Search Ontology:
Human Disease
Stickler syndrome 1
- Term ID
- DOID:0080676
- Synonyms
-
- Definition
- A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/21671392/
- References
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- MIM:108300
- ORDO:90653
- Ontology
- Human Disease ( DOID:0080676 )
- is a type of
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Genes Involved
Zebrafish Models