Perrault syndrome 2

Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: HARS2 Perrault syndrome Perrault syndrome caused by mutation in HARS2 Perrault syndrome 2 Perrault syndrome type 2

Preferred root terms

All terms

This is just here as a test because I lose it

database cross reference

Subsets

gard_rare, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://www.orpha.net/ORDO/Orphanet_642976

http://linkedlifedata.com/resource/umls/id/C3554105

https://omim.org/entry/614926

has related synonym

PRLTS2

MONDO:0013972

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013972

Subclass of: