GAPO SYNDROME(OMIM機械翻訳)
GASTROSCHISIS(OMIM機械翻訳)
GAUCHER DISEASE, TYPE III(OMIM機械翻訳)
GELEOPHYSIC DYSPLASIA(OMIM機械翻訳)
GENITOPALATOCARDIAC SYNDROME(OMIM機械翻訳)
HYDATIDIFORM MOLE(OMIM機械翻訳)
GIANT CELL HEPATITIS, NEONATAL(OMIM機械翻訳)
GIANT PLATELET SYNDROME(OMIM機械翻訳)
ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA(OMIM機械翻訳)
GLUTARICACIDURIA IIA(OMIM機械翻訳)
GLUTEAL MUSCLES, ABSENCE OF(OMIM機械翻訳)
GLYCOGEN STORAGE DISEASE I(OMIM機械翻訳)
GOMBO SYNDROME(OMIM機械翻訳)
GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS(OMIM機械翻訳)
GOODPASTURE SYNDROME(OMIM機械翻訳)
HAGEMAN FACTOR DEFICIENCY(OMIM機械翻訳)
HAIR DEFECT WITH PHOTOSENSITIVITY AND MENTAL RETARDATION(OMIM機械翻訳)
HALLERMANN-STREIFF SYNDROME; HSS(OMIM機械翻訳)
HALLUX VARUS AND PREAXIAL POLYSYNDACTYLY(OMIM機械翻訳)
HARTNUP DISORDER(OMIM機械翻訳)
HEMANGIOMATOSIS, FAMILIAL PULMONARY CAPILLARY(OMIM機械翻訳)
HEMOCHROMATOSIS; HFE(OMIM機械翻訳)
MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY(OMIM機械翻訳)
HEMOLYTIC-UREMIC SYNDROME; HUS(OMIM機械翻訳)
HEMOSIDEROSIS, PULMONARY, WITH DEFICIENCY OF GAMMA-A GLOBULIN(OMIM機械翻訳)
HERMAPHRODITISM, TRUE(OMIM機械翻訳)
HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS(OMIM機械翻訳)
HISTIDINEMIA(OMIM機械翻訳)
HOMOCYSTINURIA(OMIM機械翻訳)
HYDROCEPHALUS WITH ASSOCIATED MALFORMATIONS(OMIM機械翻訳)
HYDROCEPHALUS, TALL STATURE, JOINT LAXITY, AND KYPHOSCOLIOSIS(OMIM機械翻訳)
WALKER-WARBURG SYNDROME(OMIM機械翻訳)
HYDROLETHALUS SYNDROME(OMIM機械翻訳)
MCKUSICK-KAUFMAN SYNDROME; MKKS(OMIM機械翻訳)
UROFACIAL SYNDROME; UFS(OMIM機械翻訳)
HYDROPS FETALIS, IDIOPATHIC(OMIM機械翻訳)
HYPERAMMONEMIA DUE TO CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY(OMIM機械翻訳)
HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY(OMIM機械翻訳)
DUBIN-JOHNSON SYNDROME; DJS(OMIM機械翻訳)
HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL(OMIM機械翻訳)
HYPERLIPOPROTEINEMIA, TYPE I(OMIM機械翻訳)
PAGET DISEASE, JUVENILE(OMIM機械翻訳)
HYPERPROLINEMIA, TYPE I(OMIM機械翻訳)
HYPERPROLINEMIA, TYPE II(OMIM機械翻訳)
ACROFRONTOFACIONASAL DYSOSTOSIS, SEVERE(OMIM機械翻訳)
HYPERTELORISM, MICROTIA, FACIAL CLEFTING SYNDROME(OMIM機械翻訳)
HYPERTRICHOSIS, CONGENITAL ANTERIOR CERVICAL, WITH PERIPHERAL SENSORY AND MOTOR NEUROPATHY(OMIM機械翻訳)
HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA(OMIM機械翻訳)
HYPOADRENOCORTICISM, FAMILIAL(OMIM機械翻訳)
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I(OMIM機械翻訳)
COMMON VARIABLE IMMUNODEFICIENCY(OMIM機械翻訳)
