Cleft anterior mitral valve leaflet
|
phenotype |
|
Anatomical Abnormality
|
2
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Aplasia/Hypoplasia of the nails
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
14
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Spina Bifida Cystica
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
21
|
5
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Umbilical hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
27
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Acid reflux
|
phenotype |
|
Finding
|
50
|
58
|
0.100 |
None |
|
0 |
1
|
|
|
Torticollis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
55
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Colon adenoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
63
|
1
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Acquired aplastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
64
|
12
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Broad thumbs
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Syncope
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
119
|
45
|
0.100 |
None |
|
0 |
1
|
|
|
Recurrent otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
120
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Broad nasal tip
|
phenotype |
|
Finding
|
125
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
1
|
|
|
Hernia, Inguinal
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
225
|
21
|
0.100 |
None |
|
0 |
1
|
|
|
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.100 |
None |
|
0 |
1
|
|
|
Adult Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
509
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Childhood Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
12
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
1
|
|
|
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Acute Promyelocytic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
651
|
21
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
1543
|
348
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Cervix carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1881
|
283
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Squamous cell carcinoma of esophagus
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
2053
|
329
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |