Experimental Factor Ontology

Last uploaded: November 18, 2024
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

UMLS:C0410528

MEDGEN:98053

definition

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C0410528

http://identifiers.org/medgen/98053

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

preferred label

skeletal dysplasia

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 GCBO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 MONDO 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 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 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 DOVES 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 DOID 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