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 |
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 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.410 |
strong |
1.000 |
2 |
|
2017 |
2019 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.400 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Primary malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3894
|
981
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2019 |
2019 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Non-Small Cell Lung Carcinoma
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
3926
|
712
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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 |
Large forehead
|
phenotype |
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
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 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Talipes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
2
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of aortic valve
|
disease |
|
Anatomical Abnormality
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|