has material basis in germline mutation in SLC26A4 syndromic disease autosomal recessive disease Pendred syndrome https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/pendred_syndrome TDH2B thyroid dyshormonogenesis 2B icd11.foundation:1156056623 autosomal recessive sensorineural hearing impairment and goitre Pendred syndrome GARD:0004271 autosomal recessive sensorineural hearing impairment and goiter OMIM:274600 PDS goiter-deafness syndrome MONDO:0010134 NCIT:C121745 DOID:0060744 thyroid hormonogenesis, genetic defect in, 2B UMLS:C0271829 hypothyroidism, congenital, due to dyshormonogenesis, 2B SCTID:70348004 Orphanet:705 deafness with goitre deafness with goiter MEDGEN:82890 Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter. MESH:C536648 NORD:2030 congenital hypothyroidism