mucopolysaccharidosis type 9

mucopolysaccharidosis type 9

http://purl.obolibrary.org/obo/MONDO_0011093

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 ]

Synonyms: MPS9 MPSIX mucopolysaccharidosis type IX mucopolysaccharidosis type 9

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This is just here as a test because I lose it

Term information

database cross reference

Orphanet:67041 (OMIM:601492)
GARD:16675 (Orphanet:67041)
SCTID:124473006 (MONDO:equivalentTo)
DOID:0050809 (MONDO:equivalentTo)
ICD9:277.6 (MONDO:relatedTo)
MESH:C563209 (MONDO:equivalentTo)
UMLS:C1291490 (Orphanet:67041)
NCIT:C129073 (MONDO:equivalentTo)
OMIM:601492 (Orphanet:67041/e)

Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

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

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

http://identifiers.org/mesh/C563209

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

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

https://omim.org/entry/601492

http://identifiers.org/snomedct/124473006

has related synonym

mucopolysaccharidosis IX

MPS 9

hyaluronidase deficiency

mucopolysaccharidosis, type 9

mucopolysaccharidosis, type IX

MONDO:0011093

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0011093

Term relations

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