ZFIN Human Disease: Charcot-Marie-Tooth disease dominant intermediate B

OBO ID: DOID:0110197

Term Name:	Charcot-Marie-Tooth disease dominant intermediate B		Search Ontology:
Synonyms:	Charcot-Marie-Tooth neuropathy dominant intermediate B CMTDI1 CMTDIB DI-CMTB
Definition:	A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). https://www.ncbi.nlm.nih.gov/pubmed/15731758
References:	ICD10CM:G60.0 MESH:C564703 OMIM:606482 ORDO:100044
Ontology:	Human Disease ( DOID:0110197 )

Relationships

is a type of:	autosomal dominant disease Charcot-Marie-Tooth disease intermediate type autosomal dominant disease Charcot-Marie-Tooth disease intermediate type Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DNM2	dnm2b dnm2a	Charcot-Marie-Tooth disease, axonal type 2M	606482
		Charcot-Marie-Tooth disease, dominant intermediate B	606482

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None