Disease: Bullous Dystrophy, Hereditary Macular Type

Name Bullous Dystrophy, Hereditary Macular Type

Synonyms EPIDERMOLYSIS BULLOSA, MACULAR TYPE; EBM

Classification genetic, neurological, skin

Phenotypes Abnormality of the nail; Acrocyanosis; Alopecia totalis; Death in childhood; Hyperpigmentation of the skin; Intellectual disability; Microcephaly; Severe short stature; Short finger; Tapered finger; X-linked inheritance

Associated Genes -

Mouse Orthologs -

Source OMIM:302000 (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:302000 by orthology to a human gene.

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