Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	DYSTROPHIN
Synonyms	DUCHENNE MUSCULAR DYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENCE OF ERG B-WAVE BECKER MUSCULAR DYSTROPHY, ATYPICAL INTERMEDIATE MUSCULAR DYSTROPHY APO-DYSTROPHIN 1 BECKER MUSCULAR DYSTROPHY DMD CARDIOMYOPATHY, DILATED, 3B DUCHENNE MUSCULAR DYSTROPHY
ID	http://purl.bioontology.org/ontology/OMIM/300377
altLabel	DUCHENNE MUSCULAR DYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENCE OF ERG B-WAVE BECKER MUSCULAR DYSTROPHY, ATYPICAL INTERMEDIATE MUSCULAR DYSTROPHY APO-DYSTROPHIN 1 BECKER MUSCULAR DYSTROPHY DMD CARDIOMYOPATHY, DILATED, 3B DUCHENNE MUSCULAR DYSTROPHY
cui	C4016475 C1414083 C3668940 C5774325 C0013264 C4016477 C0917713
Gene Locus	Xp21.2
Gene Symbol	CMD3B DMD BMD
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/300377.0002 http://purl.bioontology.org/ontology/OMIM/300377.0001 http://purl.bioontology.org/ontology/OMIM/300377.0008 http://purl.bioontology.org/ontology/OMIM/300377.0007 http://purl.bioontology.org/ontology/OMIM/300377.0009 http://purl.bioontology.org/ontology/OMIM/300377.0005 http://purl.bioontology.org/ontology/OMIM/300377.0003 http://purl.bioontology.org/ontology/OMIM/300377.0004 http://purl.bioontology.org/ontology/OMIM/300377.0006 http://purl.bioontology.org/ontology/OMIM/300377.0080 http://purl.bioontology.org/ontology/OMIM/300377.0084 http://purl.bioontology.org/ontology/OMIM/300377.0083 http://purl.bioontology.org/ontology/OMIM/300377.0081 http://purl.bioontology.org/ontology/OMIM/300377.0082 http://purl.bioontology.org/ontology/OMIM/300377.0086 http://purl.bioontology.org/ontology/OMIM/300377.0085 http://purl.bioontology.org/ontology/OMIM/300377.0060 http://purl.bioontology.org/ontology/OMIM/300377.0061 http://purl.bioontology.org/ontology/OMIM/300377.0064 http://purl.bioontology.org/ontology/OMIM/300377.0068 http://purl.bioontology.org/ontology/OMIM/300377.0063 http://purl.bioontology.org/ontology/OMIM/300377.0062 http://purl.bioontology.org/ontology/OMIM/300377.0067 http://purl.bioontology.org/ontology/OMIM/300377.0065 http://purl.bioontology.org/ontology/OMIM/300377.0069 http://purl.bioontology.org/ontology/OMIM/300377.0066 http://purl.bioontology.org/ontology/OMIM/300377.0047 http://purl.bioontology.org/ontology/OMIM/300377.0046 http://purl.bioontology.org/ontology/OMIM/300377.0044 http://purl.bioontology.org/ontology/OMIM/300377.0040 http://purl.bioontology.org/ontology/OMIM/300377.0048 http://purl.bioontology.org/ontology/OMIM/300377.0049 http://purl.bioontology.org/ontology/OMIM/300377.0045 http://purl.bioontology.org/ontology/OMIM/300377.0042 http://purl.bioontology.org/ontology/OMIM/300377.0041 http://purl.bioontology.org/ontology/OMIM/300377.0043 http://purl.bioontology.org/ontology/OMIM/300377.0070 http://purl.bioontology.org/ontology/OMIM/300377.0079 http://purl.bioontology.org/ontology/OMIM/300377.0073 http://purl.bioontology.org/ontology/OMIM/300377.0071 http://purl.bioontology.org/ontology/OMIM/300377.0076 http://purl.bioontology.org/ontology/OMIM/300377.0078 http://purl.bioontology.org/ontology/OMIM/300377.0074 http://purl.bioontology.org/ontology/OMIM/300377.0072 http://purl.bioontology.org/ontology/OMIM/300377.0075 http://purl.bioontology.org/ontology/OMIM/300377.0077 http://purl.bioontology.org/ontology/OMIM/300377.0056 http://purl.bioontology.org/ontology/OMIM/300377.0051 http://purl.bioontology.org/ontology/OMIM/300377.0052 http://purl.bioontology.org/ontology/OMIM/300377.0057 http://purl.bioontology.org/ontology/OMIM/300377.0059 http://purl.bioontology.org/ontology/OMIM/300377.0054 http://purl.bioontology.org/ontology/OMIM/300377.0050 http://purl.bioontology.org/ontology/OMIM/300377.0055 http://purl.bioontology.org/ontology/OMIM/300377.0053 http://purl.bioontology.org/ontology/OMIM/300377.0058 http://purl.bioontology.org/ontology/OMIM/300377.0020 http://purl.bioontology.org/ontology/OMIM/300377.0029 http://purl.bioontology.org/ontology/OMIM/300377.0022 http://purl.bioontology.org/ontology/OMIM/300377.0026 http://purl.bioontology.org/ontology/OMIM/300377.0021 http://purl.bioontology.org/ontology/OMIM/300377.0024 http://purl.bioontology.org/ontology/OMIM/300377.0027 http://purl.bioontology.org/ontology/OMIM/300377.0028 http://purl.bioontology.org/ontology/OMIM/300377.0025 http://purl.bioontology.org/ontology/OMIM/300377.0023 http://purl.bioontology.org/ontology/OMIM/300377.0015 