primary ciliary dyskinesia 1

primary ciliary dyskinesia 1

http://purl.obolibrary.org/obo/MONDO_0009484

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the DNAI1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: CILD1 primary ciliary dyskinesia 1 with or without situs inversus DNAI1 primary ciliary dyskinesia primary ciliary dyskinesia type 1 ciliary dyskinesia, primary, type 1 primary ciliary dyskinesia 1 primary ciliary dyskinesia caused by mutation in DNAI1

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This is just here as a test because I lose it

Term information

database cross reference

DOID:0110594 (MONDO:equivalentTo)
NCIT:C128117 (MONDO:equivalentTo)
OMIM:244400 (MONDO:equivalentTo)
Orphanet:98861 (OMIM:244400)

Subsets

rare, nord_rare, orphanet_rare, clingen

exactMatch

https://omim.org/entry/244400

http://purl.obolibrary.org/obo/DOID_0110594

http://purl.obolibrary.org/obo/NCIT_C128117

has related synonym

PCD

immotile cilia syndrome

dextrocardia, bronchiectasis, and sinusitis

Polynesian bronchiectasis

ciliary dyskinesia, primary, 1

Siewert syndrome

Kartagener syndrome

ciliary dyskinesia, primary, 1, with or without situs inversus

MONDO:0009484

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009484

Term relations

Subclass of:

primary ciliary dyskinesia