/Cole-Carpenter syndrome 2

Cole-Carpenter syndrome 2

Rare Disease

MONDO:0014573

Also Known As

Cole-Carpenter syndrome 2Cole-Carpenter syndrome caused by mutation in SEC24DCole-Carpenter syndrome type 2SEC24D Cole-Carpenter syndromeCLCRP2COLE-CARPENTER syndrome 2

Definition

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

SEC24D ↗

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

External Resources

OMIM

OMIM:616294 ↗

GARD

GARD:16077 ↗

Related Diseases

osteoporosis

MONDO:0005298

Rare

Cole-Carpenter syndrome 1

MONDO:0007204

Rare

calvarial doughnut lesions-bone fragility syndrome

MONDO:0007470

Rare

osteogenesis imperfecta type 1

MONDO:0008146

Rare

osteogenesis imperfecta type 2

MONDO:0008147

Rare

osteogenesis imperfecta type 4

MONDO:0008148

Rare

← Back to All Diseases