DISEASE:
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3-@METHYLGLUTACONIC ACIDURIA, TYPE IV
3-@METHYLGLUTACONIC ACIDURIA, TYPE V
ACROCALLOSAL SYNDROME
ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
ACTION MYOCLONUS-RENAL FAILURE SYNDROME
ADAMS-OLIVER SYNDROME
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-AL.....
ADRENAL HYPOPLASIA, CONGENITAL
ADRENOLEUKODYSTROPHY
AGONADISM, XY, WITH MENTAL RETARDATION, SHORT.....
ALAGILLE SYNDROME 1
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME.....
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME.....
ALPORT SYNDROME, AUTOSOMAL DOMINANT
ALPORT SYNDROME, AUTOSOMAL RECESSIVE
ALPORT SYNDROME, X-LINKED
ALSTROM SYNDROME
AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE, IG
ANDROGEN INSENSITIVITY SYNDROME
ANTLEY-BIXLER SYNDROME
APERT SYNDROME
ARTHROGRYPOSIS, DISTAL, TYPE 2A
ATAXIA-TELANGIECTASIA
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I
BARDET-BIEDL SYNDROME
BARE LYMPHOCYTE SYNDROME, TYPE II
BASAL CELL NEVUS SYNDROME
BECKWITH-WIEDEMANN SYNDROME
BEHCET SYNDROME
BIRT-HOGG-DUBE SYNDROME
BLADDER CANCER
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVE.....
BLOOM SYNDROME
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLAS.....
BRANCHIOOTORENAL SYNDROME 1
CAMPOMELIA, CUMMING TYPE
CAMPOMELIC DYSPLASIA
CARNEVALE SYNDROME
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY,.....
CAT EYE SYNDROME
CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WI.....
CHARGE SYNDROME
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL.....
CHONDRODYSPLASIA-PSEUDOHERMAPHRODITISM SYNDROME
CHROMOSOME 18q DELETION SYNDROME
COENZYME Q10 DEFICIENCY
COFFIN-SIRIS SYNDROME
COLOBOMA-OBESITY-HYPOGENITALISM-MENTAL RETARD.....
COLORECTAL CANCER
COMPLEMENT FACTOR H DEFICIENCY
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
CORNELIA DE LANGE SYNDROME 1
CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL G.....
COWDEN DISEASE
CRANIOFRONTONASAL SYNDROME
CRANIOLENTICULOSUTURAL DYSPLASIA
CURRARINO SYNDROME
CUSHING DISEASE, PITUITARY
CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
CYSTIC FIBROSIS
CYSTIC FIBROSIS WITH HELICOBACTER PYLORI GAST.....
CYSTINOSIS, NEPHROPATHIC
CYSTINURIA
D-BIFUNCTIONAL PROTEIN DEFICIENCY
DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENT.....
DENYS-DRASH SYNDROME
DESMOSTEROLOSIS
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL
DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED
DIABETES MELLITUS, INSULIN-DEPENDENT
DIGEORGE SYNDROME
DONNAI-BARROW SYNDROME
DONOHUE SYNDROME
DOSAGE-SENSITIVE SEX REVERSAL
DUANE-RADIAL RAY SYNDROME
DYSKERATOSIS CONGENITA, X-LINKED
DYSTROPHIA MYOTONICA 1
EAR, PATELLA, SHORT STATURE SYNDROME
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DO.....
ELLIS-VAN CREVELD SYNDROME
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ON.....
EXFOLIATION SYNDROME
FABRY DISEASE
FACIOGENITAL DYSPLASIA
FAMILIAL MEDITERRANEAN FEVER
FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
FANCONI ANEMIA
FATAL FAMILIAL INSOMNIA
FRASIER SYNDROME
GALACTOSEMIA
GENITOPATELLAR SYNDROME
GENITOURINARY DYSPLASIA COMPONENT OF WAGR SYN.....
GITELMAN SYNDROME
GLOBOZOOSPERMIA
GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS
GLYCOGEN STORAGE DISEASE Ib
GLYCOGEN STORAGE DISEASE V
GONADAL AGENESIS
GONADAL DYSGENESIS, XY TYPE
GOODPASTURE SYNDROME
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
GROWTH HORMONE INSENSITIVITY SYNDROME
GROWTH-MENTAL DEFICIENCY SYNDROME OF MYHRE
HEMATURIA, BENIGN FAMILIAL
HEMIFACIAL MICROSOMIA
HERMANSKY-PUDLAK SYNDROME
HERMAPHRODITISM, TRUE
HOLOPROSENCEPHALY
HOLOPROSENCEPHALY 3
HYDATIDIFORM MOLE
HYPEROXALURIA, PRIMARY, TYPE I
HYPERPROLINEMIA, TYPE I
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE
HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, ME.....
HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, A.....
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
HYPOTHALAMIC HAMARTOMAS
HYPOTONIA-CYSTINURIA SYNDROME
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
IgA NEPHROPATHY 1
INFERTILE MALE SYNDROME
IRIS COLOBOMA WITH PTOSIS, HYPERTELORISM, AND.....
