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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:hypomelanosis of Ito
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Accession:DOID:3156 term browser browse the term
Definition:A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). (DO)
Synonyms:exact_synonym: Bloch-Siemans syndrome;   HMI;   IP1;   IPA;   ITO;   ITO hypomelanosis;   Ito's nevus;   incontinentia pigmenti achromians;   incontinentia pigmenti achromians syndrome;   incontinentia pigmenti syndrome;   incontinentia pigmenti, type I;   nevus fuscocaeruleus acromiodeltoideus;   nevus of Ito
 primary_id: OMIM:300337
 xref: EFO:1000395;   EFO:1000716;   MONDO:0010631;   NCI:C7582;   ORDO:263432
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hypomelanosis of Ito term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Incontinentia pigmenti syndrome ClinVar PMID:11590134 PMID:18222329 PMID:18350553 PMID:19656162 PMID:24339369 More... NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      skin disease 4047
        Skin Abnormalities 1298
          Bloch-Sulzberger syndrome 2
            hypomelanosis of Ito 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Skin Abnormalities 1298
                Bloch-Sulzberger syndrome 2
                  hypomelanosis of Ito 1
paths to the root