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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:autosomal recessive congenital ichthyosis 5
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Accession:DOID:0060714 term browser browse the term
Definition:An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: ARCI5;   LI3;   NNCI;   autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis;   ichthyosis congenita 3;   ichthyosis congenita III;   lamellar ichthyosis 3;   lamellar ichthyosis, type 3
 primary_id: MESH:C537265
 alt_id: MESH:C565749;   OMIM:604777


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autosomal recessive congenital ichthyosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive OMIM
ClinVar		 PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 More... NCBI chr19:15,039,212...15,083,771
Ensembl chr19:16,041,583...16,068,490 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      autosomal recessive congenital ichthyosis 50
        autosomal recessive congenital ichthyosis 5 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6624
            skin disease 3772
              Skin Abnormalities 1284
                ichthyosis 89
                  autosomal recessive congenital ichthyosis 50
                    autosomal recessive congenital ichthyosis 5 1
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