Disease: Brittle Cornea Syndrome 2

Name Brittle Cornea Syndrome 2

Synonyms -

Classification developmental, eye, genetic, skin, systemic and rheumatological

Phenotypes Autosomal recessive inheritance; Blue sclerae; Flat cornea; Gait disturbance; Hearing impairment; Inguinal hernia; Joint hypermobility; Keratoconus; Keratoglobus; Megalocornea; Myalgia; Myopia; Recurrent fractures; Sclerocornea; Umbilical hernia

Associated Genes PRDM5 (Withdrawn symbols: PFM2 )

Mouse Orthologs Prdm5 (Withdrawn symbols: 4432417F03Rik, 6530401I24Rik, AI197291, E130112L17Rik )

Source OMIM:614170 (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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