Three M Syndrome 2 - 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:	Three M Syndrome 2	go back to main search page
Accession:	DOID:9006598	browse the term
Definition:	3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips. 3M2 is caused by homozygous or compound heterozygous mutation in the OBSL1 gene on chromosome 2q35. (OMIM)
Synonyms:	exact_synonym:	3M SYNDROME 2; 3M2; OBSL1-RELATED CONDITION
	primary_id:	MESH:C567862
	alt_id:	OMIM:612921

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Genes (2)

Three M Syndrome 2

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Brat1

BRCA1 associated ATM activator 1

ISO

ClinVar Annotator: match by term: Three M syndrome 2

ClinVar

PMID:16199547 PMID:19481195 PMID:22279524 PMID:25500575 PMID:25741868 More...

NCBI chrNW_004936823:393,878...404,348
Ensembl chrNW_004936823:393,842...404,366

Obsl1

obscurin like cytoskeletal adaptor 1

ISO

ClinVar Annotator: match by term: 3M syndrome 2
ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition

OMIM
ClinVar

PMID:16531729 PMID:17681982 PMID:19481195 PMID:19877176 PMID:20164589 More...

NCBI chrNW_004936569:1,930,189...1,949,735
Ensembl chrNW_004936569:1,929,069...1,949,708

Term paths to the root

Path 1
Term	Annotations
disease	16465
syndrome	9489
3-M syndrome	4
Three M Syndrome 2	2
Path 2
Term	Annotations
disease	16465
disease of anatomical entity	14116
musculoskeletal system disease	7377
connective tissue disease	5008
bone disease	3672
bone development disease	2181
Dwarfism	810
3-M syndrome	4
Three M Syndrome 2	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS