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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:craniodiaphyseal dysplasia
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Accession:DOID:0080032 term browser browse the term
Definition:An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. (DO)
Synonyms:primary_id: MESH:C562940
 alt_id: MIM:218300
 xref: GARD:1567


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autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant		 OMIM
CTD
ClinVar		 PMID:17853455 PMID:21221996 PMID:25741868 NCBI chr10:86,912,517...86,915,561
Ensembl chr10:86,911,517...86,915,561 		JBrowse link
CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Craniometadiaphyseal osteosclerosis with hip dysplasia OMIM
ClinVar		 PMID:25741868 PMID:37582359 NCBI chr10:15,163,477...15,215,615
Ensembl chr10:15,163,684...15,215,615 		JBrowse link
craniotubular dysplasia Ikegawa type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem53 transmembrane protein 53 ISO
ISS		 ClinVar Annotator: match by term: Craniotubular dysplasia, Ikegawa type | ClinVar Annotator: match by term: TMEM53-related craniotubular dysplasia
OMIM:619727		 ClinVar
MouseDO
OMIM		 PMID:25741868 PMID:33824347 NCBI chr 5:130,721,780...130,737,692
Ensembl chr 5:130,721,659...130,737,692 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      musculoskeletal system disease 8463
        Musculoskeletal Abnormalities 3456
          Craniofacial Abnormalities 2777
            craniodiaphyseal dysplasia 3
              CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA 1
              autosomal dominant craniodiaphyseal dysplasia 1
              craniotubular dysplasia Ikegawa type 1
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Skin and Connective Tissue Diseases 7769
        connective tissue disease 5917
          bone disease 4362
            bone development disease 2385
              osteochondrodysplasia 881
                osteosclerosis 60
                  craniodiaphyseal dysplasia 3
                    CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA 1
                    autosomal dominant craniodiaphyseal dysplasia 1
                    craniotubular dysplasia Ikegawa type 1
paths to the root