OBO ID: DOID:0080624 |
Term Name: | Heimler syndrome 2 | Search Ontology: | |
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Definition: | A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. https://www.ncbi.nlm.nih.gov/pubmed/16530715 | ||
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Ontology: | Human Disease ( DOID:0080624 ) |
OTHER Heimler syndrome 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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