DEAFNESS, X-LINKED 4 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
6
|
0.610 |
strong |
1.000 |
4 |
6
|
1996 |
2011 |
Li-Fraumeni-Like Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
10
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Rigor - Temperature-associated observation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
24
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hearing Loss, High-Frequency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
8
|
0.100 |
None |
|
0 |
|
|
|
Angioedemas, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
54
|
7
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2018 |
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
von Willebrand Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
62
|
78
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
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
|
0.020 |
None |
1.000 |
2 |
1
|
2017 |
2019 |
Dysphonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Mental or Behavioral Dysfunction
|
77
|
4
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Progressive sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
28
|
0.100 |
None |
|
0 |
1
|
|
|
Hoarseness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
84
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.320 |
definitive |
1.000 |
7 |
|
2011 |
2020 |
Muscle Rigidity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
320
|
25
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Acute Chest Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
405
|
135
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Squamous cell carcinoma of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
458
|
92
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Precancerous Conditions
|
group |
Neoplasms
|
Neoplastic Process
|
471
|
18
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Kaposi Sarcoma
|
disease |
Neoplasms; Infections
|
Neoplastic Process
|
488
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Dermatitis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
496
|
16
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.330 |
strong |
1.000 |
4 |
|
1996 |
2017 |
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 |
|
2018 |
2018 |
Hodgkin Disease
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
900
|
148
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Leukemogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
996
|
25
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |