Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive

Preferred Label : Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive;

Symbol : EBS2D;

Type : Phenotype, molecular basis known;

Prefixed ID : #619599;

Details

Origin ID

619599;

UMLS CUI

C5562014;

Genes related to phenotype
- Keratin 5, type II [OMIM gene]
HPO term(s)
- Abnormal blistering of the skin [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital onset [HPO term]
- Death in childhood [HPO term]
- Death in infancy [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Mitten deformity [HPO term]
- Oral mucosal blisters [HPO term]
- Pectus carinatum [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Sepsis [HPO term]
ORDO concept(s)
- Autosomal recessive generalized epidermolysis bullosa simplex [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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