| Metadata | |
|---|---|
| ID | DOID:0070121 |
| Name | Meckel syndrome 7 |
| Definition | A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. https://www.ncbi.nlm.nih.gov/pubmed/18371931 |
| Xrefs |
SNOMEDCT_US_2023_03_01:773737004 |
| Subsets |
DO_rare_slim |
| Synonyms |
Meckel-Gruber syndrome, type 7 [EXACT] MKS7 [EXACT] |
| Parent Relationships |
is_a Meckel syndrome |