Mondo Disease Ontology

Last uploaded: May 9, 2024
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Preferred Name

spondyloepiphyseal dysplasia
Synonyms

SED

spondyloepiphyseal dysplasia
Definitions

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.
ID

http://purl.obolibrary.org/obo/MONDO_0016761
closeMatch

http://identifiers.org/meddra/10062920
database_cross_reference

DOID:0112280

MedDRA:10062920

ICD9:756.9

Orphanet:252
definition

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis.
exactMatch

http://purl.obolibrary.org/obo/DOID_0112280
has_exact_synonym

SED

spondyloepiphyseal dysplasia
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/7065

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

MONDO:0016761
in_subset

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

http://purl.obolibrary.org/obo/mondo#nord_rare

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

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

spondyloepiphyseal dysplasia
notation

MONDO:0016761
prefLabel

spondyloepiphyseal dysplasia
treeView

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

http://purl.obolibrary.org/obo/MONDO_0005516
subClassOf

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

http://purl.obolibrary.org/obo/MONDO_0005516
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0016761 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016761 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016761 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016761 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016761 KTAO SAME_URI
http://purl.bioontology.org/ontology/RCTV2/PG46.00 RCTV2 LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#11653 OCHV LOOM
http://purl.jp/bio/4/id/200906086101951217 IOBC LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0038015 OCHV LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.7 ICD10CM LOOM
http://www.phoc.org.cn/pmo/class/PMO_00013963 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.7 ICD10 LOOM
http://purl.obolibrary.org/obo/MONDO_0016761 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016761 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016761 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0016761 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0016761 KTAO LOOM
http://purl.obolibrary.org/obo/HP_0002655 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0002655 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002655 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002655 HP LOOM
http://purl.obolibrary.org/obo/HP_0002655 UPHENO LOOM
rgo:09491 GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_919 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_0112280 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0112280 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0112280 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0112280 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0112280 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_0112280 FNS-H LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14789 NATPRO LOOM
http://www.semanticweb.org/ontologies/2012/11/abnormalities.owl#phenodb:1368 IFAR LOOM
http://purl.bioontology.org/ontology/MEDDRA/10062920 MEDDRA LOOM
http://purl.org/obo/owl/HP#HP_0002655 BDO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU001959 OMIM LOOM