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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 TRHR on chromosome 8q23.1. (DO)
Synonyms:exact_synonym: CHNG7;   TRH resistance syndrome;   central hypothyroidism due to TRH receptor deficiency;   generalized thyrotropin-releasing hormone resistance;   resistance to thyrotropin-releasing hormone syndrome
 primary_id: MESH:C566049
 alt_id: OMIM:618573
 xref: ORDO:99832
For additional species annotation, visit the Alliance of Genome Resources.

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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 OMIM
ClinVar		 PMID:9141550 PMID:19213692 PMID:25741868 PMID:26735259 PMID:28419241 NCBI chr 7:83,113,641...83,153,520
Ensembl chr 7:83,113,672...83,153,519 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital hypothyroidism 46
        Congenital Nongoitrous Hypothyroidism 10
          congenital nongoitrous hypothyroidism 7 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              Dwarfism 486
                congenital hypothyroidism 46
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 7 1
paths to the root