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loading...| Preferred Name | cystathioninuria | |
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| Definitions |
An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0090142 |
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| definition |
An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. |
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| label |
cystathioninuria |
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| prefixIRI |
DOID:0090142 |
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| prefLabel |
cystathioninuria |
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| subClassOf |
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