CODAS syndrome

Term ID

DOID:0111274

Synonyms

• 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

• GARD:1418
• MESH:C536434
• NCI:C126744
• OMIM:600373
• ORDO:1458
• SNOMEDCT_US_2023_03_01:717772000
• UMLS_CUI:C1838180

Ontology

Human Disease   ( DOID:0111274 )