Synonyms: CDG syndrome type IIn SLC39A8 deficiency CDG2N congenital disorder of glycosylation type IIn congenital disorder of glycosylation, type IIn CDG-IIn carbohydrate deficient glycoprotein syndrome type IIn congenital disorder of glycosylation type 2n
Term information
- UMLS:C4225234 (MONDO:equivalentTo)
- GARD:17846 (MONDO:GARD)
- OMIM:616721 (Orphanet:468699)
- MEDGEN:899837 (MONDO:equivalentTo)
- Orphanet:468699 (MONDO:equivalentTo)
- DOID:0070266 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
https://omim.org/entry/616721
http://purl.obolibrary.org/obo/DOID_0070266
http://linkedlifedata.com/resource/umls/id/C4225234
http://www.orpha.net/ORDO/Orphanet_468699
http://identifiers.org/medgen/899837
Term relations
- hereditary neurological disease
- central nervous system malformation
- congenital nervous system disorder
- disorder of protein N-glycosylation
- developmental anomaly of metabolic origin
- congenital disorder of glycosylation type II
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation
- has material basis in germline mutation in some SLC39A8