Metadata | |
---|---|
ID | DOID:0070117 |
Name | Meckel syndrome 3 |
Definition | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/16415887 |
Xrefs | |
Synonyms |
Meckel-Gruber syndrome, type 3 [EXACT] MKS3 [EXACT] |
Parent Relationships |
is_a Meckel syndrome |