Autosomal Recessive Congenital Ichthyosis 2

Preferred Label : Autosomal Recessive Congenital Ichthyosis 2;

NCIt synonyms : ARCI2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.;

Détails

Origin ID

C132827;

UMLS CUI

C3888093;

Currated CISMeF NLP mapping
- Congenital nonbullous ichthyosiform erythroderma [HPO term]
- Ichthyosis, congenital, autosomal recessive 2 [OMIM Phenotype]
- Self-Healing collodion baby [MeSH concept]
- Self-Healing collodion baby [MeSH Supplementary Concept]
- Self-improving collodion baby [ORDO Disease]
- autosomal recessive congenital ichthyosis 2 [DO Concept]
Has associated anatomic sites
- Integumentary System [NCIt concept]
See also inter- (CISMeF)
- Congenital non-bullous ichthyosiform erythroderma [ORDO Disease]
- Self-healing collodion baby [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ichthyosis, congenital, autosomal recessive 2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
- Cutaneous Involvement [NCIt concept]
disease_has_primary_anatomic_site
- Skin [NCIt concept]
disease_mapped_to_gene
- ALOX12B Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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