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Metadata
ID DOID:0111835
Name congenital nongoitrous hypothyroidism 9
Definition A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3.
https://www.ncbi.nlm.nih.gov/pubmed/30061370
Xrefs

MIM:301035

Synonyms

CHNG9 [EXACT]

Parent Relationships

is_a congenital hypothyroidism

is_a X-linked recessive disease

Subclass Logical Relationships

has material basis in some X-linked recessive inheritance

disease has basis in some Abnormality of prenatal development or birth

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