Term Name: | Meckel syndrome 5 |
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Synonyms: | Meckel-Gruber syndrome, type 5, MKS5 |
Definition: | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. |
Ontology: | Human Disease [DOID:0070119] ( DOID:0070119 ) |