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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:Ichthyosis Tapered Fingers Midline Groove Up
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Accession:DOID:9005279 term browser browse the term
Synonyms:exact_synonym: oral and digital anomalies with ichthyosis;   unusual facies, digital abnormalities, and ichthyosis
 primary_id: MESH:C536272
 alt_id: OMIM:258840



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        Musculoskeletal Abnormalities 5236
          Congenital Limb Deformities 1411
            Ichthyosis Tapered Fingers Midline Groove Up 0
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            skin disease 4874
              Skin Abnormalities 1802
                ichthyosis 153
                  Ichthyosis Tapered Fingers Midline Groove Up 0
paths to the root