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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