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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 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          chondrodysplasia Blomstrand type 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                Osteochondroma 9
                  Osteochondromatosis 9
                    hereditary multiple exostoses 9
                      chondrodysplasia Blomstrand type 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.