Search Ontology:
Human Disease
Stickler syndrome 2
- Term ID
- DOID:0080675
- Synonyms
-
- Definition
- A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. https://pubmed.ncbi.nlm.nih.gov/15286167/
- References
- Ontology
- Human Disease ( DOID:0080675 )
- is a type of
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