Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/614779
http://purl.bioontology.org/ontology/OMIM/614779
Preferred Name

HETEROTAXY, VISCERAL, 6, AUTOSOMAL
Synonyms
HTX6
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HTX6
prefLabel
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
Gene Symbol
CCDC11
CFAP53
HTX6
Scope Statement
Caused by mutation in the cilia- and flagella-associated protein 53 gene (CFAP53, 614759.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
Intrafamilial variable expressivity [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU013181
http://purl.bioontology.org/ontology/OMIM/MTHU040272
http://purl.bioontology.org/ontology/OMIM/MTHU069441
http://purl.bioontology.org/ontology/OMIM/MTHU069440
http://purl.bioontology.org/ontology/OMIM/MTHU037189
http://purl.bioontology.org/ontology/OMIM/MTHU004506
http://purl.bioontology.org/ontology/OMIM/MTHU007549
http://purl.bioontology.org/ontology/OMIM/MTHU040270
http://purl.bioontology.org/ontology/OMIM/MTHU074979
http://purl.bioontology.org/ontology/OMIM/MTHU004095
http://purl.bioontology.org/ontology/OMIM/MTHU074977
http://purl.bioontology.org/ontology/OMIM/MTHU040269
http://purl.bioontology.org/ontology/OMIM/MTHU037624
http://purl.bioontology.org/ontology/OMIM/MTHU013515
http://purl.bioontology.org/ontology/OMIM/MTHU011729
http://purl.bioontology.org/ontology/OMIM/MTHU074980
http://purl.bioontology.org/ontology/OMIM/MTHU040268
http://purl.bioontology.org/ontology/OMIM/MTHU074978
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tui
T047
Gene Locus
18q21.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
614779
Semantic type UMLS property
Has inheritance type
cui
C3553676
OMIM Entry Type
3
OMIM MimType Value
pound
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