Generalized Arterial Calcification of Infancy 1

Preferred Label : Generalized Arterial Calcification of Infancy 1;

NCIt synonyms : GACI1;

NCIt definition : An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.;

Details

Origin ID

C128805;

UMLS CUI

C4551985;

Currated CISMeF NLP mapping
- Arterial calcification of infancy [MeSH concept]
- Arterial calcification, generalized, of infancy, 1 [OMIM Phenotype]
- Generalized arterial calcification of infancy [ORDO Disease]
- arterial calcification of infancy [DO Concept]
- arterial calcification of infancy [MeSH Supplementary Concept]
- generalized arterial calcification of infancy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arterial calcification, generalized, of infancy, 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ENPP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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