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


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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 OMIM:608649
ClinVar Annotator: match by term: Ichthyosis prematurity syndrome
OMIM
ClinVar
PMID:19631310 NCBI chr 3:8,363,937...8,376,858
Ensembl chr 3:8,363,937...8,376,858
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Ichthyosis Prematurity Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              ichthyosis 114
                Ichthyosis Prematurity Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.