Avascular Necrosis, CTCAE
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of coagulation
|
phenotype |
|
Finding
|
59
|
15
|
0.100 |
None |
|
0 |
|
|
|
Hypermelanotic macule
|
phenotype |
|
Finding
|
59
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
hypopigmented skin patch
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
123
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nail dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
78
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Neutrophil abnormality
|
phenotype |
|
Finding
|
74
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Skin Vesicle
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Cerebral calcification
|
phenotype |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Finding
|
103
|
8
|
0.100 |
None |
|
0 |
|
|
|
Taurodontism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
40
|
10
|
0.100 |
None |
|
0 |
|
|
|
Premature canities
|
phenotype |
|
Finding
|
33
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the maxilla
|
disease |
|
Congenital Abnormality
|
113
|
5
|
0.100 |
None |
|
0 |
|
|
|
White hair
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Cellular immunodeficiency
|
phenotype |
Immune System Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
0.100 |
None |
|
0 |
|
|
|
Aplastic/hypoplastic toenail
|
phenotype |
|
Finding
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of female internal genitalia
|
disease |
|
Anatomical Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the pharynx
|
disease |
|
Anatomical Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the skin
|
phenotype |
|
Finding
|
29
|
|
0.100 |
None |
|
0 |
|
|
|