ULNAR HYPOPLASIA(OMIM機械翻訳)
UNCOMBABLE HAIR SYNDROME(OMIM機械翻訳)
UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY(OMIM機械翻訳)
UPINGTON DISEASE(OMIM機械翻訳)
MUCKLE-WELLS SYNDROME(OMIM機械翻訳)
VASCULAR HELIX OF UMBILICAL CORD(OMIM機械翻訳)
VELOCARDIOFACIAL SYNDROME(OMIM機械翻訳)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC; CMH(OMIM機械翻訳)
VERTEBRAL FUSION, POSTERIOR LUMBOSACRAL, WITH BLEPHAROPTOSIS(OMIM機械翻訳)
VERTICAL TALUS, CONGENITAL; CVT(OMIM機械翻訳)
VESTIBULOCOCHLEAR DYSFUNCTION, PROGRESSIVE(OMIM機械翻訳)
VESTIBULOPATHY, FAMILIAL(OMIM機械翻訳)
VITILIGO(OMIM機械翻訳)
VITREORETINOCHOROIDOPATHY; VRCP(OMIM機械翻訳)
VON HIPPEL-LINDAU SYNDROME; VHL(OMIM機械翻訳)
VON WILLEBRAND DISEASE(OMIM機械翻訳)
VULVOVAGINITIS, ALLERGIC SEMINAL(OMIM機械翻訳)
WAARDENBURG SYNDROME, TYPE I; WS1(OMIM機械翻訳)
WAARDENBURG SYNDROME, TYPE IIA; WS2A(OMIM機械翻訳)
WEYERS ACROFACIAL DYSOSTOSIS(OMIM機械翻訳)
WHISTLING FACE-WINDMILL VANE HAND SYNDROME(OMIM機械翻訳)
WHITE SPONGE NEVUS OF CANNON(OMIM機械翻訳)
WILMS TUMOR 1; WT1(OMIM機械翻訳)
WAGR SYNDROME(OMIM機械翻訳)
WILMS TUMOR AND PSEUDOHERMAPHRODITISM(OMIM機械翻訳)
WOLF-HIRSCHHORN SYNDROME; WHS(OMIM機械翻訳)
WOLFF-PARKINSON-WHITE SYNDROME(OMIM機械翻訳)
WOOLLY HAIR, AUTOSOMAL DOMINANT(OMIM機械翻訳)
WT LIMB-BLOOD SYNDROME(OMIM機械翻訳)
DEHYDRATED HEREDITARY STOMATOCYTOSIS; DHS(OMIM機械翻訳)
ABLEPHARON-MACROSTOMIA SYNDROME(OMIM機械翻訳)
ABSENT EYEBROWS AND EYELASHES WITH MENTAL RETARDATION(OMIM機械翻訳)
CHOREOACANTHOCYTOSIS; CHAC(OMIM機械翻訳)
ACANTHOSIS NIGRICANS WITH MUSCLE CRAMPS AND ACRAL ENLARGEMENT(OMIM機械翻訳)
ACHALASIA, FAMILIAL ESOPHAGEAL(OMIM機械翻訳)
ACHALASIA-ALACRIMA SYNDROME(OMIM機械翻訳)
ACHALASIA-MICROCEPHALY SYNDROME(OMIM機械翻訳)
ACHEIROPODY(OMIM機械翻訳)
ACHONDROGENESIS, TYPE IA; ACG1A(OMIM機械翻訳)
CHONDRODYSPLASIA, GREBE TYPE(OMIM機械翻訳)
ACKERMAN SYNDROME(OMIM機械翻訳)
ACROCEPHALOPOLYSYNDACTYLY TYPE II(OMIM機械翻訳)
ACROCRANIOFACIAL DYSOSTOSIS(OMIM機械翻訳)
ACROFACIAL DYSOSTOSIS SYNDROME OF RODRIGUEZ(OMIM機械翻訳)
ACROFRONTOFACIONASAL DYSOSTOSIS SYNDROME(OMIM機械翻訳)
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE(OMIM機械翻訳)
ACROOSTEOLYSIS, NEUROGENIC(OMIM機械翻訳)
ACRORENAL SYNDROME, AUTOSOMAL RECESSIVE(OMIM機械翻訳)
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY(OMIM機械翻訳)
AFIBRINOGENEMIA, CONGENITAL(OMIM機械翻訳)
SEVERE COMBINED IMMUNODEFICIENCY 1; SCID1(OMIM機械翻訳)
AGANGLIONOSIS, TOTAL INTESTINAL(OMIM機械翻訳)
DYSGNATHIA COMPLEX(OMIM機械翻訳)
