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metachromatic leukodystrophy due to saposin B deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009590

Synonyms: metachromatic leukodystrophy due to saposin b deficiency metachromatic leukodystrophy due to sap-B deficiency metachromatic leukodystrophy due to saposin B deficiency

This is just here as a test because I lose it

Term information

database cross reference
Subsets

rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6019

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://linkedlifedata.com/resource/umls/id/C0268262

http://identifiers.org/snomedct/68390005

http://identifiers.org/mesh/C562609

https://omim.org/entry/249900

has related synonym

saposin B deficiency

metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

id

MONDO:0009590

seeAlso

https://rarediseases.info.nih.gov/diseases/10674/metachromatic-leukodystrophy-due-to-saposin-b-deficiency

https://search.clinicalgenome.org/kb/conditions/MONDO:0009590