About: autosomal dominant limb-girdle muscular dystrophy

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About: autosomal dominant limb-girdle muscular dystrophy Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

limb-girdle muscular dystrophy that has material basis in autosomal dominant inheritance

Attributes	Values
rdf:type	Item
description	Krankheit (de) مرض يصيب الإنسان (ar) хвороба (uk) limb-girdle muscular dystrophy that has material basis in autosomal dominant inheritance (en)
exact match	wds:Q27429765-C9A78879-F08F-4785-8DBA-C212589BDF99 wds:Q27429765-CDBAB70E-0950-4DC8-AFB1-D121AA522FE2
exact match	http://purl.obolibrary.org/obo/DOID_0110273 http://identifiers.org/doid/DOID:0110273
health specialty	wds:Q27429765-F3959D30-4A4C-4B6E-91E2-3FB5C971068A
Mondo ID	wds:Q27429765-8011FCF6-3244-47D8-913E-FD5D1F72AA57
Disease Ontology ID	wds:Q27429765-A219AB91-0293-4884-896F-2E51AE59A69D
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0015151
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0110273
health specialty	neurology
Mondo ID	MONDO_0015151
Disease Ontology ID	DOID:0110273
rdfs:label	distrofia muscular de cinturas autosómica dominante (es) autosomal dominant limb-girdle muscular dystrophy (en) dystrophie musculaire des ceintures autosomique dominante (fr)
skos:prefLabel	distrofia muscular de cinturas autosómica dominante (es) autosomal dominant limb-girdle muscular dystrophy (en) dystrophie musculaire des ceintures autosomique dominante (fr)
name	distrofia muscular de cinturas autosómica dominante (es) autosomal dominant limb-girdle muscular dystrophy (en) dystrophie musculaire des ceintures autosomique dominante (fr)
instance of	wds:Q27429765-50CA65F2-5F97-443A-A806-A770EDF80C19 wds:Q27429765-749ACA73-6213-433B-8DF7-BE0E92921D42
instance of	class of disease rare disease
subclass of	wds:Q27429765-32860A7C-76FB-431A-8E0F-7D8BA506E8CF wds:Q27429765-F1B329E7-4F2D-475C-B8B0-73DEA616F119
subclass of	limb-girdle muscular dystrophy autosomal dominant disease
Orphanet ID	wds:Q27429765-4F96DD10-02F4-4DAA-BBE4-7284218E6F50
genetic association	wds:Q27429765-3DA5B398-92B7-4FCD-9892-E92AA62770B9
ICD-10-CM	wds:Q27429765-F24892AB-288C-4334-9BE0-EB79C0A80DF8
Orphanet ID	102014
genetic association	MYOT
ICD-10-CM	G71.0
skos:altLabel	limb-girdle muscular dystrophy, autosomal dominant (en) distrofia muscular de cinturas autosomica dominante (es)
UMLS CUI	wds:Q27429765-EEEBB736-6488-426A-A55F-D36DE05F149F
on focus list of Wikimedia project	wds:Q27429765-D80FC25B-23C4-47F2-9459-47B1B4C608CC
ICD-11 ID (MMS)	wds:Q27429765-6be3eb56-d837-40cd-9c70-89a61f066fda
ICD-11 (foundation)	wds:Q27429765-0992EE90-FDED-471F-A40A-CB113A25090A
UMLS CUI	C5675009
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 ID (MMS)	8C70.40
ICD-11 (foundation)	537908479
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q27429765
is subclass of of	autosomal dominant limb-girdle muscular dystrophy type 1 autosomal dominant limb-girdle muscular dystrophy type 1E autosomal dominant limb-girdle muscular dystrophy type 1F autosomal dominant limb-girdle muscular dystrophy type 1G autosomal dominant limb-girdle muscular dystrophy type 1C autosomal dominant limb-girdle muscular dystrophy type 1A autosomal dominant limb-girdle muscular dystrophy type 1H autosomal dominant limb-girdle muscular dystrophy type 1D autosomal dominant limb-girdle muscular dystrophy type 1B
is subclass of of	wds:Q61913578-A5E7AC12-77AC-4A9C-BD94-9167F8BC8A9B wds:Q1531326-a9383b17-4043-06d2-71dd-62cd1613e65f wds:Q1531328-F106464F-3D0C-486C-96B4-8022A6870518 wds:Q1531329-E5B31193-9115-48E4-824C-78FD58C60D8B wds:Q1531324-0C5EC898-AE0D-4239-81D1-A95F9C17EF9D wds:Q1531319-19b521ef-4389-ae96-1d88-f94cd252d226 wds:Q1531331-DAF4496D-922D-4F9C-A770-ABDB1EED4072 wds:Q1287941-b5bd2742-4fed-533a-f3c3-2e69365ab089 wds:Q1531320-517ee651-4ba6-e73f-9269-83c8b2a23b1f
is main subject of	A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7 A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Using neural networks as an aid in the determination of disease status: comparison of clinical diagnosis to neural-network predictions in a pedigree with autosomal dominant limb-girdle muscular dystrophy Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B). Adult-onset autosomal dominant limb-girdle muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. The enigma of 7q36 linked autosomal dominant limb girdle muscular dystrophy Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy. Medical genetics: advances in brief: Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Childhood-onset autosomal-dominant limb-girdle muscular dystrophy with cardiac conduction block
is main subject of	wds:Q44202615-39723517-B55D-4DE5-9EFB-E530EE445FAD wds:Q33680534-4B70AB47-B2A0-4F0E-BA5B-4A47E128CBB3 wds:Q73797280-C14B3144-1E11-4260-8A64-A3BE7C0BAD1D wds:Q42947705-1C506364-4DB5-48BC-9C95-AC7D096D71D3 wds:Q55880075-BCC6E6F1-7336-4722-A836-CD85D7BBC14B wds:Q78228896-12455EF1-3CCF-4389-B710-0A385BA2035F wds:Q30747234-92A00AF7-9AD4-4FE3-AADD-DB428C80CC6E

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