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Metadata
ID DOID:9263
Name homocystinuria
Definition An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.
http://en.wikipedia.org/wiki/Homocystinuria
Xrefs

GARD:10770

ICD10CM:E72.11

MESH:D006712

NCI:C84765

OMIM:236200

OMIM:236250

ORDO:394

SNOMEDCT_US_2019_09_01:11282001

UMLS_CUI:C0019880

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

CBS deficiency [EXACT]

cystathionine beta synthase deficiency [EXACT]

cystathionine synthase deficiency [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

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