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:Gracile Bone Dysplasia
go back to main search page
Accession:DOID:9008032 term browser browse the term
Synonyms:exact_synonym: GCLEB;   Habrodysplasia;   Osteocraniosplenic syndrome;   Osteocraniostenosis;   Skeletal dysplasia, lethal, with gracile bones
 primary_id: MESH:C537291;   RDO:0003108
 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 PMID:28492532 PMID:29073591 PMID:32165824 PMID:32996714 NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      bone development disease 1371
        Gracile Bone Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      Skin and Connective Tissue Diseases 5625
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              Gracile Bone Dysplasia 1
paths to the root