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Summary Literature (0)
DOID:0110192 - Charcot-Marie-Tooth disease type 4H


Disease Ontology Definition:A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4).

Synonyms: CMT4H, Charcot-Marie-Tooth neuropathy type 4H, autosomal recessive Charcot-Marie-Tooth disease type 4H, autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H

In OMIM:
OMIM:609311 - CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

In Mondo Disease Ontology:
MONDO:0012250 - Charcot-Marie-Tooth disease type 4H

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : fgd4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Charcot-Marie-Tooth disease type 4 (is_a)