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

microphthalmia, syndromic 2 | RareConnect | RareConnect.io

/syndromic microphthalmia

/microphthalmia, syndromic 2

microphthalmia, syndromic 2

Rare Disease

MONDO:0010261

Also Known As

OFCD syndromecataract-microphthalmia-radiculomegaly-cardiac septal defect syndromemicrophthalmia syndromic 2microphthalmia, syndromic 2microphthalmia, syndromic 2, X-linked dominantmicrophthalmia, syndromic type 2oculofaciocardiodental syndromeANOP2 (formerly)MAA2 (formerly)MCOPS2microphthalmia cataracts radiculomegaly and septal heart defectsmicrophthalmia, cataracts, radiculomegaly, and septal heart defectssyndromic microphthalmia type 2

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:300166 ↗

Orphanet

Orphanet:2712 ↗

GARD

Related Diseases

anophthalmia/microphthalmia-esophageal atresia syndrome

MONDO:0008799

COFS syndrome

MONDO:0008926

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

MONDO:0010485

microphthalmia, syndromic 1

MONDO:0010671

linear skin defects with multiple congenital anomalies

MONDO:0010672

Matthew-Wood syndrome

MONDO:0011010

← Back to All Diseases