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CODAS syndrome
Summary
- Synonym
-
- cerebral, ocular, dental, auricular, and skeletal syndrome
- cerebro-oculo-dento-auriculo-skeletal syndrome
- Definition
- A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111274
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
