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Core Information
Disease Name
Hereditary Macular Epidermolysis Bullosa
Standard Disease Name
hereditary macular epidermolysis bullosa
MeSH Tree
No data
ICD-10
No data
Identifiers
DO ID
No data
MeSH ID
C563065
OMIM ID
302000
UMLS ID
C0795974
HPO ID
No data
Description and Extensions
Description
JABL99:A skin disease characterized by formation of bullae without evidence of trauma, hyperpigmentation or hypopigmentation and acrocyanosis in association with microcephaly, subnormal growth and mental development, short tapering fingers, and occasionally deformed nails.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.