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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
 alt_id: RDO:0002141
 xref: GARD:5456;   OMIM:PS601390;   ORDO:314679
For additional species annotation, visit the Alliance of Genome Resources.


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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
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 OMIM:615546
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 17207
    syndrome 8126
      Van Maldergem syndrome 2
        Van Maldergem syndrome 1 1
        Van Maldergem syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        central nervous system disease 10378
          brain disease 9741
            disease of mental health 7043
              developmental disorder of mental health 4378
                specific developmental disorder 3635
                  intellectual disability 3446
                    Van Maldergem syndrome 2
                      Van Maldergem syndrome 1 1
                      Van Maldergem syndrome 2 1
paths to the root