Mondo Disease Ontology

Last uploaded: November 25, 2024

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Preferred Name	spondyloepiphyseal dysplasia congenita
Synonyms	congenital spondyloepiphyseal dysplasia SED congenita spondyloepiphyseal dysplasia, congenital type Spranger-Wiedemann disease Spondyloepiphyseal Dysplasia, Congenital spondyloepiphyseal dysplasia congenita SEDC
Definitions	A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
ID	http://purl.obolibrary.org/obo/MONDO_0008471
curated content resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0008471
database_cross_reference	OMIM:183900 NORD:1733 MedDRA:10062920 ICD9:756.9 GARD:4987 NANDO:2201348 MEDGEN:412530 SCTID:278713008 ICD10CM:Q77.7 Orphanet:94068 DOID:14789 UMLS:C2745959 MESH:C535788
definition	A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
has_exact_synonym	SED congenita spondyloepiphyseal dysplasia, congenital type Spranger-Wiedemann disease Spondyloepiphyseal Dysplasia, Congenital spondyloepiphyseal dysplasia congenita SEDC
has_related_synonym	congenital spondyloepiphyseal dysplasia
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5285 https://github.com/monarch-initiative/mondo/issues/4948
id	MONDO:0008471
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label	spondyloepiphyseal dysplasia congenita
notation	MONDO:0008471
prefLabel	spondyloepiphyseal dysplasia congenita
seeAlso	https://rarediseases.info.nih.gov/diseases/4987/spondyloepiphyseal-dysplasia-congenita
skos_broadMatch	http://purl.bioontology.org/ontology/ICD10CM/Q77.7
skos_closeMatch	http://identifiers.org/meddra/10062920
skos_exactMatch	http://purl.obolibrary.org/obo/DOID_14789 http://linkedlifedata.com/resource/umls/id/C2745959 https://omim.org/entry/183900 http://identifiers.org/snomedct/278713008 http://identifiers.org/mesh/C535788 http://purl.obolibrary.org/obo/Orphanet_94068 http://identifiers.org/medgen/412530
treeView	http://purl.obolibrary.org/obo/MONDO_0016761 http://purl.obolibrary.org/obo/MONDO_0022800
subClassOf	http://purl.obolibrary.org/obo/MONDO_0016761 http://purl.obolibrary.org/obo/MONDO_0022800

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0008471	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008471	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008471	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0008471	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_14789	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_14789	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_14789	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_14789	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_14789	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_14789	FNS-H	LOOM
http://www.orpha.net/ORDO/Orphanet_94068	ORDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10074799	MEDDRA	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A21	SNMI	LOOM
rgo:12521	GAMUTS	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG46000	RCTV2	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535788	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12548	HRDO	LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Spondyloepiphyseal_dysplasia,_congenita	RPO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008471	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0008471	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008471	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0008471	DOVES	LOOM
http://nanbyodata.jp/ontology/NANDO_2201348	NANDO	LOOM
http://purl.bioontology.org/ontology/OMIM/183900	OMIM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/278713008	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MESH/C535788	MESH	LOOM
http://purl.bioontology.org/ontology/RCD/XE1MB	RCD	LOOM