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

OBO ID: DOID:0110205

Term Name:	Charcot-Marie-Tooth disease dominant intermediate E		Search Ontology:
Synonyms:	autosomal dominant intermediate Charcot-Marie-Tooth disease type E Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis CMTDIE
Definition:	A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. https://www.ncbi.nlm.nih.gov/pubmed/22187985
References:	ICD10CM:G60.0 OMIM:614455 ORDO:93114
Ontology:	Human Disease ( DOID:0110205 )

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
INF2	inf2	Charcot-Marie-Tooth disease, dominant intermediate E	614455

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None