Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
Preferred Name

autosomal recessive congenital ichthyosis
Synonyms

inherited ichthyosis, autosomal recessive

ichthyosis, congenital, autosomal recessive

autosomal recessive inherited ichthyosis

ARCI

Definitions

Autosomal recessive form of inherited ichthyosis. Editor note: ORDO classifies as non-syndromic but syndromic forms exist

ID

http://purl.obolibrary.org/obo/MONDO_0017265

comment

Editor note: ORDO classifies as non-syndromic but syndromic forms exist

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/autosomal_recessive.yaml

database_cross_reference

Orphanet:281097

OMIMPS:242300

DOID:0060655

exactMatch

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

http://www.orpha.net/ORDO/Orphanet_281097

has exact synonym

inherited ichthyosis, autosomal recessive

ichthyosis, congenital, autosomal recessive

autosomal recessive inherited ichthyosis

ARCI

id

MONDO:0017265

imported from

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

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_group_of_disorders

label

autosomal recessive congenital ichthyosis

notation

MONDO:0017265

prefLabel

autosomal recessive congenital ichthyosis

should_conform_to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

textual definition

Autosomal recessive form of inherited ichthyosis.

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0017262

subClassOf

http://purl.obolibrary.org/obo/MONDO_0015947

http://purl.obolibrary.org/obo/MONDO_0006025

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