Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111274 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models