SULFOCYSTEINURIA

ISOD

http://purl.bioontology.org/ontology/OMIM/272300

SULFOCYSTEINURIA

ISOD

C0268624

Chr.12

SUOX

http://purl.bioontology.org/ontology/OMIM/MTHU009201

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

http://purl.bioontology.org/ontology/OMIM/MTHU009196

http://purl.bioontology.org/ontology/OMIM/MTHU037958

http://purl.bioontology.org/ontology/OMIM/MTHU001903

http://purl.bioontology.org/ontology/OMIM/MTHU009200

http://purl.bioontology.org/ontology/OMIM/MTHU002543

http://purl.bioontology.org/ontology/OMIM/MTHU009198

http://purl.bioontology.org/ontology/OMIM/MTHU004673

http://purl.bioontology.org/ontology/OMIM/MTHU009203

http://purl.bioontology.org/ontology/OMIM/MTHU009199

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

http://purl.bioontology.org/ontology/OMIM/MTHU009197

http://purl.bioontology.org/ontology/OMIM/MTHU009195

http://purl.bioontology.org/ontology/OMIM/MTHU007699

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

Phenotype description, molecular basis known.

272300

3

pound

SULFITE OXIDASE DEFICIENCY, ISOLATED

Caused by mutation in the sulfite oxidase gene (SUOX, 606887.0001) [MOLECULAR BASIS]

Death in infancy [MISCELLANEOUS]

T047