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Preferred Name

CYSTIC FIBROSIS
Synonyms

MUCOVISCIDOSIS
ID

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

MUCOVISCIDOSIS

CF
cui

C0010674
Gene Locus

7q31.2
Gene Symbol

MRP7

CFTR

ABCC7

CF
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU005834

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU007637

http://purl.bioontology.org/ontology/OMIM/MTHU013605

http://purl.bioontology.org/ontology/OMIM/MTHU007934

http://purl.bioontology.org/ontology/OMIM/MTHU013594

http://purl.bioontology.org/ontology/OMIM/MTHU013599

http://purl.bioontology.org/ontology/OMIM/MTHU067571

http://purl.bioontology.org/ontology/OMIM/MTHU037263

http://purl.bioontology.org/ontology/OMIM/MTHU013600

http://purl.bioontology.org/ontology/OMIM/MTHU037261

http://purl.bioontology.org/ontology/OMIM/MTHU013603

http://purl.bioontology.org/ontology/OMIM/MTHU037358

http://purl.bioontology.org/ontology/OMIM/MTHU013598

http://purl.bioontology.org/ontology/OMIM/MTHU003537

http://purl.bioontology.org/ontology/OMIM/MTHU013602

http://purl.bioontology.org/ontology/OMIM/MTHU067570

http://purl.bioontology.org/ontology/OMIM/MTHU013604

http://purl.bioontology.org/ontology/OMIM/MTHU013593

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/ICD10CM/E84 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bioontology.org/ontology/ICD10CM/E84 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2975 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bmicc.cn/ontology/ICD10CN/E84.9 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/E84.9 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://purl.bmicc.cn/ontology/ICD10CN/E84 《国际疾病分类》第10版中文版 / International Classification of Diseases, 10th Edition, China CUI
http://www.orpha.net/ORDO/Orphanet_586 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009061 GenEpiO / 基因组流行病学本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA22202-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LA22202-8 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/CA25 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.obolibrary.org/obo/DOID_1485 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_1485 Ontology of Drug Adverse Events / 药物不良反应本体 LOOM
http://purl.obolibrary.org/obo/DOID_1485 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D003550 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D003550 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674 MedlinePlus Health Topics / MedlinePlus网站健康主题 CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0010674 MedlinePlus Health Topics / MedlinePlus网站健康主题 LOOM
http://purl.bioontology.org/ontology/ICD10/E84 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/ICD10/E84 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 LOOM
http://purl.bioontology.org/ontology/ICD10/E84.9 International Classification of Diseases, Version 10 / 《国际疾病分类》第10版 CUI
http://purl.bioontology.org/ontology/LNC/MTHU021607 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/MTHU021607 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/LNC/LP56779-9 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LP56779-9 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM