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ONTOLOGY REPORT - ANNOTATIONS


Term:Ichthyosis Follicularis Atrichia Photophobia Syndrome
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Accession:DOID:9006410 term browser browse the term
Synonyms:exact_synonym: ICHTHYOSIS FOLLICULARIS, ATRICHIA, AND PHOTOPHOBIA WITH OR WITHOUT BRAIN ANOMALIES, RETARDATION, ECTODERMAL DYSPLASIA, SKELETAL MALFORMATIONS, HIRSCHSPRUNG DISEASE, EAR/EYE ANOMALIES, CLEFT PALATE/CRYPTORCHIDISM, AND KIDNEY DYSPLASIA/HYPOPLASIA;   Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome;   Ifap syndrome with or without Bresheck syndrome
 primary_id: MESH:C536085;   RDO:0001513
 alt_id: OMIM:308205
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Ichthyosis Follicularis Atrichia Photophobia Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:8554872
G Mbtps2 membrane-bound transcription factor peptidase, site 2 JBrowse link X 40,258,933 40,309,047 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    syndrome 5771
      Ichthyosis Follicularis Atrichia Photophobia Syndrome 2
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        sensory system disease 4666
          skin disease 2495
            hair disease 227
              hypotrichosis 111
                alopecia 77
                  Ichthyosis Follicularis Atrichia Photophobia Syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.