PARANA HARD-SKIN SYNDROME(OMIM機械翻訳)
PARKINSON-DEMENTIA SYNDROME(OMIM機械翻訳)
PEHO SYNDROME(OMIM機械翻訳)
PELLAGRA-LIKE SYNDROME(OMIM機械翻訳)
MEGALOBLASTIC ANEMIA 1; MGA1(OMIM機械翻訳)
D-BIFUNCTIONAL PROTEIN DEFICIENCY(OMIM機械翻訳)
PETERS ANOMALY WITH SHORT-LIMB DWARFISM(OMIM機械翻訳)
PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II; PMDS(OMIM機械翻訳)
PFEIFFER-PALM-TELLER SYNDROME(OMIM機械翻訳)
PHAVER SYNDROME(OMIM機械翻訳)
PIERRE ROBIN SYNDROME(OMIM機械翻訳)
PILI TORTI AND NERVE DEAFNESS(OMIM機械翻訳)
PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES(OMIM機械翻訳)
PITT SYNDROME(OMIM機械翻訳)
PITUITARY DWARFISM I(OMIM機械翻訳)
PITUITARY DWARFISM IV(OMIM機械翻訳)
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE; ARPKD(OMIM機械翻訳)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III(OMIM機械翻訳)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE II(OMIM機械翻訳)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE I(OMIM機械翻訳)
POTASSIUM AND MAGNESIUM DEPLETION(OMIM機械翻訳)
PRADER-WILLI HABITUS, OSTEOPENIA, AND CAMPTODACTYLY(OMIM機械翻訳)
PSEUDOTRISOMY 13 SYNDROME(OMIM機械翻訳)
PTERYGIUM SYNDROME(OMIM機械翻訳)
PTOSIS OF EYELIDS WITH DIASTASIS RECTI AND HIP DYSPLASIA(OMIM機械翻訳)
PYLE DISEASE(OMIM機械翻訳)
PYRUVATE CARBOXYLASE DEFICIENCY(OMIM機械翻訳)
RADIOULNAR SYNOSTOSIS, UNILATERAL, WITH DEVELOPMENTAL RETARDATION AND HYPOTONIA(OMIM機械翻訳)
RAMON SYNDROME(OMIM機械翻訳)
RAPADILINO SYNDROME(OMIM機械翻訳)
SENIOR-LOKEN SYNDROME(OMIM機械翻訳)
RENAL DYSPLASIA-LIMB DEFECTS SYNDROME(OMIM機械翻訳)
RENAL HAMARTOMAS, NEPHROBLASTOMATOSIS, AND FETAL GIGANTISM(OMIM機械翻訳)
RENAL-HEPATIC-PANCREATIC DYSPLASIA WITH DANDY-WALKER CYST(OMIM機械翻訳)
KNOBLOCH SYNDROME; KNO(OMIM機械翻訳)
RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA(OMIM機械翻訳)
RETINOPATHY, PIGMENTARY, AND MENTAL RETARDATION(OMIM機械翻訳)
REVESZ SYNDROME(OMIM機械翻訳)
ROBERTS SYNDROME; RBS(OMIM機械翻訳)
ROBINOW SYNDROME, AUTOSOMAL RECESSIVE(OMIM機械翻訳)
ROTHMUND-THOMSON SYNDROME; RTS(OMIM機械翻訳)
ROWLEY-ROSENBERG SYNDROME(OMIM機械翻訳)
RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME(OMIM機械翻訳)
SANDHOFF DISEASE(OMIM機械翻訳)
SARCOSINEMIA(OMIM機械翻訳)
SCHINZEL-GIEDION MIDFACE-RETRACTION SYNDROME(OMIM機械翻訳)
SCHMIDT SYNDROME(OMIM機械翻訳)
SCHWARTZ-LELEK SYNDROME(OMIM機械翻訳)
SEA-BLUE HISTIOCYTE DISEASE(OMIM機械翻訳)
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY; BSCL(OMIM機械翻訳)
SEIZURES, BENIGN FAMILIAL NEONATAL(OMIM機械翻訳)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IV(OMIM機械翻訳)
INFANTILE SIALIC ACID STORAGE DISORDER(OMIM機械翻訳)
SIALURIA(OMIM機械翻訳)
SIDEROBLASTIC ANEMIA, AUTOSOMAL(OMIM機械翻訳)
SONODA SYNDROME(OMIM機械翻訳)
SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES(OMIM機械翻訳)
FITZSIMMONS-GUILBERT SYNDROME(OMIM機械翻訳)
SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES(OMIM機械翻訳)
SPERMATOGENESIS ARREST(OMIM機械翻訳)
SPONDYLOPERIPHERAL DYSPLASIA WITH SHORT ULNA(OMIM機械翻訳)
CANAVAN DISEASE(OMIM機械翻訳)
STRIATONIGRAL DEGENERATION, INFANTILE(OMIM機械翻訳)
SUDDEN INFANT DEATH SYNDROME(OMIM機械翻訳)
SUGARMAN BRACHYDACTYLY(OMIM機械翻訳)
SUMMITT SYNDROME(OMIM機械翻訳)
SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION(OMIM機械翻訳)
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME(OMIM機械翻訳)
TARDIVE DYSKINESIA(OMIM機械翻訳)
TAURODONTISM(OMIM機械翻訳)
TAY-SACHS DISEASE; TSD(OMIM機械翻訳)
TEEBI-SHALTOUT SYNDROME(OMIM機械翻訳)
TESTICULAR TUMORS(OMIM機械翻訳)
THALAMIC DEGENERATION, SYMMETRIC INFANTILE(OMIM機械翻訳)
THREE M SYNDROME(OMIM機械翻訳)
THROMBASTHENIA OF GLANZMANN AND NAEGELI(OMIM機械翻訳)
THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME(OMIM機械翻訳)
THYMIC-RENAL-ANAL-LUNG DYSPLASIA(OMIM機械翻訳)
PENDRED SYNDROME; PDS(OMIM機械翻訳)
TIGHT SKIN CONTRACTURE SYNDROME, LETHAL(OMIM機械翻訳)
THYMIC-RENAL-ANAL-LUNG DYSPLASIA(OMIM機械翻訳)
TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION(OMIM機械翻訳)
TYROSINE TRANSAMINASE DEFICIENCY(OMIM機械翻訳)
TYROSINEMIA, TYPE I(OMIM機械翻訳)
ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY(OMIM機械翻訳)
ULNAR HYPOPLASIA WITH MENTAL RETARDATION(OMIM機械翻訳)
UROCANASE DEFICIENCY(OMIM機械翻訳)
USHER SYNDROME, TYPE IA; USH1A(OMIM機械翻訳)
USHER SYNDROME, TYPE IIA; USH2A(OMIM機械翻訳)
MYOSIN VIIA; MYO7A(OMIM機械翻訳)
USHER SYNDROME, TYPE IIB; USH2B(OMIM機械翻訳)
VACTERL ASSOCIATION WITH HYDROCEPHALUS(OMIM機械翻訳)
VAGINA, ABSENCE OF(OMIM機械翻訳)
VALINEMIA(OMIM機械翻訳)
VAN BOGAERT-HOZAY SYNDROME(OMIM機械翻訳)
VARADI-PAPP SYNDROME(OMIM機械翻訳)
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE, 1(OMIM機械翻訳)
VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF; VED(OMIM機械翻訳)
VON WILLEBRAND DISEASE, RECESSIVE FORM(OMIM機械翻訳)
WAARDENBURG-SHAH SYNDROME(OMIM機械翻訳)
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