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)
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