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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
 broad_synonym: FAM111A-RELATED CONDITION
 primary_id: MESH:C537291
 alt_id: OMIM:602361


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FAM111A-related condition | ClinVar Annotator: match by term: Osteocraniostenosis		 OMIM
CTD
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 18969
    Developmental Disease 14400
      bone development disease 2307
        Gracile Bone Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Skin and Connective Tissue Diseases 7461
        connective tissue disease 5786
          bone disease 4302
            bone development disease 2307
              Gracile Bone Dysplasia 1
paths to the root