| Metadata | |
|---|---|
| ID | DOID:0070119 |
| Name | Meckel syndrome 5 |
| Definition | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. https://www.ncbi.nlm.nih.gov/pubmed/17558409 |
| Xrefs | |
| Synonyms |
Meckel-Gruber syndrome, type 5 [EXACT] MKS5 [EXACT] |
| Parent Relationships |
is_a Meckel syndrome |