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DOID:0110167 - Charcot-Marie-Tooth disease axonal type 2K
Disease Ontology 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.
Synonyms: ARCMT2K, Charcot-Marie-Tooth neuropathy axonal type 2K, autosomal recessive Charcot-Marie-Tooth disease with hoarseness, autosomal recessive axonal CMT4C4, autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K, autosomal recessive axonal Charcot-Marie-Tooth disease type 2K,
Xenbase Genes
:
jph1,
gdap1
| MONDO:0011916 - Charcot-Marie-Tooth disease axonal type 2K |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Charcot-Marie-Tooth disease type 2 (is_a),
autosomal dominant disease (is_a),
autosomal recessive disease (is_a)