Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/621125 http://purl.bioontology.org/ontology/OMIM/621125
Preferred Name	CILIARY DYSKINESIA, PRIMARY, 54
Synonyms	CILD54
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CILD54
prefLabel	CILIARY DYSKINESIA, PRIMARY, 54
Gene Symbol	CFAP54 CILD54 SPGF98
Scope Statement	Caused by mutation in the cilia- and flagella-associated protein-54 gene (CFAP54, 621121.0006) [MOLECULAR BASIS] Based on report of 3 patients (last curated March 2025) [MISCELLANEOUS] Affected males may be fertile [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU079674 http://purl.bioontology.org/ontology/OMIM/MTHU079673 http://purl.bioontology.org/ontology/OMIM/MTHU079671 http://purl.bioontology.org/ontology/OMIM/MTHU059322 http://purl.bioontology.org/ontology/OMIM/MTHU002638 http://purl.bioontology.org/ontology/OMIM/MTHU079675 http://purl.bioontology.org/ontology/OMIM/MTHU003537 http://purl.bioontology.org/ontology/OMIM/MTHU079672 http://purl.bioontology.org/ontology/OMIM/MTHU059321 http://purl.bioontology.org/ontology/OMIM/MTHU006260 http://purl.bioontology.org/ontology/OMIM/MTHU012038 http://purl.bioontology.org/ontology/OMIM/MTHU037263 See more See less
tui	T047
Gene Locus	12q23.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	621125
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C6012704
OMIM Entry Type	3
OMIM MimType Value	pound

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