Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0011275 - nail of manual digit 3

MIM:
MIM:602875 - ACROMESOMELIC DYSPLASIA 1; AMD1

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)