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X-linked ichthyosis - Ontology Report - Rat Genome Database

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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:X-linked ichthyosis
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Accession:DOID:1700 term browser browse the term
Definition:An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: STS deficiency;   STS-RELATED CONDITION;   Steroid Sulfatase Deficiencies;   Steroid Sulfatase Deficiency;   X-linked ichthyoses;   X-linked recessive ichthyosis;   XLI;   sex-linked ichthyoses;   sex-linked ichthyosis
 narrow_synonym: Placental Steroid Sulfatase Deficiency;   SSDD ICHTHYOSIS, X-LINKED, COMPLICATED;   X-linked ichthyosis with steryl-sulphatase deficiency;   X-linked placental steryl-sulphatase deficiency;   steroid sulfatase deficiency disease
 primary_id: MESH:D016114
 alt_id: MIM:308100
 xref: EFO:0009080;   GARD:7904;   ICD10CM:Q80.1;   NCI:C84779
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
X-linked ichthyosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla4 patatin like phospholipase domain containing 4 ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 PMID:25741868 NCBI chr  X:42,313,554...42,318,451
Ensembl chr  X:42,305,373...42,318,552 		JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Recessive X-linked ichthyosis ClinVar PMID:3007328 PMID:7208152 PMID:18413370 PMID:25741868 PMID:31690835 NCBI chr18:43,878,374...43,880,756
Ensembl chr18:43,878,080...43,880,791 		JBrowse link
G Sts steroid sulfatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ichthyosis, X-Linked | ClinVar Annotator: match by term: Placental steroid sulfatase deficiency | ClinVar Annotator: match by term: Recessive X-linked ichthyosis | ClinVar Annotator: match by term: STS-related condition 		OMIM
CTD
ClinVar		 PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 More... NCBI chr  X:42,225,131...42,233,403
Ensembl chr  X:42,225,372...42,233,402 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      skin disease 4308
        Genetic Skin Diseases 1869
          X-linked ichthyosis 3
            Complicated X-Linked Ichthyosis 0
            Ichthyosis and Male Hypogonadism 0
            X-Linked Ichthyosis without Steroid Sulfatase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            skin disease 4308
              keratosis 190
                ichthyosis 95
                  X-linked ichthyosis 3
                    Complicated X-Linked Ichthyosis 0
                    Ichthyosis and Male Hypogonadism 0
                    X-Linked Ichthyosis without Steroid Sulfatase Deficiency 0
paths to the root