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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;   MIM: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 chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome ClinVar PMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		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 PMID:28518168 More... NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352 		JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:25741868 NCBI chr 4:149,566,563...149,712,135
Ensembl chr 4:161,380,933...161,524,376 		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: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2 OMIM
ClinVar		 PMID:2624276 PMID:22469822 PMID:22473091 PMID:24033266 PMID:24056717 More... NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    syndrome 10605
      Van Maldergem syndrome 3
        Van Maldergem syndrome 1 3
        Van Maldergem syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15805
    disease of anatomical entity 15483
      nervous system disease 13565
        central nervous system disease 12126
          brain disease 11400
            disease of mental health 8231
              developmental disorder of mental health 5652
                specific developmental disorder 4612
                  intellectual disability 4420
                    Van Maldergem syndrome 3
                      Van Maldergem syndrome 1 3
                      Van Maldergem syndrome 2 1
paths to the root