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

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital nongoitrous hypothyroidism 4
go back to main search page
Accession:DOID:0070123 term browser browse the term
Definition:A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: CHNG4;   deficiency of thyroid-stimulating hormone;   isolated thyrotropin deficiency;   pituitary cretinism
 narrow_synonym: pituitary cretinism thyrotropin, biologically inactive
 primary_id: OMIM:275100
 alt_id: RDO:0002642
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tshb thyroid stimulating hormone subunit beta JBrowse link 2 205,207,799 205,215,199 RGD:7240710
RGD:8554872

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 4 1
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 4 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.