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ONTOLOGY REPORT - ANNOTATIONS


Term:ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
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Accession:DOID:9006712 term browser browse the term
Definition:A disease characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity.
Synonyms:exact_synonym: IKSHD;   Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies
 primary_id: OMIM:618527
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ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elovl1 ELOVL fatty acid elongase 1 JBrowse link 5 137,255,868 137,260,486 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    sensory system disease 4666
      skin disease 2495
        ichthyosis 57
          ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        sensory system disease 4666
          skin disease 2495
            Skin Abnormalities 507
              ichthyosis 57
                ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.