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ONTOLOGY REPORT - ANNOTATIONS


Term:endocrine-cerebro-osteodysplasia syndrome
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Accession:DOID:0060641 term browser browse the term
Definition:A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. (DO)
Synonyms:exact_synonym: ECO;   ECO syndrome;   Endocrine-Cerebroosteodysplasia
 primary_id: MESH:C567210
 alt_id: OMIM:612651;   RDO:0015349
 xref: ORDO:199332
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endocrine-cerebro-osteodysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ick intestinal cell kinase JBrowse link 8 85,413,998 85,473,374 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 15590
    syndrome 5131
      endocrine-cerebro-osteodysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        genetic disease 6993
          monogenic disease 4551
            autosomal genetic disease 3501
              autosomal recessive disease 1974
                endocrine-cerebro-osteodysplasia 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.