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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: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: FDLAB;   SHAWAF-TRABOULSI SYNDROME;   Traboulsi syndrome;   facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
 primary_id: MESH:C563293
 alt_id: OMIM:601552
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asph aspartate-beta-hydroxylase ISO ClinVar Annotator: match by OMIM:601552
ClinVar Annotator: match by term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs
OMIM
ClinVar
PMID:11241487 PMID:23687502 PMID:24768550 PMID:25741868 PMID:30194805 More... NCBI chr 5:22,603,879...22,814,107
Ensembl chr 5:22,603,486...22,813,876
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        Musculoskeletal Abnormalities 2255
          Craniofacial Abnormalities 1968
            Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        sensory system disease 5700
          eye disease 2776
            lens disease 226
              lens subluxation 5
                Ectopia Lentis 4
                  Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
paths to the root