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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:ichthyosis vulgaris
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Accession:DOID:1702 term browser browse the term
Definition:An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. (DO)
Synonyms:exact_synonym: ichthyosis simplex;   ichthyosis simplices
 narrow_synonym: autosomal dominant ichthyosis vulgaris;   dominant congenital ichthyosiform erythroderma;   dominant ichthyosis vulgaris
 broad_synonym: FLG-RELATED CONDITION;   FLG-RELATED DISORDERS
 primary_id: MESH:D016112
 alt_id: MIM:146700
 xref: GARD:6752;   ICD10CM:Q80.0;   NCI:C84778
For additional species annotation, visit the Alliance of Genome Resources.


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ichthyosis vulgaris term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: FLG-related disorders ClinVar PMID:17688236 PMID:19654294 PMID:20104584 PMID:20858050 PMID:21120943 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Flg filaggrin susceptibility ISO DNA:nonsense mutation, deletion:cds, exon:p.R501X, g.2282delCAGT (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant ichthyosis vulgaris | ClinVar Annotator: match by term: Dominant ichthyosis vulgaris | ClinVar Annotator: match by term: FLG-related condition | ClinVar Annotator: match by term: FLG-related disorders | ClinVar Annotator: match by term: Ichthyosis vulgaris		 CTD
ClinVar
OMIM
RGD		 PMID:3163778 PMID:16444271 PMID:16550169 PMID:16815158 PMID:17030239 More... RGD:1598947 NCBI chr 2:178,884,793...178,912,986 JBrowse link
G Lbr lamin B receptor ISS OMIM:146700 MouseDO NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      skin disease 4320
        Genetic Skin Diseases 1889
          ichthyosis vulgaris 3
            Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
Path 2
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          sensory system disease 7376
            skin disease 4320
              keratosis 189
                ichthyosis 95
                  ichthyosis vulgaris 3
                    Osteosclerosis with Ichthyosis and Premature Ovarian Failure 0
paths to the root