EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
19
|
0.710 |
None |
1.000 |
6 |
19
|
2015 |
2017 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.120 |
None |
1.000 |
2 |
|
2015 |
2016 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.110 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Waist-Hip Ratio
|
phenotype |
|
Organism Attribute
|
565
|
1138
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Charcot-Marie-Tooth Disease, Type Ia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
42
|
24
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Irritable Bowel Syndrome
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
429
|
52
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Prostate carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4388
|
1168
|
0.100 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Widely spaced teeth
|
phenotype |
|
Finding
|
71
|
10
|
0.100 |
None |
|
0 |
1
|
|
|
Absent speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
232
|
72
|
0.100 |
None |
|
0 |
|
|
|
Labial hypoplasia
|
phenotype |
|
Finding
|
7
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
|
0 |
|
|
|
Medial flaring of the eyebrow
|
disease |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Low anterior hairline
|
phenotype |
|
Finding
|
71
|
17
|
0.100 |
None |
|
0 |
1
|
|
|
Limb hypertonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
77
|
12
|
0.100 |
None |
|
0 |
|
|
|
Gastrointestinal dysmotility
|
phenotype |
|
Finding
|
28
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Developmental regression
|
disease |
Mental Disorders
|
Disease or Syndrome
|
333
|
80
|
0.100 |
None |
|
0 |
1
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
1
|
|
|
Long face
|
phenotype |
|
Finding
|
182
|
12
|
0.100 |
None |
|
0 |
1
|
|
|
Temperature instability
|
phenotype |
|
Finding
|
12
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
1
|
|
|
Minimal subcutaneous fat
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|