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autosomal recessive congenital ichthyosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0017265

Autosomal recessive form of inherited ichthyosis. [ MONDO:patterns/autosomal_recessive ]

Synonyms: ichthyosis, congenital, autosomal recessive autosomal recessive inherited ichthyosis ARCI inherited ichthyosis, autosomal recessive

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C1274215 (MONDO:equivalentTo)
  • DOID:0060655 (MONDO:equivalentTo)
  • NANDO:1200615 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:281097 (MONDO:equivalentTo)
  • icd11.foundation:430849255 (Orphanet:281097)
  • NANDO:2200991 (https://orcid.org/0000-0003-0011-764X)
  • GARD:21106 (MONDO:GARD)
  • MEDGEN:697564 (MONDO:equivalentTo)
  • OMIMPS:242300 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

IAO 0000233

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

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

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

http://identifiers.org/medgen/697564

http://linkedlifedata.com/resource/umls/id/C1274215

https://omim.org/phenotypicSeries/PS242300

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

excluded subClassOf

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

id

MONDO:0017265

Term relations

Subclass of: