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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:Lamellar Ichthyosis, Autosomal Dominant Form
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Accession:DOID:9003075 term browser browse the term
Synonyms:exact_synonym: ADLI;   autosomal-dominant lamellar ichthyosis;   lamellar ichthyosis, dominant;   nonbullous ichthyosiform erythroderma, dominant form
 primary_id: MESH:C537263
 alt_id: OMIM:146750
For additional species annotation, visit the Alliance of Genome Resources.


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Lamellar Ichthyosis, Autosomal Dominant Form term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asprv1 aspartic peptidase retroviral like 1 ISO OMIM NCBI chrNW_004936491:14,170,232...14,171,830 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12837
    sensory system disease 4806
      skin disease 2477
        ichthyosis 53
          Lamellar Ichthyosis, Autosomal Dominant Form 1
Path 2
Term Annotations click to browse term
  disease 12837
    disease of anatomical entity 12515
      nervous system disease 10404
        sensory system disease 4806
          skin disease 2477
            Skin Abnormalities 587
              ichthyosis 53
                Lamellar Ichthyosis, Autosomal Dominant Form 1
paths to the root