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DOID:0111274 - CODAS syndrome
Disease Ontology 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.
Synonyms: cerebral, ocular, dental, auricular, and skeletal syndrome, cerebro-oculo-dento-auriculo-skeletal syndrome,
Xenbase Genes
:
lonp1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)