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DO Term : thyroid dyshormonogenesis 1 [DOID:0112185] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.

synonyms:
MESH:C564766,
274400,
genetic defect in thyroid hormonogenesis 1,
TDH1,
iodide accumulation, transport, or trapping defect,
OMIM:274400

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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