ARGININOSUCCINIC ACIDURIA

ARGININOSUCCINIC ACID LYASE DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/207900

ARGININOSUCCINIC ACID LYASE DEFICIENCY

ARGININOSUCCINASE DEFICIENCY

ASL DEFICIENCY

ARGININOSUCCINATE LYASE DEFICIENCY

C0268547

7cen-q11.2

ASL

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU007051

http://purl.bioontology.org/ontology/OMIM/MTHU007059

http://purl.bioontology.org/ontology/OMIM/MTHU037221

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU027675

http://purl.bioontology.org/ontology/OMIM/MTHU037253

http://purl.bioontology.org/ontology/OMIM/MTHU014418

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU037251

http://purl.bioontology.org/ontology/OMIM/MTHU014416

http://purl.bioontology.org/ontology/OMIM/MTHU007049

http://purl.bioontology.org/ontology/OMIM/MTHU014420

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU007048

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU027676

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU037248

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU014417

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU023453

http://purl.bioontology.org/ontology/OMIM/MTHU014421

Phenotype description, molecular basis known.

207900

3

pound

ARGININOSUCCINIC ACIDURIA

Caused by mutation in the argininosuccinate lyase gene (ASL, 608310.0001) [MOLECULAR BASIS]

Onset in neonatal period or infancy [MISCELLANEOUS]

Prevalence is estimated to be 1 in 150,000 [MISCELLANEOUS]

T047