Experimental Factor Ontology

Last uploaded: June 18, 2024
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Preferred Name

skeletal dysplasia
Synonyms

primary osteodysplasia

Mendelian skeletal dysplasia

primary bone dysplasia

primary skeletal dysplasia
Definitions

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

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

Orphanet:364526
definition

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

http://purl.obolibrary.org/obo/Orphanet_364526
has_exact_synonym

primary osteodysplasia

Mendelian skeletal dysplasia

primary bone dysplasia

primary skeletal dysplasia
IAO_0000233

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

MONDO:0018230
in_subset

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

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

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

skeletal dysplasia
notation

MONDO:0018230
prefLabel

skeletal dysplasia
subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

http://www.ebi.ac.uk/efo/EFO_0004260
excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0015958

http://purl.obolibrary.org/obo/MONDO_0018457

http://purl.obolibrary.org/obo/MONDO_0005497
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018230 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 OBA SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 GCBO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 OBA LOOM
http://purl.obolibrary.org/obo/HP_0002652 OBA LOOM
http://purl.obolibrary.org/obo/HP_0002652 DOID LOOM
http://purl.obolibrary.org/obo/HP_0002652 MAXO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 DOVES 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 HP LOOM
http://purl.obolibrary.org/obo/HP_0002652 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0002652 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0002652 NIFSTD 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
http://www.gamuts.net/entity#skeletal_dysplasia GAMUTS LOOM