SLC39A8-CDG
http://purl.obolibrary.org/obo/MONDO_0014746
Term info
database cross reference
- UMLS:CN234734 (MONDO:equivalentTo)
- UMLS:C4225234 (MONDO:ncbi_mim2gene_medline)
- Orphanet:468699 (MONDO:equivalentTo)
- OMIM:616721 (Orphanet:468699)
- DOID:0070266 (MONDO:equivalentTo)
Subsets
ordo_disease
IAO 0000233
https://github.com/monarch-initiative/mondo/issues/5588
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
excluded subClassOf
http://purl.obolibrary.org/obo/MONDO_0000508
has exact synonym
CDG syndrome type IIn, SLC39A8 deficiency, CDG2N, congenital disorder of glycosylation type IIn, congenital disorder of glycosylation, type IIn, carbohydrate deficient glycoprotein syndrome type IIn, CDG-IIn, congenital disorder of glycosylation type 2n
has related synonym
CDG IIn
id
MONDO:0014746
Term relations
Subclass of:
- 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