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DO Term : CODAS syndrome [DOID:0111274] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:600373,
  • MESH:C536434,
  • SNOMEDCT_US_2023_03_01:717772000,
  • UMLS_CUI:C1838180,
  • GARD:1418,
  • 600373,
  • cerebral, ocular, dental, auricular, and skeletal syndrome,
  • ORDO:1458,
  • NCI:C126744,
  • cerebro-oculo-dento-auriculo-skeletal syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents