primary ciliary dyskinesia 23

primary ciliary dyskinesia 23

http://purl.obolibrary.org/obo/MONDO_0014193

Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: CILD23 ARMC4 primary ciliary dyskinesia primary ciliary dyskinesia 23 ciliary dyskinesia, primary, type 23 primary ciliary dyskinesia type 23 primary ciliary dyskinesia 23 with or without situs inversus primary ciliary dyskinesia caused by mutation in ARMC4

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This is just here as a test because I lose it

Term information

database cross reference

GARD:15969 (OMIM:615451)
OMIM:615451 (MONDO:equivalentTo)
DOID:0110609 (MONDO:equivalentTo)
UMLS:C3809548 (OMIM:615451)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C3809548

http://purl.obolibrary.org/obo/DOID_0110609

https://omim.org/entry/615451

has related synonym

ciliary dyskinesia, primary, 23

ciliary dyskinesia, primary, 23, with or without situs inversus

MONDO:0014193

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014193

Term relations

Subclass of:

primary ciliary dyskinesia