Autosomal dominant hypocalcemia type 2
GPTKB entity
Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
calcium homeostasis
|
| gptkbp:alternativeName |
ADH2
|
| gptkbp:causedBy |
mutation in GNA11 gene
|
| gptkbp:hasGeneticBasis |
GNA11 gene mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
Autosomal dominant hypocalcemia type 2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
615361
|
| gptkbp:subspecies |
gptkb:autosomal_dominant_hypocalcemia
|
| gptkbp:symptom |
seizures
muscle cramps hypocalcemia tetany |
| gptkbp:treatment |
active vitamin D analogs
calcium supplementation |
| gptkbp:bfsParent |
gptkb:GNA11
|
| gptkbp:bfsLayer |
7
|