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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: DOID:9007679;   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 ClinVar
OMIM
PMID:1887855, PMID:25574826, PMID:25741868, PMID:25741869 NCBI chr 9:10,428,853...10,441,180
Ensembl chr 9:10,428,853...10,441,177
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      CODAS syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                CODAS syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.