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Preferred Name

Schwartz-Jampel syndrome
Synonyms

Myotonia chondrodystrophica

Osteochondromuscular dystrophy
ID

http://purl.bioontology.org/ontology/SNMI/D4-00626
altLabel

Myotonia chondrodystrophica

Osteochondromuscular dystrophy
cui

C0036391
notation

D4-00626
prefLabel

Schwartz-Jampel syndrome
tui

T047
subClassOf

http://purl.bioontology.org/ontology/SNMI/D4-00600
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http://purl.bioontology.org/ontology/MSHFRE/D010009 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10082378 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.13 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/29145002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D010009 MESH CUI
http://purl.bioontology.org/ontology/OMIM/255800 OMIM CUI
http://purl.bioontology.org/ontology/MDRGER/10082710 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10082710 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10082378 MDRGER CUI
http://purl.bioontology.org/ontology/ICD9CM/359.23 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10082710 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/29145002 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/PG421 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10082378 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0009717 MONDO LOOM
rgo:27459 GAMUTS LOOM
http://nanbyodata.jp/ontology/NANDO_2100235 NANDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/29145002 SNOMEDCT LOOM
http://purl.org/skeletome/bonedysplasia#Schwartz_Jampel_syndrome BDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200224 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200876 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C35008 BERO LOOM
http://purl.obolibrary.org/obo/OMIM_255800 CCO LOOM
http://www.orpha.net/ORDO/Orphanet_800 ORDO LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#11106 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0009717 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0009717 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009717 DOVES LOOM
http://www.limics.org/hrdo/rdfns#pat_id_215 HRDO LOOM
http://purl.bioontology.org/ontology/RCD/PG421 RCD LOOM
http://purl.obolibrary.org/obo/DOID_5617 CLO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10082378 MEDDRA LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0036391 OCHV LOOM
http://identifiers.org/omim/255800 REXO LOOM
http://identifiers.org/omim/255800 GEXO LOOM
http://identifiers.org/omim/255800 RETO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C35008 NCIT LOOM