Sveinsson chorioretinal atrophy - 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:	Sveinsson chorioretinal atrophy	go back to main search page
Accession:	DOID:0111228	browse the term
Definition:	An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. (DO)
Synonyms:	exact_synonym:	AA; HPCD; SCRA; atrophia areata; helicoid peripapillary chorioretinal degeneration; helicoidal peripapillary chorioretinal degeneration; peripapillary chorioretinal degeneration, Icelandic type
	related_synonym:	Sveinsson choreoretinal atrophy
	primary_id:	MESH:C566236
	alt_id:	OMIM:108985
	xref:	ORDO:86813

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Genes (2)

Sveinsson chorioretinal atrophy

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Sema4a

semaphorin 4A

ISO

ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration

ClinVar

PMID:25741868

NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442

Tead1

TEA domain transcription factor 1

ISO

ClinVar Annotator: match by term: Helicoid peripapillary chorioretinal degeneration
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:15016762 PMID:15359244 PMID:17689488 PMID:25741868 PMID:28492532 More...

NCBI chr 1:166,791,900...167,010,591
Ensembl chr 1:166,792,628...167,003,369

Term paths to the root

Path 1
Term	Annotations
disease	18969
sensory system disease	6961
eye disease	3492
eye degenerative disease	855
retinal degeneration	853
Sveinsson chorioretinal atrophy	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18249
nervous system disease	14091
Neurologic Manifestations	10055
sensory system disease	6961
eye disease	3492
retinal disease	1223
retinal degeneration	853
Sveinsson chorioretinal atrophy	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS