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 |