acheiropody

Term ID

DOID:0050603

Synonyms

• Acheiropodia
• Horn-Kolb Syndrome

Definition

An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. https://en.wikipedia.org/wiki/Acheiropodia

References

• GARD:376
• OMIM:200500

Ontology

Human Disease   ( DOID:0050603 )