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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Rat (3) Mouse (3) Human (20) Chinchilla (3) Bonobo (3) Dog (3) Squirrel (3) Pig (3) Green Monkey (3) Naked Mole-rat (3) All
Genes (3) Variants (17)

3MC syndrome 2

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

COLEC11

collectin subfamily member 11

IAGP
EXP

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

ClinVar
OMIM
CTD

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

NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644

MASP1

MBL associated serine protease 1

EXP

CTD Direct Evidence: marker/mechanism

CTD

PMID:21258343

NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980

SLC26A2

solute carrier family 26 member 2

IAGP

ClinVar Annotator: match by term: OSA syndrome

ClinVar

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

NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455

Term paths to the root

Path 1
Term	Annotations
disease	41189
syndrome	18075
3MC syndrome	24
3MC syndrome 2	3
Path 2
Term	Annotations
disease	41189
Pathological Conditions, Signs and Symptoms	21466
Signs and Symptoms	16320
Neurologic Manifestations	15387
sensory system disease	9730
eye disease	4942
refractive error	269
hyperopia	45
strabismus	38
3MC syndrome 2	3

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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

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RGD DISEASE ONTOLOGY - ANNOTATIONS