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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 1
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Accession:DOID:0080585 term browser browse the term
Definition:A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: VMLDS1
 broad_synonym: DCHS1-RELATED CONDITION;   DCHS1-RELATED DISORDER
 primary_id: MIM:601390
 xref: NCI:C188993



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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 SCRIB scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Van Maldergem syndrome 1 ClinVar PMID:25741868 NCBI chr 8:140,544,797...140,571,078
Ensembl chr 8:143,557,722...143,582,353
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    syndrome 10699
      Van Maldergem syndrome 3
        Van Maldergem syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 15834
    disease of anatomical entity 15490
      nervous system disease 13586
        central nervous system disease 12151
          brain disease 11416
            disease of mental health 8256
              developmental disorder of mental health 5651
                specific developmental disorder 4617
                  intellectual disability 4419
                    Van Maldergem syndrome 3
                      Van Maldergem syndrome 1 3
paths to the root