A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. [ Orphanet:564 https://orcid.org/0000-0001-5208-3432 ]
Synonyms: Meckel-Gruber syndrome
Term information
- Orphanet:564 (MONDO:equivalentTo)
- MEDGEN:120513 (MONDO:equivalentTo)
- icd11.foundation:695796893 (https://orcid.org/0000-0002-4142-7153)
- ICD9:753.1 (DOID:0050778)
- DOID:0050778 (MONDO:equivalentTo)
- GARD:3436 (MONDO:GARD)
- OMIMPS:249000 (https://orcid.org/0000-0002-6601-2165)
- ICD9:759.89 (MONDO:relatedTo)
- NCIT:C98978 (MONDO:equivalentTo)
- ICD9:753.10 (DOID:0050778)
- SCTID:29076005 (MONDO:equivalentTo)
- UMLS:C0265215 (MONDO:equivalentTo)
ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, orphanet_rare
http://www.orpha.net/ORDO/Orphanet_564
http://identifiers.org/snomedct/29076005
http://purl.obolibrary.org/obo/DOID_0050778
https://omim.org/phenotypicSeries/PS249000
http://linkedlifedata.com/resource/umls/id/C0265215
http://identifiers.org/medgen/120513
http://purl.obolibrary.org/obo/NCIT_C98978
http://purl.obolibrary.org/obo/MONDO_0005328
http://purl.obolibrary.org/obo/MONDO_0015335
http://purl.obolibrary.org/obo/MONDO_0015214
http://purl.obolibrary.org/obo/MONDO_0020229
http://purl.obolibrary.org/obo/MONDO_0020237
http://purl.obolibrary.org/obo/MONDO_0019741
http://purl.obolibrary.org/obo/MONDO_0019721
http://purl.obolibrary.org/obo/MONDO_0018731
http://purl.obolibrary.org/obo/MONDO_0015220