Human Disease Ontology 123

Last uploaded: September 28, 2023
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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http://purl.bioontology.org/ontology/ICD10CM/Q77.7 International Classification of Diseases, Version 10 - Clinical Modification LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU001959 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.7 International Classification of Diseases, Version 10 LOOM