OBO ID: DOID:0110170
Term Name: Charcot-Marie-Tooth disease axonal type 2Q Search Ontology:
Synonyms:
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
  • autosomal dominant Charcot-Marie-Tooth disease type 2Q
  • Charcot-Marie-Tooth neuropathy type 2Q
  • CMT2Q
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. https://www.ncbi.nlm.nih.gov/pubmed/23141294
References:
Ontology: Human Disease   ( DOID:0110170 )
Relationships
is a type of:
OTHER Charcot-Marie-Tooth disease axonal type 2Q PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DHTKD1 ?Charcot-Marie-Tooth disease, axonal, type 2Q 615025
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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