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cystathioninuria

Go to external page http://purl.obolibrary.org/obo/MONDO_0009058

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. [ Orphanet:212 ]

Synonyms: cystathioninuria (disease) gamma-cystathionase deficiency cystathionase deficiency Cystathione gamma-lyase deficiency syndrome cystathioninuria cystathione gamma-lyase deficiency syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:219500 (Orphanet:212/e)
  • SCTID:13003007 (MONDO:equivalentTo)
  • GARD:2428 (Orphanet:212)
  • HP:0003153 (MONDO:otherHierarchy)
  • UMLS:C0220993 (Orphanet:212/e)
  • DOID:0090142 (MONDO:equivalentTo)
  • NCIT:C129070 (MONDO:equivalentTo)
  • Orphanet:212 (OMIM:219500)
Subsets

gard_rare, ordo_disease, mostly_harmless, rare, orphanet_rare, clingen

IAO 0000589

cystathioninuria (disease)

exactMatch

http://www.orpha.net/ORDO/Orphanet_212

http://purl.obolibrary.org/obo/DOID_0090142

http://linkedlifedata.com/resource/umls/id/C0220993

http://purl.obolibrary.org/obo/NCIT_C129070

http://identifiers.org/snomedct/13003007

https://omim.org/entry/219500

id

MONDO:0009058

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009058