Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
Synonyms	SAPOSIN A DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/611722
altLabel	SAPOSIN A DEFICIENCY
cui	C2673266
Gene Locus	10q22.1
Gene Symbol	PSAP SAP1
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003761 http://purl.bioontology.org/ontology/OMIM/MTHU010474 http://purl.bioontology.org/ontology/OMIM/MTHU030111 http://purl.bioontology.org/ontology/OMIM/MTHU041789 http://purl.bioontology.org/ontology/OMIM/MTHU021599 http://purl.bioontology.org/ontology/OMIM/MTHU021600 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000961 http://purl.bioontology.org/ontology/OMIM/MTHU021597 http://purl.bioontology.org/ontology/OMIM/MTHU021598 http://purl.bioontology.org/ontology/OMIM/MTHU021601 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU000387 http://purl.bioontology.org/ontology/OMIM/MTHU001301
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	611722
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C567097	Medical Subject Headings	CUI
	http://purl.bioontology.org/ontology/MESH/C567097	Medical Subject Headings	LOOM