ZFIN Human Disease: Charcot-Marie-Tooth disease type 4B2

OBO ID: DOID:0110190

Term Name:	Charcot-Marie-Tooth disease type 4B2		Search Ontology:
Synonyms:	autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2 Charcot-Marie-Tooth neuropathy type 4B2 CMT4B2
Definition:	A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. https://www.ncbi.nlm.nih.gov/pubmed/12554688
References:	GARD:9200 ICD10CM:G60.0 MESH:C535421 OMIM:604563 ORDO:99956
Ontology:	Human Disease ( DOID:0110190 )

Relationships

is a type of:	autosomal recessive disease Charcot-Marie-Tooth disease type 4 autosomal recessive disease Charcot-Marie-Tooth disease type 4 Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SBF2	sbf2	Charcot-Marie-Tooth disease, type 4B2	604563

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None