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Abderhalden-Kaufmann-Lignac Syndrome - Ontology Report - Rat Genome Database

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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:Abderhalden-Kaufmann-Lignac Syndrome
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Accession:DOID:9004409 term browser browse the term
Synonyms:exact_synonym: Abderhalden-Lignac-Kaufmann disease
 primary_id: MESH:C535335

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Abderhalden-Kaufmann-Lignac Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9536098 PMID:9537412 PMID:9792862 PMID:10444339 PMID:10482956 More... NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120 		JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980 		JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Abderhalden Lignac Kaufmann disease | ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:25741868 NCBI chr10:57,795,845...57,800,363
Ensembl chr10:57,795,382...57,800,363 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Abderhalden-Kaufmann-Lignac syndrome ClinVar PMID:9537412 PMID:9792862 PMID:10625078 PMID:10673275 PMID:12110740 More... NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    syndrome 11406
      Abderhalden-Kaufmann-Lignac Syndrome 4
Path 2
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10965
            autosomal genetic disease 10454
              autosomal recessive disease 7132
                cystinosis 7
                  Abderhalden-Kaufmann-Lignac Syndrome 4
paths to the root