HPT, hypoparathyroidism, 3258

N. diseases: 71; N. variants: 0
Disease: Barakat syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		0.020 Biomarker disease BEFREE Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is a rare autosomal dominant disorder primarily caused by GATA3 haploinsufficiency and is challenging to diagnose in early childhood. 30396722 2019
CUI: C1840333
Disease: Barakat syndrome
Barakat syndrome 		0.020 Biomarker disease BEFREE Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR) syndrome is an autosomal dominant condition caused by mutations of the gene encoding the dual zinc-finger transcription factor, GATA3. 29593425 2018