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short stature-delayed bone age due to thyroid hormone metabolism deficiency
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Short stature-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
Uniprot Description A disorder associated with a reduction in type II iodothyronine deiodinase activity.
Mondo Term and Equivalent IDs
MONDO:0012332: short stature-delayed bone age due to thyroid hormone metabolism deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C566454
OMIM:609698
Orphanet:171706
UMLS:C1864761
MONDO:0012332
High level summary of knowledge for a disease, including descriptions and datasource references.