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)