About: Charcot-Marie-Tooth disease type 2

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

Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell

Attributes	Values
rdf:type	Item
description	Krankheit (de) malattia (it) хвороба (uk) Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell (en)
exact match	wds:Q3281254-10535C02-5725-48E8-A1AB-FD814FFBE9CF wds:Q3281254-3E2D36D3-A463-42D6-8F17-67B32737CC3C wds:Q3281254-9A1F856E-6501-4AD0-97FC-07470CCB5AD2
exact match	http://purl.obolibrary.org/obo/DOID_0050539 http://identifiers.org/doid/DOID:0050539 http://www.orpha.net/ORDO/Orphanet_64746
health specialty	wds:Q3281254-20F90358-ADC9-433D-9BFF-AC841D788353
Disease Ontology ID	wds:Q3281254-F6B39F0F-47D7-42C1-AED8-371F37A8DD59
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0050539
health specialty	neurology
Disease Ontology ID	DOID:0050539
rdfs:label	Charcot-Marie-Tooth disease type 2 (en) Charcot-Marie-Toothova bolezen tipa 2 (sl) maladie de Charcot-Marie-Tooth type 2 (fr)
skos:prefLabel	Charcot-Marie-Tooth disease type 2 (en) Charcot-Marie-Toothova bolezen tipa 2 (sl) maladie de Charcot-Marie-Tooth type 2 (fr)
name	Charcot-Marie-Tooth disease type 2 (en) Charcot-Marie-Toothova bolezen tipa 2 (sl) maladie de Charcot-Marie-Tooth type 2 (fr)
instance of	wds:Q3281254-62D4A3C5-301A-4150-AADD-AF7D94CB4B4D wds:Q3281254-E10CA5F8-AF3C-441D-850D-B778D96981F4
instance of	class of disease rare disease
subclass of	wds:Q3281254-5db9d978-4804-3e84-49ad-7a38cc52038a
subclass of	Charcot–Marie–Tooth disease
Orphanet ID	wds:Q3281254-f632ba10-4202-2e98-68ef-15ca0b5341d7
ICD-9-CM	wds:Q3281254-3C61FFF4-A557-461A-A2DE-F12A755C6D76
genetic association	wds:Q3281254-23F711A4-1890-4828-995D-095A2596FBA9
GARD rare disease ID	wds:Q3281254-DB0D0E3A-5F66-4BC5-B39B-E9E2165C5F79
OMIM ID	wds:Q3281254-85B0E496-3FDA-4F98-A23F-6F019090C9C5 wds:Q3281254-E2EC290D-D7CB-4AF9-B751-872F37641A3F
Orphanet ID	64746
ICD-9-CM	356.0
genetic association	TFG
GARD rare disease ID	12431
OMIM ID	118230 604484
skos:altLabel	Maladie De Charcot-Marie-Tooth Type 2 (fr) Maladie de charcot-marie-tooth type 2 (fr) hereditary motor and sensory neuropathy type 2 (en) hereditary motor and sensory neuropathy Okinawa type (en) hereditary motor and sensory neuropathy Guadalajara neuronal type (en)
UMLS CUI	wds:Q3281254-1CE66C5C-C7F2-4152-A651-1743FC6B0C53 wds:Q3281254-B3B4A802-BF5C-4761-8A9D-60C2EAE0F75B
on focus list of Wikimedia project	wds:Q3281254-F2A463F3-5185-42AC-962A-C4C5C630FB43
ICD-11 ID (MMS)	wds:Q3281254-c42c4274-0f8b-41c2-b6d1-1013a46657a7
ICD-11 (foundation)	wds:Q3281254-9744ECFD-1C7B-4727-8847-CBF092622E76
UMLS CUI	C0392553 C5548211
on focus list of Wikimedia project	WikiProject Medicine
ICD-11 ID (MMS)	8C20.1
ICD-11 (foundation)	403896648
is owl:sameAs of	Charcot-Marie-Tooth disease type 2
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q3281254 https://fr.wikipedia.org/wiki/Maladie_de_Charcot-Marie-Tooth_type_2
is subclass of of	giant axonal neuropathy 2 Charcot-Marie-Tooth disease axonal type 2N Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease type 2Y Charcot-Marie-Tooth disease axonal type 2S Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease axonal type 2CC Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth disease axonal type 2T Charcot-Marie-Tooth disease type 2DD Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease axonal type 2V Charcot-Marie-Tooth disease, axonal type 2W Charcot-Marie-Tooth disease axonal type 2X Charcot-Marie-Tooth disease axonal type 2Q Charcot-Marie-Tooth disease axonal type 20 Charcot-Marie-Tooth disease axonal type 2H Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth disease type 2EE Charcot-Marie-Tooth disease type 2R Charcot-Marie-Tooth disease axonal type 2C Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth disease axonal type 2F Charcot-Marie-Tooth disease axonal type 2P Charcot-Marie-Tooth disease axonal type 2G Charcot-Marie-Tooth disease type 2A2B Charcot-Marie-Tooth disease axonal type 2Z
is subclass of of	wds:Q27164475-1F4F0190-BE12-4888-A100-E650007C1157 wds:Q27164476-72932398-22CD-4744-B40A-824497445BFC wds:Q27164480-65DC5087-3BE7-443E-937C-C8B821BBB9AD wds:Q27164462-A1859081-C34D-4C02-890A-3B7A040166A1 wds:Q27164466-58207EDE-BD6D-4332-A836-DD9F4BC1751F wds:Q102296284-57E2EDA4-1589-4C7C-B8FC-E783A54AD274

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