Short toe
|
phenotype |
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
Recurrent opportunistic infections
|
phenotype |
Infections
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Valve Insufficiency
|
phenotype |
Cardiovascular Diseases
|
Pathologic Function
|
22
|
2
|
0.100 |
None |
|
0 |
|
|
|
Thick skin
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Growth arrest lines
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
B-Cell Lymphomas
|
group |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1408
|
42
|
0.100 |
None |
|
0 |
|
|
|
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Anti-thyroid peroxidase antibody positivity
|
phenotype |
|
Laboratory or Test Result
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0013604 |
Disease: |
Edema
|
Edema
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
126
|
1
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the eyebrow
|
phenotype |
|
Finding
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced red cell adenosine deaminase activity
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
T-Lymphocytopenia
|
disease |
Immune System Diseases; Hemic and Lymphatic Diseases
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0015967 |
Disease: |
Fever
|
Fever
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1021
|
66
|
0.100 |
None |
|
0 |
|
|
|
Diarrhea
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
632
|
63
|
0.100 |
None |
|
0 |
|
|
|
Eosinophilia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
325
|
23
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of pelvic girdle bone morphology
|
disease |
|
Anatomical Abnormality
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.100 |
None |
|
0 |
|
|
|
Autoimmune state
|
phenotype |
|
Pathologic Function
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Dry Skin, CTCAE
|
phenotype |
|
Finding
|
137
|
|
0.100 |
None |
|
0 |
|
|
|
Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Inflammatory dermatosis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
382
|
6
|
0.100 |
None |
|
0 |
|
|
|
Exfoliative dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
64
|
2
|
0.100 |
None |
|
0 |
|
|
|
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.090 |
None |
1.000 |
9 |
|
2009 |
2019 |