Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.100 |
None |
|
0 |
|
|
|
Speech Disorders
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
183
|
7
|
0.100 |
None |
|
0 |
|
|
|
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
2
|
|
|
Vestibular dysfunction
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Nodule
|
phenotype |
|
Acquired Abnormality
|
278
|
19
|
0.010 |
None |
< 0.001 |
1 |
|
2013 |
2013 |
Medullary carcinoma of thyroid
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
330
|
71
|
0.010 |
None |
< 0.001 |
1 |
|
2003 |
2003 |
Chromophobe Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
185
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Medullary carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
81
|
2
|
0.010 |
None |
< 0.001 |
1 |
|
2003 |
2003 |
Oncocytoma, renal
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
34
|
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.060 |
None |
0.500 |
6 |
|
2001 |
2019 |
Differentiated Thyroid Gland Carcinoma
|
disease |
|
Neoplastic Process
|
245
|
80
|
0.020 |
None |
0.500 |
2 |
|
2001 |
2004 |
Adenoma
|
group |
Neoplasms
|
Neoplastic Process
|
1183
|
103
|
0.030 |
None |
0.667 |
3 |
|
1999 |
2005 |
Goiter
|
phenotype |
Endocrine System Diseases
|
Disease or Syndrome
|
142
|
19
|
0.700 |
strong |
0.972 |
36 |
2
|
1996 |
2017 |
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 |
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 |
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 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
11 |
2
|
2008 |
2019 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.070 |
None |
1.000 |
7 |
1
|
2000 |
2020 |
Nodular Sclerosis Classical Hodgkin Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
66
|
22
|
0.070 |
None |
1.000 |
7 |
2
|
2010 |
2018 |
Hypothyroidism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
613
|
283
|
0.170 |
None |
1.000 |
7 |
2
|
2004 |
2018 |