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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 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
 xref: GARD:5456;   OMIM:PS601390;   ORDO:314679


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Van Maldergem syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24056717 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Van Maldergem syndrome		 CTD
ClinVar		 PMID:24033266 PMID:24056717 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Van Maldergem syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dchs1 dachsous cadherin-related 1 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 OMIM
ClinVar		 PMID:22473091 PMID:24056717 PMID:25741868 PMID:28492532 NCBI chr 1:160,104,931...160,138,958
Ensembl chr 1:160,104,931...160,124,808 		JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Van Maldergem syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 2:121,928,188...122,056,711
Ensembl chr 2:121,927,942...122,056,707 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Van Maldergem syndrome 2
        Van Maldergem syndrome 1 2
        Van Maldergem syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      nervous system disease 13993
        central nervous system disease 12287
          brain disease 11534
            disease of mental health 8198
              developmental disorder of mental health 5448
                specific developmental disorder 4431
                  intellectual disability 4238
                    Van Maldergem syndrome 2
                      Van Maldergem syndrome 1 2
                      Van Maldergem syndrome 2 1
paths to the root