SLC39A8-CDG
human disease
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SLC39A8-CDG
Summary
SLC39A8-CDG is a developmental defect during embryogenesis[1].
Key Facts
- SLC39A8-CDG's instance of is recorded as developmental defect during embryogenesis[2].
- SLC39A8-CDG's instance of is recorded as rare disease[3].
- SLC39A8-CDG's instance of is recorded as class of disease[4].
- SLC39A8-CDG's subclass of is recorded as multiple congenital anomalies/dysmorphic syndrome-intellectual disability[5].
- SLC39A8-CDG's subclass of is recorded as developmental anomaly of metabolic origin[6].
- SLC39A8-CDG's subclass of is recorded as syndromic neurometabolic disease with non-X-linked intellectual disability[7].
- SLC39A8-CDG's subclass of is recorded as syndrome with a cerebellar malformation as major feature[8].
- SLC39A8-CDG's subclass of is recorded as disorder of protein N-glycosylation[9].
- SLC39A8-CDG's subclass of is recorded as congenital disorder of glycosylation type II[10].
- SLC39A8-CDG's subclass of is recorded as autosomal recessive disease[11].
- SLC39A8-CDG's OMIM ID is recorded as 616721[12].
- SLC39A8-CDG's Disease Ontology ID is recorded as DOID:0070266[13].
- SLC39A8-CDG's Orphanet ID is recorded as 468699[14].
- SLC39A8-CDG's genetic association is recorded as SLC39A8[15].
- SLC39A8-CDG's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_468699[16].
- SLC39A8-CDG's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070266[17].
- SLC39A8-CDG's UMLS CUI is recorded as C4225234[18].
- SLC39A8-CDG's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
- SLC39A8-CDG's Mondo ID is recorded as MONDO_0014746[20].
- SLC39A8-CDG's UniProt disease ID is recorded as DI-04605[21].