(Q5473408)

English

mucopolysaccharidosis IX

mucopolysaccharidosis characterized by a deficiency in hyaluronidase

MPSIX
MPS IX
MPS9
Mps 9
MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9
MUCOPOLYSACCHARIDOSIS, TYPE IX
mucopolysaccharidosis type IX
hyaluronidase deficiency
mucopolysaccharidosis type 9
Natowicz syndrome

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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mucopolysaccharidosis

2 references

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

30 November 2020

lysosomal storage disease with skeletal involvement

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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2 references

13 August 2019

Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

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WikiProject Medicine

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ICD-9-CM

277.6

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

C129073

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

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

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0050809

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

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

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Identifiers

MeSH descriptor ID

C563209

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

30 November 2020

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Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011093

Microsoft Academic ID

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0 references

1 reference

28 August 2019

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

(Q5473408)

mucopolysaccharidosis IX

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