Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
OMIM entry
|
| gptkbp:alternativeName |
gptkb:Mucoviscidosis
CF Fibrocystic disease of pancreas Cystic fibrosis of pancreas Cystic fibrosis, classic Pancreas fibrocystic disease |
| gptkbp:containsGene |
gptkb:CFTR
|
| gptkbp:Entrez_Gene_ID |
1080
|
| gptkbp:firstDescribed |
1938
|
| gptkbp:gene |
gptkb:CFTR
|
| gptkbp:hasClinicalSynopsis |
Cystic fibrosis is characterized by chronic pulmonary disease, exocrine pancreatic insufficiency, elevated sweat chloride, and male infertility.
|
| gptkbp:hasGeneFullName |
cystic fibrosis transmembrane conductance regulator
|
| gptkbp:hasGeneOMIM |
602421
|
| gptkbp:hasMIMNumber |
160790
|
| gptkbp:hasOMIMEntryType |
phenotype
|
| gptkbp:hasPhenotype |
male infertility
elevated sweat chloride chronic pulmonary disease exocrine pancreatic insufficiency |
| https://www.w3.org/2000/01/rdf-schema#label |
OMIM:160790
|
| gptkbp:inheritance |
autosomal recessive
Mendelian |
| gptkbp:locatedOnChromosome |
7q31.2
|
| gptkbp:referencedIn |
PMID:19833552
PMID:20301463 PMID:23974870 |
| gptkbp:title |
gptkb:Cystic_Fibrosis
|
| gptkbp:bfsParent |
gptkb:P05981
|
| gptkbp:bfsLayer |
8
|