glycosylphosphatidylinositol biosynthesis defect 15
http://purl.obolibrary.org/obo/MONDO_0060627
Term info
database cross reference
- Orphanet:529665 (MONDO:equivalentTo)
- OMIM:617810 (Orphanet:529665)
- UMLS:C4540520 (OMIM:617810)
Subsets
ordo_malformation_syndrome
exactMatch
https://omim.org/entry/617810, http://purl.obolibrary.org/obo/Orphanet_529665, http://linkedlifedata.com/resource/umls/id/C4540520
has exact synonym
glycosylphosphatidylinositol biosynthesis defect 15
has related synonym
developmental delay, epilepsy, cerebellar atrophy, and osteopenia, GPIBD15
id
MONDO:0060627
Term relations
Subclass of:
- congenital disorder of glycosylation
- central nervous system malformation
- autosomal recessive disease
- congenital nervous system disorder
- developmental anomaly of metabolic origin
- inherited lipid metabolism disorder
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disorder of GPI anchor biosynthesis
- disease has major feature some central nervous system malformation