hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome (HDR syndrome)

URI: https://gptkb.org/entity/hypoparathyroidism,_sensorineural_deafness,_and_renal_dysplasia_syndrome_(HDR_syndrome)
GPTKB entity
Statements (23)
Predicate Object
gptkbp:instanceOf gptkb:rare_disease
gptkbp:affects endocrine system
auditory system
renal system
gptkbp:alsoKnownAs gptkb:Barakat_syndrome
gptkbp:category gptkb:syndrome
gptkb:genetic_disorder
gptkbp:firstDescribed 1977
Barakat et al.
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 8
https://www.w3.org/2000/01/rdf-schema#label hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome (HDR syndrome)