mucopolysaccharidosis type 2, attenuated form

Go to external page http://purl.obolibrary.org/obo/MONDO_0016316


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline. [ Orphanet:217093 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E76.1 (Orphanet:217093)
  • UMLS:CN201132 (MONDO:equivalentTo)
  • Orphanet:217093 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

abbreviation
MPS2B [ Orphanet:217093 ]

abbreviation
MPSIIB [ Orphanet:217093 ]

definition

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2, leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form by the absence of cognitive decline.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN201132

http://www.orpha.net/ORDO/Orphanet_217093

has exact synonym

MPSIIB

Hunter syndrome type B

MPS2B

mucopolysaccharidosis type IIB

mucopolysaccharidosis type II, attenuated form

iduronate 2-sulfatase deficiency type B

mucopolysaccharidosis type 2B

id

MONDO:0016316

Term relations