Skip to main content

RareConnect.ioRare Intelligence

Explore Data Discover Patient Groups News Partner

Sign In Sign Up

Explore Data Patient Groups News Partner

RareConnect.ioRare Intelligence

Combining the speed of AI with the wisdom of the community to build the world's most accurate disease registry.

Explore

Disease Directory
Patient Groups
News
FAQ
MONDO Ontology ↗

Get Involved

Partner with Us
Register Your PAG
Community
Pricing

Legal

Privacy Policy
Terms of Service
Accessibility
Contact Us

© 2025 RareConnect.io. Powered by MONDO Ontology

methylmalonic acidemia with homocystinuria, type cblJ | RareConnect | RareConnect.io

/methylmalonic aciduria and homocystinuria

/methylmalonic acidemia with homocystinuria, type cblJ

methylmalonic acidemia with homocystinuria, type cblJ

Rare Disease

MONDO:0013925

Also Known As

cblJ defectscobalamin J defectcombined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJmethylmalonic aciduria with homocystinuria, type cblJMAHCJmethylmalonic acidemia with homocystinuria type cblJmethylmalonic aciduria and homocystinuria, cblJ type

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614857 ↗

Orphanet

Orphanet:369955 ↗

GARD

Related Diseases

methylmalonic aciduria and homocystinuria type cblF

MONDO:0010183

methylmalonic aciduria and homocystinuria type cblC

MONDO:0010184

methylmalonic aciduria and homocystinuria type cblD

MONDO:0010185

methylmalonic acidemia with homocystinuria, type cblX

MONDO:0010657

methylmalonic aciduria and homocystinuria, cb1L type

MONDO:0975798

← Back to All Diseases