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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:Thyrotropin-Releasing Hormone Deficiency
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Accession:DOID:9006335 term browser browse the term
Synonyms:exact_synonym: HYPOTHALAMIC HYPOTHYROIDISM;   TRH DEFICIENCY
 primary_id: OMIM:275120;   RDO:0010111


show annotations for term's descendants           Sort by:
Thyrotropin-Releasing Hormone Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Hypothalamic hypothyroidism
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      hypothyroidism 334
        Thyrotropin-Releasing Hormone Deficiency 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      endocrine system disease 6775
        thyroid gland disease 569
          hypothyroidism 334
            Thyrotropin-Releasing Hormone Deficiency 1
paths to the root