JSON

mucolipidosis

^ http://purl.obolibrary.org/obo/MONDO_0019248

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. [ NCIT:C61267 ]

Term info

database cross reference
  • NCIT:C61267 (MONDO:equivalentTo)
  • Orphanet:79212 (MONDO:equivalentTo)
  • SCTID:70528007 (MONDO:equivalentTo)
  • UMLS:C0026697 (Orphanet:79212/e)
  • MESH:D009081 (Orphanet:79212/e)
  • DOID:0080488 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

definition

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.

exactMatch

http://purl.obolibrary.org/obo/DOID_0080488, http://identifiers.org/snomedct/70528007, http://purl.obolibrary.org/obo/NCIT_C61267, http://purl.obolibrary.org/obo/Orphanet_79212, http://identifiers.org/mesh/D009081, http://linkedlifedata.com/resource/umls/id/C0026697

id

MONDO:0019248