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

OBO ID: DOID:0111560

Term Name:	Charcot-Marie-Tooth disease type 1G		Search Ontology:
Synonyms:	CMT1G PMP2-related Charcot-Marie-Tooth disease type 1 PMP2-related Charcot-Marie-Tooth neuropathy type 1 PMP2-related CMT1 PMP2-related hereditary motor and sensory neuropathy type 1
Definition:	A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. (2)
References:	OMIM:618279 ORDO:476394
Ontology:	Human Disease ( DOID:0111560 )

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PMP2		Charcot-Marie-Tooth disease, demyelinating, type 1G

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None