SMALL PATELLA SYNDROME
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
21
|
15
|
0.750 |
None |
1.000 |
6 |
5
|
2004 |
2019 |
Familial primary pulmonary hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
2
|
0.500 |
strong |
1.000 |
3 |
|
2013 |
2016 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.460 |
strong |
1.000 |
7 |
|
2013 |
2020 |
Pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
413
|
70
|
0.420 |
strong |
1.000 |
3 |
|
2013 |
2016 |
Stiff-Person Syndrome
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
34
|
9
|
0.320 |
strong |
1.000 |
3 |
|
2016 |
2019 |
Familial pulmonary arterial hypertension
|
disease |
|
Disease or Syndrome
|
12
|
1
|
0.300 |
None |
1.000 |
2 |
|
2013 |
2013 |
sucrose-phosphate synthase activity
|
phenotype |
|
Molecular Function
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
2-oxo-hept-3-ene-1,7-dioate hydratase activity
|
phenotype |
|
Molecular Function
|
14
|
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Patella aplasia, coxa vara, tarsal synostosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2004 |
2004 |
CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
CHROMOSOME 17q23.1-q23.2 DUPLICATION SYNDROME
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Idiopathic pulmonary hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
161
|
5
|
0.300 |
strong |
1.000 |
1 |
|
2016 |
2016 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.150 |
None |
1.000 |
5 |
|
2010 |
2018 |
Pulmonary arterial hypertension associated with congenital heart disease
|
disease |
|
Disease or Syndrome
|
5
|
11
|
0.100 |
None |
1.000 |
1 |
3
|
2018 |
2018 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
response to bronchodilator
|
phenotype |
|
Organism Function
|
131
|
1106
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic toenails
|
phenotype |
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the lesser trochanter
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Chronic otitis media
|
disease |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
6
|
0.100 |
None |
|
0 |
|
|
|
Congenital contracture
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
31
|
3
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of femur
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
3
|
0.100 |
None |
|
0 |
|
|
|