[X] hereditary disorder of connective tissue

Go to external page http://purl.obolibrary.org/obo/MONDO_0023603


An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome. [ NCIT:C97075 ]

Synonyms: Mendelian connective tissue disorder hereditary connective tissue disorder connective tissue hereditary disorder

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:363045008 (UMLS:C0410787)
  • MEDGEN:473110 (MONDO:equivalentTo)
  • NCIT:C97075 (UMLS:C0410787)
  • UMLS:C0410787 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, harrisons_view_connective_tissue_disorder, otar, matrix_excluded, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, 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, mondo_top_grouping_connective_tissue_disorder

conformsTo

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0410787

http://identifiers.org/snomedct/363045008

http://purl.obolibrary.org/obo/NCIT_C97075

http://identifiers.org/medgen/473110

has related synonym

Hereditary Connective Tissue Disorder

inherited disorder of connective tissue

Inherited disorder of connective tissue

id

MONDO:0023603

term tracker item

https://github.com/monarch-initiative/mondo/issues/3606