Online Mendelian Inheritance in Man - GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618010 http://purl.bioontology.org/ontology/OMIM/618010
Preferred Name	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
Synonyms	GPIBD17
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GPIBD17
prefLabel	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
Gene Symbol	PIGH
Scope Statement	Caused by mutation in the phosphatidylinositol glycan anchor biosynthesis class H protein (PIGH, 600154.0001) [MOLECULAR BASIS] Variable severity [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU062093 http://purl.bioontology.org/ontology/OMIM/MTHU036402 http://purl.bioontology.org/ontology/OMIM/MTHU015443 http://purl.bioontology.org/ontology/OMIM/MTHU003335 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000848 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU064350 http://purl.bioontology.org/ontology/OMIM/MTHU070536 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU062092 http://purl.bioontology.org/ontology/OMIM/MTHU031116 http://purl.bioontology.org/ontology/OMIM/MTHU012868 http://purl.bioontology.org/ontology/OMIM/MTHU003051 http://purl.bioontology.org/ontology/OMIM/MTHU076848 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU037031 http://purl.bioontology.org/ontology/OMIM/MTHU039084 http://purl.bioontology.org/ontology/OMIM/MTHU062090 http://purl.bioontology.org/ontology/OMIM/MTHU002962 http://purl.bioontology.org/ontology/OMIM/MTHU040725 See more See less
tui	T047
Gene Locus	14q24.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618010
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4747891
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display