Term Name: | Meckel syndrome 7 |
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Synonyms: | Meckel-Gruber syndrome, type 7, MKS7 |
Definition: | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. |
Ontology: | Human Disease [DOID:0070121] ( DOID:0070121 ) |