Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024
Preferred Name

proteoglycan 4
Synonyms

lubricin

Jacobs camptodactyly-arthropathy-pericarditis syndrome

FLJ32635

JCAP

bG174L6.2 (MSF: megakaryocyte stimulating factor )

camptodactyly, arthropathy, coxa vara, pericarditis syndrome

megakaryocyte stimulating factor

bG174L6.2

SZP

HAPO

MSF

articular superficial zone protein

ID

http://www.orpha.net/ORDO/Orphanet_118000

alternative_term

lubricin

Jacobs camptodactyly-arthropathy-pericarditis syndrome

FLJ32635

JCAP

bG174L6.2 (MSF: megakaryocyte stimulating factor )

camptodactyly, arthropathy, coxa vara, pericarditis syndrome

megakaryocyte stimulating factor

bG174L6.2

SZP

HAPO

MSF

articular superficial zone protein

hasDbXref

OMIM:604283

Ensembl:ENSG00000116690

SwissProt:Q92954

Genatlas:PRG4

ClinVar:PRG4

HGNC:9364

label

proteoglycan 4

prefixIRI

ORDO:Orphanet_118000

prefLabel

proteoglycan 4

symbol

PRG4

subClassOf

http://www.orpha.net/ORDO/Orphanet_410298

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