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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 2
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Accession:DOID:0080586 term browser browse the term
Definition:A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. (DO)
Synonyms:exact_synonym: VMLDS2
 broad_synonym: FAT4-RELATED CONDITION
 primary_id: MIM:615546
 xref: NCI:C188994



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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    syndrome 10699
      Van Maldergem syndrome 3
        Van Maldergem syndrome 2 1
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 8254
              developmental disorder of mental health 5651
                specific developmental disorder 4618
                  intellectual disability 4419
                    Van Maldergem syndrome 3
                      Van Maldergem syndrome 2 1
paths to the root