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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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X-linked ichthyosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnpla4 patatin like phospholipase domain containing 4 JBrowse link X 45,519,406 45,522,988 RGD:8554872
G Pudp pseudouridine 5'-phosphatase JBrowse link 18 45,378,357 45,380,797 RGD:8554872
G Sts steroid sulfatase JBrowse link X 45,420,418 45,428,748 RGD:7240710
RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 4231
      skin disease 2240
        ichthyosis 54
          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 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            X-linked monogenic disease 490
              X-linked recessive disease 162
                X-linked ichthyosis 3
                  Complicated X-Linked Ichthyosis 0
                  Ichthyosis and Male Hypogonadism 0
                  X-Linked Ichthyosis, without Steroid Sulfatase Deficiency 0
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