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


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ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl1 ELOVL fatty acid elongase 1 ISO ClinVar Annotator: match by term: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES ClinVar
OMIM
PMID:29496980 PMID:30487246 NCBI chr 5:137,255,868...137,260,486
Ensembl chr 5:137,255,908...137,260,483
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    sensory system disease 5336
      skin disease 2747
        ichthyosis 62
          ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        sensory system disease 5336
          skin disease 2747
            Skin Abnormalities 633
              ichthyosis 62
                ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES 1
paths to the root