Disease: Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly

Name Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly

Synonyms BORK SYNDROME

Classification developmental, eye, genetic, skin

Phenotypes Autosomal dominant inheritance; Brachydactyly; Hypospadias; Increased number of teeth; Juvenile cataract; Microdontia; Oligodontia; Pili canaliculi; Rod-cone dystrophy; Short metacarpal; Short proximal phalanx of finger; Short toe; Uncombable hair

Associated Genes -

Mouse Orthologs -

Source OMIM:191482 (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

No mouse models associated with OMIM:191482 by orthology to a human gene.

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