Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620642
http://purl.bioontology.org/ontology/OMIM/620642
Preferred Name

CILIARY DYSKINESIA, PRIMARY, 53
Synonyms
CILD53
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CILD53
prefLabel
CILIARY DYSKINESIA, PRIMARY, 53
Gene Symbol
CILD53
CLXN
EFCAB1
Scope Statement
Caused by mutation in the calaxin gene (CLXN, 619564.0001) [MOLECULAR BASIS]
Based on a description of 2 unrelated patients and 1 deceased fetus (last curated November 2023) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU077906
http://purl.bioontology.org/ontology/OMIM/MTHU036393
http://purl.bioontology.org/ontology/OMIM/MTHU023565
http://purl.bioontology.org/ontology/OMIM/MTHU077972
http://purl.bioontology.org/ontology/OMIM/MTHU020426
http://purl.bioontology.org/ontology/OMIM/MTHU001474
http://purl.bioontology.org/ontology/OMIM/MTHU002638
http://purl.bioontology.org/ontology/OMIM/MTHU037624
http://purl.bioontology.org/ontology/OMIM/MTHU072563
http://purl.bioontology.org/ontology/OMIM/MTHU077973
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU004395
http://purl.bioontology.org/ontology/OMIM/MTHU006865
http://purl.bioontology.org/ontology/OMIM/MTHU036338
http://purl.bioontology.org/ontology/OMIM/MTHU075127
http://purl.bioontology.org/ontology/OMIM/MTHU000730
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tui
T047
Gene Locus
8q11.21
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620642
Semantic type UMLS property
Has inheritance type
cui
C5882728
OMIM Entry Type
3
OMIM MimType Value
pound
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