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ONTOLOGY REPORT - ANNOTATIONS


Term:Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
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Accession:DOID:9000195 term browser browse the term
Definition:Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera. FDLAB is caused by homozygous mutation in the ASPH gene on chromosome 8q12. (OMIM)
Synonyms:exact_synonym: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS;   FDLAB;   SHAWAF-TRABOULSI SYNDROME;   TRABOULSI SYNDROME
 primary_id: MESH:C563293;   OMIM:601552
 alt_id: RDO:0012597
For additional species annotation, visit the Alliance of Genome Resources.


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Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Asph aspartate-beta-hydroxylase JBrowse link 5 22,577,680 22,799,333 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      musculoskeletal system disease 3975
        Musculoskeletal Abnormalities 1178
          Craniofacial Abnormalities 938
            Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          eye and adnexa disease 1980
            eye disease 1980
              lens disease 191
                lens subluxation 5
                  Ectopia Lentis 4
                    Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.