Term Name: | Meckel syndrome 2 |
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Synonyms: | Meckel-Gruber syndrome, type 2, MKS2 |
Definition: | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. |
Ontology: | Human Disease [DOID:0070116] ( DOID:0070116 ) |