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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:Chronic form of ichthyosis that is inherited as a sex-linked recessive trait carried on the X-chromosome and transmitted to the male offspring. It is characterized by severe scaling, especially on the extremities, and is associated with steroid sulfatase deficiency.
Synonyms:exact_synonym: Ichthyoses, X-Linked;   Ichthyosis, Sex Linked;   Placental Steroid Sulfatase Deficiency;   STS deficiency;   Steroid Sulfatase Deficiencies;   Steroid Sulfatase Deficiency;   X-linked ichthyosis with steryl-sulphatase deficiency;   X-linked placental steryl-sulphatase deficiency;   X-linked recessive ichthyosis;   XLI;   sex-linked ichthyoses
 narrow_synonym: SSDD ICHTHYOSIS, X-LINKED, COMPLICATED;   STEROID SULFATASE DEFICIENCY DISEASE
 primary_id: MESH:D016114
 alt_id: OMIM:308100;   RDO:0003197
 xref: GARD:7904;   ICD10CM:Q80.1;   NCI:C84779
For additional species annotation, visit the Alliance of Genome Resources.


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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 PMID:3007328 PMID:7208152 PMID:18413370 NCBI chr  X:45,519,406...45,522,988
Ensembl chr  X:45,519,228...45,522,665
JBrowse link
G Pudp pseudouridine 5'-phosphatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked ClinVar PMID:3007328 PMID:7208152 PMID:18413370 NCBI chr18:45,378,357...45,380,797
Ensembl chr18:45,379,707...45,380,730
JBrowse link
G Sts steroid sulfatase ISO ClinVar Annotator: match by term: Ichthyosis, X-Linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:308100
OMIM
ClinVar
CTD
PMID:1539590 PMID:2668275 PMID:3007328 PMID:3032454 PMID:7208152 PMID:9252398 PMID:9623797 PMID:10679952 PMID:14641695 PMID:18413370 PMID:25741868 NCBI chr  X:45,420,418...45,428,748
Ensembl chr  X:45,420,596...45,428,750
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      skin disease 2746
        ichthyosis 62
          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 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            X-linked monogenic disease 1010
              X-linked recessive disease 368
                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