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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 1
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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.


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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, NONAUTOIMMUNE
ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar PMID:1955520 PMID:8964822 PMID:9385128 PMID:10037069 PMID:12050212 PMID:17062880 PMID:24728327 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 6:114,759,474...115,158,004
Ensembl chr 6:114,759,474...115,157,854
JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE
ClinVar
OMIM
PMID:1955520 PMID:7528344 PMID:8954020 PMID:8964822 PMID:9100579 PMID:9185526 PMID:9329388 PMID:9385128 PMID:9589634 PMID:9589691 PMID:10037069 PMID:10720030 PMID:10870027 PMID:11095460 PMID:11442002 PMID:12050212 PMID:12629076 PMID:14725684 PMID:15514085 PMID:15693879 PMID:16756469 PMID:17062880 PMID:17526952 PMID:17953807 PMID:18379122 PMID:18850313 PMID:19158199 PMID:19221175 PMID:19240155 PMID:19506388 PMID:19820021 PMID:20652618 PMID:20718767 PMID:20736161 PMID:21586576 PMID:21677043 PMID:21707688 PMID:21714469 PMID:22049173 PMID:22359649 PMID:22405933 PMID:22876533 PMID:23356285 PMID:23535966 PMID:23926367 PMID:24033266 PMID:24728327 PMID:24895636 PMID:25248169 PMID:25557138 PMID:25741868 PMID:26709262 PMID:27060741 PMID:27084275 PMID:27255745 PMID:27578510 PMID:27637299 PMID:28444304 PMID:28455095 PMID:28492532 PMID:28561265 PMID:30311386 NCBI chr 6:115,170,290...115,306,871
Ensembl chr 6:115,170,865...115,306,871
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital hypothyroidism 46
        Congenital Nongoitrous Hypothyroidism 10
          congenital nongoitrous hypothyroidism 1 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Skin and Connective Tissue Diseases 5492
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              Dwarfism 496
                congenital hypothyroidism 46
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 1 2
paths to the root