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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 IAGP ClinVar Annotator: match by term: Autosomal dominant lamellar ichthyosis OMIM
ClinVar
PMID:6499258 PMID:32516568 NCBI chr 2:69,932,717...70,087,375
Ensembl chr 2:69,960,089...69,961,631
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20160
    sensory system disease 6129
      skin disease 3118
        ichthyosis 77
          Lamellar Ichthyosis, Autosomal Dominant Form 1
Path 2
Term Annotations click to browse term
  disease 20160
    disease of anatomical entity 18757
      nervous system disease 14794
        sensory system disease 6129
          skin disease 3118
            Skin Abnormalities 881
              ichthyosis 77
                Lamellar Ichthyosis, Autosomal Dominant Form 1
paths to the root