Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
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. (DO)
Synonyms:exact_synonym: ECO;   ECO syndrome;   endocrine-cerebroosteodysplasia
 narrow_synonym: DYSPLASTIC CORPUS CALLOSUM
 primary_id: MESH:C567210
 alt_id: OMIM:612651
 xref: ORDO:199332
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:25741883 PMID:27069622 NCBI chr 8:78,984,075...79,042,695
Ensembl chr 8:78,984,258...79,042,691
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Dysplastic corpus callosum ClinVar PMID:25741868 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Otud5 OTU deubiquitinase 5 ISO ClinVar Annotator: match by term: Dysplastic corpus callosum ClinVar PMID:25741868 NCBI chr  X:14,626,173...14,659,331
Ensembl chr  X:14,626,164...14,659,573
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      endocrine-cerebro-osteodysplasia syndrome 3
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal recessive disease 3444
                endocrine-cerebro-osteodysplasia syndrome 3
paths to the root