MeSH Browser

MeSH Supplementary: Barakat syndrome
Unique ID: C537907
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537907
Entry Term(s): HDR syndrome; Hypoparathyroidism, Sensorineural Deafness, And Renal Disease; Nephrosis, nerve deafness, and hypoparathyroidism
Registry Number: 0
Heading Mapped to: *Hearing Loss, Sensorineural; *Hypoparathyroidism; *Nephrosis
Frequency: 36
Note: An autosomal dominant disorder characterized by sensorineural hearing loss, female genital abnormalities, renal abnormalities, and hypoparathyroidism. Inherited and de novo mutations resulting in HAPLOINSUFFICIENCY have been identified in the GATA3 gene. OMIM: 146255
Date of Entry: 2010/08/25
Revision Date: 2015/08/17

Barakat syndrome MeSH Supplementary Concept Data 2024