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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 Cilk1 ciliogenesis associated kinase 1 JBrowse link 8 85,413,998 85,473,374 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      endocrine-cerebro-osteodysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal recessive disease 2342
                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.