Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

SMITH-MAGENIS SYNDROME
Synonyms

SMCR

SMITH-MAGENIS SYNDROME CHROMOSOME REGION

CHROMOSOME 17p11.2 DELETION SYNDROME

SMS
ID

http://purl.bioontology.org/ontology/OMIM/182290
altLabel

SMCR

SMITH-MAGENIS SYNDROME CHROMOSOME REGION

CHROMOSOME 17p11.2 DELETION SYNDROME

SMS
cui

C0795864

C1866927
Gene Locus

17p11.2
Gene Symbol

SMS

SMCR

RAI1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU014364

http://purl.bioontology.org/ontology/OMIM/MTHU010437

http://purl.bioontology.org/ontology/OMIM/MTHU067401

http://purl.bioontology.org/ontology/OMIM/MTHU015627

http://purl.bioontology.org/ontology/OMIM/MTHU015622

http://purl.bioontology.org/ontology/OMIM/MTHU015621

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU000244

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU015628

http://purl.bioontology.org/ontology/OMIM/MTHU015630

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU006930

http://purl.bioontology.org/ontology/OMIM/MTHU015625

http://purl.bioontology.org/ontology/OMIM/MTHU031464

http://purl.bioontology.org/ontology/OMIM/MTHU015624

http://purl.bioontology.org/ontology/OMIM/MTHU015631

http://purl.bioontology.org/ontology/OMIM/MTHU015623

http://purl.bioontology.org/ontology/OMIM/MTHU000324

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU015626

http://purl.bioontology.org/ontology/OMIM/MTHU000700

http://purl.bioontology.org/ontology/OMIM/MTHU036364

http://purl.bioontology.org/ontology/OMIM/MTHU008662
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

182290
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SMITH-MAGENIS SYNDROME
Scope Statement

Contiguous gene deletion syndrome caused by deletion (650kb-3.7Mb) of 17p11.2 [MOLECULAR BASIS]

Most cases result from de novo mutation or deletion of RAI1 (607642) [MISCELLANEOUS]

Caused by mutation in the retinoic acid-induced gene 1 (RAI1, 607642.0004) [MOLECULAR BASIS]
tui

T047

T033
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/401315004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10081680 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/5002-0024 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D058496 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10081680 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D058496 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000182203 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/401315004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q93.88 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10081680 MDRFRE CUI
http://purl.obolibrary.org/obo/DOID_0060768 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060768 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060768 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060768 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060768 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0027241 OMIT LOOM
http://www.orpha.net/ORDO/Orphanet_819 ORDO LOOM
http://purl.obolibrary.org/obo/GSSO_006996 GSSO LOOM
http://identifiers.org/omim/182290 REXO LOOM
http://identifiers.org/omim/182290 GEXO LOOM
http://identifiers.org/omim/182290 RETO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081680 MEDDRA LOOM
http://purl.bioontology.org/ontology/CSP/5002-0024 CRISP LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.879 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D058496 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCTV2/PJ33300 RCTV2 LOOM
http://purl.obolibrary.org/obo/NCIT_C75469 BERO LOOM
http://purl.bioontology.org/ontology/MESH/D058496 MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_387 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200687 NANDO LOOM
http://purl.jp/bio/4/id/201106036969312971 IOBC LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/401315004 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/OMIM_182290 CCO LOOM
http://nanbyodata.jp/ontology/NANDO_2200954 NANDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.260.887 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75469 NCIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040057 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0008434 DOVES LOOM
rgo:26266 GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.281.900 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.180.887 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0795864 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Smith_Magenis_Syndrome CSEO LOOM