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loading...| Preferred Name |
CYSTATHIONINURIA |
| Synonyms |
CYSTATHIONASE DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/219500 |
| altLabel |
CYSTATHIONASE DEFICIENCY |
| cui |
C3495552 C0220993 |
| Gene Locus |
1p31.1 |
| Gene Symbol |
CTH |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU013609 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
219500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CYSTATHIONINURIA |
| Scope Statement |
Caused by mutations in the cystathionase gene (CTH, 607657.0001) [MOLECULAR BASIS] Majority of patients are pyridoxine-responsive [MISCELLANEOUS] |
| tui |
T047 |
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