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DOID:0080050 - acromesomelic dysplasia, Maroteaux type
Disease Ontology 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.
Synonyms: acromesomelic dysplasia-1
Xenbase Genes
:
npr2
| MONDO:0011275 - acromesomelic dysplasia 1, Maroteaux type |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
acromesomelic dysplasia (is_a),
autosomal recessive disease (is_a),
spinal disease (is_a)