|  Help  |  About  |  Contact Us

DO Term : adenylosuccinase lyase deficiency [DOID:0050762] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:550,
  • OMIM:103050,
  • 103050
Quick Links:
 
Quick Links:
 

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