OBO ID: DOID:0050762
Term Name: adenylosuccinase lyase deficiency Search Ontology:
Synonyms:
Definition: An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency
References:
Ontology: Human Disease   ( DOID:0050762 )
Relationships
is a type of:
OTHER adenylosuccinase lyase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ADSL Adenylosuccinase deficiency 103050
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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