OBO ID: DOID:0080256
Term Name: Perrault syndrome 6 Search Ontology:
Synonyms:
Definition: A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. https://pubmed.ncbi.nlm.nih.gov/28449065/
References:
Ontology: Human Disease   (DOID:0080256)
OTHER Perrault syndrome 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ERAL1 Perrault syndrome 6 617565
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None