Phosphoribosylaminoimidazole carboxylase deficiency

Preferred Label : Phosphoribosylaminoimidazole carboxylase deficiency;

Symbol : PAICSD;

Type : Phenotype, molecular basis known;

Prefixed ID : #619859;

Details

Origin ID

619859;

UMLS CUI

C1291561;

Currated CISMeF NLP mapping
- Deficiency of phosphoribosylaminoimidazole carboxylase (disorder) [SNOMED CT concept]
- PAICS deficiency [ORDO Disease]
Genes related to phenotype
- Phosphoribosylaminoimidazole carboxylase [OMIM gene]
ORDO concept(s)
- PAICS deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of phosphoribosylaminoimidazole carboxylase (disorder) [SNOMED CT concept]

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