ARGININEMIA

HYPERARGININEMIA

http://purl.bioontology.org/ontology/OMIM/207800

HYPERARGININEMIA

ARGINASE DEFICIENCY

ARG1 DEFICIENCY

C0268548

6q23

ARG1

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

http://purl.bioontology.org/ontology/OMIM/MTHU071452

http://purl.bioontology.org/ontology/OMIM/MTHU014422

http://purl.bioontology.org/ontology/OMIM/MTHU014426

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

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU071451

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/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU008639

http://purl.bioontology.org/ontology/OMIM/MTHU014429

http://purl.bioontology.org/ontology/OMIM/MTHU006757

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

http://purl.bioontology.org/ontology/OMIM/MTHU014427

Phenotype description, molecular basis known.

207800

3

pound

ARGININEMIA

Prevalence is estimated to be 1 in 1,100,000 [MISCELLANEOUS]

Caused by mutation in the arginase gene (ARG1, 608313.0001) [MOLECULAR BASIS]

T047