Gene Expression Ontology

Last uploaded: December 16, 2015

Preferred Name	Dihydropyrimidinase deficiency
Synonyms	DHPD
Definitions	(DHPD) - A disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy.
ID	http://identifiers.org/omim/222748
altLabel	DHPD
definition	(DHPD) - A disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy.
id	OMIM:222748
notation	OMIM:222748
prefLabel	Dihydropyrimidinase deficiency
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/222748	REXO	SAME_URI
http://identifiers.org/omim/222748	RETO	SAME_URI
http://purl.obolibrary.org/obo/DOID_0111629	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0111629	DOID	LOOM
http://identifiers.org/omim/222748	REXO	LOOM
http://identifiers.org/omim/222748	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C562815	MESH	LOOM
http://purl.bioontology.org/ontology/RCD/X40Up	RCD	LOOM
http://purl.bioontology.org/ontology/OMIM/222748	OMIM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/238014002	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/DOID_0111629	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0111629	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0111629	FNS-H	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C562815	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_222748	CCO	LOOM