Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
endocrine system
auditory system renal system |
| gptkbp:alsoKnownAs |
gptkb:HDR_syndrome
|
| gptkbp:characterizedBy |
gptkb:hypoparathyroidism
deafness renal dysplasia |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1977
A. Barakat |
| https://www.w3.org/2000/01/rdf-schema#label |
Barakat syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GATA3_gene
|
| gptkbp:OMIM |
146255
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
seizures
muscle cramps sensorineural hearing loss kidney malformations |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:GATA3_gene
gptkb:GATA3_protein gptkb:GATA_binding_protein_3 gptkb:hypoparathyroidism,_sensorineural_deafness,_and_renal_dysplasia_syndrome gptkb:HDR_syndrome gptkb:Gata3 gptkb:GATA-3 gptkb:hypoparathyroidism,_sensorineural_deafness,_and_renal_dysplasia_syndrome_(HDR_syndrome) |
| gptkbp:bfsLayer |
8
|