Charcot-Marie-Tooth disease recessive intermediate B

Summary

DOID:0110204 - Charcot-Marie-Tooth disease recessive intermediate B

Disease Ontology Definition:A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23.

Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease type B, Charcot-Marie-Tooth neuropathy recessive intermediate B, CMTRIB, RI-CMTB

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: kars1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

MONDO:0013338 - Charcot-Marie-Tooth disease recessive intermediate B

MIM:

MIM:613641 - CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB

MIM:613641 - CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B; CMTRIB

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Charcot-Marie-Tooth disease intermediate type (is_a)