OBO ID: DOID:0080294
Term Name: Charcot-Marie-Tooth disease dominant intermediate G Search Ontology:
Synonyms:
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. https://pubmed.ncbi.nlm.nih.gov/28364294/
References:
Ontology: Human Disease   ( DOID:0080294 )
OTHER Charcot-Marie-Tooth disease dominant intermediate G PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NEFL Charcot-Marie-Tooth disease, dominant intermediate G 617882
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None