An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency. [ NCIT:C129073 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:67041 (OMIM:601492)
  • ICD9:277.6 (i2s)
  • OMIM:601492 (Orphanet:67041)
  • DOID:0050809 (MONDO:equivalentTo)
  • MESH:C563209 (MONDO:equivalentTo)
  • SCTID:124473006 (MONDO:equivalentTo)
  • NCIT:C129073 (MONDO:equivalentTo)
  • UMLS:C1291490 (Orphanet:67041)
  • ICD10:E76.2 (Orphanet:67041)
Subsets

ordo_disease

abbreviation
MPSIX [ Orphanet:67041 ]

abbreviation
MPS9 [ Orphanet:67041 https://omim.org/entry/601492 MONDO:Lexical ]

definition

An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1291490

http://purl.obolibrary.org/obo/NCIT_C129073

http://identifiers.org/omim/601492

http://identifiers.org/mesh/C563209

http://www.orpha.net/ORDO/Orphanet_67041

http://purl.obolibrary.org/obo/DOID_0050809

http://identifiers.org/snomedct/124473006

has exact synonym

MPSIX

MPS9

mucopolysaccharidosis type IX

mucopolysaccharidosis type 9

has related synonym

mucopolysaccharidosis IX

MPS 9

hyaluronidase deficiency

mucopolysaccharidosis, type 9

mucopolysaccharidosis, type IX

id

MONDO:0011093