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ONTOLOGY REPORT - ANNOTATIONS


Term:CODAS syndrome
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Accession:DOID:0111274 term browser browse the term
Definition:An autosomal recessive disease 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 syndrome;   cerebral, ocular, dental, auricular, and skeletal anomalies syndrome;   cerebral, ocular, dental, auricular, skeletal anomalies syndrome;   cerebro-oculo-dento-auriculo-skeletal syndrome
 primary_id: MESH:C536434
 alt_id: DOID:9007679;   OMIM:600373;   RDO:0002027
 xref: GARD:1418;   ORDO:1458
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CODAS syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lonp1 lon peptidase 1, mitochondrial JBrowse link 9 10,428,853 10,441,180 RGD:8554872
RGD:7240710

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Path 1
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  disease 15620
    syndrome 5159
      CODAS syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                CODAS syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.