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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 18249
      endocrine system disease 6821
        thyroid gland disease 571
          hyperthyroidism 103
            selective pituitary thyroid hormone resistance 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                selective pituitary thyroid hormone resistance 1
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