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About:
Bethlem myopathy
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New Facet based on Instances of this Class
human disease
Attributes
Values
rdf:type
Item
owl:sameAs
Bethlem myopathy
description
human disease
(en)
Krankheit
(de)
մարդու հիվանդություն
(hy)
хвороба людини
(uk)
مرض يصيب الإنسان
(ar)
exact match
wds:Q831363-36D19D3E-065A-454B-9A80-234DB2DD1B7A
wds:Q831363-50152EB8-CE74-4CAC-8354-D5F49692DEE3
wds:Q831363-6A76520F-0C29-42FB-A9E4-79C80B0E4EAA
exact match
http://purl.obolibrary.org/obo/DOID_0050663
http://identifiers.org/doid/DOID:0050663
http://www.orpha.net/ORDO/Orphanet_610
Mondo ID
wds:Q831363-905AFE98-5EFD-4F8C-BCF2-C36C130E52FE
DiseasesDB
wds:q831363-6BEEE70D-49D3-43F2-AFAB-B74B02F00BB0
Disease Ontology ID
wds:Q831363-397F7B4D-AC78-41FC-B04F-FB999CF42D70
Mondo ID
http://purl.obolibrary.org/obo/MONDO_0024530
Disease Ontology ID
http://purl.obolibrary.org/obo/DOID_DOID:0050663
Mondo ID
MONDO_0024530
DiseasesDB
32019
Disease Ontology ID
DOID:0050663
rdfs:label
Bethlem myopathy
(en)
Bethlem myopathy
(nl)
Bethlem-Myopathie
(de)
miopatía de Bethlem
(es)
myopathie de Bethlem
(fr)
sindrome di Bethlem
(it)
பெத்லம் தசை அழிவு
(ta)
skos:prefLabel
Bethlem myopathy
(en)
Bethlem myopathy
(nl)
Bethlem-Myopathie
(de)
miopatía de Bethlem
(es)
myopathie de Bethlem
(fr)
sindrome di Bethlem
(it)
பெத்லம் தசை அழிவு
(ta)
name
Bethlem myopathy
(en)
Bethlem myopathy
(nl)
Bethlem-Myopathie
(de)
miopatía de Bethlem
(es)
myopathie de Bethlem
(fr)
sindrome di Bethlem
(it)
பெத்லம் தசை அழிவு
(ta)
Freebase ID
wds:Q831363-8B04CBA3-7DD3-4C68-A705-C366DDFCD1C9
Freebase ID
/m/0285h8s
instance of
wds:Q831363-8277C612-C0C3-4EBE-8F21-C0C2C4080BCB
wds:Q831363-E48B9AF9-F99A-4973-93FD-33163EBF8C1C
instance of
class of disease
designated intractable/rare disease
subclass of
wds:Q831363-81DE3AAF-B0A9-427E-97E8-951054A8E86F
wds:Q831363-935e8c6b-43cf-5469-8367-014681aed5c4
subclass of
congenital muscular dystrophy
Collagen VI myopathy
KEGG ID
wds:Q831363-0E4F90F8-F099-4714-B2F8-8602CE49D329
KEGG ID
http://www.kegg.jp/entry/H01340
KEGG ID
H01340
UniProt disease ID
wds:Q831363-d6a9dfc6-4935-5c74-a64d-2a4717c9de52
Orphanet ID
wds:Q831363-7FE68635-6B24-402C-A355-57D3FFA382D6
genetic association
wds:Q831363-448ED178-23B4-49BB-BC04-4C4D875C9FBD
wds:Q831363-4ADA58F9-42E1-459E-95AA-2DB94002DC98
wds:Q831363-FFC427A8-5FC5-40C8-940F-608C15C9980C
PatientsLikeMe condition ID
wds:Q831363-da21fc1d-43c3-0f0f-2c00-4cbe8b515dc1
GARD rare disease ID
wds:Q831363-0A86007B-F6D8-4A32-AE2C-2B354B02F64F
OMIM ID
wds:Q831363-53F0FF5B-79D3-401D-AAF6-17D0FFB6DCD8
wds:q831363-77541088-6266-49B0-BA14-C2B82122F69F
UniProt disease ID
DI-00188
Orphanet ID
610
genetic association
COL6A1
COL6A2
COL6A3
PatientsLikeMe condition ID
Bethlem-myopathy
GARD rare disease ID
873
OMIM ID
158810
named after
wds:Q831363-400052d9-4048-7ce3-97d2-a0bcf2ed38d8
named after
Jaap Bethlem
skos:altLabel
BTHLM1
(en)
BETHLEM MYOPATHY 1; BTHLM1
(en)
Beth Rem myopathy
(en)
Bethlem Myopathy
(en)
Miopatia di Bethlem
(it)
Muscular Dystrophy, Benign Congenital
(en)
Myopathie De Bethlem
(fr)
Myopathie de bethlem
(fr)
Myopathy, Benign Congenital, With Contractures
(en)
benign congenital muscular dystrophy
(en)
miopatia de Bethlem
(es)
sindrome de Bethlem
(es)
síndrome de Bethlem
(es)
external data available at URL
wds:Q831363-6E0CE894-270C-44F1-9E52-F41C9FFE25A0
NCI Thesaurus ID
wds:Q831363-8ae43e4e-4289-f67c-c904-30792e8ea0bb
BabelNet ID
wds:Q831363-83A45CDA-90B1-4AAB-AF55-1E1213E829F4
UMLS CUI
wds:Q831363-7FDFD9F2-F2F4-44B7-B048-36B154AA6416
wds:Q831363-9D94E9A6-36F7-4CF1-89CA-72A1AB784666
on focus list of Wikimedia project
wds:Q831363-39AB33B0-E7AC-4B84-9124-7F706D0DBF89
Microsoft Academic ID
wds:Q831363-039F1186-3517-45AD-98BB-B4AAC58965CD
ICD-11 (foundation)
wds:Q831363-bd795874-4e04-6b96-f737-b0b348737043
BabelNet ID
http://babelnet.org/rdf/s03829910n
Microsoft Academic ID
https://makg.org/entity/2779447238
external data available at URL
http://www.nanbyou.or.jp/entry/4005
NCI Thesaurus ID
C126688
BabelNet ID
03829910n
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