HYPOGONADISM, DIABETES MELLITUS, ALOPECIA, MENTAL RETARDATION, AND ELECTROCARDIOGRAPHIC ABNORMALITIES(OMIM機械翻訳)
HYPOMANDIBULAR FACIOCRANIAL DYSOSTOSIS(OMIM機械翻訳)
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRD(OMIM機械翻訳)
HYPOTHALAMIC HAMARTOMAS(OMIM機械翻訳)
ICHTHYOSIFORM ERYTHRODERMA, CORNEAL INVOLVEMENT, AND DEAFNESS(OMIM機械翻訳)
ICHTHYOSIS, LAMELLAR, 1; LI1(OMIM機械翻訳)
ICHTHYOSIS CONGENITA WITH BILIARY ATRESIA(OMIM機械翻訳)
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE(OMIM機械翻訳)
ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION(OMIM機械翻訳)
IMINOGLYCINURIA(OMIM機械翻訳)
PRIMARY CILIARY DYSKINESIA; PCD(OMIM機械翻訳)
IMMOTILE CILIA SYNDROME DUE TO DEFECTIVE RADIAL SPOKES(OMIM機械翻訳)
IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA(OMIM機械翻訳)
IMMUNE DEFECT DUE TO ABSENCE OF THYMUS(OMIM機械翻訳)
IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM(OMIM機械翻訳)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME(OMIM機械翻訳)
INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE(OMIM機械翻訳)
INTESTINAL PSEUDOOBSTRUCTION WITH PATENT DUCTUS ARTERIOSUS AND NATAL TEETH(OMIM機械翻訳)
ISOVALERICACIDEMIA; IVA(OMIM機械翻訳)
JEJUNAL ATRESIA(OMIM機械翻訳)
JOB SYNDROME(OMIM機械翻訳)
JOHANSON-BLIZZARD SYNDROME; JBS(OMIM機械翻訳)
JOUBERT SYNDROME WITH BILATERAL CHORIORETINAL COLOBOMA(OMIM機械翻訳)
JUMPING FRENCHMAN OF MAINE(OMIM機械翻訳)
KALLMANN SYNDROME 3; KAL3(OMIM機械翻訳)
KAPUR-TORIELLO SYNDROME(OMIM機械翻訳)
KARTAGENER SYNDROME(OMIM機械翻訳)
KAUFMAN OCULOCEREBROFACIAL SYNDROME(OMIM機械翻訳)
KENNY-CAFFEY SYNDROME, TYPE 1; KCS(OMIM機械翻訳)
KERATOCONUS POSTICUS CIRCUMSCRIPTUS; KPC(OMIM機械翻訳)
PAPILLON-LEFEVRE SYNDROME; PALS(OMIM機械翻訳)
KETOACIDURIA WITH MENTAL DEFICIENCY AND OTHER FEATURES(OMIM機械翻訳)
KEUTEL SYNDROME(OMIM機械翻訳)
KIFAFA SEIZURE DISORDER(OMIM機械翻訳)
KNIEST-LIKE DYSPLASIA, LETHAL(OMIM機械翻訳)
KRABBE DISEASE(OMIM機械翻訳)
KOUSSEFF SYNDROME(OMIM機械翻訳)
KURU(OMIM機械翻訳)
LAMBERT SYNDROME(OMIM機械翻訳)
LAMBOTTE SYNDROME(OMIM機械翻訳)
LARON SYNDROME, TYPE II(OMIM機械翻訳)
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY(OMIM機械翻訳)
LEPRECHAUNISM(OMIM機械翻訳)
LEPROSY, SUSCEPTIBILITY TO(OMIM機械翻訳)
LETTERER-SIWE DISEASE(OMIM機械翻訳)
LIMB DEFECTS, DISTAL TRANSVERSE, WITH MENTAL RETARDATION AND SPASTICITY(OMIM機械翻訳)
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS(OMIM機械翻訳)
LYMPHEDEMA-HYPOPARATHYROIDISM SYNDROME(OMIM機械翻訳)
MACDERMOT-WINTER SYNDROME(OMIM機械翻訳)
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