JSON

mucopolysaccharidosis

^ http://purl.obolibrary.org/obo/DOID_12798


A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. [ http://purl.obolibrary.org/obo/ECO_0007643 http://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Mucopolysaccharidosis url:http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis ]

Term info

database cross reference
  • ICD9CM:277.5
  • MESH:D009083
  • NCI:C61259
  • ICD10CM:E76.3
  • UMLS_CUI:C0026703
  • OMIM:252700
  • ORDO:79213
  • SNOMEDCT_US_2018_03_01:11380006
  • GARD:7065
  • OMIM:PS607014
Subsets

NCIthesaurus

comment

Xref MGI. OMIM mapping submitted by NeuroDevNet. [LS].

has alternative id

DOID:14716

has obo namespace

disease_ontology

id

DOID:12798

Term relations