primary ciliary dyskinesia 10 - 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:	primary ciliary dyskinesia 10	go back to main search page
Accession:	DOID:0110612	browse the term
Definition:	A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. (DO)
Synonyms:	exact_synonym:	CILD10; DNAAF2-RELATED CONDITION; primary ciliary dyskinesia 10, with or without situs inversus
	primary_id:	MESH:C567287
	alt_id:	OMIM:612518

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Genes (2)

primary ciliary dyskinesia 10

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dnaaf2

dynein, axonemal, assembly factor 2

ISO
ISS

CTD Direct Evidence: marker/mechanism
OMIM:612518
ClinVar Annotator: match by term: DNAAF2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 10

OMIM
CTD
MouseDO
ClinVar

PMID:19052621 PMID:24033266 PMID:24498942 PMID:25741868 PMID:28492532 More...

NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199

Mgat2

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

ISO

ClinVar Annotator: match by term: Primary ciliary dyskinesia 10

ClinVar

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177

Term paths to the root

Path 1
Term	Annotations
disease	21126
disease of anatomical entity	18216
respiratory system disease	3611
Ciliary Motility Disorders	374
primary ciliary dyskinesia	354
primary ciliary dyskinesia 10	2
Path 2
Term	Annotations
disease	21126
disease of anatomical entity	18216
nervous system disease	14065
Neurologic Manifestations	10043
sensory system disease	6948
Otorhinolaryngologic Diseases	1736
Ciliary Motility Disorders	374
primary ciliary dyskinesia	354
primary ciliary dyskinesia 10	2

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RGD DISEASE ONTOLOGY - ANNOTATIONS