OMIA:000536 : Hypothyroidism, congenital

Categories: Endocrine / exocrine gland phene (incl mammary gland)

Possible human homologues (MIM numbers): 274500 (trait) , 606765 (gene)

Links to relevant human diseases in MONDO:

Cross-species summary: Deficiency of thyroid gland activity. Also known as Goiterous congenital hypothyroidism; Congenital hypothyroidism; Thyroid dyshormonogenesis. This disorder can be caused by mutations in different genes, and forms of the disease exist that are not inherited.

Species in which this phene is found:
rock pigeon (Columba livia)
chicken (Gallus gallus)
dog (Canis lupus familiaris)
lesser panda (Ailurus fulgens)
domestic cat (Felis catus)
domestic horse (Equus caballus)
goat (Capra hircus)
sheep (Ovis aries)

Edit History


  • Created by Frank Nicholas on 03 May 2005
  • Changed by Frank Nicholas on 15 Sep 2011
  • Changed by Frank Nicholas on 20 Sep 2019
  • Changed by Imke Tammen2 on 18 Jun 2021
  • Changed by Imke Tammen2 on 25 Sep 2021
  • Changed by Imke Tammen2 on 26 Sep 2021
  • Changed by Imke Tammen2 on 22 May 2022
  • Changed by Imke Tammen2 on 03 Feb 2023