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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:congenital nongoitrous hypothyroidism 7
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Accession:DOID:0111836 term browser browse the term
Definition:A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. (DO)
Synonyms:exact_synonym: CHNG7;   TRH resistance syndrome;   TRHR-RELATED CONDITION;   central hypothyroidism due to TRH receptor deficiency;   generalized thyrotropin-releasing hormone resistance;   resistance to thyrotropin-releasing hormone syndrome
 primary_id: MESH:C566049
 alt_id: MIM:618573
 xref: ORDO:99832


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congenital nongoitrous hypothyroidism 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trhr thyrotropin releasing hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 7 | ClinVar Annotator: match by term: TRHR-related condition OMIM
ClinVar		 PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 More... NCBI chr 7:77,233,175...77,277,988
Ensembl chr 7:77,233,354...77,277,987 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital hypothyroidism 235
        Congenital Nongoitrous Hypothyroidism 16
          congenital nongoitrous hypothyroidism 7 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Skin and Connective Tissue Diseases 7819
        connective tissue disease 5948
          bone disease 4398
            bone development disease 2345
              Dwarfism 867
                congenital hypothyroidism 235
                  Congenital Nongoitrous Hypothyroidism 16
                    congenital nongoitrous hypothyroidism 7 1
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