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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:CODAS syndrome
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Accession:DOID:0111274 term browser browse the term
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. (DO)
Synonyms:exact_synonym: cerebral, ocular, dental, auricular, and skeletal anomalies syndrome;   cerebral, ocular, dental, auricular, and skeletal syndrome;   cerebral, ocular, dental, auricular, skeletal anomalies syndrome;   cerebro-oculo-dento-auriculo-skeletal syndrome
 primary_id: MESH:C536434
 alt_id: OMIM:600373
 xref: GARD:1418;   NCI:C126744;   ORDO:1458
For additional species annotation, visit the Alliance of Genome Resources.



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CODAS syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CODAS syndrome OMIM
ClinVar
PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 More... NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      CODAS syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                CODAS syndrome 1
paths to the root