Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
humans
|
| gptkbp:alsoKnownAs |
congenital analbuminemia
|
| gptkbp:causedBy |
mutations in the ALB gene
|
| gptkbp:characterizedBy |
very low or absent levels of serum albumin
|
| gptkbp:diagnosedBy |
genetic testing
serum albumin measurement |
| gptkbp:firstDescribed |
1949
|
| https://www.w3.org/2000/01/rdf-schema#label |
Analbuminemia
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:symptom |
edema
fatigue hyperlipidemia |
| gptkbp:treatment |
symptomatic management
albumin infusions |
| gptkbp:bfsParent |
gptkb:P22303
|
| gptkbp:bfsLayer |
7
|