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DO Term : homocystinuria [DOID:9263] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.

synonyms:
OMIM:236200,
UMLS_CUI:C0019880,
OMIM:236250,
cystathionine synthase deficiency,
GARD:10770,
236250,
cystathionine beta synthase deficiency,
ORDO:394,
MESH:D006712,
ICD10CM:E72.11,
SNOMEDCT_US_2023_03_01:190709008,
236200,
CBS deficiency,
NCI:C84765

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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