3MC syndrome 2 - Ontology Report - Rat Genome Database

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:	3MC syndrome 2	go back to main search page
Accession:	DOID:0060576	browse the term
Definition:	A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO)
Synonyms:	exact_synonym:	3MC2; Carnevale Krajewska Fischetto syndrome; Carnevale Syndrome; OSA Syndrome; oculo-skeletal-abdominal syndrome; ptosis of eyelids with diastasis recti and hip dysplasia
	primary_id:	MESH:C535586
	alt_id:	OMIM:265050
	xref:	EFO:1001977

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Genes (3)

3MC syndrome 2

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Colec11

collectin sub-family member 11

ISO

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 2

OMIM
CTD
ClinVar

PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More...

NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145

Masp1

MBL associated serine protease 1

ISO

CTD Direct Evidence: marker/mechanism

CTD

PMID:21258343

NCBI chr11:77,334,794...77,405,271
Ensembl chr11:77,334,859...77,402,974

Slc26a2

solute carrier family 26 member 2

ISO

ClinVar Annotator: match by term: OSA syndrome

ClinVar

PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More...

NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626

Term paths to the root

Path 1
Term	Annotations
disease	18976
syndrome	10887
3MC syndrome	19
3MC syndrome 2	3
Path 2
Term	Annotations
disease	18976
Pathological Conditions, Signs and Symptoms	13376
Signs and Symptoms	10866
Neurologic Manifestations	10102
sensory system disease	7022
eye disease	3492
refractive error	234
hyperopia	44
strabismus	37
3MC syndrome 2	3

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

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RGD DISEASE ONTOLOGY - ANNOTATIONS