[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
Term information
- Orphanet:79200 (MONDO:equivalentTo)
- UMLS:C5681282 (MONDO:equivalentTo)
- GARD:18972 (MONDO:GARD)
- MEDGEN:1842265 (MONDO:equivalentTo)
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
http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic.yaml
http://purl.obolibrary.org/obo/mondo/patterns/inborn_metabolic_disrupts.yaml
http://identifiers.org/medgen/1842265
http://linkedlifedata.com/resource/umls/id/C5681282
http://www.orpha.net/ORDO/Orphanet_79200