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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 chrNW_004624817:8,111,714...8,147,699
Ensembl chrNW_004624817:8,111,718...8,134,342
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 chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
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 chrNW_004624817:8,111,714...8,147,699
Ensembl chrNW_004624817:8,111,718...8,134,342
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624735:12,997,358...13,018,765
Ensembl chrNW_004624735:12,997,408...13,018,533
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 chrNW_004624777:6,095,166...6,293,142
Ensembl chrNW_004624777:6,095,643...6,292,980
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    syndrome 9722
      Van Maldergem syndrome 3
        Van Maldergem syndrome 1 3
        Van Maldergem syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        central nervous system disease 10995
          brain disease 10311
            disease of mental health 7393
              developmental disorder of mental health 5034
                specific developmental disorder 4166
                  intellectual disability 3976
                    Van Maldergem syndrome 3
                      Van Maldergem syndrome 1 3
                      Van Maldergem syndrome 2 1
paths to the root