Medical Subject Headings

Last uploaded: November 5, 2019
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Preferred Name

Krabbe Disease, Atypical, due to Saposin A Deficiency
Synonyms

Saposin A Deficiency
ID

http://purl.bioontology.org/ontology/MESH/C567097
altLabel

Saposin A Deficiency
cui

C2673266
Has mapping qualifier

http://purl.bioontology.org/ontology/MESH/Q000172
HM

D007965

D049231/Q000172
Inverse of RB

0
Mapped to

http://purl.bioontology.org/ontology/MESH/D007965

http://purl.bioontology.org/ontology/MESH/D049231
MDA

20121105
MeSH Frequency

0
MMR

20131106
notation

C567097
prefLabel

Krabbe Disease, Atypical, due to Saposin A Deficiency
SC

3
Scope Statement

mutation in prosaposin
TERMUI

T809768

T827260
TH

OMIM (2013)
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/176801 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/611722 Online Mendelian Inheritance in Man CUI
http://purl.bioontology.org/ontology/OMIM/611722 Online Mendelian Inheritance in Man LOOM