Kw 0984
cv_term_accession
KW-0984
canonical
uniprot_keyword
KW-0984
canonical
name
Congenital hypothyroidism
uniprot
definition
Protein which, if defective, causes congenital hypothyroidism, a condition due to thyroid hormones deficiency, presenting at birth. Congenital hypothyroidism occurs when the thyroid gland fails to develop or function properly. In most cases, the thyroid gland is absent, abnormally located, or severely reduced in size. In the remaining cases, a normal-sized or enlarged thyroid gland is present, but production of thyroid hormones is decreased or absent. If untreated, congenital hypothyroidism can lead to intellectual disability and growth failure.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords