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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:XFE progeroid syndrome
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Accession:DOID:0060590 term browser browse the term
Definition:A syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_ material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: XFEPS;   XPF-ERCC1 Progeroid Syndrome
 primary_id: MESH:C567043
 alt_id: OMIM:610965
 xref: GARD:10628;   NCI:C173111
For additional species annotation, visit the Alliance of Genome Resources.


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XFE progeroid syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc1 ERCC excision repair 1, endonuclease non-catalytic subunit ISS OMIM:610965 MouseDO NCBI chr 1:80,256,973...80,268,198
Ensembl chr 1:80,256,973...80,268,198
JBrowse link
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO ClinVar Annotator: match by OMIM:610965
ClinVar Annotator: match by term: XFE progeroid syndrome
OMIM
ClinVar
PMID:8797827 PMID:9579555 PMID:17183314 PMID:20221251 PMID:21612988 PMID:23623389 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26074087 PMID:27356891 PMID:27528516 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29403087 PMID:29892709 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Cockayne syndrome 12
        XFE progeroid syndrome 2
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                Cockayne syndrome 12
                  XFE progeroid syndrome 2
paths to the root