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RGD uses the Human Disease Ontology (DO, 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.

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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
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 16091
    syndrome 7036
      Malabsorption Syndromes 119
        hyperhomocysteinemia 48
          cystathioninuria 1
Path 2
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        acquired metabolic disease 2753
          nutrition disease 888
            Malnutrition 196
              nutritional deficiency disease 187
                Avitaminosis 112
                  Vitamin B Deficiency 69
                    hyperhomocysteinemia 48
                      cystathioninuria 1
paths to the root