Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	Spondyloepiphyseal dysplasia
ID	http://purl.bioontology.org/ontology/OMIM/MTHU001959
cui	C2745959
Manifestation of	http://purl.bioontology.org/ontology/OMIM/242900 http://purl.bioontology.org/ontology/OMIM/300998 http://purl.bioontology.org/ontology/OMIM/143095 http://purl.bioontology.org/ontology/OMIM/611717 http://purl.bioontology.org/ontology/OMIM/271700 http://purl.bioontology.org/ontology/OMIM/616651 http://purl.bioontology.org/ontology/OMIM/608361
notation	MTHU001959
prefLabel	Spondyloepiphyseal dysplasia
tui	T019
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000034 http://purl.bioontology.org/ontology/OMIM/MTHU000029

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/ICD10CM/Q77.7	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.7	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.7	International Classification of Diseases, Version 10	CUI
http://purl.bioontology.org/ontology/ICD10/Q77.7	International Classification of Diseases, Version 10	LOOM
http://purl.obolibrary.org/obo/DOID_0112280	Human Disease Ontology 123	LOOM
http://purl.bioontology.org/ontology/MESH/C535788	Medical Subject Headings	CUI