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

• OMIM:108300
• ORDO:90653

Ontology

Human Disease   ( DOID:0080676 )