Ichthyosis, lamellar, autosomal dominant

Preferred Label : Ichthyosis, lamellar, autosomal dominant;

Symbol : ADLI;

CISMeF acronym : ADLI;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lamellar ichthyosis, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the retroviral-like-1 aspartic peptidase gene (ASPRV1, 611765.0001);

Prefixed ID : #146750;

Détails

Origin ID

146750;

UMLS CUI

C0432304;

Broader ORDO disease(s)
- Lamellar ichthyosis [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant lamellar ichthyosis (disorder) [SNOMED CT concept]
- Lamellar ichthyosis, autosomal dominant form [MeSH concept]
- lamellar ichthyosis, autosomal dominant form [MeSH Supplementary Concept]
Genes related to phenotype
- Aspartic peptidase, retroviral-like 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congenital ichthyosis [HPO term]
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Hyperkeratosis [HPO term]
- Ichthyosis [HPO term]
- Pruritus [HPO term]
ORDO concept(s)
- Lamellar ichthyosis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant lamellar ichthyosis (disorder) [SNOMED CT concept]
- Lamellar ichthyosis, autosomal dominant form [MeSH concept]
- lamellar ichthyosis, autosomal dominant form [MeSH Supplementary Concept]

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