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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
 xref: ORDO:199332
For additional species annotation, visit the Alliance of Genome Resources.


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endocrine-cerebro-osteodysplasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cilk1 ciliogenesis associated kinase 1 ISO ClinVar Annotator: match by term: Endocrine-cerebroosteodysplasia OMIM
ClinVar
PMID:19185282, PMID:27069622 NCBI chr 8:85,413,998...85,473,374
Ensembl chr 8:85,413,537...85,472,694
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      endocrine-cerebro-osteodysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                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.