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 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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