PATELLA APLASIA, COXA VARA, AND TARSAL SYNOSTOSIS(OMIM機械翻訳)
CHAR SYNDROME(OMIM機械翻訳)
BENIGN CHRONIC PEMPHIGUS; BCPM(OMIM機械翻訳)
HYPERKALEMIC PERIODIC PARALYSIS; HYPP(OMIM機械翻訳)
NORMOKALEMIC PERIODIC PARALYSIS(OMIM機械翻訳)
PERNICIOUS ANEMIA(OMIM機械翻訳)
PERONEAL NERVE, ACCESSORY DEEP(OMIM機械翻訳)
PEYRONIE DISEASE(OMIM機械翻訳)
SULFOTRANSFERASE FAMILY 1A, PHENOL-PREFERRING, MEMBER 1; SULT1A1(OMIM機械翻訳)
PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME(OMIM機械翻訳)
PIERRE ROBIN SYNDROME AND OLIGODACTYLY(OMIM機械翻訳)
PITYRIASIS RUBRA PILARIS(OMIM機械翻訳)
POIKILODERMA, HEREDITARY ACROKERATOTIC(OMIM機械翻訳)
POLAND SYNDROME(OMIM機械翻訳)
POLYCYSTIC KIDNEYS(OMIM機械翻訳)
POLYCYSTIC KIDNEY DISEASE 2; PKD2(OMIM機械翻訳)
MEDULLARY CYSTIC KIDNEY DISEASE 1; MCKD1(OMIM機械翻訳)
POLYDACTYLY, POSTAXIAL, WITH PROGRESSIVE MYOPIA(OMIM機械翻訳)
POLYPOSIS, JUVENILE INTESTINAL(OMIM機械翻訳)
ADENOMATOUS POLYPOSIS OF THE COLON; APC(OMIM機械翻訳)
PEUTZ-JEGHERS SYNDROME; PJS(OMIM機械翻訳)
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS(OMIM機械翻訳)
PORENCEPHALY, FAMILIAL(OMIM機械翻訳)
PRADER-WILLI SYNDROME; PWS(OMIM機械翻訳)
TRANSTHYRETIN; TTR(OMIM機械翻訳)
PRECOCIOUS PUBERTY(OMIM機械翻訳)
PRECOCIOUS PUBERTY, MALE-LIMITED(OMIM機械翻訳)
DEMENTIA, FAMILIAL BRITISH; FBD(OMIM機械翻訳)
PROGERIA(OMIM機械翻訳)
PROGEROID SHORT STATURE WITH PIGMENTED NEVI(OMIM機械翻訳)
PROTEUS SYNDROME(OMIM機械翻訳)
ZETA-CHAIN-ASSOCIATED PROTEIN KINASE; ZAP70(OMIM機械翻訳)
BUTYRYLCHOLINESTERASE; BCHE(OMIM機械翻訳)
PSEUDO-VON WILLEBRAND DISEASE(OMIM機械翻訳)
PULMONARY EDEMA OF MOUNTAINEERS(OMIM機械翻訳)
PULMONARY FIBROSIS, IDIOPATHIC(OMIM機械翻訳)
PUPIL, EGG-SHAPED(OMIM機械翻訳)
RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA(OMIM機械翻訳)
RADIAL RAY HYPOPLASIA WITH CHOANAL ATRESIA(OMIM機械翻訳)
RADIOULNAR SYNOSTOSIS(OMIM機械翻訳)
RIEGER SYNDROME, TYPE 1; RIEG1(OMIM機械翻訳)
ROBINOW-SORAUF SYNDROME(OMIM機械翻訳)
ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA(OMIM機械翻訳)
RUBINSTEIN SYNDROME(OMIM機械翻訳)
RUBINSTEIN-LIKE SYNDROME(OMIM機械翻訳)
RUSSELL-SILVER SYNDROME; RSS(OMIM機械翻訳)
SAY SYNDROME(OMIM機械翻訳)
SCALP-EAR-NIPPLE SYNDROME(OMIM機械翻訳)
ULNAR-MAMMARY SYNDROME; UMS(OMIM機械翻訳)
SCHOLTE SYNDROME(OMIM機械翻訳)
SCLEROTYLOSIS; TYS(OMIM機械翻訳)
SEBORRHEIC KERATOSES(OMIM機械翻訳)
SEPTOOPTIC DYSPLASIA(OMIM機械翻訳)
