loading...| Preferred Name | cystathioninuria | |
| Synonyms |
Cystathione gamma-lyase deficiency syndrome cystathioninuria cystathione gamma-lyase deficiency syndrome cystathioninuria (disease) cystathionase deficiency gamma-cystathionase deficiency |
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| Definitions |
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009058 |
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| altLabel |
Cystathione gamma-lyase deficiency syndrome cystathioninuria cystathione gamma-lyase deficiency syndrome cystathioninuria (disease) cystathionase deficiency gamma-cystathionase deficiency |
|
| definition |
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. |
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| has_exact_synonym |
Cystathione gamma-lyase deficiency syndrome cystathioninuria cystathione gamma-lyase deficiency syndrome cystathioninuria (disease) cystathionase deficiency gamma-cystathionase deficiency |
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| IAO_0000589 |
cystathioninuria (disease) |
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| label |
cystathioninuria |
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| prefixIRI |
MONDO:0009058 |
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| prefLabel |
cystathioninuria |
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| textual definition |
Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. |
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| subClassOf |