Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q
Press Enter · cited answer in seconds
0 sources
Charcot-Marie-Tooth disease type 2R
Summary
Charcot-Marie-Tooth disease type 2R is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 2R's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 2R's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 2R's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease type 2R's subclass of is recorded as autosomal recessive axonal hereditary motor and sensory neuropathy[5].
- Charcot-Marie-Tooth disease type 2R's subclass of is recorded as autosomal recessive disease[6].
- Charcot-Marie-Tooth disease type 2R's OMIM ID is recorded as 615490[7].
- Charcot-Marie-Tooth disease type 2R's Disease Ontology ID is recorded as DOID:0110161[8].
- Charcot-Marie-Tooth disease type 2R's Orphanet ID is recorded as 397968[9].
- Charcot-Marie-Tooth disease type 2R's health specialty is recorded as neurology[10].
- Charcot-Marie-Tooth disease type 2R's genetic association is recorded as TRIM2[11].
- Charcot-Marie-Tooth disease type 2R's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110161[12].
- Charcot-Marie-Tooth disease type 2R's exact match is recorded as http://identifiers.org/doid/DOID:0110161[13].
- Charcot-Marie-Tooth disease type 2R's UMLS CUI is recorded as C3809655[14].
- Charcot-Marie-Tooth disease type 2R's ICD-10-CM is recorded as G60.0[15].
- Charcot-Marie-Tooth disease type 2R's GARD rare disease ID is recorded as 12451[16].
- Charcot-Marie-Tooth disease type 2R's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- Charcot-Marie-Tooth disease type 2R's Mondo ID is recorded as MONDO_0014208[18].
- Charcot-Marie-Tooth disease type 2R's UniProt disease ID is recorded as DI-03924[19].