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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:Ataxia Telangiectasia Like Disorder
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Accession:DOID:9004583 term browser browse the term
Synonyms:exact_synonym: ATLD
 primary_id: MESH:C565779
 xref: OMIM:PS604391


show annotations for term's descendants           Sort by:
Ataxia Telangiectasia Like Disorder term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder ClinVar PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
G PCNA proliferating cell nuclear antigen ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440 		JBrowse link
ataxia-telangiectasia-like disorder-1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRE11 MRE11 homolog, double strand break repair nuclease ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 1 | ClinVar Annotator: match by term: MRE11-related condition OMIM
ClinVar		 PMID:2433832 PMID:8445618 PMID:8684395 PMID:9536098 PMID:9845372 More... NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966 		JBrowse link
ataxia-telangiectasia-like disorder-2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCNA proliferating cell nuclear antigen ISO ClinVar Annotator: match by term: Ataxia-telangiectasia-like disorder 2 OMIM
ClinVar		 PMID:24911150 PMID:25741868 NCBI chr20:5,134,930...5,146,603
Ensembl chr20:4,927,731...4,939,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Neurocutaneous Syndromes 357
        ataxia telangiectasia 100
          Ataxia Telangiectasia Like Disorder 2
            ataxia-telangiectasia-like disorder-1 1
            ataxia-telangiectasia-like disorder-2 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            movement disease 2498
              Dyskinesias 2132
                Ataxia 933
                  Spinocerebellar Ataxias 543
                    cerebellar ataxia 466
                      autosomal recessive cerebellar ataxia 159
                        ataxia telangiectasia 100
                          Ataxia Telangiectasia Like Disorder 2
                            ataxia-telangiectasia-like disorder-1 1
                            ataxia-telangiectasia-like disorder-2 1
paths to the root