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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 SCARF2 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
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by OMIM:600920
ClinVar Annotator: match by term: Marden Walker like syndrome
ClinVar Annotator: match by term: Van den Ende-Gupta syndrome
OMIM
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 17289
    syndrome 8166
      Van den Ende-Gupta syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                Contracture 94
                  Van den Ende-Gupta syndrome 1
paths to the root