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[X] autosomal genetic disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0000429

A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. [ http://ghr.nlm.nih.gov/glossary=autosomaldominant http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns DOID:0050739 ]

Synonyms: autosomal inherited disorder autosomal hereditary disorder autosomal inherited disease

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:539205 (MONDO:equivalentTo)
  • UMLS:C0265384 (MONDO:equivalentTo)
  • DOID:0050739 (MONDO:equivalentTo)
  • SCTID:1899006 (MONDO:equivalentTo)
  • ICD9:758.5 (MONDO:relatedTo)
Subsets

matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_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

exactMatch

http://identifiers.org/snomedct/1899006

http://identifiers.org/medgen/539205

http://purl.obolibrary.org/obo/DOID_0050739

http://linkedlifedata.com/resource/umls/id/C0265384

id

MONDO:0000429

Term relations

Subclass of: