Experimental Factor Ontology

Last uploaded: December 16, 2024
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Preferred Name

lysosomal storage disease with skeletal involvement
Synonyms

dysostosis multiplex
ID

http://purl.obolibrary.org/obo/MONDO_0800088
database_cross_reference

SCTID:254069004

SCTID:279081001

Orphanet:93448

GARD:19203

ICD9:756.9
exactMatch

http://www.orpha.net/ORDO/Orphanet_93448

http://identifiers.org/snomedct/254069004

http://identifiers.org/snomedct/279081001
has_exact_synonym

dysostosis multiplex
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948
id

MONDO:0800088
in_subset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#otar

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
label

lysosomal storage disease with skeletal involvement
notation

MONDO:0800088
preferred label

lysosomal storage disease with skeletal involvement
prefLabel

lysosomal storage disease with skeletal involvement
subClassOf

http://purl.obolibrary.org/obo/MONDO_0018230
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