BRACHYDACTYLY, TYPE A1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
15
|
0.960 |
None |
0.900 |
10 |
8
|
2001 |
2019 |
Acrocapitofemoral Dysplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
2
|
0.710 |
None |
1.000 |
4 |
2
|
2003 |
2015 |
Disproportionate short stature
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Finding
|
86
|
6
|
0.400 |
None |
|
0 |
|
|
|
Gastrointestinal Stromal Sarcoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
74
|
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Endometrioma
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
279
|
4
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Acropectorovertebral Dysplasia, F-Form
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
strong |
1.000 |
1 |
|
2015 |
2015 |
Syndactyly, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
2
|
2
|
0.300 |
strong |
1.000 |
1 |
|
2011 |
2011 |
Ovarian Cysts
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
74
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Gastrointestinal Stromal Tumors
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
538
|
154
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Endometriosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1188
|
274
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Corpus Luteum Cyst
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.210 |
None |
1.000 |
2 |
|
2000 |
2003 |
Osteoarthrosis, localized, not specified whether primary or secondary
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
28
|
|
0.200 |
None |
1.000 |
1 |
|
2014 |
2014 |
Annular pancreas
|
disease |
Digestive System Diseases
|
Congenital Abnormality
|
19
|
1
|
0.200 |
None |
1.000 |
1 |
|
2000 |
2000 |
Brachydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
325
|
43
|
0.130 |
None |
1.000 |
3 |
|
2004 |
2010 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.120 |
None |
1.000 |
2 |
|
2010 |
2018 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
2
|
2019 |
2019 |
Disproportionate short-limb short stature
|
phenotype |
|
Finding
|
35
|
5
|
0.100 |
None |
|
0 |
|
|
|
Flared iliac wings
|
phenotype |
|
Finding
|
19
|
|
0.100 |
None |
|
0 |
|
|
|
Cone-shaped capital femoral epiphysis
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
0.100 |
None |
|
0 |
|
|
|
Short middle phalanx of finger
|
phenotype |
|
Finding
|
20
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic feet
|
phenotype |
|
Finding
|
129
|
21
|
0.100 |
None |
|
0 |
|
|
|
Relative macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
49
|
19
|
0.100 |
None |
|
0 |
|
|
|
Small finger
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|