Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Barakat_syndrome
|
| gptkbp:category |
genetic disorder
syndrome metabolic disorder |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1977
Barakat et al. |
| https://www.w3.org/2000/01/rdf-schema#label |
HDR syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:locatedOnChromosome |
gptkb:10p14
|
| gptkbp:mutationAssociatedWith |
gptkb:GATA3_gene
|
| gptkbp:OMIM |
146255
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoparathyroidism
renal dysplasia sensorineural deafness |
| gptkbp:treatment |
hearing aids
symptomatic management calcium and vitamin D supplementation renal management |
| gptkbp:bfsParent |
gptkb:ENSG00000111331
|
| gptkbp:bfsLayer |
7
|