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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


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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 ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis OMIM
ClinVar		 PMID:6499258 PMID:32516568 NCBI chr 4:119,077,415...119,078,887
Ensembl chr 4:119,077,356...119,078,379 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        keratosis 185
          ichthyosis 91
            Lamellar Ichthyosis, Autosomal Dominant Form 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Skin Abnormalities 1298
                ichthyosis 91
                  Lamellar Ichthyosis, Autosomal Dominant Form 1
paths to the root