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Last uploaded:
July 4, 2024
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| Preferred Name | cystathioninuria | |
| Synonyms |
gamma-cystathionase deficiency cystathione gamma-lyase deficiency syndrome cystathionase deficiency |
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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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| alternative label |
gamma-cystathionase deficiency cystathione gamma-lyase deficiency syndrome cystathionase deficiency
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| database_cross_reference |
ICD10CM:E72.19 MESH:C535408 UMLS_CUI:C0268616 SNOMEDCT_US_2023_03_01:13003007 SNOMEDCT_US_2023_03_01:6885006 UMLS_CUI:C0220993 NCI:C129070 GARD:2428 MIM:219500 ORDO:212
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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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| has exact synonym |
gamma-cystathionase deficiency cystathione gamma-lyase deficiency syndrome cystathionase deficiency
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0090142
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| in_subset | ||
| label |
cystathioninuria
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|
| notation |
DOID:0090142
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| prefLabel |
cystathioninuria
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| subClassOf |
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