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 ) |