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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:acrorenal syndrome
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Accession:DOID:0060347 term browser browse the term
Definition:A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. (DO)
Synonyms:primary_id: MESH:C563159
 alt_id: OMIM:102520


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      acrorenal syndrome 0
        Acrorenal Syndrome Recessive 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        Congenital Abnormalities 7567
          Musculoskeletal Abnormalities 3287
            Congenital Limb Deformities 1021
              Congenital Upper Extremity Deformities 214
                Congenital Hand Deformities 185
                  acrorenal syndrome 0
                    Acrorenal Syndrome Recessive 0
paths to the root