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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:acrofacial dysostosis Rodriguez type
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Accession:DOID:0060383 term browser browse the term
Definition:An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: Acrofacial Dysostosis Syndrome Of Rodriguez;   Rodriguez lethal acrofacial dysostosis syndrome
 primary_id: MESH:C538183
 alt_id: OMIM:201170;   RDO:0004126
 xref: GARD:496;   ORDO:1788
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13427
    Developmental Diseases 9433
      bone development disease 1350
        dysostosis 346
          acrofacial dysostosis 4
            acrofacial dysostosis Rodriguez type 0
Path 2
Term Annotations click to browse term
  disease 13427
    disease of anatomical entity 12903
      Skin and Connective Tissue Diseases 5018
        connective tissue disease 3767
          bone disease 3199
            bone development disease 1350
              dysostosis 346
                synostosis 231
                  craniosynostosis 179
                    Crouzon syndrome 25
                      Mandibulofacial Dysostosis 19
                        acrofacial dysostosis Rodriguez type 0
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.