Human genes for Meckel syndrome 1
Meckel syndrome 1 [DOID:0070115]
A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of MKS1 on chromosome 17q22.
Synonyms: Meckel syndrome 1, DOID:0070115, Meckel-Gruber syndrome, type 1, MeckelGruber syndrome type 1, type 1 Meckel-Gruber syndrome ...