01
B4galnt2
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- CAMPOMELIC DYSPLASIA
- Standard Disease Name
- campomelic dysplasia
- MeSH Tree
- No data
- ICD-10
- Q87.1
Identifiers
- DO ID
- No data
- MeSH ID
- D055036
- OMIM ID
- 114290|211990|602196
- UMLS ID
- C1861922|C3549544|C1861923|C1842462
- HPO ID
- No data
Description and Extensions
- Description
- Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead o