generalized epilepsy with febrile seizures plus 10 - 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:	generalized epilepsy with febrile seizures plus 10	go back to main search page
Accession:	DOID:0111296	browse the term
Definition:	A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. (DO)
Synonyms:	exact_synonym:	GEFS+, type 10; GEFS+10; GEFSP10; generalised epilepsy with febrile seizures plus 10; generalised epilepsy with febrile seizures plus type 10; generalized epilepsy with febrile seizures plus, type 10
	primary_id:	OMIM:618482

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Genes (1)

generalized epilepsy with febrile seizures plus 10

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Hcn1

hyperpolarization-activated cyclic nucleotide-gated potassium channel 1

ISO

ClinVar Annotator: match by term: GEFS+, TYPE 10 | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus, type 10

OMIM
ClinVar

PMID:24747641 PMID:25678871 PMID:25741868 PMID:26073591 PMID:26467025 More...

NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774

Term paths to the root

Path 1
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
central nervous system disease	12432
brain disease	11669
epilepsy	2811
Febrile Seizures	60
generalized epilepsy with febrile seizures plus	27
generalized epilepsy with febrile seizures plus 10	1
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
central nervous system disease	12432
brain disease	11669
epilepsy	2811
Generalized Epilepsy	392
idiopathic generalized epilepsy	249
generalized epilepsy with febrile seizures plus	27
generalized epilepsy with febrile seizures plus 10	1

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

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RGD DISEASE ONTOLOGY - ANNOTATIONS