arthrogryposis multiplex congenita-3 - 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:	arthrogryposis multiplex congenita-3	go back to main search page
Accession:	DOID:0080979	browse the term
Definition:	An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. (DO)
Synonyms:	exact_synonym:	AMC3; AMCM; Arthrogryposis Multiplex Congenita 3, Myogenic Type; arthrogryposis multiplex congenita, myogenic type
	primary_id:	OMIM:618484
	alt_id:	DOID:9000909

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Genes (2)

arthrogryposis multiplex congenita-3

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ESR1

estrogen receptor 1

ISO

ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type

ClinVar

PMID:25741868 PMID:27782104

NCBI chr 6:149,507,599...149,918,523
Ensembl chr 6:154,317,002...154,631,551

SYNE1

spectrin repeat containing nuclear envelope protein 1

ISO

ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, MYOGENIC TYPE | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 3, myogenic type

OMIM
ClinVar

PMID:19542096 PMID:24319099 PMID:24838835 PMID:25741868 PMID:26467025 More...

NCBI chr 6:149,936,306...150,454,822
Ensembl chr 6:154,627,904...155,144,076

Term paths to the root

Path 1
Term	Annotations
disease	17996
physical disorder	4917
arthrogryposis multiplex congenita	242
arthrogryposis multiplex congenita-3	2
Path 2
Term	Annotations
disease	17996
disease of anatomical entity	15260
musculoskeletal system disease	7805
connective tissue disease	5332
bone disease	3850
bone inflammation disease	1292
arthropathy	1272
arthrogryposis multiplex congenita	242
arthrogryposis multiplex congenita-3	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS