multiple epiphyseal dysplasia 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:	multiple epiphyseal dysplasia 5	go back to main search page
Accession:	DOID:0070299	browse the term
Definition:	A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. (DO)
Synonyms:	exact_synonym:	BHMED; EDM5; bilateral hereditary microepiphyseal dysplasia; multiple epiphyseal dysplasia, MATN3-related
	primary_id:	MESH:C535505
	alt_id:	OMIM:607078
	xref:	GARD:9794; ORDO:93311

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Genes (2)

multiple epiphyseal dysplasia 5

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

MATN3

matrilin 3

susceptibility

ISO

ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY | ClinVar Annotator: match by term: Microepiphyseal dysplasia, bilateral hereditary | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, MATN3-related

ClinVar
OMIM

PMID:11479597 PMID:12736871 PMID:12884427 PMID:13849708 PMID:14729835 More...

NCBI chr2A:19,979,188...20,000,733
Ensembl chr2A:20,095,710...20,116,015

WDR35

WD repeat domain 35

ISO

ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA, BILATERAL HEREDITARY

ClinVar

PMID:25741868 PMID:28492532

NCBI chr2A:19,896,498...19,977,295
Ensembl chr2A:20,014,127...20,093,810

Term paths to the root

Path 1
Term	Annotations
disease	17996
Developmental Disease	17885
bone development disease	2300
osteochondrodysplasia	870
multiple epiphyseal dysplasia	11
multiple epiphyseal dysplasia 5	2
Path 2
Term	Annotations
disease	17996
disease of anatomical entity	15260
musculoskeletal system disease	7805
connective tissue disease	5332
bone disease	3850
bone development disease	2300
osteochondrodysplasia	870
multiple epiphyseal dysplasia	11
multiple epiphyseal dysplasia 5	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS