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lysosomal storage disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0002561

A metabolic disorder caused by mutations in proteins critical for lysosomal function, including lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. [ http://www.ncbi.nlm.nih.gov/pubmed/21723623 ]

Synonyms: lysosome disorder disorder of lysosomal enzyme disorder of lysosomal enzymes lysosomal storage metabolism disorder lysosome disease lysosomal disorder inborn lysosomal enzyme disorder lysosomal storage disorder lysosomal disease

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:43098 (MONDO:equivalentTo)
  • SCTID:23585005 (MONDO:equivalentTo)
  • MESH:D016464 (MONDO:equivalentTo)
  • DOID:3211 (MONDO:equivalentTo)
  • GARD:18884 (MONDO:GARD)
  • SCTID:28821000119102 (https://orcid.org/0009-0002-1597-2198)
  • NCIT:C61250 (MONDO:equivalentTo)
  • icd11.foundation:656131403 (https://orcid.org/0000-0001-5208-3432)
  • Orphanet:68366 (MONDO:equivalentTo)
  • UMLS:C0085078 (MONDO:equivalentTo)
  • NANDO:1200055 (https://orcid.org/0000-0003-0011-764X)
  • NANDO:2100165 (https://orcid.org/0000-0003-0011-764X)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, 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_included, clingen, 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/specific_disease_by_dysfunctional_structure.yaml

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0002561

exactMatch

http://purl.obolibrary.org/obo/NCIT_C61250

http://identifiers.org/snomedct/28821000119102

http://purl.obolibrary.org/obo/DOID_3211

http://identifiers.org/mesh/D016464

http://linkedlifedata.com/resource/umls/id/C0085078

http://identifiers.org/medgen/43098

http://identifiers.org/snomedct/23585005

http://www.orpha.net/ORDO/Orphanet_68366

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/656131403

has related synonym

phospholipidosis

id

MONDO:0002561