Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:99646OMIM:614875Q78.8
Who is this for?
Show terms as
8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

D-2-hydroxyglutaric aciduriaHP:0012321Metaphyseal wideningHP:0003016Metaphyseal irregularityHP:0003025Multiple enchondromatosisHP:0005701Metaphyseal enchondromatosisHP:0005868Abnormal bone ossificationHP:0011849Abnormal joint morphologyHP:0001367Metaphyseal cuppingHP:0003021Irregular vertebral endplatesHP:0003301Short phalanx of fingerHP:0009803Metaphyseal chondromatosis of tibiaHP:0030294Metaphyseal chondromatosis of femurHP:0030295Metaphyseal chondromatosis of radiusHP:0030296Metaphyseal chondromatosis of ulnaHP:0030297
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

View clinical trials →

No actively recruiting trials found for Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria community →

No specialists are currently listed for Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduriaForum →

No community posts yet. Be the first to share your experience with Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

Start the conversation →

Latest news about Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

No recent news articles for Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.