ZFIN Human Disease: Charcot-Marie-Tooth disease recessive intermediate A

OBO ID: DOID:0110201

Term Name:	Charcot-Marie-Tooth disease recessive intermediate A		Search Ontology:
Synonyms:	autosomal recessive intermediate Charcot-Marie-Tooth disease type A Charcot-Marie-Tooth neuropathy recessive intermediate A CMTRIA RI-CMTA
Definition:	A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/12499475
References:	MESH:C564256 OMIM:608340 ORDO:217055
Ontology:	Human Disease ( DOID:0110201 )

Relationships

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

OTHER Charcot-Marie-Tooth disease recessive intermediate A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
GDAP1	gdap1	Charcot-Marie-Tooth disease, recessive intermediate, A	608340

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None