Term Name: acromesomelic dysplasia, Grebe type
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 )

Relationships
is a type of: acromesomelic dysplasia autosomal recessive disease