Codas Syndrome

Preferred Label : Codas Syndrome;

NCIt definition : A rare syndrome caused by mutations in the LONP1 gene. It is characterized by developmental delay, cerebral, ocular, dental, auricular, and skeletal abnormalities.;

Details

Origin ID

C126744;

UMLS CUI

C1838180;

Automatic exact mappings (from CISMeF team)
- CODAS syndrome [DO Concept]
Currated CISMeF NLP mapping
- CODAS syndrome [MeSH Supplementary Concept]
- CODAS syndrome [MeSH concept]
- CODAS syndrome [ORDO Disease]
- Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) [SNOMED CT concept]
- Codas syndrome [OMIM Phenotype]
DO Cross reference
- CODAS syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CODAS syndrome [ORDO Disease]
- CODAS syndrome [MeSH Supplementary Concept]
- CODAS syndrome [MeSH concept]
- CODAS syndrome [DO Concept]
- Cerebro-oculo-dento-auriculo-skeletal syndrome (disorder) [SNOMED CT concept]
- Codas syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- LONP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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