thyroid dyshormonogenesis 3 - Ontology Report

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 dyshormonogenesis 3	go back to main search page
Accession:	DOID:0112187	browse the term
Definition:	A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. (DO)
Synonyms:	exact_synonym:	TDH3; congenital hypothyroidism due to dyshormonogenesis 3; genetic defect in thyroid hormonogenesis 3
	broad_synonym:	TG-RELATED CONDITION
	primary_id:	MESH:C562769
	alt_id:	OMIM:274700

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Genes (2)

thyroid dyshormonogenesis 3

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Sla

src-like adaptor

ISO

ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

ClinVar

PMID:25741868 PMID:28492532

NCBI chr 7:98,534,431...98,584,810
Ensembl chr 7:98,535,368...98,584,648

thyroglobulin

susceptibility

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3

CTD
ClinVar
OMIM

PMID:1752952 PMID:2584351 PMID:7593451 PMID:8094490 PMID:8325944 More...

NCBI chr 7:98,418,293...98,603,210
Ensembl chr 7:98,418,293...98,603,210

Term paths to the root

Path 1
Term	Annotations
disease	21128
physical disorder	4950
congenital hypothyroidism	232
familial thyroid dyshormonogenesis	14
thyroid dyshormonogenesis 3	2
Path 2
Term	Annotations
disease	21128
disease of anatomical entity	18211
Skin and Connective Tissue Diseases	7431
connective tissue disease	5757
bone disease	4270
bone development disease	2304
Dwarfism	862
congenital hypothyroidism	232
familial thyroid dyshormonogenesis	14
thyroid dyshormonogenesis 3	2

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS