Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/610852 http://purl.bioontology.org/ontology/OMIM/610852
Preferred Name	CILIARY DYSKINESIA, PRIMARY, 6
Synonyms	CILD6
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CILD6
prefLabel	CILIARY DYSKINESIA, PRIMARY, 6
Gene Symbol	SPTRX2 TXNDC3 CILD6 NME8
Scope Statement	Genetic heterogeneity, see CILD1 (244400) [MISCELLANEOUS] Caused by mutation in the thioredoxin domain-containing 3 gene (TXNDC3, 607421.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU043055 http://purl.bioontology.org/ontology/OMIM/MTHU008465 http://purl.bioontology.org/ontology/OMIM/MTHU025201 http://purl.bioontology.org/ontology/OMIM/MTHU025202 http://purl.bioontology.org/ontology/OMIM/MTHU025195 http://purl.bioontology.org/ontology/OMIM/MTHU065719 http://purl.bioontology.org/ontology/OMIM/MTHU025197 http://purl.bioontology.org/ontology/OMIM/MTHU025193 http://purl.bioontology.org/ontology/OMIM/MTHU025194 See more See less
tui	T047
Gene Locus	7p14.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	610852
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1970506
OMIM Entry Type	3
OMIM MimType Value	pound

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