01
Diseases
Autosomal Recessive Stickler Syndrome
autosomal recessive stickler syndrome
- Entity Type
- Diseases
- Relation Groups
- 3
- Relation Preview
- 17
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
- Autosomal Recessive Stickler Syndrome
- Standard Disease Name
- autosomal recessive stickler syndrome
- MeSH Tree
- No data
- ICD-10
- Q87.5
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 614134|614284
- UMLS ID
- No data
- HPO ID
- No data
Description and Extensions
- Description
- Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited for
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.