hereditary spastic paraplegia 15 - 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:	hereditary spastic paraplegia 15	go back to main search page
Accession:	DOID:0110768	browse the term
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. (DO)
Synonyms:	exact_synonym:	Kjellin syndrome; SPG15; autosomal recessive spastic paraplegia 15; autosomal recessive spastic paraplegia type 15; hereditary spastic paraparesis type 15; recessive spastic paraplegia with retinal degeneration; spastic paraplegia 15; spastic paraplegia and retinal degeneration; spastic paraplegia-retinal degeneration syndrome
	primary_id:	MESH:C536642
	alt_id:	OMIM:270700
	xref:	GARD:9581; ORDO:100996

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Genes (1)

hereditary spastic paraplegia 15

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Zfyve26

zinc finger FYVE-type containing 26

ISO
ISS

ClinVar Annotator: match by term: Hereditary spastic paraplegia 15 | ClinVar Annotator: match by term: Recessive spastic paraplegia with retinal degeneration | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
CTD Direct Evidence: marker/mechanism
OMIM:270700

OMIM
ClinVar
CTD
MouseDO

PMID:6944241 PMID:9536098 PMID:11342696 PMID:16199547 PMID:17576681 More...

NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480

Term paths to the root

Path 1
Term	Annotations
disease	18969
sensory system disease	6961
eye disease	3492
retinal disease	1223
retinal degeneration	853
hereditary spastic paraplegia 15	1
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
hereditary spastic paraplegia 15	1

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

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RGD DISEASE ONTOLOGY - ANNOTATIONS