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 MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA(OMIM機械翻訳
 MARSHALL-SMITH SYNDROME(OMIM機械翻訳
 CAMPTODACTYLY, MYOPIA, AND FIBROSIS OF THE MEDIAL RECTUS MUSCLE OF EYE(OMIM機械翻訳
 RENAL CELL CARCINOMA 4(OMIM機械翻訳
 MUENKE SYNDROME(OMIM機械翻訳
 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM(OMIM機械翻訳
 MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME; MNGIE(OMIM機械翻訳
 MECKEL SYNDROME, TYPE 2; MKS2(OMIM機械翻訳
 GRACILE SYNDROME(OMIM機械翻訳
 THYROID CARCINOMA, NONMEDULLARY, WITH CELL OXYPHILIA(OMIM機械翻訳
 ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA(OMIM機械翻訳
 NEURONAL INTRANUCLEAR INCLUSION DISEASE(OMIM機械翻訳
 HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1(OMIM機械翻訳
 OMENN SYNDROME(OMIM機械翻訳
 SITUS INVERSUS TOTALIS WITH CYSTIC DYSPLASIA OF KIDNEYS AND PANCREAS(OMIM機械翻訳
 EXOSTOSIS, DUPUYTREN SUBUNGUAL(OMIM機械翻訳
 SPINOCEREBELLAR ATAXIA 8; SCA8(OMIM機械翻訳
 YOUNG-SIMPSON SYNDROME(OMIM機械翻訳
 PETERS ANOMALY WITH CATARACT(OMIM機械翻訳
 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM(OMIM機械翻訳
 SICKLE CELL ANEMIA(OMIM機械翻訳
 INTERVERTEBRAL DISC DISEASE; IDD(OMIM機械翻訳
 CERVICAL CANCER(OMIM機械翻訳
 MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS; MLC(OMIM機械翻訳
 KERATOSIS PILARIS(OMIM機械翻訳
 NAVAJO POIKILODERMA(OMIM機械翻訳
 PETERS ANOMALY(OMIM機械翻訳
 CAMERA-MARUGO-COHEN SYNDROME(OMIM機械翻訳
 RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE(OMIM機械翻訳
 MASS SYNDROME(OMIM機械翻訳
 SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1; SMARD1(OMIM機械翻訳
 REFLEX SYMPATHETIC DYSTROPHY(OMIM機械翻訳
 SIALURIA, FINNISH TYPE(OMIM機械翻訳
 WELANDER DISTAL MYOPATHY; WDM(OMIM機械翻訳
 BARE LYMPHOCYTE SYNDROME, TYPE I(OMIM機械翻訳
 ORTHOSTATIC INTOLERANCE(OMIM機械翻訳
 POLYCYSTIC BONE DISEASE(OMIM機械翻訳
 PANBRONCHIOLITIS, DIFFUSE(OMIM機械翻訳
 STICKLER SYNDROME, TYPE II; STL2(OMIM機械翻訳
 LYMPHOMA, NON-HODGKIN, FAMILIAL(OMIM機械翻訳
 NEMALINE MYOPATHY, AMISH TYPE; ANM(OMIM機械翻訳
 USHER SYNDROME, TYPE IIC; USH2C(OMIM機械翻訳
 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1(OMIM機械翻訳
 CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2(OMIM機械翻訳
 CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA(OMIM機械翻訳
 BIRDSHOT CHORIORETINOPATHY(OMIM機械翻訳
 GLYCINE ENCEPHALOPATHY; GCE(OMIM機械翻訳
 ACROPECTORAL SYNDROME(OMIM機械翻訳
 FAMILIAL WILMS TUMOR 2(OMIM機械翻訳
 PROPIONICACIDEMIA(OMIM機械翻訳
 SENER SYNDROME(OMIM機械翻訳
 CARDIOMYOPATHY, FATAL FETAL, DUE TO MYOCARDIAL CALCIFICATION(OMIM機械翻訳
 PARS PLANITIS(OMIM機械翻訳
 MENINGIOMA, RADIATION-INDUCED(OMIM機械翻訳
 USHER SYNDROME TYPE III GENE; USH3A(OMIM機械翻訳
 EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY(OMIM機械翻訳
 PHACE ASSOCIATION(OMIM機械翻訳
 VAN DER WOUDE SYNDROME 2(OMIM機械翻訳
 SECKEL SYNDROME 2(OMIM機械翻訳
 CILIARY DYSKINESIA, PRIMARY, 2; CILD2(OMIM機械翻訳
 SYMPHALANGISM, DISTAL, WITH MICRODONTIA, DENTAL PULP STONES, AND NARROWED ZYGOMATIC ARCH(OMIM機械翻訳


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