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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


show annotations for term's descendants           Sort by:
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 chr10:58,300,069...58,315,725
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 chr10:58,316,065...58,340,489
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 chr10:58,294,357...58,298,875
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 chr10:58,349,936...58,375,021
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      Abderhalden-Kaufmann-Lignac Syndrome 4
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal recessive disease 6982
                cystinosis 7
                  Abderhalden-Kaufmann-Lignac Syndrome 4
paths to the root