| Metadata | |
|---|---|
| ID | DOID:0050778 |
| Name | Meckel syndrome |
| Definition | A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. http://en.wikipedia.org/wiki/Meckel_syndrome, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:204954005 |
| Subsets |
DO_rare_slim |
| Synonyms |
Meckel-Gruber syndrome [EXACT] |
| Parent Relationships |
is_a ciliopathy |