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Metadata
ID DOID:0061251
PURL http://purl.obolibrary.org/obo/DOID_0061251 Copy
Name Charcot-Marie-Tooth disease type 2KK
Definition A Charcot-Marie-Tooth disease type 2 characterized by motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia that has_material_basis_in homozygous mutation in the ARHGAP19 gene on chromosome 10q24.
https://pubmed.ncbi.nlm.nih.gov/41086021/
Xrefs

MIM:621466

Parent Relationships

is_a Charcot-Marie-Tooth disease type 2

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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