Abnormal blistering of the skin
|
phenotype |
|
Finding
|
75
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital ear anomaly NOS (disorder)
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
5
|
0.100 |
None |
|
0 |
|
|
|
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
|
disease |
|
Neoplastic Process
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Telangiectasia macularis eruptiva perstans
|
disease |
Neoplasms; Skin and Connective Tissue Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1
|
|
0.400 |
None |
|
0 |
|
|
|
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
|
disease |
|
Finding
|
1
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Thick skin
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Irregular hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
55
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.100 |
None |
|
0 |
|
|
|
Nasal bridge wide
|
phenotype |
|
Finding
|
429
|
29
|
0.100 |
None |
|
0 |
|
|
|
Freckles
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
45
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Male Germ Cell Tumor
|
disease |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
5
|
|
0.300 |
None |
|
0 |
|
|
|
Gonadal Dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
53
|
6
|
0.100 |
None |
|
0 |
|
|
|
Headache
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
338
|
75
|
0.100 |
None |
|
0 |
|
|
|
Isolated cases
|
phenotype |
|
Finding
|
111
|
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Myelodysplasia, CTCAE
|
phenotype |
|
Finding
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Abdominal Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
302
|
18
|
0.100 |
None |
|
0 |
|
|
|
Hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
73
|
11
|
0.100 |
None |
|
0 |
|
|
|
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.300 |
None |
|
0 |
|
|
|
Anemia, Macrocytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
51
|
2
|
0.200 |
None |
|
0 |
|
|
|
Erythema
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
227
|
8
|
0.100 |
None |
|
0 |
|
|
|
Heterochromia iridis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
|
Finding
|
17
|
10
|
0.100 |
None |
|
0 |
|
|
|