hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
URI: https://gptkb.org/entity/hypoparathyroidism,_sensorineural_deafness,_and_renal_dysplasia_syndrome
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
gptkb:HDR_syndrome
gptkb:Barakat_syndrome |
| gptkbp:firstDescribed |
1977
Barakat et al. |
| https://www.w3.org/2000/01/rdf-schema#label |
hypoparathyroidism, sensorineural deafness, and renal dysplasia 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
vitamin D calcium supplementation renal management |
| gptkbp:bfsParent |
gptkb:ENSG00000111341
gptkb:ENSG00000113721 |
| gptkbp:bfsLayer |
7
|