Deafness, Autosomal Recessive 22
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
7
|
0.800 |
strong |
1.000 |
3 |
7
|
2012 |
2019 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.310 |
strong |
1.000 |
2 |
|
2012 |
2013 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.300 |
definitive |
1.000 |
8 |
|
2002 |
2016 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.200 |
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
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
COMPLEMENT COMPONENT 2 DEFICIENCY
|
disease |
|
Disease or Syndrome
|
11
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
38
|
4
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
von Willebrand Disease, Type 2N
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
10
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Adrenogenital Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cytochrome-c Oxidase Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
65
|
44
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
alpha 1-Antitrypsin Deficiency
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
73
|
48
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital adrenal hyperplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
87
|
36
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |