|OBO ID: DOID:0112152|
|Term Name:||CHIME syndrome||Search Ontology:|
|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 PIGL on chromosome 17p11.2. https://pubmed.ncbi.nlm.nih.gov/22444671/|
|Ontology:||Human Disease (DOID:0112152)|
|is a type of:||
OTHER CHIME syndrome PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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