Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/219700
http://purl.bioontology.org/ontology/OMIM/219700
Preferred Name

CYSTIC FIBROSIS
Synonyms
CF
MUCOVISCIDOSIS
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CF
MUCOVISCIDOSIS
prefLabel
CYSTIC FIBROSIS
Gene Symbol
CF
MRP7
CFTR
ABCC7
Scope Statement
Caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR, 602421.0001) [MOLECULAR BASIS]
Delta-F508 present in 70% of alleles [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU013599
http://purl.bioontology.org/ontology/OMIM/MTHU013605
http://purl.bioontology.org/ontology/OMIM/MTHU013604
http://purl.bioontology.org/ontology/OMIM/MTHU013594
http://purl.bioontology.org/ontology/OMIM/MTHU067571
http://purl.bioontology.org/ontology/OMIM/MTHU037261
http://purl.bioontology.org/ontology/OMIM/MTHU007934
http://purl.bioontology.org/ontology/OMIM/MTHU067570
http://purl.bioontology.org/ontology/OMIM/MTHU037358
http://purl.bioontology.org/ontology/OMIM/MTHU013593
http://purl.bioontology.org/ontology/OMIM/MTHU013602
http://purl.bioontology.org/ontology/OMIM/MTHU003537
http://purl.bioontology.org/ontology/OMIM/MTHU013603
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU005834
http://purl.bioontology.org/ontology/OMIM/MTHU013600
http://purl.bioontology.org/ontology/OMIM/MTHU013598
http://purl.bioontology.org/ontology/OMIM/MTHU007637
http://purl.bioontology.org/ontology/OMIM/MTHU037263
http://purl.bioontology.org/ontology/OMIM/MTHU013601
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tui
T047
Gene Locus
7q31.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
219700
Semantic type UMLS property
Has inheritance type
cui
C0010674
OMIM Entry Type
3
OMIM MimType Value
pound
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