DISEASES

Disease-gene associations mined from literature

Human genes for Meckel syndrome 5

Meckel syndrome 5 [DOID:0070119]

A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of RPGRIP1L on chromosome 16q12.2.

Synonyms:  Meckel syndrome 5,  DOID:0070119,  Meckel-Gruber syndrome, type 5,  MKS5,  MeckelGruber syndrome type 5 ...