Human Disease Ontology

Last uploaded: November 1, 2024
Preferred Name

spondyloepiphyseal dysplasia
Synonyms

SED

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

database_cross_reference

GARD:7687

definition

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

has exact synonym

SED

has_obo_namespace

disease_ontology

id

DOID:0112280

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

spondyloepiphyseal dysplasia

notation

DOID:0112280

prefLabel

spondyloepiphyseal dysplasia

subClassOf

http://purl.obolibrary.org/obo/DOID_2256

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Delete Mapping To Ontology Source
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.obolibrary.org/obo/DOID_0112280 FNS-H 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 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