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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: 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 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:30194805 NCBI chr 5:22,577,680...22,799,333
Ensembl chr 5:22,577,675...22,799,349
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        Musculoskeletal Abnormalities 1755
          Craniofacial Abnormalities 1455
            Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            lens disease 220
              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.