| Metadata | |
|---|---|
| ID | DOID:0050778 |
| PURL | http://purl.obolibrary.org/obo/DOID_0050778 Copy |
| 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_2025_09_01:29076005 |
| SKOS |
exactMatch GARD:3436 exactMatch MIM:PS249000 exactMatch NCI:C98978 exactMatch ORDO:564 exactMatch UMLS_CUI:C0265215 broadMatch ICD10CM:Q61.9 broadMatch ICD9CM:753.1 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Meckel-Gruber syndrome [EXACT] |
| Parent Relationships |
is_a ciliopathy |