Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 1
go back to main search page
Accession:DOID:0070126 term browser browse the term
Definition:A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. (DO)
Synonyms:exact_synonym: CHNG1;   Hypothyroidism, Nonautoimmune
 primary_id: MESH:C576976
 alt_id: OMIM:275200;   RDO:0015851
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep128 centrosomal protein 128 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 More... NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713
JBrowse link
G Igsf1 immunoglobulin superfamily, member 1 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:129,069,891...129,085,331
Ensembl chr  X:129,069,896...129,085,139
JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 NCBI chr 6:46,698,402...46,768,199
Ensembl chr 6:46,698,414...46,768,199
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 OMIM
ClinVar
PMID:1955520 PMID:7528344 PMID:8954020 PMID:8964822 PMID:9100579 More... NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    physical disorder 4194
      congenital hypothyroidism 229
        Congenital Nongoitrous Hypothyroidism 15
          congenital nongoitrous hypothyroidism 1 4
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      Skin and Connective Tissue Diseases 6656
        connective tissue disease 5013
          bone disease 3683
            bone development disease 1873
              Dwarfism 738
                congenital hypothyroidism 229
                  Congenital Nongoitrous Hypothyroidism 15
                    congenital nongoitrous hypothyroidism 1 4
paths to the root