Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	STRIATONIGRAL DEGENERATION, INFANTILE
Synonyms	IBSN
ID	http://purl.bioontology.org/ontology/OMIM/271930
altLabel	IBSN SNDI STRIATAL DEGENERATION, FAMILIAL BILATERAL STRIATAL NECROSIS, INFANTILE INFANTILE BILATERAL STRIATAL NECROSIS
cui	C0795996
Gene Locus	19q13.33
Gene Symbol	SNDI IBSN NUP62
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU036384 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU009226 http://purl.bioontology.org/ontology/OMIM/MTHU028636 http://purl.bioontology.org/ontology/OMIM/MTHU009230 http://purl.bioontology.org/ontology/OMIM/MTHU009228 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU001319 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU009229 http://purl.bioontology.org/ontology/OMIM/MTHU009227 http://purl.bioontology.org/ontology/OMIM/MTHU000300 http://purl.bioontology.org/ontology/OMIM/MTHU028635 http://purl.bioontology.org/ontology/OMIM/MTHU009231
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	271930
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	STRIATONIGRAL DEGENERATION, INFANTILE
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C537500	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C537500	Medical Subject Headings	LOOM