loading...| Preferred Name | cystathioninuria | |
| Synonyms |
gamma-cystathionase deficiency cystathione gamma-lyase deficiency syndrome cystathionase deficiency |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0090142 |
|
| alternative label |
gamma-cystathionase deficiency cystathione gamma-lyase deficiency syndrome cystathionase deficiency |
|
| database_cross_reference |
ICD10CM:E72.19 MESH:C535408 OMIM:219500 UMLS_CUI:C0268616 SNOMEDCT_US_2023_03_01:13003007 SNOMEDCT_US_2023_03_01:6885006 UMLS_CUI:C0220993 NCI:C129070 GARD:2428 ORDO:212 |
|
| 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. |
|
| has exact synonym |
gamma-cystathionase deficiency cystathione gamma-lyase deficiency syndrome cystathionase deficiency |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0090142 |
|
| in_subset | ||
| label |
cystathioninuria |
|
| notation |
DOID:0090142 |
|
| note |
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. |
|
| preferred label |
cystathioninuria |
|
| prefLabel |
cystathioninuria |
|
| subClassOf |