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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 (ICK). (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

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Path 1
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  disease 14759
    syndrome 4210
      endocrine-cerebro-osteodysplasia syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          endocrine-cerebro-osteodysplasia syndrome 1
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