Search Ontology:
Human Disease
CODAS syndrome
- Term ID
- DOID:0111274
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/25574826
- References
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- GARD:1418
- MESH:C536434
- MIM:600373
- NCI:C126744
- ORDO:1458
- SNOMEDCT_US_2023_03_01:717772000
- UMLS_CUI:C1838180
- Ontology
- Human Disease ( DOID:0111274 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models