Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular

Name Stickler Syndrome, Type I, Nonsyndromic Ocular

Synonyms STICKLER SYNDROME, ATYPICAL | RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED; DRRD, INCLUDED , STICKLER SYNDROME, TYPE I, PREDOMINANTLY OCULAR

Classification bone, developmental, eye, genetic, otorhinolaryngological, sucking/swallowing, surgical maxillo-facial

Phenotypes Abnormal vitreous humor morphology; Autosomal dominant inheritance; Myopia; Rhegmatogenous retinal detachment

Associated Genes COL2A1 (Withdrawn symbols: AOM, SEDC, STL1 )

Mouse Orthologs Col2a1 (Withdrawn symbols: Col2a, Col2a-1, Dmm, Lpk, Rgsc413, Rgsc856 )

Source OMIM:609508 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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