/metaphyseal dysplasia without hypotrichosis

metaphyseal dysplasia without hypotrichosis

Rare Disease

MONDO:0009601

Also Known As

metaphyseal dysplasia without hypotrichosisCHHVMDWHcartilage-hair hypoplasia variant, skeletal manifestations onlycartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

RMRP ↗

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

External Resources

metaphyseal dysplasia without hypotrichosis

Also Known As

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD