[X] lysosomal lipid storage disorder
Go to external page http://purl.obolibrary.org/obo/MONDO_0019245
An inherited metabolic disorder in which harmful amounts of lipids accumulate in cells and tissues. Because of a functionally impaired hydrolase or auxiliary protein, their lipid substrates cannot be degraded, accumulate in the lysosome, and slowly spread to other intracellular membranes. [ http://www.ncbi.nlm.nih.gov/pubmed/21502308 http://en.wikipedia.org/wiki/Lipid_storage_disorder ]
Synonyms: lipid storage disease inborn lipid storage disorder lipoid storage diseas lipoid storage disorder lipoid storage disease rare inborn error of lipid storage inborn error of lipid storage
Term information
- UMLS:C0023794 (MONDO:equivalentTo)
- SCTID:10741005 (MONDO:equivalentTo)
- ICD9:272.7 (MONDO:i2s)
- MEDGEN:9780 (MONDO:equivalentTo)
- DOID:9455 (MONDO:equivalentTo)
- GARD:12511 (MONDO:GARD)
- ICD9:272.8 (DOID:9455)
- MESH:D008064 (MONDO:equivalentTo)
- Orphanet:79204 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_excluded, disease_grouping, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_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/mesh/D008064
http://www.orpha.net/ORDO/Orphanet_79204
http://identifiers.org/medgen/9780
http://purl.obolibrary.org/obo/DOID_9455
http://identifiers.org/snomedct/10741005
http://linkedlifedata.com/resource/umls/id/C0023794