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Summary Literature (0)
DOID:0050857 - Perrault syndrome


Disease Ontology Definition:A syndrome that is characterized by sensorineural hearing loss and ovarian failure.

Synonyms:

Xenbase Genes : lars2, clpp, twnk, hsd17b4, eral1, hars2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0017312 - Perrault syndrome

MIM:
MIM:233400 - PERRAULT SYNDROME 1; PRLTS1
MIM:614129 - PERRAULT SYNDROME 3; PRLTS3
MIM:614926 - PERRAULT SYNDROME 2; PRLTS2
MIM:615300 - PERRAULT SYNDROME 4; PRLTS4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)