BioAssay Ontology

Last uploaded: February 21, 2024
Preferred Name

autosomal recessive congenital ichthyosis

Synonyms

lamellar ichthyosis

ARCI

non bullous congenital ichthyosiform erythroderma

Definitions

An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.

ID

http://purl.obolibrary.org/obo/DOID_0060655

database_cross_reference

ICD10CM:Q80.2

OMIM:PS242300

SNOMEDCT_US_2020_03_01:12215009

MESH:D017490

UMLS_CUI:C0079154

ORDO:281097

NCI:C84805

has exact synonym

lamellar ichthyosis

ARCI

non bullous congenital ichthyosiform erythroderma

has_alternative_id

DOID:1699

has_obo_namespace

disease_ontology

id

DOID:0060655

imported from

http://purl.obolibrary.org/obo/doid.owl

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

autosomal recessive congenital ichthyosis

notation

DOID:0060655

prefLabel

autosomal recessive congenital ichthyosis

textual definition

An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.

subClassOf

http://purl.obolibrary.org/obo/DOID_1697

http://purl.obolibrary.org/obo/DOID_0080015

http://purl.obolibrary.org/obo/DOID_0050737

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The BioAssay Ontology integrates with OntoloBridge, allowing community users to suggest additions to the public ontology. Complete the template below to submit a term request directly to the ontology maintainer.

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Example: Involves the use of a tissue derived from a living organism and is a heterogeneous assay type.

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