Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

skeletal dysplasia
Synonyms

primary osteodysplasia

primary skeletal dysplasia

primary bone dysplasia

Mendelian skeletal dysplasia
Definitions

Any Mendelian diseases that affects growth and development of the skeleton.
ID

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

primary osteodysplasia

primary skeletal dysplasia

primary bone dysplasia

Mendelian skeletal dysplasia
definition

Any Mendelian diseases that affects growth and development of the skeleton.
has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136
has_exact_synonym

primary osteodysplasia

primary skeletal dysplasia

primary bone dysplasia

Mendelian skeletal dysplasia
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4995
label

skeletal dysplasia
prefixIRI

MONDO:0018230
prefLabel

skeletal dysplasia
textual definition

Any Mendelian diseases that affects growth and development of the skeleton.
subClassOf

http://purl.obolibrary.org/obo/MONDO_0005381

http://purl.obolibrary.org/obo/MONDO_0003847
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http://purl.obolibrary.org/obo/MONDO_0018230 GCBO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 OBA SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 OBA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0410528 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00013956 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/HP_0002652 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0002652 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002652 DOID LOOM
http://purl.obolibrary.org/obo/HP_0002652 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002652 HP LOOM
http://purl.obolibrary.org/obo/HP_0002652 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0002652 DDSS LOOM
http://purl.obolibrary.org/obo/HP_0002652 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0002652 NIFSTD LOOM
http://purl.obolibrary.org/obo/HP_0002652 OBA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/105986008 SNOMEDCT LOOM
http://radlex.org/RID/RID34679 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#32821 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Skeletal_dysplasia RPO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072610 MEDDRA LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU042509 OMIM LOOM
http://purl.bioontology.org/ontology/RCD/X70BZ RCD LOOM
http://purl.org/obo/owl/HP#HP_0002652 BDO LOOM
rgo:20026 GAMUTS LOOM