Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. [ Orphanet : 705 ]
This is just here as a test because I lose it
Term information
database
cross reference
- NCIT:C121745 (MONDO:equivalentTo)
- SCTID:70348004 (MONDO:equivalentTo)
- DOID:0060744 (MONDO:equivalentTo)
- MESH:C536648 (Orphanet:705/e)
- Orphanet:705 (OMIM:274600)
- GARD:0004271 (MONDO:equivalentTo)
- OMIM:274600 (Orphanet:705/e)
- UMLS:C0271829 (Orphanet:705/e)
Subsets
ordo_malformation_syndrome, clingen
definition
- Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
exactMatch
- https://omim.org/entry/274600
- http://purl.obolibrary.org/obo/NCIT_C121745
- http://www.orpha.net/ORDO/Orphanet_705
- http://linkedlifedata.com/resource/umls/id/C0271829
- http://identifiers.org/snomedct/70348004
- http://identifiers.org/mesh/C536648
- http://purl.obolibrary.org/obo/DOID_0060744
has exact synonym
- thyroid dyshormonogenesis 2B
- deafness with goiter
- hypothyroidism, congenital, due to dyshormonogenesis, 2B
- congenital hypothyroidism due to dyshormonogenesis 2B
- thyroid hormonogenesis, genetic defect in, 2B
- Pendred syndrome
- goiter-deafness syndrome
- genetic defect in thyroid hormonogenesis 2B
- TDH2B
has related synonym
- autosomal recessive sensorineural hearing impairment and goiter
- PDS
id
- MONDO:0010134
Term relations
Subclass of: