11 pairs of ribs
|
phenotype |
|
Finding
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormal blistering of the skin
|
phenotype |
|
Finding
|
75
|
10
|
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 |
|
|
|
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 |
|
|
|
Abnormality of the intestine
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the spleen
|
disease |
|
Anatomical Abnormality
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Agenesis of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
615
|
45
|
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 |
|
|
|
Aneurysm of aortic arch
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Annular pancreas
|
disease |
Digestive System Diseases
|
Congenital Abnormality
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Atrial Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
939
|
584
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
CUI: |
C0236018 |
Disease: |
Aura
|
Aura
|
phenotype |
Nervous System Diseases
|
Finding
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.100 |
None |
|
0 |
|
|
|
Awakening Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
83
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Bifid ribs
|
phenotype |
|
Anatomical Abnormality
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.100 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
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 |
Cardiomyopathy, Dilated
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
512
|
509
|
0.100 |
None |
|
0 |
|
|
|
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Cerebral cortical atrophy
|
disease |
|
Disease or Syndrome
|
271
|
13
|
0.100 |
None |
|
0 |
|
|
|
Cerebral ventriculomegaly
|
phenotype |
Nervous System Diseases
|
Finding
|
410
|
|
0.100 |
None |
|
0 |
|
|
|
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 |