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Perrault syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0017312

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit. [ Orphanet:2855 ]

Synonyms: XX gonodal dysgenesis-deafness syndrome Perrault syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:93466004 (MONDO:equivalentTo)
  • NORD:2031 (MONDO:NORD)
  • GARD:2542 (Orphanet:2855)
  • OMIMPS:233400 (MONDO:equivalentTo)
  • Orphanet:2855 (MONDO:equivalentTo)
  • UMLS:C0685838 (Orphanet:2855/e)
  • DOID:0050857 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0050857

http://www.orpha.net/ORDO/Orphanet_2855

http://identifiers.org/snomedct/93466004

http://linkedlifedata.com/resource/umls/id/C0685838

https://omim.org/phenotypicSeries/PS233400

has related synonym

gonadal dysgenesis, XX type, with deafness

id

MONDO:0017312

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0017312