JACOBSEN SYNDROME
JOUBERT SYNDROME 1
JOUBERT SYNDROME 4
KABUKI SYNDROME
KALLMANN SYNDROME 2
KALLMANN SYNDROME 3
KARTAGENER SYNDROME
KEARNS-SAYRE SYNDROME
LACRIMOAURICULODENTODIGITAL SYNDROME
LACTIC ACIDOSIS, FATAL INFANTILE
LEIOMYOMA, UTERINE
LEIOMYOMATOSIS, ESOPHAGEAL AND VULVAL, WITH N.....
LEOPARD SYNDROME 1
LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3
LIPOID CONGENITAL ADRENAL HYPERPLASIA
MCKUSICK-KAUFMAN SYNDROME
MECKEL SYNDROME, TYPE 1
MEDULLARY CYSTIC KIDNEY DISEASE 1
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTAL.....
MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-L.....
MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
MENTAL RETARDATION, X-LINKED, SYNDROMIC, JARI.....
MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR.....
METACHROMATIC LEUKODYSTROPHY
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cb.....
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-C.....
MICROPHTHALMIA, SYNDROMIC 2
MICROPHTHALMIA, SYNDROMIC 3
MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 9
MILLER-DIEKER LISSENCEPHALY SYNDROME
MOEBIUS SYNDROME
MOWAT-WILSON SYNDROME
MUCKLE-WELLS SYNDROME
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO
MYOTUBULAR MYOPATHY 1
NAIL-PATELLA SYNDROME
NEPHRONOPHTHISIS 1
NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 3
NEPHRONOPHTHISIS 4
NEPHROSIS 1, CONGENITAL, FINNISH TYPE
NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE.....
NEPHROTIC SYNDROME, TYPE 3
NEUROBLASTOMA
NIJMEGEN BREAKAGE SYNDROME
NOONAN SYNDROME 1
OPITZ SYNDROME
OSTEOGENESIS IMPERFECTA, TYPE IIB
OSTEOGENESIS IMPERFECTA, TYPE VIII
OSTEOGLOPHONIC DYSPLASIA
OTOPALATODIGITAL SYNDROME, TYPE II
OVARIAN DYSGENESIS 1
OVARIAN HYPERSTIMULATION SYNDROME
PALLISTER-HALL SYNDROME
PAPILLORENAL SYNDROME
PARAGANGLIOMAS 4
PELVIC ORGAN PROLAPSE
PEUTZ-JEGHERS SYNDROME
PHEOCHROMOCYTOMA
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE
POLYCYSTIC KIDNEYS
POLYCYSTIC OVARY SYNDROME 1
POPLITEAL PTERYGIUM SYNDROME
POR DEFICIENCY
PORPHYRIA, ACUTE INTERMITTENT
PRADER-WILLI SYNDROME
PREECLAMPSIA/ECLAMPSIA 1
PREMATURE OVARIAN FAILURE 1
PROGESTERONE RESISTANCE
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RE.....
PSEUDOTRISOMY 13 SYNDROME
REIFENSTEIN SYNDROME
RENAL CELL CARCINOMA 1
RENAL CYSTS AND DIABETES SYNDROME
RENAL DYSPLASIA, RETINAL PIGMENTARY DYSTROPHY.....
RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FE.....
RENAL TUBULAR DYSGENESIS
RHABDOMYOLYSIS, ACUTE RECURRENT
RIEGER SYNDROME, TYPE 1
ROBINOW SYNDROME, AUTOSOMAL DOMINANT
ROKITANSKY-KUSTER-HAUSER SYNDROME
RUBINSTEIN-TAYBI SYNDROME
SANDHOFF DISEASE
SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
SCHIZOPHRENIA 1
SENIOR-LOKEN SYNDROME 1
SENIOR-LOKEN SYNDROME 5
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITI.....
SHORT SYNDROME
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
SHWACHMAN-DIAMOND SYNDROME
SILVER-RUSSELL SYNDROME
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
SMITH-LEMLI-OPITZ SYNDROME
SMITH-MAGENIS SYNDROME
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT
SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
SPINAL MUSCULAR ATROPHY, INFANTILE X-LINKED
SPINOCEREBELLAR ATAXIA 1
SPINOCEREBELLAR ATAXIA 17
SPINOCEREBELLAR ATAXIA 2
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
SYSTEMIC LUPUS ERYTHEMATOSUS
TESTICULAR TUMORS
TOWNES-BROCKS SYNDROME
TRICHORHINOPHALANGEAL SYNDROME, TYPE II
TRIGONOCEPHALY, NONSYNDROMIC
TUBEROUS SCLEROSIS
ULNAR-MAMMARY SYNDROME
UROGENITAL ADYSPLASIA, HEREDITARY
VATER ASSOCIATION
VESICOURETERAL REFLUX 1
VON HIPPEL-LINDAU SYNDROME
WAARDENBURG SYNDROME, TYPE I
WAGR SYNDROME
WALKER-WARBURG SYNDROME
WEAVER SYNDROME
WILLIAMS-BEUREN SYNDROME
WILMS TUMOR 1
WILMS TUMOR 3
WILMS TUMOR 4
WILMS TUMOR 5
WISKOTT-ALDRICH SYNDROME
WOLF-HIRSCHHORN SYNDROME
XX MALE SYNDROME
ZELLWEGER SYNDROME