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methylmalonic aciduria and homocystinuria type cblF

Go to external page http://purl.obolibrary.org/obo/MONDO_0010183

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner. [ Orphanet:79284 ]

Synonyms: methylmalonic aciduria with homocystinuria, type cblF cobalamin F deficiency cblF defect cobalamin F defect combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF methylmalonic aciduria and homocystinuria type cblF lysosomal membrane cobalamin transporter deficiency inherited methylmalonic acidemia and homocystinuria

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:80887004 (MONDO:equivalentTo)
  • GARD:3584 (Orphanet:79284)
  • DOID:0050717 (MONDO:equivalentTo)
  • Orphanet:79284 (OMIM:277380)
  • OMIM:277380 (Orphanet:79284/e)
  • MESH:C564747 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

comment

Editor note: TODO - relevant annotation from GO

exactMatch

http://identifiers.org/mesh/C564747

http://www.orpha.net/ORDO/Orphanet_79284

http://identifiers.org/snomedct/80887004

http://purl.obolibrary.org/obo/DOID_0050717

https://omim.org/entry/277380

has related synonym

methylmalonic acidemia and homocystinuria, cblF type

vitamin B12 storage disease

methylmalonic aciduria and homocystinuria, cblF type

cobalamin F disease

cblF methylmalonic acidemia and homocystinuria

methylmalonic aciduria due to vitamin B12-release defect

cobalamin locus f variant

vitamin B12 lysosomal release defect

MAHCF

cobalamin, defect in lysosomal release of

methylmalonic acidemia with homocystinuria type cblF

id

MONDO:0010183

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010183

Term relations