Metadata | |
---|---|
ID | DOID:0070116 |
Name | Meckel syndrome 2 |
Definition | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. https://www.ncbi.nlm.nih.gov/pubmed/20512146 |
Xrefs | |
Synonyms |
Meckel-Gruber syndrome, type 2 [EXACT] MKS2 [EXACT] |
Parent Relationships |
is_a Meckel syndrome |