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Mondo Disease Ontology
| 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 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009058 |
|
| database_cross_reference |
icd11.foundation:1415819835 OMIM:219500 DOID:0090142 SCTID:13003007 NCIT:C129070 GARD:2428 HP:0003153 UMLS:C0220993 MEDGEN:66353 Orphanet:212
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|
| 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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|
| id |
MONDO:0009058
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#mostly_harmless |
|
| label |
cystathioninuria
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|
| notation |
MONDO:0009058
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|
| prefLabel |
cystathioninuria
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| skos_exactMatch |
http://identifiers.org/medgen/66353 http://identifiers.org/snomedct/13003007 http://purl.obolibrary.org/obo/Orphanet_212 http://linkedlifedata.com/resource/umls/id/C0220993 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1415819835 |
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