Term Name: Meckel syndrome 1
Synonyms: Meckel-Gruber syndrome, type 1, MKS1
Definition: A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22.
Ontology: Human Disease [DOID:0070115]   ( DOID:0070115 )

Relationships
is a type of: Meckel syndrome