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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:thyroid malformation
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Accession:DOID:8433 term browser browse the term
Definition:Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.
Synonyms:exact_synonym: Ectopic Thyroid;   Ectopic Thyroids;   Thyroid Agenesis;   Thyroid Dysgenesis;   Thyroid Hypoplasia
 primary_id: MESH:D050033;   RDO:0007527
 xref: NCI:C27331
For additional species annotation, visit the Alliance of Genome Resources.



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thyroid malformation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Thyroid dysgenesis ClinVar PMID:9382140 PMID:9523167 PMID:17437516 PMID:23647375 NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
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congenital nongoitrous hypothyroidism 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax8 paired box 8 ISO ClinVar Annotator: match by term: Hypothyroidism, congenital, nongoitrous, 2
ClinVar Annotator: match by term: Thyroid, ectopic
OMIM
ClinVar
PMID:9382140 PMID:9523167 PMID:9590296 PMID:11232006 PMID:11502839 More... NCBI chr 3:7,185,721...7,242,363
Ensembl chr 3:7,185,723...7,242,363
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          thyroid malformation 1
            Lingual Thyroids + 0
            congenital nongoitrous hypothyroidism 2 1
paths to the root