acromesomelic dysplasia, Maroteaux type

Term ID

DOID:0080050

Synonyms

• acromesomelic dysplasia-1

Definition

An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. (2)

References

• GARD:507
• MESH:C535661
• MIM:602875
• ORDO:40

Ontology

Human Disease   ( DOID:0080050 )