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

dehydrated hereditary stomatocytosis 2 | RareConnect | RareConnect.io

/familial hemolytic anemia

/dehydrated hereditary stomatocytosis

/dehydrated hereditary stomatocytosis 2

dehydrated hereditary stomatocytosis 2

Rare Disease

MONDO:0014737

Also Known As

DHS2Dehydrated hereditary stomatocytosis 2Dehydrated hereditary stomatocytosis type 2KCNN4 dehydrated hereditary stomatocytosisdehydrated hereditary stomatocytosis 2; DHS2dehydrated hereditary stomatocytosis caused by mutation in KCNN4Desiccytosis Gardosxerocytosis Gardos

Definition

Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene.

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:616689 ↗

GARD

Related Diseases

congenital nonspherocytic hemolytic anemia

MONDO:0006506

elliptocytosis 2

MONDO:0007533

southeast Asian ovalocytosis

MONDO:0008165

overhydrated hereditary stomatocytosis

MONDO:0008493

cryohydrocytosis

MONDO:0008494

dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

MONDO:0008689

← Back to All Diseases