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
Ontology
Human Disease   ( DOID:0080676 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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