# hypoparathyroidism-deafness-renal disease syndrome

> characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14

**Wikidata**: [Q2027515](https://www.wikidata.org/wiki/Q2027515)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Barakat_syndrome)  
**Source**: https://4ort.xyz/entity/hypoparathyroidism-deafness-renal-disease-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. GATA3 haplo-insufficiency causes human HDR syndrome
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/afb6e0d5-81a5-439a-a498-9edc8505a367--2019-06-18T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_afb6e0d5-81a5-439a-a498-9edc8505a367-2019-06-18T160000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000107485/MONDO_0007797)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000107485/Orphanet_2237)
10. [Identifiers.org](https://registry.identifiers.org/registry/doid)
11. Quora