Alopecia
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
491
|
375
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.300 |
disputed |
1.000 |
3 |
|
2012 |
2016 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Dyskinetic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
316
|
42
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Slurred speech
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
39
|
10
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Muscular hypotonia of the trunk
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
156
|
25
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Abnormal posture
|
phenotype |
Nervous System Diseases
|
Finding
|
13
|
7
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.300 |
None |
|
0 |
1
|
|
|
Abnormality of the dentition
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
140
|
16
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Taurodontism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Disease or Syndrome
|
40
|
10
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.100 |
None |
|
0 |
|
|
|
Peg-shaped teeth
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sagittal craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
13
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
DEAFNESS, AUTOSOMAL RECESSIVE 98
|
disease |
|
Disease or Syndrome
|
2
|
|
0.510 |
None |
1.000 |
2 |
|
2012 |
2018 |
Tooth absent
|
phenotype |
|
Finding
|
5
|
6
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Widely spaced teeth
|
phenotype |
|
Finding
|
71
|
10
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Maternal seizures
|
phenotype |
|
Finding
|
3
|
3
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.500 |
strong |
1.000 |
1 |
2
|
2016 |
2016 |
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
|
|
|