Term Name: | Meckel syndrome 3 |
---|---|
Synonyms: | Meckel-Gruber syndrome, type 3, MKS3 |
Definition: | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. |
Ontology: | Human Disease [DOID:0070117] ( DOID:0070117 ) |