DISEASES

Disease-gene associations mined from literature

Human genes for acromesomelic dysplasia, Maroteaux type

Acromesomelic dysplasia, Maroteaux type [DOID:0080050]

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.

Synonyms:  acromesomelic dysplasia, Maroteaux type,  acromesomelic dysplasia Maroteaux type,  DOID:0080050,  Maroteaux type acromesomelic dysplasia,  Maroteaux type acromesomelic dysplasias

Linkouts:  OMIM