Term Name: anauxetic dysplasia 1
Synonyms: spondylometaepiphyseal dysplasia, Menger type
Definition: An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.
Ontology: Human Disease [DOID:0050640]   ( DOID:0050640 )

Relationships
is a type of: anauxetic dysplasia autosomal recessive disease