Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	Spondyloepiphyseal dysplasia tarda
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU054115
cui	C0038015
Manifestation of	http://purl.bioontology.org/ontology/OMIM/600093
notation	MTHU054115
prefLabel	Spondyloepiphyseal dysplasia tarda
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000029

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/CSP/2715-1497	CRISP	CUI
http://purl.bioontology.org/ontology/MSHFRE/D010009	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/D010009	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0019667	MONDO	LOOM
http://purl.bioontology.org/ontology/RCTV2/PG46100	RCTV2	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/51952004	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00A40	SNMI	LOOM
http://www.gamuts.net/entity#spondyloepiphyseal_dysplasia_tarda	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_0112284	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0112284	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0112284	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0112284	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_0112284	FNS-H	LOOM
http://purl.obolibrary.org/obo/OMIM_313400	CCO	LOOM
http://purl.jp/bio/4/id/200906055276502439	IOBC	LOOM
http://www.orpha.net/ORDO/Orphanet_93284	ORDO	LOOM
http://identifiers.org/omim/313400	REXO	LOOM
http://identifiers.org/omim/313400	GEXO	LOOM
http://identifiers.org/omim/313400	RETO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019667	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019667	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019667	DOVES	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_12224	HRDO	LOOM