C0557874 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
|
Abnormality of the nervous system
|
133 |
C4707243 |
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
disease of anatomical entity
|
|
53 |
C3860213 |
Autoinflammatory disorder
|
disease |
|
Disease or Syndrome
|
|
|
35 |
C4228778 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
|
Abnormality of limbs; Abnormality of the skeletal system
|
33 |
C4521256 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
|
|
23 |
C0232466 |
Feeding difficulties
|
phenotype |
|
Finding
|
|
Abnormality of the digestive system
|
18 |
C1855710 |
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
|
Abnormality of blood and blood-forming tissues
|
18 |
C1150929 |
2-oxo-hept-3-ene-1,7-dioate hydratase activity
|
phenotype |
|
Molecular Function
|
|
|
14 |
C0369183 |
Erythrocyte Mean Corpuscular Hemoglobin Test
|
phenotype |
|
Laboratory Procedure
|
|
|
13 |
C1261502 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
|
|
13 |
C0337443 |
Sodium measurement
|
phenotype |
|
Laboratory Procedure
|
|
|
11 |
C1879645 |
Adverse Event by CTCAE Category
|
phenotype |
|
Finding
|
|
|
11 |
C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
10 |
C2919142 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
|
|
10 |
C4025871 |
Abnormality of the face
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of head or neck
|
9 |
C4087273 |
C3 glomerulopathy
|
disease |
|
Disease or Syndrome
|
|
|
9 |
C2677504 |
AUTISM, SUSCEPTIBILITY TO, 15
|
disease |
|
Finding
|
|
|
8 |
C4021790 |
Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
|
Abnormality of the skeletal system
|
8 |
C4225275 |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
|
disease |
|
Disease or Syndrome
|
genetic disease; disease of mental health
|
|
8 |
C4022738 |
Neurodevelopmental delay
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system
|
7 |
C4316870 |
Abnormality of the eye
|
phenotype |
|
Anatomical Abnormality
|
|
Abnormality of the eye
|
7 |
C1832662 |
MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
|
|
6 |
C1842364 |
Central hypotonia
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system; Abnormality of the musculature
|
6 |
C3842001 |
Adult only
|
phenotype |
|
Finding
|
|
|
6 |
C3888239 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
|
disease |
|
Finding
|
|
|
6 |