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ONTOLOGY REPORT - ANNOTATIONS


Term:Van Maldergem syndrome
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Accession:DOID:0060238 term browser browse the term
Definition:A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO)
Synonyms:exact_synonym: Cerebro-facio-articular syndrome of Van Maldergem;   Cerebrofacioarticular syndrome;   Van Maldergem Wetzburger Verloes syndrome;   cerebro-facio-articular syndrome
 primary_id: MESH:C536530
 alt_id: RDO:0002141
 xref: GARD:5456;   OMIM:PS601390;   ORDO:314679
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Van Maldergem syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:8554872
RGD:11554173
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
Van Maldergem syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dchs1 dachsous cadherin-related 1 JBrowse link 1 170,594,981 170,629,062 RGD:7240710
RGD:8554872
Van Maldergem syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Van Maldergem syndrome 2
        Van Maldergem syndrome 1 1
        Van Maldergem syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        central nervous system disease 8075
          brain disease 7543
            disease of mental health 5494
              developmental disorder of mental health 2688
                specific developmental disorder 1856
                  intellectual disability 1685
                    Van Maldergem syndrome 2
                      Van Maldergem syndrome 1 1
                      Van Maldergem syndrome 2 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.