Moderate sensorineural hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
34
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Cystic renal dysplasia
|
disease |
|
Anatomical Abnormality
|
12
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Muscle Weakness Lower Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
74
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Lower limb amyotrophy
|
phenotype |
|
Finding
|
19
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
Enlarged kidney
|
phenotype |
|
Finding
|
27
|
2
|
0.100 |
None |
|
0 |
1
|
|
|
Cardiomyopathy, Hypertrophic, Familial
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
83
|
355
|
0.200 |
None |
|
0 |
|
|
|
Colon diverticulum anatomic structure
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
1
|
|
|
Hypertrophic Cardiomyopathy
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
560
|
635
|
0.200 |
None |
|
0 |
|
|
|
Contracture of tendo achilles
|
disease |
|
Anatomical Abnormality
|
32
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Dilatation of the cerebral artery
|
phenotype |
Nervous System Diseases; Cardiovascular Diseases
|
Anatomical Abnormality
|
26
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Hypertension, Renovascular
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
78
|
8
|
0.100 |
None |
|
0 |
1
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.300 |
limited |
|
0 |
|
|
|
Multicystic Dysplastic Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
121
|
11
|
0.100 |
None |
|
0 |
2
|
|
|
Hemangioma
|
disease |
Neoplasms
|
Neoplastic Process
|
256
|
24
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital anomaly of the kidney
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
63
|
4
|
0.100 |
None |
|
0 |
1
|
|
|
3-4 toe syndactyly
|
phenotype |
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.010 |
None |
1.000 |
1 |
|
1989 |
1989 |
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.120 |
None |
1.000 |
2 |
1
|
1990 |
1992 |
melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
3087
|
515
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Caroli Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Congenital hypoplasia of lung
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
175
|
6
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Papilloma
|
disease |
Neoplasms
|
Neoplastic Process
|
273
|
27
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.020 |
None |
1.000 |
2 |
|
1999 |
1999 |