FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

spondyloepiphyseal dysplasia
Synonyms
Definitions

An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
ID

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

An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.
imported from

http://purl.obolibrary.org/obo/doid.owl
label

spondyloepiphyseal dysplasia
prefixIRI

DOID:0112280
prefLabel

spondyloepiphyseal dysplasia
subClassOf

http://purl.obolibrary.org/obo/DOID_2256
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http://purl.obolibrary.org/obo/DOID_0112280 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0112280 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0112280 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0112280 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0112280 MIDO 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 MONDO 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://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