SMITH-MAGENIS SYNDROME; SMS(OMIM機械翻訳)
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A(OMIM機械翻訳)
SPLIT-HAND WITH CONGENITAL NYSTAGMUS, FUNDAL CHANGES, AND CATARACTS(OMIM機械翻訳)
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE(OMIM機械翻訳)
SPONDYLOMETAPHYSEAL DYSPLASIA(OMIM機械翻訳)
SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE(OMIM機械翻訳)
STEATOCYSTOMA MULTIPLEX(OMIM機械翻訳)
STEATOCYSTOMA MULTIPLEX WITH NATAL TEETH(OMIM機械翻訳)
POLYCYSTIC OVARY SYNDROME 1; PCOS1(OMIM機械翻訳)
STICKLER SYNDROME, TYPE III; STL3(OMIM機械翻訳)
STURGE-WEBER SYNDROME(OMIM機械翻訳)
SUBGLOTTIC BAR(OMIM機械翻訳)
SUPRABULBAR PARESIS, CONGENITAL(OMIM機械翻訳)
SUPRAVALVULAR AORTIC STENOSIS; SVAS(OMIM機械翻訳)
SYNDACTYLY, TYPE II(OMIM機械翻訳)
MULTIPLE SYNOSTOSES SYNDROME 1; SYNS1(OMIM機械翻訳)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES(OMIM機械翻訳)
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER; HHT(OMIM機械翻訳)
TEMPORAL ARTERITIS(OMIM機械翻訳)
TENDONS, EXTENSOR, OF FINGERS, ANOMALOUS INSERTION OF(OMIM機械翻訳)
TETRALOGY OF FALLOT(OMIM機械翻訳)
THANATOPHORIC DYSPLASIA; TD(OMIM機械翻訳)
THROMBOCYTOPENIA 2; THC2(OMIM機械翻訳)
THUMB DEFORMITY(OMIM機械翻訳)
THUMB DEFORMITY AND ALOPECIA(OMIM機械翻訳)
DIGEORGE SYNDROME; DGS(OMIM機械翻訳)
THYROGLOSSAL DUCT CYST, FAMILIAL(OMIM機械翻訳)
THYROID CARCINOMA, FOLLICULAR; FTC(OMIM機械翻訳)
THYROID CARCINOMA, PAPILLARY(OMIM機械翻訳)
THYROID HORMONE PLASMA MEMBRANE TRANSPORT DEFECT(OMIM機械翻訳)
TIBIA VARA(OMIM機械翻訳)
TIBIA, ABSENCE OF, WITH POLYDACTYLY(OMIM機械翻訳)
WITKOP SYNDROME(OMIM機械翻訳)
RACHEOESOPHAGEAL FISTULA WITH OR WITHOUT ESOPHAGEAL ATRESIA(OMIM機械翻訳)
TRACHEOPATHIA OSTEOPLASTICA(OMIM機械翻訳)
THYROID HORMONE RECEPTOR, BETA; THRB(OMIM機械翻訳)
TREMOR, NYSTAGMUS, AND DUODENAL ULCER(OMIM機械翻訳)
TRICHODENTOOSSEOUS SYNDROME(OMIM機械翻訳)
TRICHOMEGALY(OMIM機械翻訳)
TRICHODISCOMAS, FAMILIAL MULTIPLE(OMIM機械翻訳)
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1(OMIM機械翻訳)
TRIGGER THUMB(OMIM機械翻訳)
TRIPHALANGEAL THUMB, NONOPPOSABLE(OMIM機械翻訳)
TRIPHALANGEAL THUMBS WITH BRACHYECTRODACTYLY(OMIM機械翻訳)
ULCERATIVE COLITIS, SUSCEPTIBILITY TO(OMIM機械翻訳)
ULNA AND FIBULA, HYPOPLASIA OF(OMIM機械翻訳)
ULNA METAPHYSEAL DYSPLASIA SYNDROME(OMIM機械翻訳)
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