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ONTOLOGY REPORT - ANNOTATIONS


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
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Van den Ende-Gupta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Scarf2 scavenger receptor class F, member 2 JBrowse link 11 87,722,350 87,733,734 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15984
    syndrome 6094
      Van den Ende-Gupta syndrome 1
Path 2
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  disease 15984
    disease of anatomical entity 15262
      nervous system disease 10752
        peripheral nervous system disease 2360
          neuropathy 2175
            neuromuscular disease 1707
              muscular disease 1121
                Contracture 89
                  Van den Ende-Gupta syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.