Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   MESH:C565749
 alt_id: OMIM:604777;   RDO:0003070;   RDO:0014305
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 ClinVar Annotator: match by term: Lamellar ichthyosis, type 3
ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 5
OMIM
ClinVar
PMID:16436457 PMID:18034255 PMID:22992804 PMID:23621129 PMID:23871423 PMID:24397709 PMID:25741868 PMID:25998749 PMID:26762237 PMID:27025581 PMID:27449533 PMID:27735052 PMID:28492532 PMID:30011118 PMID:33223529 NCBI chr 7:14,435,024...14,514,960
Ensembl chr 7:14,441,476...14,515,212
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      autosomal recessive congenital ichthyosis 29
        autosomal recessive congenital ichthyosis 5 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            Skin Abnormalities 633
              ichthyosis 62
                autosomal recessive congenital ichthyosis 29
                  autosomal recessive congenital ichthyosis 5 1
paths to the root