hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome (HDR syndrome)
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
endocrine system
auditory system renal system |
| gptkbp:alsoKnownAs |
gptkb:Barakat_syndrome
|
| gptkbp:category |
genetic disorder
syndrome |
| gptkbp:firstDescribed |
1977
Barakat et al. |
| https://www.w3.org/2000/01/rdf-schema#label |
hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome (HDR syndrome)
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GATA3_gene
|
| gptkbp:OMIM |
146255
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
gptkb:hypoparathyroidism
renal dysplasia sensorineural deafness |
| gptkbp:treatment |
hearing aids
calcium supplementation vitamin D supplementation renal management |
| gptkbp:bfsParent |
gptkb:GATA3
|
| gptkbp:bfsLayer |
7
|