Hydroxymethylbilane synthase

Preferred Label : Hydroxymethylbilane synthase;

Symbol : HMBS;

CISMeF acronym : HMBS;

Type : Gene;

Alternative titles and symbols : Porphobilinogen deaminase; Pre-uroporphyrinogen synthase; Uroporphyrinogen I synthetase; Uroporphyrinogen I synthase; PBGD;

Ensembl ID : ENSG00000256269;

Prefixed ID : *609806;

Details

Origin ID

609806;

UMLS CUI

C1415597;

Automatic exact mappings (from CISMeF team)
- Hydroxymethylbilane synthase (substance) [SNOMED CT concept]
- Porphobilinogen deaminase [LOINC component]
- Uroporphyrinogen synthase (substance) [SNOMED CT concept]
- hydroxymethylbilane synthase [ORDO Gene]
- hydroxymethylbilane synthase [MeSH concept]
- hydroxymethylbilane synthase [MeSH Descriptor]
- hydroxymethylbilane synthase [HGNC gene]
- porphobilinogen deaminase [SNOMED Notion]
HGNC gene
- hydroxymethylbilane synthase [HGNC gene]
ORDO concept(s)
- hydroxymethylbilane synthase [ORDO Gene]
Phenotypes related
- Encephalopathy, porphyria-related [OMIM Phenotype]
- Leukoencephalopathy, porphyria-related [OMIM Phenotype]
- Porphyria, acute intermittent [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- HMBS gene [LOINC component]
- hydroxymethylbilane synthase [HGNC gene]

Keyword's position in hierarchy(ies) :

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