distal arthrogryposis type 5 - 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:	distal arthrogryposis type 5	go back to main search page
Accession:	DOID:0111608	browse the term
Definition:	A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)
Synonyms:	exact_synonym:	DA5; DAIIB; arthrogryposis with oculomotor limitation and electroretinal abnormalities; arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; distal arthrogryposis type IIb; distal arthrogryposis with ophthalmoplegia; oculomelic amyoplasia
	primary_id:	MESH:C537737
	alt_id:	OMIM:108145
	xref:	GARD:4047; MONDO:0007158; ORDO:1154

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Genes (1)

distal arthrogryposis type 5

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Piezo2

piezo-type mechanosensitive ion channel component 2

ISO

ClinVar Annotator: match by term: Arthrogryposis with oculomotor limitation and electroretinal abnormalities | ClinVar Annotator: match by term: Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:1941966 PMID:8423615 PMID:8533802 PMID:11152147 PMID:15103714 More...

NCBI chr18:63,143,284...63,520,787
Ensembl chr18:63,143,284...63,520,254

Term paths to the root

Path 1
Term	Annotations
disease	18300
physical disorder	5000
arthrogryposis multiplex congenita	243
distal arthrogryposis	110
distal arthrogryposis type 5	1
Path 2
Term	Annotations
disease	18300
disease of anatomical entity	15630
musculoskeletal system disease	7928
connective tissue disease	5393
bone disease	3899
bone inflammation disease	1327
arthropathy	1305
arthrogryposis multiplex congenita	243
distal arthrogryposis	110
distal arthrogryposis type 5	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS