ZFIN Human Disease: Charcot-Marie-Tooth disease type 1A

OBO ID: DOID:0110148

Term Name:	Charcot-Marie-Tooth disease type 1A		Search Ontology:
Synonyms:	autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A Charcot-Marie-Tooth neuropathy type 1A CMT1A hereditary motor and sensory neuropathy 1A HMSN1A microduplication 17p12
Definition:	A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (2)
References:	GARD:1245 ICD10CM:G60.0 OMIM:118220 ORDO:101081
Ontology:	Human Disease ( DOID:0110148 )

Relationships

is a type of:	autosomal dominant disease Charcot-Marie-Tooth disease type 1 autosomal dominant disease Charcot-Marie-Tooth disease type 1 Show first 5 Terms

OTHER Charcot-Marie-Tooth disease type 1A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PMP22	pmp22a pmp22b	Charcot-Marie-Tooth disease, type 1A	118220

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None