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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital nongoitrous hypothyroidism 2
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Accession:DOID:0070124 term browser browse the term
Definition:A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. (DO)
Synonyms:exact_synonym: Athyreotic Hypothyroidism;   CHNG2;   Hypothyroidism, Congenital, Due To Thyroid Dysgenesis;   RESISTANCE TO THYROTROPIN;   RTSH;   THYROTROPIN RESISTANCE;   congenital hypothyroidism due to thyroid dysgenesis or hypoplasia;   ectopic thyroid
 primary_id: MESH:C566852
 alt_id: OMIM:218700;   RDO:0012002
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congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax8 paired box 8 JBrowse link 3 1,527,316 1,586,019 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        Congenital Abnormalities 3592
          thyroid malformation 1
            congenital nongoitrous hypothyroidism 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Skin and Connective Tissue Diseases 4211
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              Dwarfism 308
                congenital hypothyroidism 46
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.