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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:Van den Ende-Gupta syndrome
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Accession:DOID:0111699 term browser browse the term
Definition:A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. (DO)
Synonyms:exact_synonym: Marden Walker Like Syndrome;   Marden Walker like syndrome without psychomotor retardation;   Marden-Walker-like syndrome without psychmotor retardation;   VDEGS;   blepharophimosis, arachnodactyly, and congenital contractures
 primary_id: MESH:C535909
 alt_id: OMIA:002016;   OMIM:600920
 xref: GARD:3382;   ORDO:2460



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Van den Ende-Gupta syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scarf2 scavenger receptor class F, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
OMIM
CTD
ClinVar
PMID:20887961 PMID:21108395 PMID:23808541 PMID:24478002 PMID:25741868 More... NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Van den Ende-Gupta syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              eyelid disease 103
                blepharophimosis 17
                  Van den Ende-Gupta syndrome 1
paths to the root