Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Elastosis perforans serpiginosa
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
66
|
4
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2009 |
Keloid
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Acquired Abnormality
|
165
|
15
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
82
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Spontaneous, recurrent epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Obesity
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2821
|
1111
|
0.100 |
None |
|
0 |
1
|
|
|
SEBASTIAN SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
42
|
13
|
1.000 |
definitive |
0.984 |
61 |
13
|
1998 |
2019 |
DEAFNESS, AUTOSOMAL DOMINANT 17
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
2
|
0.710 |
None |
1.000 |
11 |
2
|
1998 |
2016 |
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.490 |
strong |
0.900 |
10 |
6
|
2000 |
2019 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.040 |
None |
1.000 |
4 |
1
|
2000 |
2019 |
Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
62
|
37
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Progressive sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
28
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.010 |
None |
< 0.001 |
1 |
|
2009 |
2009 |
Hearing Loss, High-Frequency
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
35
|
8
|
0.100 |
None |
|
0 |
|
|
|
Deafness, autosomal dominant nonsyndromic sensorineural 17
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.080 |
None |
1.000 |
8 |
|
2011 |
2019 |
Secondary malignant neoplasm of lymph node
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
2825
|
188
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2019 |
Neoplasm Invasiveness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Pathologic Function
|
193
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Acute leukemia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
639
|
50
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Secondary Neoplasm
|
group |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
2492
|
85
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Immune thrombocytopenic purpura
|
disease |
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
338
|
35
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
May-Hegglin anomaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
19
|
1.000 |
definitive |
1.000 |
44 |
17
|
1998 |
2020 |
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2019 |
Hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
235
|
31
|
0.310 |
strong |
1.000 |
1 |
|
2012 |
2012 |