BRACHYDACTYLY, TYPE E1
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
5
|
3
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Malocclusion, Angle class II
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Skeletal malocclusion
|
disease |
Stomatognathic Diseases
|
Anatomical Abnormality
|
5
|
3
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
7
|
3
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pulmonary Hypertension, Primary, Fenfluramine-Associated
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
7
|
1
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Chromosome 2q37 deletion syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
9
|
|
0.680 |
None |
1.000 |
9 |
|
2009 |
2019 |
Pulmonary Hypertension, Primary, 1
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
9
|
323
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Broad columella
|
phenotype |
|
Finding
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Atrophy, Disuse
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
16
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Eating disorder symptom
|
phenotype |
Nutritional and Metabolic Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
20
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mesenchymal Glioblastoma
|
disease |
|
Neoplastic Process
|
21
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Albright's hereditary osteodystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
22
|
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2015 |
Congenital hypoplasia of femur
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
3
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Abnormal aortic morphology
|
disease |
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Pseudohypoparathyroidism, Type Ia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
30
|
20
|
0.030 |
None |
1.000 |
3 |
|
2012 |
2015 |
Familial primary pulmonary hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
2
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Tracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Malignant melanoma of skin of upper limb
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
32
|
42
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Malignant melanoma of skin of lower limb
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
32
|
42
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Acute monocytic/monoblastic leukemia
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
35
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Open Bite
|
phenotype |
Stomatognathic Diseases
|
Congenital Abnormality
|
38
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Accessory nipple
|
disease |
Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
38
|
3
|
0.100 |
None |
|
0 |
|
|
|
Activated B-cell type diffuse large B-cell lymphoma
|
disease |
|
Neoplastic Process
|
39
|
2
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Cartilaginous exostosis
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
47
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |