FGFR2, TBP, HADH, ATP7A, FGF10, ITGB4, UPK3A, DKC1, NEK1, HFM1, APOE, TCF4, FSHR, SOS1, MYO1E, GATM, ATM, UBE2A, CREBBP, TBX1, BAX, GBA, FEZF1, SLC1A1, GNPTAB, THOC6, TEX11, DRC1, CACNA1S, STRADA, SEPT12, KMT2D, RIT1, PTH1R, HRAS, CFHR1, POLG, EIF2AK3, GPC6, CEP19, AGPAT2, HTRA1, IRF6, HMGA2, MPLKIP, ITGB3, SLC12A1, ZSWIM6, CYP17A1, KIF1BP, SLC36A2, NSD1, PLAU, SRCAP, ISCU, BRCA2, PODXL, HLCS, MPC1, IFT43, CD96, BBIP1, DIS3L2, APRT, GNAS-AS1, CNBP, CHRNG, MAP3K1, ANKS6, PIGT, DNM2, CDT1, EBP, CD2AP, ADCY10, TBX3, PKHD1, RSPH9, TFR2, AGTR1, PALB2, FAM111A, DTNBP1, MCIDAS, PRKAR1A, GALNS, PHYH, HOXA13, CEP41, KISS1R, RBM28, BTK, GDF6, CDKN2A, CCDC103, CLPP, MCFD2, COX6B1, RAB3GAP2, EFEMP2, CLASP1, KMT2C, PEX7, DACT1, SUFU, NEU1, IDUA, COX20, ITGA8, CBX2, ZMYND15, BMP4, VANGL2, MEFV, ERCC2, COQ6, UNG, REEP1, FGD1, RSPH1, OAS1, EIF2B4, VIPAS39, AUH, ARHGDIA, OPA3, ATIC, PLCE1, ATP6V0A2, TGDS, SPAST, PTCH1, WNT7A, CHD7, DGKE, PIGO, FBLN5, TP53, ZNF592, FLCN, WFS1, GLUD2, WRN, ZBTB16, AKR1C4, CHST14, PLA2G2A, GP1BB, GAS1, LMNB1, LPIN1, LRIG2, ARSA, EPHX1, UMPS, MID1, SDHB, MORC2, SDCCAG8, PGR, POF1B, XRCC4, PTCH2, ATR, MARS, SCO1, COPA, LONP1, CLDN19, HS6ST1, RPL11, PYCR1, C4A, RAB3GAP1, AVPR2, DVL1, OFD1, CCDC22, EP300, NR5A1, SLC4A1, MBTPS2, GCDH, MAX, GHR, POMT2, CLP1, LEPR, SF3B4, EYA1, PLOD2, FOXF1, PROKR2, CTNS, CYP24A1, ZMYND10, RFXANK, IQCB1, JAM3, PITX2, CEP83, PLIN1, RNU4ATAC, TTR, RET, PQBP1, REN, CFHR3, SMARCA2, FTCD, AHSG, HNF4A, INF2, PRPS1, VWF, KCNQ1OT1, PRODH, MVK, RAPSN, CSPP1, EMP2, FA2H, APC, ANKLE2, SLC4A4, KIF1B, PYGM, DIRC2, TMEM5, RPGRIP1L, BBS10, HSD3B2, SIX1, TCTN1, C1QA, KRAS, GALE, PRKDC, EXT2, WNT5A, TRNT1, RMND1, CFTR, CFI, RBM8A, C5orf42, SEC63, PIEZO1, NOTCH2, ABCC6, POMT1, AKT1, MAGEL2, PHKA1, CDKN1C, ATP7B, PIGN, MUSK, STK10, TBX15, TFAP2A, FIGLA, ADA, CHRM3, KAT5, DSTYK, SUMF1, ICK, NME1, FLNA, DNAJC13, STX16, POLR3A, MCM9, RAB23, COQ2, MAMLD1, PEX2, ATXN2, CYP11A1, PHF6, FANCC, RPL35A, AMH, KLLN, GLB1, SPG11, FGF8, ETFB, NLRP3, ORC1, BICC1, INSR, HYAL1, KIAA0196, SCN9A, EIF2B3, MXI1, AP5Z1, MSH2, CCND1, TRIM28, MSH6, PACS1, ODC1, AGXT, FREM2, CDKN1B, GLA, FAM20A, PTPN12, BBS4, TACO1, STS, SLX4, PEX19, PNP, HFE, FGF20, DCC, HMOX1, PGM3, NAGA, GCSH, GNRH1, NHP2, MYH11, ALOX12B, BMPR1B, MMAA, DNAL1, CKAP2L, PCK2, FTO, NBEAL2, MTRR, COX10, PORCN, CACNA1D, SHH