Methylmalonic Aciduria and Homocystinuria, cblJ Type

Preferred Label : Methylmalonic Aciduria and Homocystinuria, cblJ Type;

NCIt synonyms : MAHCJ;

NCIt definition : An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4.;

Details

Origin ID

C183526;

UMLS CUI

C3553915;

Currated CISMeF NLP mapping
- Methylmalonic acidemia with homocystinuria, type cblJ [ORDO Disease]
- Methylmalonic aciduria and homocystinuria, cblj type [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Methylmalonic aciduria and homocystinuria, cblj type [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
- ABCD4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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