Meckel syndrome
http://purl.obolibrary.org/obo/MONDO_0018921
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. [ https://orcid.org/0000-0001-5208-3432 Orphanet:564 ]
Term info
- UMLS:C0265215 (Orphanet:564/e)
- Orphanet:564 (MONDO:equivalentTo)
- ICD9:759.89 (MONDO:relatedTo)
- ICD9:753.10 (DOID:0050778)
- ICD9:753.1 (DOID:0050778)
- OMIMPS:249000 (MONDO:equivalentTo)
- DOID:0050778 (MONDO:equivalentTo)
- SCTID:29076005 (MONDO:equivalentTo)
- GARD:0003436 (MONDO:equivalentTo)
- NCIT:C98978 (MONDO:equivalentTo)
ordo_malformation_syndrome
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.
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://purl.obolibrary.org/obo/Orphanet_564, 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_0018731, http://purl.obolibrary.org/obo/MONDO_0019721, http://purl.obolibrary.org/obo/MONDO_0015220
Meckel-Gruber syndrome
MONDO:0018921