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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:cystathioninuria
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Accession:DOID:0090142 term browser browse the term
Definition:An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. (DO)
Synonyms:exact_synonym: cystathionase deficiency;   cystathione gamma-lyase deficiency syndrome;   gamma-cystathionase deficiency
 primary_id: MESH:C535408;   MESH:C562680
 alt_id: OMIM:219500
 xref: GARD:2428;   ICD10CM:E72.19;   NCI:C129070;   ORDO:212
For additional species annotation, visit the Alliance of Genome Resources.


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cystathioninuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cth cystathionine gamma-lyase ISO ClinVar Annotator: match by OMIM:219500
ClinVar Annotator: match by term: Cystathioninuria
OMIM
ClinVar
PMID:12574942, PMID:15151507, PMID:18476726, PMID:19019829, PMID:19428278, PMID:20584029, PMID:23555315, PMID:25741868, PMID:28492532 NCBI chr 2:264,266,959...264,293,040
Ensembl chr 2:264,266,984...264,293,046
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Malabsorption Syndromes 118
        hyperhomocysteinemia 47
          cystathioninuria 1
Path 2
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          nutrition disease 915
            Malnutrition 196
              nutritional deficiency disease 188
                Avitaminosis 108
                  Vitamin B Deficiency 68
                    hyperhomocysteinemia 47
                      cystathioninuria 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.