BRACHYDACTYLY, TYPE A2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
6
|
8
|
0.760 |
None |
0.875 |
8 |
6
|
2003 |
2014 |
BRACHYDACTYLY, TYPE A1, D
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
strong |
1.000 |
1 |
3
|
2015 |
2015 |
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.600 |
None |
1.000 |
3 |
5
|
2005 |
2015 |
Brachydactyly type C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
19
|
8
|
0.410 |
None |
1.000 |
1 |
2
|
2006 |
2006 |
Diverticular Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
83
|
88
|
0.400 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Fibular hypoplasia and complex brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
4
|
0.400 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Acromesomelic dysplasia Hunter-Thompson type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
5
|
|
0.340 |
None |
1.000 |
4 |
|
2015 |
2018 |
Idiopathic pulmonary hypertension
|
disease |
Respiratory Tract Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
161
|
5
|
0.320 |
limited |
1.000 |
2 |
1
|
2004 |
2012 |
Idiopathic pulmonary arterial hypertension
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
776
|
24
|
0.320 |
limited |
1.000 |
2 |
|
2004 |
2012 |
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.310 |
moderate |
1.000 |
2 |
|
2005 |
2020 |
Prostatic Neoplasms
|
group |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
1722
|
31
|
0.310 |
None |
1.000 |
2 |
|
2007 |
2007 |
Chondrodysplasia, Grebe type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
4
|
3
|
0.310 |
None |
1.000 |
2 |
1
|
2014 |
2015 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.310 |
None |
1.000 |
2 |
1
|
2007 |
2012 |
BRACHYDACTYLY, TYPE A1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
15
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Brachydactyly syndrome type C
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Bone Diseases, Developmental
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
82
|
2
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Diverticular Bleeding
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Chondrodysplasia, acromesomelic, with genital anomalies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Eye Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
55
|
3
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.300 |
None |
|
0 |
|
|
|
Gastric Adenocarcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
453
|
235
|
0.300 |
None |
|
0 |
1
|
|
|
Metastatic melanoma
|
disease |
Neoplasms
|
Neoplastic Process
|
504
|
42
|
0.300 |
None |
|
0 |
|
|
|
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.130 |
None |
1.000 |
3 |
1
|
2015 |
2018 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
2 |
2
|
2018 |
2019 |