Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

Spondyloepiphyseal dysplasia
Synonyms
ID

http://purl.bioontology.org/ontology/OMIM/MTHU001959
cui

C2745959
Manifestation of

http://purl.bioontology.org/ontology/OMIM/616651

http://purl.bioontology.org/ontology/OMIM/611717

http://purl.bioontology.org/ontology/OMIM/608361

http://purl.bioontology.org/ontology/OMIM/143095

http://purl.bioontology.org/ontology/OMIM/271700

http://purl.bioontology.org/ontology/OMIM/242900

http://purl.bioontology.org/ontology/OMIM/300998

http://purl.bioontology.org/ontology/OMIM/618392

http://purl.bioontology.org/ontology/OMIM/184095
notation

MTHU001959
prefLabel

Spondyloepiphyseal dysplasia
tui

T019
subClassOf

http://purl.bioontology.org/ontology/OMIM/MTHU000029

http://purl.bioontology.org/ontology/OMIM/MTHU000034
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http://purl.bioontology.org/ontology/MDRGER/10062920 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10074799 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10074799 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/278713008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A21 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10062920 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/Q77.7 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10/Q77.7 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10074799 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/Xa0pG RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/278713008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C535788 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10062920 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/XE1MB RCD CUI
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 DOID 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