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Metadata
ID DOID:0080676
Name Stickler syndrome 1
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/
Xrefs

OMIM:108300

ORDO:90653

Subsets

DO_rare_slim

Parent Relationships

is_a Stickler syndrome

is_a autosomal dominant disease

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