OBO ID: DOID:0110192
Term Name: Charcot-Marie-Tooth disease type 4H Search Ontology:
Synonyms:
  • autosomal recessive Charcot-Marie-Tooth disease type 4H
  • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
  • Charcot-Marie-Tooth neuropathy type 4H
  • CMT4H
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). (2)
References:
Ontology: Human Disease   (DOID:0110192)
OTHER Charcot-Marie-Tooth disease type 4H PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGD4 Charcot-Marie-Tooth disease, type 4H 609311
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None