ONTOLOGY REPORT - ANNOTATIONS


Term:endocrine-cerebro-osteodysplasia syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      endocrine-cerebro-osteodysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          endocrine-cerebro-osteodysplasia syndrome 1
paths to the root

NHLBI Logo

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