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homocystinuria

Go to external page http://purl.obolibrary.org/obo/MONDO_0004737

An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems. [ NCIT:P378 ]

Synonyms: homocystinuria (disease) homocystinuria

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0019880 (NCIT:C84765)
  • SCTID:11282001 (MONDO:equivalentTo)
  • DOID:9263 (MONDO:equivalentTo)
  • ICD10CM:E72.11 (MONDO:equivalentTo)
  • NCIT:C84765 (MONDO:equivalentTo)
  • MESH:D006712 (https://orcid.org/0000-0003-1967-3726)
  • HP:0002156 (MONDO:otherHierarchy)
Subsets

rare, inferred_rare

IAO 0000589

homocystinuria (disease)

exactMatch

http://purl.obolibrary.org/obo/DOID_9263

http://identifiers.org/mesh/D006712

http://purl.bioontology.org/ontology/ICD10CM/E72.11

http://linkedlifedata.com/resource/umls/id/C0019880

http://purl.obolibrary.org/obo/NCIT_C84765

http://identifiers.org/snomedct/11282001

has narrow synonym

cystathionine synthase deficiency

cystathionine beta synthase deficiency

CBS deficiency

id

MONDO:0004737