A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies. [ NCIT:C61259 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E76.0 (Orphanet:79213)
  • ICD9:277.5 (i2s)
  • MedDRA:10028093 (Orphanet:79213)
  • UMLS:C0026703 (Orphanet:79213)
  • COHD:433446 (MONDO:equivalentTo)
  • ICD10:E76.2 (Orphanet:79213)
  • SCTID:11380006 (MONDO:equivalentTo)
  • Orphanet:79213 (MONDO:equivalentTo)
  • MESH:D009083 (Orphanet:79213)
  • ICD10:E76.3 (Orphanet:79213)
  • ICD10:E76.1 (Orphanet:79213)
  • GARD:0007065 (MONDO:equivalentTo)
  • OMIMPS:607014 (MONDO:equivalentTo)
  • NCIT:C61259 (MONDO:equivalentTo)
  • DOID:12798 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_group_of_disorders

abbreviation
MPS [ GARD:0007065 ]

closeMatch

http://identifiers.org/snomedct/267452003

http://identifiers.org/snomedct/190942001

http://identifiers.org/snomedct/190936000

definition

A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.

exactMatch

http://www.orpha.net/ORDO/Orphanet_79213

http://linkedlifedata.com/resource/umls/id/C0026703

http://identifiers.org/snomedct/11380006

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

http://purl.obolibrary.org/obo/NCIT_C61259

http://identifiers.org/mesh/D009083

http://identifiers.org/meddra/10028093

has exact synonym

mucopolysaccharidoses

mucopolysaccharidosis

id

MONDO:0019249

seeAlso

https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml