Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

autosomal recessive congenital ichthyosis

Synonyms

autosomal recessive inherited ichthyosis

inherited ichthyosis, autosomal recessive

ichthyosis, congenital, autosomal recessive

ARCI

Definitions

Autosomal recessive form of inherited ichthyosis.

ID

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

database_cross_reference

icd11.foundation:430849255

OMIMPS:242300

NANDO:2200991

DOID:0060655

NANDO:1200615

Orphanet:281097

GARD:21106

definition

Autosomal recessive form of inherited ichthyosis.

exactMatch

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

http://purl.obolibrary.org/obo/Orphanet_281097

https://omim.org/phenotypicSeries/PS242300

has_exact_synonym

autosomal recessive inherited ichthyosis

inherited ichthyosis, autosomal recessive

ichthyosis, congenital, autosomal recessive

ARCI

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4069

https://github.com/monarch-initiative/mondo/issues/6749

id

MONDO:0017265

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

autosomal recessive congenital ichthyosis

notation

MONDO:0017265

preferred label

autosomal recessive congenital ichthyosis

prefLabel

autosomal recessive congenital ichthyosis

subClassOf

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

excluded_subClassOf

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

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