Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	CHROMOSOME Xp21 DELETION SYNDROME
Synonyms	COMPLEX GLYCEROL KINASE DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/300679
altLabel	COMPLEX GLYCEROL KINASE DEFICIENCY
cui	C0795887
Gene Locus	Xp21
Gene Symbol	CXDELp21 DELXp21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300679
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CHROMOSOME Xp21 DELETION SYNDROME
tui	T047

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D000075262	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D000075262	MESH	CUI
http://purl.obolibrary.org/obo/DOID_0060427	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0010399	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010399	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0060427	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0060427	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0060427	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060427	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060427	FNS-H	LOOM
http://purl.obolibrary.org/obo/MONDO_0010399	DOVES	LOOM