OBO ID: DOID:0110201
Term Name: Charcot-Marie-Tooth disease recessive intermediate A Search Ontology:
Synonyms:
  • autosomal recessive intermediate Charcot-Marie-Tooth disease type A
  • Charcot-Marie-Tooth neuropathy recessive intermediate A
  • CMTRIA
  • RI-CMTA
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/12499475
References:
Ontology: Human Disease   (DOID:0110201)
OTHER Charcot-Marie-Tooth disease recessive intermediate A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GDAP1 Charcot-Marie-Tooth disease, recessive intermediate, A 608340
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None