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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
 xref: MESH:C576976;   MIM:275200;   MONDO:0010142


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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, congenital, nongoitrous, 1 ClinVar PMID:1955520 PMID:8954020 PMID:8964822 PMID:9385128 PMID:10037069 More... NCBI chr12:90,965,264...91,351,207
Ensembl chr12:90,965,266...91,351,183 		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:48,871,413...48,886,798
Ensembl chr  X:48,871,413...48,886,626 		JBrowse link
G Tpo thyroid peroxidase ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1 ClinVar PMID:25741868 NCBI chr12:30,104,658...30,182,983
Ensembl chr12:30,104,658...30,182,623 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOTHYROIDISM, NONAUTOIMMUNE | ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 1		 CTD
OMIM
ClinVar		 PMID:1955520 PMID:7528344 PMID:8681963 PMID:8954020 PMID:8964822 More... NCBI chr12:91,367,767...91,507,283
Ensembl chr12:91,351,337...91,516,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16230
    physical disorder 5230
      congenital hypothyroidism 233
        Congenital Nongoitrous Hypothyroidism 15
          congenital nongoitrous hypothyroidism 1 4
Path 2
Term Annotations click to browse term
  disease 16230
    disease of anatomical entity 15849
      Skin and Connective Tissue Diseases 7320
        connective tissue disease 5597
          bone disease 4044
            bone development disease 2367
              Dwarfism 874
                congenital hypothyroidism 233
                  Congenital Nongoitrous Hypothyroidism 15
                    congenital nongoitrous hypothyroidism 1 4
paths to the root