Serpentine fibula polycystic kidney syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.030 |
None |
1.000 |
3 |
|
2011 |
2014 |
Acroosteolysis dominant type
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hypoplastic 5th lumbar vertebrae
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Elongated sella turcica
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Tall lumbar vertebral bodies
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Cervical instability
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Crowded carpal bones
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Partial absence of toe
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Periocular capillary hemangioma
|
disease |
Neoplasms
|
Neoplastic Process
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Alagille Syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
3
|
0.700 |
None |
1.000 |
5 |
3
|
2006 |
2012 |
Alagille Syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
48
|
0.300 |
None |
|
0 |
|
|
|
Hepatic ductular hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Lymphoepithelioma-Like Hepatocellular Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Pancreatic symptom
|
phenotype |
|
Sign or Symptom
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Intraductal papillary-mucinous adenoma
|
disease |
Neoplasms
|
Neoplastic Process
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Foot acroosteolysis
|
phenotype |
|
Pathologic Function
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Hajdu-Cheney Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
8
|
13
|
1.000 |
None |
0.968 |
31 |
13
|
1996 |
2019 |
Spongioblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cerebral Primitive Neuroectodermal Tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Absent frontal sinuses
|
phenotype |
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Brachyonychia
|
phenotype |
|
Finding
|
11
|
2
|
0.100 |
None |
|
0 |
|
|
|
Angiomyoma
|
disease |
Neoplasms
|
Neoplastic Process
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Medulloepithelioma
|
disease |
Neoplasms
|
Neoplastic Process
|
13
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Benign neoplasm of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
|
0 |
|
|
|
Neoplasm of uncertain or unknown behavior of bladder
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
15
|
|
0.300 |
None |
|
0 |
|
|
|