Stickler syndrome 1

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Echinobase

Summary

Literature (0)

DOID:0080676 - Stickler syndrome 1

Disease Ontology Definition:A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.

Synonyms:

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: col2a1

MIM:

MIM:108300 - stickler syndrome, type i; stl1

MIM:108300 - stickler syndrome, type i; stl1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Stickler syndrome (is_a)