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[X] autosomal recessive disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0006025

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

Synonyms: autosomal recessive inherited disease autosomal recessive hereditary disease autosomal recessive hereditary disorder disease, autosomal recessive autosomal recessive inherited disorder disease or disorder, autosomal recessive autosomal recessive disease or disorder

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050737 (MONDO:equivalentTo)
  • SCTID:85995004 (MONDO:equivalentTo)
  • MEDGEN:539209 (MONDO:equivalentTo)
  • EFO:1000017 (MONDO:equivalentTo)
  • ICD9:758.5 (MONDO:relatedTo)
  • UMLS:C0265388 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_hereditary_disease

conformsTo

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0265388

http://purl.obolibrary.org/obo/DOID_0050737

http://identifiers.org/snomedct/85995004

http://identifiers.org/medgen/539209

http://www.ebi.ac.uk/efo/EFO_1000017

has related synonym

recessive hereditary disorder (autosomal)

id

MONDO:0006025

term tracker item

https://github.com/monarch-initiative/mondo/issues/8550