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Metadata
ID DOID:0070125
Name congenital nongoitrous hypothyroidism 5
Definition A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.
https://www.ncbi.nlm.nih.gov/pubmed/16418214
Xrefs

ICD10CM:E03.1

OMIM:225250

ORDO:90673

Synonyms

CHNG5 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a congenital hypothyroidism

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