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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;   MIM: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 Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5 | ClinVar Annotator: match by term: Ichthyosis congenita III | ClinVar Annotator: match by term: Ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 More... NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    physical disorder 5180
      autosomal recessive congenital ichthyosis 54
        autosomal recessive congenital ichthyosis 5 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        Neurologic Manifestations 10421
          sensory system disease 7330
            skin disease 4309
              Skin Abnormalities 1314
                ichthyosis 94
                  autosomal recessive congenital ichthyosis 54
                    autosomal recessive congenital ichthyosis 5 1
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