Epidermolysis bullosa, lethal acantholytic

Preferred Label : Epidermolysis bullosa, lethal acantholytic;

Symbol : EBLA;

CISMeF acronym : EBLA; LAEB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : LAEB; Lethal acantholytic epidermolysis bullosa;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the desmoplakin gene (DSP, 125647.0008);

Prefixed ID : #609638;

Détails

Origin ID

609638;

UMLS CUI

C1864826;

Automatic exact mappings (from CISMeF team)
- Acantholytic epidermolysis bullosa [ICD-11 More detail]
Currated CISMeF NLP mapping
- Epidermolysis bullosa, lethal acantholytic [MeSH concept]
- Lethal acantholytic erosive disorder [ORDO Disease]
- Lethal acantholytic erosive disorder (disorder) [SNOMED CT concept]
- epidermolysis bullosa, lethal acantholytic [MeSH Supplementary Concept]
Genes related to phenotype
- Desmoplakin [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Absent fingernail [HPO term]
- Acantholysis [HPO term]
- Alopecia totalis [HPO term]
- Alopecia universalis [HPO term]
- Anonychia [HPO term]
- Aplasia cutis congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Mitten deformity [HPO term]
- Natal tooth [HPO term]
- Neonatal death [HPO term]
- Sandal gap [HPO term]
- Skin erosion [HPO term]
- Syndactyly [HPO term]
- Tapered distal phalanges of finger [HPO term]
- Widely spaced toes [HPO term]
ORDO concept(s)
- Lethal acantholytic erosive disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epidermolysis bullosa, lethal acantholytic [MeSH concept]
- Lethal acantholytic erosive disorder [ORDO Disease]
- Lethal acantholytic erosive disorder (disorder) [SNOMED CT concept]
- epidermolysis bullosa, lethal acantholytic [MeSH Supplementary Concept]

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