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[X] 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 inherited ichthyosis, autosomal recessive ARCI

This is just here as a test because I lose it

Term information

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

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, disease_grouping, mondo_top_grouping_integumentary_system_disorder, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, nord_rare, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_integumentary_system_disorder

abbreviation
ARCI [ DOID:0060655 Orphanet:281097 http://www.ncbi.nlm.nih.gov/pubmed/20643494 ]

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).

conformsTo

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

exactMatch

http://identifiers.org/medgen/697564

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

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

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/430849255

https://omim.org/phenotypicSeries/PS242300

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

excluded subClassOf

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

id

MONDO:0017265

should conform to

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

term tracker item

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

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

Term relations