Chromosome 1p36 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
6
|
|
0.520 |
None |
1.000 |
7 |
|
2001 |
2012 |
Bifid ribs
|
phenotype |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Horizontal eyebrow
|
phenotype |
|
Finding
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of female external genitalia
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the anus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Annular pancreas
|
disease |
Digestive System Diseases
|
Congenital Abnormality
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the intestine
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Aneurysm of aortic arch
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
11 pairs of ribs
|
phenotype |
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of neck
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the spleen
|
disease |
|
Anatomical Abnormality
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Leg Length Inequality
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
27
|
6
|
0.100 |
None |
|
0 |
|
|
|
Macule
|
phenotype |
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Spinal canal stenosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
35
|
|
0.100 |
None |
|
0 |
|
|
|
Albinism, Ocular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
37
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital fusion of ribs
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
37
|
2
|
0.100 |
None |
|
0 |
|
|
|
Late fontanel closure
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal heart valve morphology
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Telangiectasis
|
disease |
Cardiovascular Diseases
|
Finding
|
43
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperopia, High
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Finding
|
47
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyperphagia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
3
|
0.100 |
None |
|
0 |
|
|
|
Polydactyly of toes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
61
|
2
|
0.100 |
None |
|
0 |
|
|
|
Brugada Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
66
|
201
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Pointed chin
|
phenotype |
|
Finding
|
71
|
13
|
0.100 |
None |
|
0 |
|
|
|
QT interval feature (observable entity)
|
phenotype |
|
Clinical Attribute
|
75
|
226
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |