Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2)
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Charcot-Marie-Tooth disease type 4B1
Summary
Charcot-Marie-Tooth disease type 4B1 is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 4B1's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 4B1's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 4B1's subclass of is recorded as Charcot-Marie-Tooth disease type 4[4].
- Charcot-Marie-Tooth disease type 4B1's subclass of is recorded as autosomal recessive disease[5].
- Charcot-Marie-Tooth disease type 4B1's MeSH descriptor ID is recorded as C535420[6].
- Charcot-Marie-Tooth disease type 4B1's OMIM ID is recorded as 601382[7].
- Charcot-Marie-Tooth disease type 4B1's Disease Ontology ID is recorded as DOID:0110191[8].
- Charcot-Marie-Tooth disease type 4B1's Orphanet ID is recorded as 99955[9].
- Charcot-Marie-Tooth disease type 4B1's health specialty is recorded as neurology[10].
- Charcot-Marie-Tooth disease type 4B1's genetic association is recorded as MTMR2[11].
- Charcot-Marie-Tooth disease type 4B1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110191[12].
- Charcot-Marie-Tooth disease type 4B1's exact match is recorded as http://identifiers.org/doid/DOID:0110191[13].
- Charcot-Marie-Tooth disease type 4B1's UMLS CUI is recorded as C1832399[14].
- Charcot-Marie-Tooth disease type 4B1's ICD-10-CM is recorded as G60.0[15].
- Charcot-Marie-Tooth disease type 4B1's GARD rare disease ID is recorded as 1253[16].
- Charcot-Marie-Tooth disease type 4B1's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- Charcot-Marie-Tooth disease type 4B1's Mondo ID is recorded as MONDO_0011066[18].
- Charcot-Marie-Tooth disease type 4B1's UniProt disease ID is recorded as DI-00286[19].