OBO ID: DOID:0110003 |
Term Name: | 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia | Search Ontology: | |
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Definition: | A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/25597510 | ||
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Ontology: | Human Disease (DOID:0110003) |
OTHER 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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