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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 4
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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
 xref: ICD10CM:E03.1
For additional species annotation, visit the Alliance of Genome Resources.


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congenital nongoitrous hypothyroidism 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tshb thyroid stimulating hormone subunit beta ISO ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4
ClinVar Annotator: match by term: Pituitary cretinism
OMIM
ClinVar
PMID:1971148, PMID:2792087, PMID:8636437, PMID:9589689, PMID:11297590, PMID:11549695, PMID:11788671, PMID:12364478, PMID:15292359, PMID:24423284, PMID:25741868, PMID:25950606, PMID:26416826, PMID:27387040, PMID:28492532 NCBI chr 2:205,207,799...205,215,199
Ensembl chr 2:205,207,799...205,212,681
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      hypothyroidism 155
        congenital hypothyroidism 46
          Congenital Nongoitrous Hypothyroidism 10
            congenital nongoitrous hypothyroidism 4 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              Dwarfism 495
                congenital hypothyroidism 46
                  Congenital Nongoitrous Hypothyroidism 10
                    congenital nongoitrous hypothyroidism 4 1
paths to the root

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