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ONTOLOGY REPORT - ANNOTATIONS


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 Due To Unresponsiveness To Thyrotropin;   Hypothyroidism, Nonautoimmune;   RTSH;   THYROTROPIN RESISTANCE;   TSH resistance;   congenital hypothyroidism due to TSH resistance;   resistance to thyroid-stimulating hormone
 primary_id: MESH:C576976
 alt_id: OMIM:275200;   RDO:0015851
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congenital nongoitrous hypothyroidism 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep128 centrosomal protein 128 JBrowse link 6 114,759,474 115,158,004 RGD:8554872
G Tshr thyroid stimulating hormone receptor JBrowse link 6 115,170,290 115,306,871 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      hypothyroidism 136
        congenital hypothyroidism 44
          Congenital Nongoitrous Hypothyroidism 8
            congenital nongoitrous hypothyroidism 1 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      musculoskeletal system disease 4252
        connective tissue disease 2761
          bone disease 2210
            bone development disease 980
              Dwarfism 307
                congenital hypothyroidism 44
                  Congenital Nongoitrous Hypothyroidism 8
                    congenital nongoitrous hypothyroidism 1 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.