Experimental Factor Ontology

Last uploaded: June 18, 2024
Preferred Name

lysosomal storage disease with skeletal involvement

Synonyms

dysostosis multiplex

ID

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

database_cross_reference

SCTID:254069004

Orphanet:93448

GARD:19203

ICD9:756.9

exactMatch

http://identifiers.org/snomedct/254069004

http://purl.obolibrary.org/obo/Orphanet_93448

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/mondo-base#rare

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

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

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

label

lysosomal storage disease with skeletal involvement

notation

MONDO:0800088

prefLabel

lysosomal storage disease with skeletal involvement

subClassOf

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

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