arthrogryposis, renal dysfunction, and cholestasis 2

arthrogryposis, renal dysfunction, and cholestasis 2

http://purl.obolibrary.org/obo/MONDO_0013255

Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VIPAS39 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: arthrogryposis, renal dysfunction, and cholestasis type 2 arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39 VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome arthrogryposis, renal dysfunction, and cholestasis 2

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This is just here as a test because I lose it

Term information

database cross reference

UMLS:C3150672 (OMIM:613404)
GARD:15658 (OMIM:613404)
OMIM:613404 (MONDO:equivalentTo)
DOID:0111354 (MONDO:equivalentTo)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C3150672

http://purl.obolibrary.org/obo/DOID_0111354

https://omim.org/entry/613404

has related synonym

ARCS2

MONDO:0013255

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013255

Term relations

Subclass of:

arthrogryposis-renal dysfunction-cholestasis syndrome