OBO ID: DOID:0080256 |
Term Name: | Perrault syndrome 6 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0080256 ) |
OTHER Perrault syndrome 6 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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