Abnormal cochlea morphology
|
disease |
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the Achilles tendon
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Ankle clonus
|
phenotype |
|
Finding
|
32
|
5
|
0.100 |
None |
|
0 |
|
|
|
Ayazi syndrome
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2007 |
2007 |
Chorioretinal degeneration
|
disease |
Eye Diseases
|
Pathologic Function
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Choroideremia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
41
|
15
|
0.130 |
None |
1.000 |
3 |
|
1989 |
2000 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Conductive hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
291
|
5
|
0.110 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital abnormal shape of inner ear
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
72
|
11
|
0.050 |
None |
1.000 |
5 |
|
2009 |
2015 |
Congenital ear anomaly NOS (disorder)
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
5
|
0.050 |
None |
1.000 |
5 |
|
2009 |
2018 |
Contiguous gene syndrome
|
disease |
|
Disease or Syndrome
|
52
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Deafness, Sensorineural, Autosomal-Mitochondrial Type
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
DEAFNESS, X-LINKED 1 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Dilatated internal auditory canal
|
phenotype |
|
Finding
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|
Diverticulum
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Anatomical Abnormality
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Dysdiadochokinesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
49
|
7
|
0.100 |
None |
|
0 |
|
|
|
Gait Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
17
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.420 |
strong |
1.000 |
3 |
3
|
1995 |
2009 |
Hearing Loss, Mixed Conductive-Sensorineural
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
23
|
|
0.080 |
None |
1.000 |
8 |
|
1988 |
2020 |