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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
 narrow_synonym: DYSPLASTIC CORPUS CALLOSUM
 primary_id: MESH:C567210
 alt_id: OMIM:612651
 xref: ORDO:199332



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
ISS
ClinVar Annotator: match by term: Endocrine-cerebro-osteodysplasia syndrome
CTD Direct Evidence: marker/mechanism
OMIM:612651
ClinVar
CTD
MouseDO
OMIM
PMID:19185282 PMID:25741868 PMID:25741883 PMID:27069622 PMID:28492532 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 21155
    syndrome 10787
      endocrine-cerebro-osteodysplasia syndrome 3
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal recessive disease 6524
                endocrine-cerebro-osteodysplasia syndrome 3
paths to the root