Charcot-Marie-Tooth disease axonal type 2K
Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q
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Summary
Charcot-Marie-Tooth disease axonal type 2K is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease axonal type 2K's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease axonal type 2K's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease axonal type 2K's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease axonal type 2K's OMIM ID is recorded as 607831[5].
- Charcot-Marie-Tooth disease axonal type 2K's Disease Ontology ID is recorded as DOID:0110167[6].
- Charcot-Marie-Tooth disease axonal type 2K's Orphanet ID is recorded as 101097[7].
- Charcot-Marie-Tooth disease axonal type 2K's NCI Thesaurus ID is recorded as C133886[8].
- Charcot-Marie-Tooth disease axonal type 2K's health specialty is recorded as neurology[9].
- Charcot-Marie-Tooth disease axonal type 2K's genetic association is recorded as GDAP1[10].
- Charcot-Marie-Tooth disease axonal type 2K's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110167[11].
- Charcot-Marie-Tooth disease axonal type 2K's exact match is recorded as http://identifiers.org/doid/DOID:0110167[12].
- Charcot-Marie-Tooth disease axonal type 2K's ICD-10-CM is recorded as G60.0[13].
- Charcot-Marie-Tooth disease axonal type 2K's GARD rare disease ID is recorded as 12448[14].
- Charcot-Marie-Tooth disease axonal type 2K's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Charcot-Marie-Tooth disease axonal type 2K's Mondo ID is recorded as MONDO_0011916[16].
- Charcot-Marie-Tooth disease axonal type 2K's UniProt disease ID is recorded as DI-00283[17].