WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:9252
Child Term . Identifier  DOID:0111362 Direct  true
Redundant  false

1 Child Term

Identifier Name Description
DOID:0111362 hawkinsinuria An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.

1 Parent Term

Identifier Name Description
DOID:9252 amino acid metabolic disorder An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.