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OBO ID: DOID:0080676
Term Name: Stickler syndrome 1 Search Ontology:
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)
OTHER Stickler syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 Stickler syndrome, type I 108300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None