nonautoimmune hyperthyroidism - Ontology Report

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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:	nonautoimmune hyperthyroidism	go back to main search page
Accession:	DOID:0081101	browse the term
Definition:	A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. (DO)
Synonyms:	exact_synonym:	Toxic Thyroid Hyperplasia, Autosomal Dominant; nonautoimmune hyperthyroidism, autosomal dominant; nonautoimmune hyperthyroidism, congenital
	alt_id:	DOID:9004050
	xref:	MESH:C563786; MIM:609152; MONDO:0012203; ORDO:424

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Genes (2)

nonautoimmune hyperthyroidism

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cep128

centrosomal protein 128

ISO

ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune

ClinVar

PMID:1955520 PMID:8954020 PMID:8964822 PMID:9385128 PMID:10037069 More...

NCBI chr 6:109,951,009...110,328,686
Ensembl chr 6:109,951,061...110,328,713

Tshr

thyroid stimulating hormone receptor

ISO

DNA:missense mutation: :2071A>T (p.I691F) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperthyroidism, nonautoimmune | ClinVar Annotator: match by term: TOXIC THYROID HYPERPLASIA, AUTOSOMAL DOMINANT

CTD
OMIM
ClinVar
RGD

PMID:1955520 PMID:7124278 PMID:7528344 PMID:7800007 PMID:7920658 More...

RGD:8548658

NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538

Term paths to the root

Path 1
Term	Annotations
disease	19137
disease of anatomical entity	18450
endocrine system disease	7033
thyroid gland disease	579
hyperthyroidism	105
nonautoimmune hyperthyroidism	2
Path 2
Term	Annotations
disease	19137
Developmental Disease	14663
Congenital, Hereditary, and Neonatal Diseases and Abnormalities	13711
genetic disease	13376
monogenic disease	10925
autosomal genetic disease	10412
autosomal dominant disease	6762
nonautoimmune hyperthyroidism	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS