ZFIN Human Disease: Charcot-Marie-Tooth disease axonal type 2K

OBO ID: DOID:0110167

Term Name:	Charcot-Marie-Tooth disease axonal type 2K		Search Ontology:
Synonyms:	ARCMT2K autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K autosomal recessive axonal Charcot-Marie-Tooth disease type 2K autosomal recessive axonal CMT4C4 autosomal recessive Charcot-Marie-Tooth disease with hoarseness Charcot-Marie-Tooth neuropathy axonal type 2K
Definition:	A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. https://www.ncbi.nlm.nih.gov/pubmed/12707075
References:	ICD10CM:G60.0 OMIM:607831 ORDO:101097
Ontology:	Human Disease ( DOID:0110167 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 2 autosomal dominant disease autosomal recessive disease Charcot-Marie-Tooth disease type 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GDAP1	gdap1	Charcot-Marie-Tooth disease, axonal, type 2K	607831
JPH1	jph1b jph1a	?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K	607831

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None