Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22
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Charcot-Marie-Tooth disease type 2B1
Summary
Charcot-Marie-Tooth disease type 2B1 is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 2B1's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 2B1's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 2B1's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease type 2B1's subclass of is recorded as autosomal recessive axonal hereditary motor and sensory neuropathy[5].
- Charcot-Marie-Tooth disease type 2B1's subclass of is recorded as autosomal recessive disease[6].
- Charcot-Marie-Tooth disease type 2B1's MeSH descriptor ID is recorded as C537990[7].
- Charcot-Marie-Tooth disease type 2B1's OMIM ID is recorded as 605588[8].
- Charcot-Marie-Tooth disease type 2B1's Disease Ontology ID is recorded as DOID:0110156[9].
- Charcot-Marie-Tooth disease type 2B1's Orphanet ID is recorded as 98856[10].
- Charcot-Marie-Tooth disease type 2B1's health specialty is recorded as neurology[11].
- Charcot-Marie-Tooth disease type 2B1's genetic association is recorded as LMNA[12].
- Charcot-Marie-Tooth disease type 2B1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110156[13].
- Charcot-Marie-Tooth disease type 2B1's exact match is recorded as http://identifiers.org/doid/DOID:0110156[14].
- Charcot-Marie-Tooth disease type 2B1's UMLS CUI is recorded as C1854154[15].
- Charcot-Marie-Tooth disease type 2B1's ICD-10-CM is recorded as G60.0[16].
- Charcot-Marie-Tooth disease type 2B1's GARD rare disease ID is recorded as 8548[17].
- Charcot-Marie-Tooth disease type 2B1's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- Charcot-Marie-Tooth disease type 2B1's Mondo ID is recorded as MONDO_0011569[19].
- Charcot-Marie-Tooth disease type 2B1's UniProt disease ID is recorded as DI-00277[20].