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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:selective pituitary thyroid hormone resistance
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Accession:DOID:0111374 term browser browse the term
Definition:A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. (DO)
Synonyms:exact_synonym: PRTH;   familial hyperthyroidism due to inappropriate thyrotropin secretion;   pituitary resistance to thyroid hormone;   selective pituitary resistance to thyroid hormone
 broad_synonym: THRB-RELATED CONDITION
 primary_id: MESH:C564154
 alt_id: OMIM:145650
 xref: ORDO:165994


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      endocrine system disease 6819
        thyroid gland disease 571
          hyperthyroidism 103
            selective pituitary thyroid hormone resistance 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal dominant disease 6308
                selective pituitary thyroid hormone resistance 1
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