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Metadata
ID DOID:0111274
Name CODAS 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
Xrefs

GARD:1418

MESH:C536434

NCI:C126744

OMIM:600373

ORDO:1458

SNOMEDCT_US_2023_03_01:717772000

UMLS_CUI:C1838180

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

cerebral, ocular, dental, auricular, and skeletal syndrome [EXACT]

cerebro-oculo-dento-auriculo-skeletal syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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