Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
62
|
37
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Cranioschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
12
|
|
0.300 |
None |
1.000 |
1 |
|
1995 |
1995 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Sinonasal undifferentiated carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Neoplastic Process
|
11
|
8
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Deafness, Acquired
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Bilateral Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Hearing Loss, Extreme
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Sarcoma, Epithelioid
|
disease |
Neoplasms
|
Neoplastic Process
|
66
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Sarcoma, Spindle Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
46
|
2
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Neural tube defect, folate-sensitive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
2
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Spina Bifida, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Neural tube defects X-linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
6
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Diaphragmatic Hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
78
|
3
|
0.200 |
None |
1.000 |
1 |
|
2005 |
2005 |
Spina Bifida, Folate-Sensitive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.170 |
None |
1.000 |
7 |
|
1994 |
2019 |
Piebaldism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
33
|
18
|
0.120 |
None |
1.000 |
2 |
|
1991 |
1994 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.110 |
None |
1.000 |
2 |
1
|
2018 |
2020 |
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.110 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.110 |
None |
1.000 |
1 |
1
|
2016 |
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 |
1
|
2015 |
2015 |
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
68
|
17
|
0.110 |
None |
1.000 |
1 |
|
1999 |
1999 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2004 |
2004 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
565
|
20
|
0.100 |
None |
0.988 |
82 |
|
1994 |
2019 |
Childhood Rhabdomyosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
517
|
12
|
0.100 |
None |
0.986 |
72 |
|
1994 |
2019 |