Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
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
|
|
|
Hearing Loss, High-Frequency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
8
|
0.100 |
None |
|
0 |
|
|
|
X-linked dominant inheritance
|
phenotype |
|
Finding
|
65
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
Leukemogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
996
|
25
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Kaposi Sarcoma
|
disease |
Neoplasms; Infections
|
Neoplastic Process
|
488
|
15
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
3197
|
186
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Rigor - Temperature-associated observation
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
24
|
|
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 |
Mammary Neoplasms
|
group |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
2780
|
385
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Squamous cell carcinoma of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
458
|
92
|
0.010 |
None |
1.000 |
1 |
|
2019 |
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 |
Childhood Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
1740
|
140
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Precancerous Conditions
|
group |
Neoplasms
|
Neoplastic Process
|
471
|
18
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
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 |
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 |
Malignant neoplasm of skin
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
508
|
38
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
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 |
Glioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3177
|
281
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
Hodgkin Disease
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
900
|
148
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |