Preferred Name

GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY

Synonyms

GDSAPC

ID

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

altLabel

GDSAPC

SAPOSIN C DEFICIENCY

cui

C1864651

Gene Locus

10q22.1

Gene Symbol

PSAPD

PSAP

SAP1

PARK24

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 / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C566435 Medical Subject Headings / 医学主题词表 LOOM