Human Disease Ontology

Last uploaded: June 2, 2024
Preferred Name

primary ciliary dyskinesia

Synonyms

immotile ciliary syndrome

ciliary motility disorder

Definitions

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

ID

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

comment

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

database_cross_reference

MESH:D002925

MIM:PS244400

UMLS_CUI:C0008780

SNOMEDCT_US_2023_03_01:86204009

GARD:4484

NCI:C84638

ORDO:244

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.

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

subClassOf

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

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