Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/608647 http://purl.bioontology.org/ontology/OMIM/608647
Preferred Name	CILIARY DYSKINESIA, PRIMARY, 5
Synonyms	CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS CILD5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CILIARY DYSKINESIA, PRIMARY, 5, WITHOUT SITUS INVERSUS CILD5
prefLabel	CILIARY DYSKINESIA, PRIMARY, 5
Gene Symbol	CILD5 HYDIN HYDIN1
Scope Statement	Onset in infancy or early childhood [MISCELLANEOUS] Caused by mutation in the HYDIN axonemal central pair apparatus protein gene (HYDIN, 610812.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU028122 http://purl.bioontology.org/ontology/OMIM/MTHU038912 http://purl.bioontology.org/ontology/OMIM/MTHU037105 http://purl.bioontology.org/ontology/OMIM/MTHU028126 http://purl.bioontology.org/ontology/OMIM/MTHU038908 http://purl.bioontology.org/ontology/OMIM/MTHU028123 http://purl.bioontology.org/ontology/OMIM/MTHU038909 http://purl.bioontology.org/ontology/OMIM/MTHU038914 http://purl.bioontology.org/ontology/OMIM/MTHU038911 http://purl.bioontology.org/ontology/OMIM/MTHU038907 http://purl.bioontology.org/ontology/OMIM/MTHU038913 http://purl.bioontology.org/ontology/OMIM/MTHU042904 http://purl.bioontology.org/ontology/OMIM/MTHU033967 http://purl.bioontology.org/ontology/OMIM/MTHU038910 http://purl.bioontology.org/ontology/OMIM/MTHU037263 See more See less
tui	T047
Gene Locus	16q22.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	608647
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1837615
OMIM Entry Type	3
OMIM MimType Value	pound

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