Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
Preferred Name

primary ciliary dyskinesia

Synonyms

immotile ciliary syndrome

ciliary motility disorder

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.

ID

http://purl.obolibrary.org/obo/DOID_9562

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

OMIM:PS244400

MESH:D002925

UMLS_CUI:C0008780

SNOMEDCT_US_2023_03_01:86204009

GARD:4484

NCI:C84638

ORDO:244

has exact synonym

immotile ciliary syndrome

ciliary motility disorder

has symptom

http://purl.obolibrary.org/obo/SYMP_0000568

has_alternative_id

DOID:2925

has_obo_namespace

disease_ontology

id

DOID:9562

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim

label

primary ciliary dyskinesia

notation

DOID:9562

prefLabel

primary ciliary dyskinesia

textual definition

A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.

subClassOf

http://purl.obolibrary.org/obo/DOID_0060340

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