01
Diseases
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
bile acid synthesis defect, congenital, 5
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 12
Basic Information
Grouped by core information, identifiers, and descriptions.
Current candidates are inferred from disease-target-ingredient-herb paths and do not represent a formal recommendation ranking.
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
Direct relations and traceable candidates grouped by relation type.
Candidate Ingredients
target disease -> ingredient target3 Ingredients