| Metadata | |
|---|---|
| ID | DOID:0070115 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070115 Copy |
| Name | Meckel syndrome 1 |
| Definition | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. https://www.ncbi.nlm.nih.gov/pubmed/16415886 |
| Xrefs | |
| Synonyms |
Meckel-Gruber syndrome, type 1 [EXACT] MKS1 [EXACT] |
| Parent Relationships |
is_a Meckel syndrome |