OBO ID: DOID:0112152 |
Term Name: | CHIME syndrome | Search Ontology: | |
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Definition: | A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. https://pubmed.ncbi.nlm.nih.gov/22444671/ | ||
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Ontology: | Human Disease ( DOID:0112152 ) |
OTHER CHIME syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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