Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

CYSTIC FIBROSIS
Synonyms

CF

MUCOVISCIDOSIS
ID

http://purl.bioontology.org/ontology/OMIM/219700
altLabel

CF

MUCOVISCIDOSIS
cui

C0010674
Gene Locus

7q31.2
Gene Symbol

CF

MRP7

CFTR

ABCC7
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

219700
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

CYSTIC FIBROSIS
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]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/CSP/1849-2089 CRISP CUI
http://purl.bioontology.org/ontology/ICD10CM/E84.9 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/E84 ICD10 CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000890 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10028141 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10011762 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/E84.9 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10011764 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D003550 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/190905008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/ICPC2P/T99064 ICPC2P CUI
http://purl.bioontology.org/ontology/LNC/LA22202-8 LOINC CUI
http://purl.bioontology.org/ontology/LNC/MTHU021607 LOINC CUI
http://purl.bioontology.org/ontology/ICPC2P/T99053 ICPC2P CUI
http://purl.bioontology.org/ontology/LNC/LP56779-9 LOINC CUI
http://purl.bioontology.org/ontology/MESH/D003550 MESH CUI
http://purl.bioontology.org/ontology/WHOFRE/0787 WHOFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E84 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10011764 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-94800 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10011762 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/PANCREAS%20DIS COSTART CUI
http://purl.bioontology.org/ontology/MEDDRA/10011762 MEDDRA CUI
http://purl.bioontology.org/ontology/WHO/0787 WHO-ART CUI
http://purl.bioontology.org/ontology/MEDDRA/10028141 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10028141 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD9CM/277.0 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRGER/10011764 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/190905008 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/C370. RCD CUI
http://www.projecthalo.com/aura#Cystic-Fibrosis AURA LOOM
http://purl.obolibrary.org/obo/DOID_1485 CLO LOOM
http://purl.obolibrary.org/obo/DOID_1485 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1485 DOID LOOM
http://purl.obolibrary.org/obo/DOID_1485 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1485 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1485 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1485 ODAE LOOM
http://purl.obolibrary.org/obo/DOID_1485 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1485 FNS-H LOOM
http://purl.bioontology.org/ontology/CSP/1849-2089 CRISP LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0010674 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036774 PMAPP-PMO LOOM
http://nanbyodata.jp/ontology/NANDO_1201021 NANDO LOOM
http://www.ebi.ac.uk/efo/EFO_0000390 CLO LOOM
http://purl.bioontology.org/ontology/ICD10/E84 ICD10 LOOM
rgo:00559 GAMUTS LOOM
http://radlex.org/RID/RID34638 RADLEX LOOM
http://pat.nichd.nih.gov/maternalconditions/C0010674 PATMHC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.614.213 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C08.381.187 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190905008 PNADO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190905008 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.190 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/LNC/LA22202-8 LOINC LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021607 LOINC LOOM
http://purl.bioontology.org/ontology/ICPC2P/T99053 ICPC2P LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1485 NATPRO LOOM
http://www.owl-ontologies.com/unnamed.owl#RID17713 DERMLEX LOOM
http://nanbyodata.jp/ontology/NANDO_2200205 NANDO LOOM
http://purl.bioontology.org/ontology/LNC/LP56779-9 LOINC LOOM
http://localhost/plosthes.2017-1#1670 PLOSTHES LOOM
http://www.radlex.org/RID/RID34638 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C06.689.202 RH-MESH LOOM
http://purl.bioontology.org/ontology/MESH/D003550 MESH LOOM
http://www.limics.fr/ontologies/ontolurgences#FibroseKystique ONTOLURGENCES LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 GENEPIO LOOM
http://nanbyodata.jp/ontology/NANDO_2100035 NANDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E84 ICD10CM LOOM
http://www.orpha.net/ORDO/Orphanet_586 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/C370.00 RCTV2 LOOM
urn:agi-folder:cystic_fibrosis BPT LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Cystic_Fibrosis PEDTERM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2975 NCIT LOOM
http://purl.bioontology.org/ontology/NLMVS/2.16.840.1.113883.3.464.1003.102.12.1002 NLMVS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Cystic_Fibrosis APADISORDERS LOOM
http://ontology.apa.org/apaonto/termsonlyOUT%20(5).owl#Cystic_Fibrosis APAONTO LOOM
http://purl.bioontology.org/ontology/SNMI/D6-94800 SNMI LOOM
http://purl.obolibrary.org/obo/OMIT_0004836 OMIT LOOM
http://www.co-ode.org/ontologies/galen#CysticFibrosis GALEN LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D003550 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_1200922 NANDO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10011762 MEDDRA LOOM
http://purl.obolibrary.org/obo/OMIM_219700 CCO LOOM
http://purl.jp/bio/4/id/200906061608250536 IOBC LOOM
http://identifiers.org/omim/219700 REXO LOOM
http://identifiers.org/omim/219700 GEXO LOOM
http://identifiers.org/omim/219700 RETO LOOM
http://purl.bioontology.org/ontology/ICD9CM/277.0 ICD9CM LOOM
http://purl.obolibrary.org/obo/NCIT_C2975 BERO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#3553 OCHV LOOM
http://purl.bioontology.org/ontology/RCD/C370. RCD LOOM
http://www.owl-ontologies.com/assert.owl#Cystic_fibrosis ONTOKBCF LOOM
http://www.limics.org/hrdo/rdfns#pat_id_49 HRDO LOOM