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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
acromesomelic dysplasia, Maroteaux type
Summary
- Synonym
-
- 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.
- Super Class
- acromesomelic dysplasia autosomal recessive disease spinal disease
External Links
- Disease Ontology
- DOID:0080050
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
