Terminology Service for NFDI4Health
Barakat Syndrome
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http://purl.obolibrary.org/obo/NCIT_C130983
A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys. [ ]
Term info
Label
Barakat Syndrome
Synonyms
- Barakat Syndrome
- Hypoparathyroidism, Deafness, and Renal Anomalies Syndrome
Subsets
NCIT_C90259, NCIT_C118467
ALT DEFINITION
A condition characterized by hypoparathyroidism, sensorineural deafness, and renal failure. It is related to autosomal dominant inactivating mutation(s) in GATA3, encoding a transcription factor important for the embryonic development of the parathyroid gland, the auditory stem, and the kidneys.
Contributing Source
NICHD
Has NICHD Parent
http://purl.obolibrary.org/obo/NCIT_C28193
NICHD Hierarchy Term
Barakat Syndrome
Preferred Name
Barakat Syndrome
Semantic Type
Disease or Syndrome
UMLS CUI
C1840333
code
C130983