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Niemann-Pick disease

Go to external page http://purl.obolibrary.org/obo/MONDO_0001982

A group of inherited, severe metabolic disorders in which sphingomyelin accumulates in lysosomes in cells. The lysosomes normally transport material through and out of the cell. [ http://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease ]

Synonyms: sphingomyelinase deficiency disease sphingomyelin/cholesterol lipidosis lipoid histiocytosis Niemann-Pick disease with cholesterol esterification block sphingomyelin lipidosis Niemann-Pick disease, subacute juvenile form lipoid histiocytosis (classical phosphatide)

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:58459009 (MONDO:equivalentTo)
  • NCIT:C61269 (MONDO:equivalentTo)
  • UMLS:C0028064 (NCIT:C61269)
  • MESH:D009542 (MONDO:equivalentTo)
  • EFO:1001380 (MONDO:equivalentTo)
  • DOID:14504 (MONDO:equivalentTo)
Subsets

rare, nord_rare

exactMatch

http://identifiers.org/snomedct/58459009

http://identifiers.org/mesh/D009542

http://linkedlifedata.com/resource/umls/id/C0028064

http://purl.obolibrary.org/obo/NCIT_C61269

http://purl.obolibrary.org/obo/DOID_14504

has narrow synonym

type A Niemann-Pick disease

id

MONDO:0001982