Terminology Service for NFDI4Health
SLC39A8-CDG
Go to external page
http://purl.obolibrary.org/obo/MONDO_0014746
Term info
Label
SLC39A8-CDG
Synonyms
- CDG syndrome type IIn
- CDG-IIn
- CDG2N
- SLC39A8 deficiency
- carbohydrate deficient glycoprotein syndrome type IIn
- congenital disorder of glycosylation type 2n
- congenital disorder of glycosylation type IIn
- congenital disorder of glycosylation, type IIn
Subsets
ordo_disease
exactMatch
https://omim.org/entry/616721, http://linkedlifedata.com/resource/umls/id/CN234734, http://purl.obolibrary.org/obo/DOID_0070266, http://linkedlifedata.com/resource/umls/id/C4225234, http://purl.obolibrary.org/obo/Orphanet_468699
has related synonym
CDG IIn
id
MONDO:0014746
Term relations
Subclass of:
- syndromic intellectual disability
- central nervous system malformation
- genetic multiple congenital anomalies/dysmorphic syndrome
- congenital nervous system disorder
- genetic nervous system disorder
- disorder of protein N-glycosylation
- congenital disorder of glycosylation type II
- developmental anomaly of metabolic origin
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has major feature some central nervous system malformation