loading...| Preferred Name | cystathioninuria | |
| Synonyms |
Cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency cystathioninuria (disease) cystathione gamma-lyase deficiency syndrome cystathionase deficiency cystathioninuria |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009058 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009058 |
|
| database_cross_reference |
OMIM:219500 DOID:0090142 icd11.foundation:1415819835 MEDGEN:66353 NCIT:C129070 UMLS:C0220993 Orphanet:212 SCTID:13003007 GARD:2428 HP:0003153 |
|
| 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. |
|
| has_exact_synonym |
Cystathione gamma-lyase deficiency syndrome gamma-cystathionase deficiency cystathioninuria (disease) cystathione gamma-lyase deficiency syndrome cystathionase deficiency cystathioninuria |
|
| IAO_0000589 |
cystathioninuria (disease) |
|
| id |
MONDO:0009058 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#mostly_harmless http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
cystathioninuria |
|
| notation |
MONDO:0009058 |
|
| preferred label |
cystathioninuria |
|
| prefLabel |
cystathioninuria |
|
| 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 |
|
| subClassOf |