Disease: Late-Onset Retinal Degeneration

Name Late-Onset Retinal Degeneration

Synonyms RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT

Classification eye, genetic

Phenotypes Adult-onset night blindness; Autosomal dominant inheritance; Blindness; Retinal degeneration; Retinopathy; Rod-cone dystrophy; Scotoma; Sub-RPE deposits; Visual loss

Associated Genes C1QTNF5 (Withdrawn symbols: CTRP5, DKFZp586B0621, LORD )

Mouse Orthologs C1qtnf5

Source OMIM:605670 (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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