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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:chondrodysplasia Blomstrand type
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Accession:DOID:0060387 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO)
Synonyms:exact_synonym: BOCD;   Blomstrand lethal chondrodysplasia;   Blomstrand lethal osteochondrodysplasia;   Blomstrand osteochondrodysplasia;   Blomstrand syndrome;   Lethal congenital dwarfism with accelerated skeletal maturation
 primary_id: MESH:C537914
 alt_id: OMIM:215045;   RDO:0003832
 xref: GARD:914;   NCI:C131420;   ORDO:50945
For additional species annotation, visit the Alliance of Genome Resources.


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chondrodysplasia Blomstrand type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth1r parathyroid hormone 1 receptor ISO ClinVar Annotator: match by OMIM:215045
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type
ClinVar
OMIM
PMID:3975110 PMID:9268097 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:18559376 PMID:25741868 PMID:28492532 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          chondrodysplasia Blomstrand type 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                Osteochondroma 9
                  Osteochondromatosis 9
                    hereditary multiple exostoses 9
                      chondrodysplasia Blomstrand type 1
paths to the root