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DOID:0080052 - acromesomelic dysplasia, Grebe type
Disease Ontology Definition:An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones.
Synonyms: GREBE CHONDRODYSPLASIA,
Echinobase Genes :
MIM:200700 - chondrodysplasia, grebe type |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
acromesomelic dysplasia (is_a)