http://purl.bioontology.org/ontology/OMIM/300377.0018 http://purl.bioontology.org/ontology/OMIM/300377.0012 http://purl.bioontology.org/ontology/OMIM/300377.0010 http://purl.bioontology.org/ontology/OMIM/300377.0014 http://purl.bioontology.org/ontology/OMIM/300377.0011 http://purl.bioontology.org/ontology/OMIM/300377.0019 http://purl.bioontology.org/ontology/OMIM/300377.0013 http://purl.bioontology.org/ontology/OMIM/300377.0017 http://purl.bioontology.org/ontology/OMIM/300377.0016 http://purl.bioontology.org/ontology/OMIM/300377.0039 http://purl.bioontology.org/ontology/OMIM/300377.0038 http://purl.bioontology.org/ontology/OMIM/300377.0030 http://purl.bioontology.org/ontology/OMIM/300377.0036 http://purl.bioontology.org/ontology/OMIM/300377.0035 http://purl.bioontology.org/ontology/OMIM/300377.0037 http://purl.bioontology.org/ontology/OMIM/300377.0033 http://purl.bioontology.org/ontology/OMIM/300377.0032 http://purl.bioontology.org/ontology/OMIM/300377.0031 http://purl.bioontology.org/ontology/OMIM/300377.0034
MIMTYPEMEANING	Gene with known sequence
notation	300377
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	DYSTROPHIN
tui	T047 T033 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/LNC/LP19502-1	LOINC	CUI
http://purl.bioontology.org/ontology/SCTSPA/702424003	SCTSPA	CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013264	MEDLINEPLUS	CUI
http://purl.bioontology.org/ontology/SCTSPA/387732009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/702424003	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C580047	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10013801	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNMI/DA-51220	SNMI	CUI
http://purl.bioontology.org/ontology/CSP/5006-0010	CRISP	CUI
http://purl.bioontology.org/ontology/SCTSPA/76670001	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/387732009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/76670001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020388	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10013801	MDRGER	CUI
http://purl.bioontology.org/ontology/MEDDRA/10013801	MEDDRA	CUI
http://purl.bioontology.org/ontology/MESH/D020388	MESH	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004131	NDFRT	CUI
http://purl.bioontology.org/ontology/RCD/F3910	RCD	CUI
http://purl.bioontology.org/ontology/CSP/1849-6662	CRISP	CUI
http://purl.bioontology.org/ontology/CSP/5006-0010	CRISP	CUI
http://purl.bioontology.org/ontology/MDRGER/10059117	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/387732009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020388	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/F3918	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D020388	MESH	CUI
http://purl.bioontology.org/ontology/RCD/Xa9Bp	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10059117	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10059117	MDRFRE	CUI
http://purl.obolibrary.org/obo/PR_000006537	OBA	LOOM
http://purl.obolibrary.org/obo/PR_000006537	EFO	LOOM
http://purl.obolibrary.org/obo/OMIT_0016735	OMIT	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00022558	PMAPP-PMO	LOOM
http://purl.obolibrary.org/obo/NCIT_C75325	BERO	LOOM
http://purl.bioontology.org/ontology/MESH/D016189	MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75325	NCIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0079259	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.543.250	RH-MESH	LOOM
http://purl.bioontology.org/ontology/CSP/4001-0044	CRISP	LOOM
http://purl.obolibrary.org/obo/IMR_0000204	HOIP	LOOM
http://purl.obolibrary.org/obo/IMR_0000204	TXPO	LOOM
http://purl.org/obo/owlapi/fma#FMA_62357	BIOMODELS	LOOM
http://localhost/plosthes.2017-1#5058	PLOSTHES	LOOM
http://purl.jp/bio/4/id/200906091977832006	IOBC	LOOM
http://id.nlm.nih.gov/mesh/D016189	MDM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016189	RH-MESH	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#15136	OCHV	LOOM
http://purl.obolibrary.org/obo/PR_000006537	PR	LOOM
http://purl.obolibrary.org/obo/PR_000006537	NIFSTD	LOOM
http://purl.obolibrary.org/obo/MESH_D016189	BERO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.210.500.250	RH-MESH	LOOM
http://purl.org/sig/ont/fma/fma62357	FMA	LOOM
http://www.orpha.net/ORDO/Orphanet_121117	ORDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.220.250	RH-MESH	LOOM