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Genes Phenotypes Help, News, Blog

Disease: Autosomal Recessive Stickler Syndrome

Name
Autosomal Recessive Stickler Syndrome
Synonmys
-
Classification
bone, developmental, eye, genetic, otorhinolaryngological, surgical maxillo-facial
Associated Genes
COL9A2 (Withdrawn symbols: EDM2, MED ) , COL9A1 , COL11A1 (Withdrawn symbols: CO11A1, COLL6, DFNA37, STL2 ) , LOXL3 , COL9A3 (Withdrawn symbols: DJ885L7.4.1, EDM3, FLJ90759, IDD, MED )
Mouse Orthologs
Col9a2 (Withdrawn symbols: AI427499, Col9a-2 ) , Col9a1 (Withdrawn symbols: Col9a-1 ) , Col11a1 (Withdrawn symbols: C530001D20Rik, cho ) , Loxl3 , Col9a3 (Withdrawn symbols: AV006866 )
Source
ORPHA:250984 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models

Learn about how to interpret our results in the Disease Models Help pages

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