C0349588 |
Short stature
|
phenotype |
|
Finding
|
|
Growth abnormality
|
190 |
292 |
C4551563 |
Microcephaly (physical finding)
|
phenotype |
|
Finding
|
|
Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
|
160 |
246 |
C0423224 |
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
|
Abnormality of the eye
|
28 |
54 |
C0038002 |
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
|
Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system
|
14 |
19 |
C0002874 |
Aplastic Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
disease of anatomical entity
|
Abnormality of blood and blood-forming tissues
|
5 |
8 |
C0457756 |
Tooth absent
|
phenotype |
|
Finding
|
|
Abnormality of head or neck
|
5 |
6 |
C4692625 |
SHWACHMAN-DIAMOND SYNDROME 1
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
3 |
8 |
C2684859 |
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
|
disease |
|
Finding
|
disease of anatomical entity
|
|
3 |
2 |
C0272170 |
Shwachman syndrome
|
disease |
|
Disease or Syndrome
|
syndrome
|
|
2 |
8 |