01
Diseases
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
bile acid synthesis defect, congenital, 5
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
- Standard Disease Name
- bile acid synthesis defect, congenital, 5
- MeSH Tree
- No data
- ICD-10
- Q87.1
Identifiers
- DO ID
- No data
- MeSH ID
- C536456
- OMIM ID
- 304110
- UMLS ID
- C0220767
- HPO ID
- No data
Description and Extensions
- Description
- Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad groove
Related
Related Entities
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Related Targets
target disease1 Targets