C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
133 |
505 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
53 |
442 |
C3860213 |
Autoinflammatory disorder
|
disease |
|
Disease or Syndrome
|
|
|
35 |
0 |
C4228778 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
33 |
0 |
C1112155 |
Hereditary non-polyposis colorectal cancer syndrome
|
disease |
|
Congenital Abnormality
|
genetic disease
|
|
27 |
0 |
C4521256 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
|
|
23 |
0 |
C0232466 |
Feeding difficulties
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
18 |
62 |
C1855710 |
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
|
Abnormality of blood and blood-forming tissues
|
18 |
5 |
C1150929 |
2-oxo-hept-3-ene-1,7-dioate hydratase activity
|
phenotype |
|
Molecular Function
|
|
|
14 |
0 |
C0369183 |
Erythrocyte Mean Corpuscular Hemoglobin Test
|
phenotype |
|
Laboratory Procedure
|
|
|
13 |
0 |
C1261502 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
|
|
13 |
1206 |
C1861063 |
TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding)
|
phenotype |
|
Finding
|
|
|
12 |
0 |
C3160718 |
PARKINSON DISEASE, LATE-ONSET
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
12 |
29 |
C4082304 |
Oligodontia
|
disease |
|
Congenital Abnormality
|
disease of anatomical entity
|
Abnormality of head or neck
|
12 |
16 |
C0337443 |
Sodium measurement
|
phenotype |
|
Laboratory Procedure
|
|
|
11 |
69 |
C1879645 |
Adverse Event by CTCAE Category
|
phenotype |
|
Finding
|
|
|
11 |
0 |
C3496069 |
cocaine use
|
disease |
|
Mental or Behavioral Dysfunction
|
|
|
11 |
0 |
C4510744 |
46,XY partial gonadal dysgenesis
|
disease |
|
Disease or Syndrome
|
|
|
11 |
0 |
C0268363 |
Osteogenesis imperfecta type IV (disorder)
|
disease |
|
Disease or Syndrome; Congenital Abnormality
|
genetic disease; disease of anatomical entity
|
|
10 |
59 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
10 |
292 |
C1834752 |
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding)
|
disease |
|
Finding
|
|
|
10 |
3 |
C1868683 |
B-CELL MALIGNANCY, LOW-GRADE
|
disease |
|
Neoplastic Process
|
disease of anatomical entity; disease of cellular proliferation
|
|
10 |
0 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
10 |
0 |
C1167664 |
Situs ambiguous
|
disease |
|
Congenital Abnormality
|
|
|
9 |
0 |
C3266101 |
22q11 partial monosomy syndrome
|
disease |
|
Disease or Syndrome
|
|
|
9 |
0 |