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[X] sphingolipidosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0019255

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [ http://www.ncbi.nlm.nih.gov/pubmed/21502308 NCIT:P378 ]

Synonyms: sphingolipidoses

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:52453 (MONDO:equivalentTo)
  • DOID:1927 (MONDO:equivalentTo)
  • NCIT:C117254 (MONDO:equivalentTo)
  • icd11.foundation:1875237176 (Orphanet:79225)
  • GARD:7672 (MONDO:GARD)
  • UMLS:C0037899 (MONDO:equivalentTo)
  • Orphanet:79225 (MONDO:equivalentTo)
  • MESH:D013106 (Orphanet:79225/e)
  • SCTID:238028008 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, disease_grouping, matrix_llm__medical_specialization_other, matrix_llm__txgnn_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, nord_rare, 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

exactMatch

http://www.orpha.net/ORDO/Orphanet_79225

http://identifiers.org/medgen/52453

http://identifiers.org/snomedct/238028008

http://purl.obolibrary.org/obo/NCIT_C117254

http://purl.obolibrary.org/obo/DOID_1927

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1875237176

http://identifiers.org/mesh/D013106

http://linkedlifedata.com/resource/umls/id/C0037899

id

MONDO:0019255

seeAlso

https://rarediseases.info.nih.gov/diseases/7672/sphingolipidosis