ONTOLOGY REPORT - ANNOTATIONS


Term:Cryptophthalmos, Unilateral or Bilateral, Isolated
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Accession:DOID:9000975 term browser browse the term
Definition:Cryptophthalmos is a condition of eyelid malformation with an underlying malformed eye. Complete, incomplete, and symblepharon varieties exist. The skin in complete cryptophthalmos extends uninterrupted from the forehead to the cheek. In the incomplete form, there is medial eyelid fusion, but coincident intact lateral structures. The symblepharon variety presents with fusion of the upper eyelid skin to the superior aspect of the globe. The complete variety is the most common form. (OMIM)
Synonyms:exact_synonym: Ankyloblepharon, Simple;   CRYPTOP;   Cryptophthalmos with Microphthalmia and Peters Anomaly
 primary_id: MESH:C565138;   RDO:0013865
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Cryptophthalmos, Unilateral or Bilateral, Isolated term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:11554181
RGD:11554185

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Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      eye and adnexa disease 1985
        eye adnexa disease 124
          eyelid disease 70
            Cryptophthalmos, Unilateral or Bilateral, Isolated 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              eyelid disease 70
                Cryptophthalmos, Unilateral or Bilateral, Isolated 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.