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


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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:31790666 PMID:32497488 PMID:32902915 NCBI chr10:46,570,996...46,593,021
Ensembl chr10:46,570,996...46,593,009
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Pathological Conditions, Signs and Symptoms 8761
      Anatomical Pathological Conditions 1535
        alopecia 93
          Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          skin disease 2765
            hair disease 266
              hypotrichosis 127
                alopecia 93
                  Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 1
paths to the root