Pendred syndrome
Pendred syndrome (PDS) is a clinically variable genetic disorder characterized by bilateral sensorineural hearing loss and euthyroid goiter.
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0018612
congenital hypothyroidism
is_a
PDS
related
Pendred syndrome
exact
TDH2B
exact
autosomal recessive sensorineural hearing impairment and goiter
related
autosomal recessive sensorineural hearing impairment and goitre
related
deafness with goiter
exact
deafness with goitre
exact
goiter-deafness syndrome
exact
hypothyroidism, congenital, due to dyshormonogenesis, 2B
exact
thyroid dyshormonogenesis 2B
exact
thyroid hormonogenesis, genetic defect in, 2B
exact
SPBC3H7.02 SPCC320.05 SPAC869.05c