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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:Gracile Bone Dysplasia
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Accession:DOID:9008032 term browser browse the term
Synonyms:exact_synonym: GCLEB;   Habrodysplasia;   Osteocraniosplenic syndrome;   Osteocraniostenosis;   lethal skeletal dysplasia with gracile bones
 primary_id: MESH:C537291
 alt_id: OMIM:602361
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Gracile Bone Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by OMIM:602361
ClinVar Annotator: match by term: Osteocraniostenosis
OMIM
ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      bone development disease 1424
        Gracile Bone Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Skin and Connective Tissue Diseases 5861
        connective tissue disease 4445
          bone disease 3122
            bone development disease 1424
              Gracile Bone Dysplasia 1
paths to the root