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 |
|
|
|
Numerous pigmented freckles
|
phenotype |
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Menorrhagia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
34
|
6
|
0.100 |
None |
|
0 |
|
|
|
Giant Platelet Count (procedure)
|
phenotype |
|
Laboratory Procedure
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal platelet function
|
phenotype |
|
Finding
|
21
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal platelet morphology
|
phenotype |
|
Finding
|
10
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
HEMANGIOMA, CAPILLARY INFANTILE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms
|
Disease or Syndrome
|
7
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Increased mean platelet volume
|
phenotype |
|
Finding
|
10
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Hypermelanotic macule
|
phenotype |
|
Finding
|
59
|
2
|
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 |
|
|
|
Epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
82
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
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
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Prolonged bleeding time
|
phenotype |
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Abnormal thrombosis
|
disease |
|
Anatomical Abnormality
|
13
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal platelet shape
|
disease |
|
Anatomical Abnormality
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Neutrophil inclusion bodies
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Giant platelet (morphologic abnormality)
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Spontaneous, recurrent epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
11
|
1
|
0.100 |
None |
|
0 |
|
|
|
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Dysmorphic facies
|
phenotype |
|
Finding
|
271
|
106
|
0.100 |
None |
|
0 |
1
|
|
|
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.400 |
strong |
1.000 |
1 |
|
2012 |
2012 |
Leukocyte inclusion bodies
|
phenotype |
|
Finding
|
1
|
|
0.400 |
strong |
1.000 |
1 |
|
2012 |
2012 |