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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;   Cerebro-facio-articular syndrome of Van Maldergem;   Cerebrofacioarticular syndrome;   VMLDS1;   Van Maldergem Syndrome 1;   Van Maldergem Wetzburger Verloes Syndrome
 primary_id: MESH:C536530;   RDO:0002141
 alt_id: OMIM:601390
 xref: ORDO:314679
For additional species annotation, visit the Alliance of Genome Resources.


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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:7240710
RGD:8554872
RGD:11554173
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:11554173
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 14759
    syndrome 4210
      Van Maldergem syndrome 2
        Van Maldergem Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Van Maldergem syndrome 2
                      Van Maldergem Syndrome 2 1
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