Source: CLINGEN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 23
C1112155 Hereditary non-polyposis colorectal cancer syndrome disease Congenital Abnormality genetic disease 21
C1848639 USHER SYNDROME, TYPE IA, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C1848640 USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY disease Disease or Syndrome genetic disease; syndrome 5
C0272170 Shwachman syndrome disease Disease or Syndrome syndrome 1
C1291607 Deficiency of maleylacetoacetate isomerase disease Disease or Syndrome 1
C1533587 Hydroxymethylglutaric aciduria disease Disease or Syndrome 1
C1836892 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 disease Finding 1
C1837315 COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 disease Finding 1
C1856058 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY disease Disease or Syndrome genetic disease; disease of metabolism 1
C2675520 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 disease Finding 1
C2675521 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 phenotype Finding 1
C2675522 OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 phenotype Finding 1
C2676676 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 disease Finding 1
C2676677 BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 phenotype Finding 1
C2676678 OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 phenotype Finding 1
C2677491 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 disease Disease or Syndrome disease of anatomical entity 1
C2751681 NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 disease Finding 1
C2829267 DEAFNESS, AUTOSOMAL RECESSIVE 88 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C3149117 GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE disease Disease or Syndrome 1
C3150653 FANCONI ANEMIA, COMPLEMENTATION GROUP O disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C3150923 MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES disease Disease or Syndrome 1
C3151087 LOEYS-DIETZ SYNDROME 3 disease Disease or Syndrome genetic disease 1
C3151264 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17 disease Disease or Syndrome disease of anatomical entity 1
C3151267 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 disease Disease or Syndrome disease of anatomical entity 1