Asparagine Synthetase Deficiency

Preferred Label : Asparagine Synthetase Deficiency;

NCIt synonyms : ASNSD;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy.;

Details

Origin ID

C168586;

UMLS CUI

C3809971;

Currated CISMeF NLP mapping
- Asparagine synthetase deficiency [OMIM Phenotype]
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) [SNOMED CT concept]
- Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Asparagine synthetase deficiency [OMIM Phenotype]
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ASNS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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