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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:Ichthyosis Prematurity Syndrome
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Accession:DOID:9001309 term browser browse the term
Synonyms:exact_synonym: IPS;   Ichthyosis congenita IV;   Ichthyosis, SLC27A4-related
 primary_id: MESH:C536271;   RDO:0001786
 alt_id: OMIA:001973;   OMIM:608649

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Ichthyosis Prematurity Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc27a4 solute carrier family 27 member 4 ISO ClinVar Annotator: match by term: Ichthyosis prematurity syndrome OMIM
ClinVar		 PMID:16199547 PMID:19631310 PMID:21450060 PMID:22927265 PMID:25741868 More... NCBI chrNW_004624760:6,529,028...6,542,067
Ensembl chrNW_004624760:6,529,027...6,542,149 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    syndrome 9252
      Ichthyosis Prematurity Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15960
    Pathological Conditions, Signs and Symptoms 10986
      Signs and Symptoms 9097
        Neurologic Manifestations 8801
          sensory system disease 6144
            skin disease 3487
              Skin Abnormalities 1196
                ichthyosis 84
                  Ichthyosis Prematurity Syndrome 1
paths to the root