# 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

**Wikidata**: [Q5201186](https://www.wikidata.org/wiki/Q5201186)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cystathioninuria)  
**Source**: https://4ort.xyz/entity/cystathioninuria


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/2f5047f7-80ba-4b8f-8009-59d7130e63be--2019-06-14T16:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_2f5047f7-80ba-4b8f-8009-59d7130e63be-2019-06-14T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000116761/MONDO_0009058)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
8. Human Phenotype Ontology release 2018-03-08