SPONDYLOCOSTAL DYSOSTOSIS 5
|
disease |
|
Disease or Syndrome
|
5
|
13
|
0.100 |
None |
|
0 |
4
|
|
|
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
4
|
3
|
0.600 |
strong |
1.000 |
2 |
3
|
2008 |
2010 |
Jarcho-Levin syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
12
|
14
|
0.440 |
limited |
1.000 |
4 |
1
|
2008 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Anemia, Sickle Cell
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
434
|
138
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2010 |
Renal carnitine transport defect
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
59
|
123
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2010 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.010 |
None |
< 0.001 |
1 |
|
2010 |
2010 |
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
16
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Dextrocardia with situs inversus
|
disease |
|
Congenital Abnormality
|
3
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
6
|
3
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dextrocardia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
30
|
6
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Malignant Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
8621
|
1641
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Dysostoses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Block vertebrae
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Situs inversus totalis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
104
|
8
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ureter
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Abnormal form of the vertebral bodies
|
phenotype |
|
Finding
|
89
|
|
0.100 |
None |
|
0 |
|
|
|
Pulmonary Venous Return Anomaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Restrictive deficit on pulmonary function testing
|
phenotype |
Respiratory Tract Diseases
|
Disease or Syndrome
|
16
|
6
|
0.100 |
None |
|
0 |
|
|
|
Broad forehead
|
phenotype |
|
Finding
|
133
|
13
|
0.100 |
None |
|
0 |
|
|
|