Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618063
http://purl.bioontology.org/ontology/OMIM/618063
Preferred Name

CILIARY DYSKINESIA, PRIMARY, 38
Synonyms
CILD38
CILIARY DYSKINESIA, PRIMARY, 38, WITH OR WITHOUT SITUS INVERSUS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CILD38
CILIARY DYSKINESIA, PRIMARY, 38, WITH OR WITHOUT SITUS INVERSUS
prefLabel
CILIARY DYSKINESIA, PRIMARY, 38
Gene Symbol
CILD38
CFAP300
C11orf70
Scope Statement
Caused by mutation in the cilia- and flagella-associated protein 300 (CFAP300, 618058.0001) [MOLECULAR BASIS]
Onset in early infancy [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU056014
http://purl.bioontology.org/ontology/OMIM/MTHU062248
http://purl.bioontology.org/ontology/OMIM/MTHU062249
http://purl.bioontology.org/ontology/OMIM/MTHU006969
http://purl.bioontology.org/ontology/OMIM/MTHU040903
http://purl.bioontology.org/ontology/OMIM/MTHU062253
http://purl.bioontology.org/ontology/OMIM/MTHU033962
http://purl.bioontology.org/ontology/OMIM/MTHU001474
http://purl.bioontology.org/ontology/OMIM/MTHU007150
http://purl.bioontology.org/ontology/OMIM/MTHU037624
http://purl.bioontology.org/ontology/OMIM/MTHU062252
http://purl.bioontology.org/ontology/OMIM/MTHU062251
http://purl.bioontology.org/ontology/OMIM/MTHU036345
http://purl.bioontology.org/ontology/OMIM/MTHU062250
http://purl.bioontology.org/ontology/OMIM/MTHU034418
http://purl.bioontology.org/ontology/OMIM/MTHU012038
http://purl.bioontology.org/ontology/OMIM/MTHU037263
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tui
T047
Gene Locus
11q22.11
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618063
Semantic type UMLS property
Has inheritance type
cui
C4748052
OMIM Entry Type
3
OMIM MimType Value
pound
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