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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: MIM:601552


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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 term: Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | ClinVar Annotator: match by term: TRABOULSI SYNDROME
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11241487 PMID:23687502 PMID:24768550 PMID:25741868 PMID:28492532 More... NCBI chr 5:22,601,581...22,814,107
Ensembl chr 5:22,603,486...22,813,876 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      musculoskeletal system disease 8492
        Musculoskeletal Abnormalities 3441
          Craniofacial Abnormalities 2766
            Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        Neurologic Manifestations 10421
          sensory system disease 7330
            eye disease 3696
              lens disease 521
                lens subluxation 8
                  Ectopia Lentis 7
                    Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
paths to the root