Term Name: | acromesomelic dysplasia, Grebe type |
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Synonyms: | acromesomelic dysplasia-2A, grebe chondrodysplasia |
Definition: | An acromesomelic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDMP1 gene on chromosome 20q11. |
Ontology: | Human Disease [DOID:0080052] ( DOID:0080052 ) |