AGONADISM WITH MULTIPLE INTERNAL MALFORMATIONS(OMIM機械翻訳)
NEUTROPENIA, CONGENITAL, AUTOSOMAL DOMINANT OR SPORADIC(OMIM機械翻訳)
FRONTONASAL DYSPLASIA WITH ALAR CLEFTS(OMIM機械翻訳)
ALBINISM, MINIMAL PIGMENT TYPE(OMIM機械翻訳)
ALBINISM WITH IMMUNE AND HEMATOLOGIC DEFECTS(OMIM機械翻訳)
HERMANSKY-PUDLAK SYNDROME; HPS(OMIM機械翻訳)
ALBINISM-MICROCEPHALY-DIGITAL ANOMALIES SYNDROME(OMIM機械翻訳)
ALEXANDER DISEASE(OMIM機械翻訳)
ALOPECIA-CONTRACTURES-DWARFISM MENTAL RETARDATION SYNDROME(OMIM機械翻訳)
ALOPECIA-EPILEPSY-OLIGOPHRENIA SYNDROME OF MOYNAHAN(OMIM機械翻訳)
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY(OMIM機械翻訳)
ALPHA-METHYLACETOACETICACIDURIA(OMIM機械翻訳)
ALSTROM SYNDROME; ALMS(OMIM機械翻訳)
CEROID LIPOFUSCINOSIS, NEURONAL 4; CLN4(OMIM機械翻訳)
CEROID LIPOFUSCINOSIS, NEURONAL 2, LATE INFANTILE TYPE; CLN2(OMIM機械翻訳)
AMELOGENESIS IMPERFECTA AND NEPHROCALCINOSIS(OMIM機械翻訳)
TANGIER DISEASE; TGD(OMIM機械翻訳)
ANEMIA AND TRIPHALANGEAL THUMBS(OMIM機械翻訳)
ANENCEPHALY(OMIM機械翻訳)
ANGIOMATOSIS, DIFFUSE CORTICOMENINGEAL, OF DIVRY AND VAN BOGAERT(OMIM機械翻訳)
ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL DEFICIENCY(OMIM機械翻訳)
TAKAYASU ARTERITIS(OMIM機械翻訳)
APHALANGY WITH HEMIVERTEBRAE(OMIM機械翻訳)
APROSENCEPHALY SYNDROME(OMIM機械翻訳)
AREDYLD(OMIM機械翻訳)
ARGININOSUCCINICACIDURIA(OMIM機械翻訳)
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY(OMIM機械翻訳)
ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH WHISTLING FACE(OMIM機械翻訳)
ARTHROGRYPOSIS WITH HYPERKERATOSIS(OMIM機械翻訳)
ARTHROGRYPOSIS-LIKE DISORDER(OMIM機械翻訳)
ARTHROPATHY-CAMPTODACTYLY SYNDROME(OMIM機械翻訳)
ASCITES, CHYLOUS(OMIM機械翻訳)
ASPHYXIATING THORACIC DYSTROPHY; ATD(OMIM機械翻訳)
ASPLENIA WITH CARDIOVASCULAR ANOMALIES(OMIM機械翻訳)
PYRUVATE DECARBOXYLASE DEFICIENCY(OMIM機械翻訳)
ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE(OMIM機械翻訳)
BARBER-SAY SYNDROME(OMIM機械翻訳)
BARE LYMPHOCYTE SYNDROME, TYPE II(OMIM機械翻訳)
BEEMER LETHAL MALFORMATION SYNDROME(OMIM機械翻訳)
BEHR SYNDROME(OMIM機械翻訳)
BERRY ANEURYSM, CIRRHOSIS, PULMONARY EMPHYSEMA, AND CEREBRAL CALCIFICATION(OMIM機械翻訳)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY(OMIM機械翻訳)
SECKEL SYNDROME(OMIM機械翻訳)
BIRD-HEADED DWARFISM, MONTREAL TYPE(OMIM機械翻訳)
BLOOM SYNDROME; BLM(OMIM機械翻訳)
BLUE DIAPER SYNDROME(OMIM機械翻訳)
C SYNDROME(OMIM機械翻訳)
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