Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
< 0.001 |
1 |
|
2013 |
2013 |
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.050 |
None |
1.000 |
5 |
|
2000 |
2020 |
Hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
136
|
10
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Incomplete partition of the cochlea
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
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
|
0.100 |
None |
1.000 |
21 |
|
2001 |
2020 |
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
|
0.100 |
None |
1.000 |
18 |
2
|
1997 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.070 |
None |
1.000 |
7 |
1
|
2000 |
2020 |
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
68
|
17
|
0.160 |
None |
1.000 |
6 |
|
2002 |
2011 |
Chondrodysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
71
|
1
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2017 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Multiple Epiphyseal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
7
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Achondrogenesis, type IB (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
5
|
34
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Goniodysgenesis
|
disease |
|
Congenital Abnormality
|
6
|
3
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Mondini defect
|
disease |
|
Congenital Abnormality
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2002 |
2002 |
Dilatation of the vestibular aqueduct
|
disease |
Musculoskeletal Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Preauricular Fistulae, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Thyroid Agenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
11
|
3
|
0.400 |
None |
1.000 |
1 |
|
2014 |
2014 |
Thyroid Dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Congenital Abnormality
|
24
|
5
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Pendred's syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
142
|
1.000 |
definitive |
1.000 |
234 |
139
|
1996 |
2019 |
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
10
|
81
|
0.730 |
strong |
1.000 |
88 |
78
|
1998 |
2019 |
Goiter
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
142
|
19
|
0.700 |
strong |
0.972 |
36 |
2
|
1996 |
2017 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.700 |
strong |
1.000 |
35 |
3
|
1996 |
2019 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.100 |
None |
1.000 |
31 |
|
2002 |
2019 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.700 |
strong |
1.000 |
29 |
40
|
1999 |
2018 |