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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: MIM:201170;   RDO:0004126
 xref: GARD:496;   ORDO:1788


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      musculoskeletal system disease 8494
        Hand Deformities 206
          Congenital Hand Deformities 203
            acrofacial dysostosis Rodriguez type 0
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      Skin and Connective Tissue Diseases 7814
        connective tissue disease 5963
          bone disease 4417
            bone development disease 2378
              dysostosis 633
                synostosis 398
                  craniosynostosis 333
                    Crouzon syndrome 30
                      Mandibulofacial Dysostosis 24
                        acrofacial dysostosis Rodriguez type 0
paths to the root