Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/610539

cui

C1864651

Gene Locus

10q22.1

Gene Symbol

PSAP

SAP1

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

610539

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY

tui

T047

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http://purl.bioontology.org/ontology/MESH/C566435 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566435 Medical Subject Headings LOOM