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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 Follicularis, Atrichia, and Photophobia Syndrome 2
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Accession:DOID:9004587 term browser browse the term
Synonyms:exact_synonym: IFAP syndrome 2;   IFAP2;   follicular ichthyosis with atrichia and photophobia syndrome 2;   follicular ichthyosis, atrichia, and photophobia syndrome 2
 primary_id: OMIM:619016


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Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: IFAP syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:31790666 PMID:32497488 PMID:32902915 PMID:33253727 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      IFAP Syndrome 4
        Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              hair disease 328
                hypotrichosis 148
                  alopecia 94
                    IFAP Syndrome 4
                      Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 1
paths to the root