Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

filamin-related bone disorder
Synonyms

bone filaminopathy

ID

http://purl.obolibrary.org/obo/MONDO_0019690

database_cross_reference

Orphanet:93425

MEDGEN:1842239

UMLS:C5680280

GARD:19190

exactMatch

http://purl.obolibrary.org/obo/Orphanet_93425

http://identifiers.org/medgen/1842239

http://linkedlifedata.com/resource/umls/id/C5680280

has_exact_synonym

bone filaminopathy

IAO_0000233

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

id

MONDO:0019690

in_subset

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

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

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

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

label

filamin-related bone disorder

notation

MONDO:0019690

preferred label

filamin-related bone disorder

prefLabel

filamin-related bone disorder

subClassOf

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

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