MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
strong |
1.000 |
2 |
3
|
2017 |
2017 |
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
|
0.330 |
None |
1.000 |
5 |
|
1999 |
2019 |
Broad distal phalanx of finger
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal renal function
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Pathologic Function
|
12
|
6
|
0.100 |
None |
|
0 |
1
|
|
|
Elliptocytosis found
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
obsolete Abnormal heart morphology
|
phenotype |
|
Anatomical Abnormality
|
12
|
13
|
0.100 |
None |
|
0 |
2
|
|
|
Large forehead
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Microscopic hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Elliptocytosis, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
23
|
1
|
0.130 |
None |
1.000 |
3 |
|
2017 |
2019 |
Hearing Loss, Mixed Conductive-Sensorineural
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Small midface
|
phenotype |
|
Finding
|
23
|
24
|
0.100 |
None |
|
0 |
2
|
|
|
Tooth, Supernumerary
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of aortic valve
|
disease |
|
Anatomical Abnormality
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypercalciuria
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Talipes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
2
|
0.100 |
None |
|
0 |
|
|
|
Tooth Crowding
|
phenotype |
Stomatognathic Diseases
|
Finding
|
82
|
19
|
0.100 |
None |
|
0 |
|
|
|
Flat face
|
phenotype |
|
Finding
|
83
|
7
|
0.100 |
None |
|
0 |
|
|
|
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|
Thin lips
|
phenotype |
|
Finding
|
99
|
8
|
0.100 |
None |
|
0 |
|
|
|
Nephrocalcinosis
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
118
|
20
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |