uroporphyrinogen III synthase

Preferred Label : uroporphyrinogen III synthase;

Approved symbol HGNC : UROS;

Name synonyms HGNC : congenital erythropoietic porphyria;

Chromosome HGNC : 10q26.2;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000188690;

Details

Origin ID

HGNC:12592;

UMLS CUI

C1421375;

Automatic exact mappings (from CISMeF team)
- Congenital erythropoietic porphyria [ICD-11 More detail]
- Congenital erythropoietic porphyria [ORDO Disease]
- Congenital erythropoietic porphyria (disorder) [SNOMED CT concept]
- Hereditary erythropoietic porphyria [ICD-10 Sub-category]
- Porphyria, congenital erythropoietic [OMIM Phenotype]
- Uroporphyrinogen III synthase [OMIM gene]
- Uroporphyrinogen-III synthase (substance) [SNOMED CT concept]
- congenital erythropoietic porphyria [SNOMED Notion]
- porphyria, erythropoietic [MeSH Descriptor]
- uroporphyrinogen III synthase [ORDO Gene]
- uroporphyrinogen iii synthetase [MeSH Descriptor]
OMIM gene
- Uroporphyrinogen III synthase [OMIM gene]
Orphanet gene
- uroporphyrinogen III synthase [ORDO Gene]
See also inter- (CISMeF)
- Uroporphyrinogen III synthase [LOINC component]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Uroporphyrinogen III synthase [OMIM gene]

Keyword's position in hierarchy(ies) :

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