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

OBO ID: DOID:0110203

Term Name:	Charcot-Marie-Tooth disease recessive intermediate D		Search Ontology:
Synonyms:	autosomal recessive intermediate Charcot-Marie-Tooth disease type D CMTRID RI-CMT type D
Definition:	A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/25152455
References:	ICD10CM:G60.0 OMIM:616039 ORDO:435998
Ontology:	Human Disease ( DOID:0110203 )

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COX6A1	cox6a1	Charcot-Marie-Tooth disease, recessive intermediate D	616039

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None