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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:OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
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Accession:DOID:9000260 term browser browse the term
Definition:A disease displaying severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly. (OMIM)
Synonyms:exact_synonym: OCLSBG;   Symoens-Barnes-Gistelinck type of complex lethal osteochondrodysplasia
 primary_id: OMIM:616897;   RDO:9001172
For additional species annotation, visit the Alliance of Genome Resources.


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OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tapt1 transmembrane anterior posterior transformation 1 ISO ClinVar Annotator: match by term: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
ClinVar Annotator: match by term: Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
ClinVar
OMIM
PMID:25741868, PMID:26365339 NCBI chr14:71,416,153...71,462,646
Ensembl chr14:71,424,083...71,462,618
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      bone development disease 1329
        osteochondrodysplasia 435
          OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE 1
paths to the root

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