Terminology Service for NFDI4Health

Homocystinuria

Go to external page http://purl.obolibrary.org/obo/NCIT_C84765


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. [ ]

Term info

Label

Homocystinuria

Synonyms
  • Homocystinuria
Subsets

NCIT_C90259, NCIT_C99147

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C97090

NICHD Hierarchy Term

Homocystinuria

Preferred Name

Homocystinuria

Semantic Type

Disease or Syndrome

UMLS CUI

C0019880

code

C84765