[X] inborn disorder of energy metabolism

Go to external page http://purl.obolibrary.org/obo/MONDO_0019243


An inherited metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy. [ MONDO:patterns/inborn_metabolic ]

Synonyms: inborn error of generation of precursor metabolites and energy rare inborn error of generation of precursor metabolites and energy inborn generation of precursor metabolites and energy disorder

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:79200 (MONDO:equivalentTo)
  • UMLS:C5681282 (MONDO:equivalentTo)
  • GARD:18972 (MONDO:GARD)
  • MEDGEN:1842265 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, matrix_llm__tag_qualy_lost_other, disease_grouping, 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_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, harrisons_view_member, harrisons_view_hereditary_disease, ordo_group_of_disorders, harrisons_view_metabolic_disease

conformsTo

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

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

exactMatch

http://identifiers.org/medgen/1842265

http://linkedlifedata.com/resource/umls/id/C5681282

http://www.orpha.net/ORDO/Orphanet_79200

has related synonym

disorder of energy metabolism

id

MONDO:0019243