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Pendred syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0010134

Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. [ Orphanet:705 ]

Synonyms: thyroid hormonogenesis, genetic defect in, 2B thyroid dyshormonogenesis 2B Pendred syndrome genetic defect in thyroid hormonogenesis 2B deafness with goitre goiter-deafness syndrome TDH2B hypothyroidism, congenital, due to dyshormonogenesis, 2B deafness with goiter congenital hypothyroidism due to dyshormonogenesis 2B

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C536648 (Orphanet:705/e)
  • SCTID:70348004 (MONDO:equivalentTo)
  • OMIM:274600 (Orphanet:705/e)
  • DOID:0060744 (MONDO:equivalentTo)
  • GARD:4271 (Orphanet:705)
  • NCIT:C121745 (MONDO:equivalentTo)
  • NORD:2030 (MONDO:NORD)
  • Orphanet:705 (OMIM:274600)
  • UMLS:C0271829 (Orphanet:705/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6878

exactMatch

http://purl.obolibrary.org/obo/DOID_0060744

http://identifiers.org/mesh/C536648

http://purl.obolibrary.org/obo/NCIT_C121745

http://www.orpha.net/ORDO/Orphanet_705

http://linkedlifedata.com/resource/umls/id/C0271829

https://omim.org/entry/274600

http://identifiers.org/snomedct/70348004

has related synonym

autosomal recessive sensorineural hearing impairment and goiter

autosomal recessive sensorineural hearing impairment and goitre

PDS

id

MONDO:0010134

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010134