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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 IAGP ClinVar Annotator: match by term: Van Maldergem syndrome 2
ClinVar Annotator: match by term: FAT4-related condition
ClinVar Annotator: match by term: FAT4-related condition | ClinVar Annotator: match by term: Van Maldergem syndrome 2		 ClinVar
OMIM		 PMID:2624276 PMID:9536098 PMID:17576681 PMID:22469822 PMID:22473091 More... NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    syndrome 38717
      Van Maldergem syndrome 3
        Van Maldergem syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      nervous system disease 70715
        central nervous system disease 50806
          brain disease 48114
            disease of mental health 38980
              developmental disorder of mental health 14518
                specific developmental disorder 9366
                  intellectual disability 7302
                    Van Maldergem syndrome 3
                      Van Maldergem syndrome 2 1
paths to the root