Terminology Service for NFDI4Health
autosomal recessive congenital ichthyosis
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http://purl.obolibrary.org/obo/MONDO_0017265
Autosomal recessive form of inherited ichthyosis. [ ]
Term info
Label
autosomal recessive congenital ichthyosis
Synonyms
- ARCI
- autosomal recessive inherited ichthyosis
- ichthyosis, congenital, autosomal recessive
- inherited ichthyosis, autosomal recessive
Subsets
disease_grouping, ordo_group_of_disorders
comment
Editor note: ORDO, PMID:20643494, PMID:23562412 classifies as non-syndromic. A previous comment said syndromic forms exist but I couldn't find evidence of that in the literature (NV).
exactMatch
http://purl.obolibrary.org/obo/DOID_0060655, https://omim.org/phenotypicSeries/PS242300, http://purl.obolibrary.org/obo/Orphanet_281097
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0017262
id
MONDO:0017265
see also
https://github.com/monarch-initiative/mondo/issues/4069
Term relations
Subclass of: