Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea [ Orphanet:77293 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E75.2 (Orphanet:77293)
  • SCTID:39390005 (MONDO:equivalentTo)
  • Orphanet:77293 (OMIM:607616)
  • UMLS:C0268243 (Orphanet:77293)
  • DOID:0070112 (MONDO:equivalentTo)
  • MESH:D052537 (Orphanet:77293)
  • OMIM:607616 (Orphanet:77293)
  • ICD10:E75.241 (MONDO:equivalentTo)
  • GARD:0010729 (MONDO:equivalentTo)
  • NCIT:C126866 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

closeMatch

http://linkedlifedata.com/resource/umls/id/C1843418

http://linkedlifedata.com/resource/umls/id/C2675644

definition

Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea

exactMatch

http://purl.obolibrary.org/obo/DOID_0070112

http://identifiers.org/mesh/D052537

http://www.orpha.net/ORDO/Orphanet_77293

http://identifiers.org/snomedct/39390005

http://identifiers.org/omim/607616

http://linkedlifedata.com/resource/umls/id/C0268243

http://purl.obolibrary.org/obo/NCIT_C126866

has exact synonym

type B Niemann-Pick disease

has related synonym

Niemann-Pick disease, Intermediate, with visceral involvement and rapid progression

Niemann-Pick disease, type E

Niemann Pick disease type B

Niemann-PICK disease, type B

Niemann-Pick disease, type F

id

MONDO:0011871

seeAlso

https://rarediseases.info.nih.gov/diseases/10729/niemann-pick-disease-type-b