cystathioninuria
amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31
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cystathioninuria
Summary
cystathioninuria is a class of disease[1]. cystathioninuria draws 2 Wikipedia views per month (class_of_disease category, ranking #631 of 1,968).[2]
Key Facts
- cystathioninuria's instance of is recorded as class of disease[3].
- cystathioninuria's subclass of is recorded as sulfuraminoacidemia[4].
- cystathioninuria's subclass of is recorded as amino acid metabolic disorder[5].
- cystathioninuria's subclass of is recorded as genetic disease[6].
- cystathioninuria's MeSH descriptor ID is recorded as C535408[7].
- cystathioninuria's OMIM ID is recorded as 219500[8].
- cystathioninuria's ICD-9 ID is recorded as 270.4[9].
- cystathioninuria's DiseasesDB is recorded as 29671[10].
- cystathioninuria's KEGG ID is recorded as H00182[11].
- cystathioninuria's Disease Ontology ID is recorded as DOID:0090142[12].
- cystathioninuria's Encyclopædia Britannica Online ID is recorded as science/cystathioninuria[13].
- cystathioninuria's Orphanet ID is recorded as 212[14].
- cystathioninuria's NCI Thesaurus ID is recorded as C129070[15].
- cystathioninuria's health specialty is recorded as medical genetics[16].
- cystathioninuria's genetic association is recorded as CTH[17].
- cystathioninuria's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090142[18].
- cystathioninuria's exact match is recorded as http://identifiers.org/doid/DOID:0090142[19].
- cystathioninuria's exact match is recorded as http://purl.obolibrary.org/obo/HP_0003153[20].
- cystathioninuria's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_212[21].
- cystathioninuria's UMLS CUI is recorded as C3495552[22].
- cystathioninuria's UMLS CUI is recorded as C0268616[23].
- cystathioninuria's UMLS CUI is recorded as C0220993[24].
- cystathioninuria's Human Phenotype Ontology ID is recorded as HP:0003153[25].
- cystathioninuria's ICD-10-CM is recorded as E72.19[26].
- cystathioninuria's ICD-10-CM is recorded as E72.1[27].
Why It Matters
cystathioninuria draws 2 Wikipedia views per month (class_of_disease category, ranking #631 of 1,968).[2]