Visualize Submit Comment

Metadata
ID	DOID:0070834
PURL	http://purl.obolibrary.org/obo/DOID_0070834 Copy Copied!
Name	Charcot-Marie-tooth disease type 1I
Definition	A Charcot-Marie-Tooth disease type 1 characterized by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs that has_material_basis_in heterozygous mutation in the POLR3B gene on chromosome 12q23. This disease is progressive. https://pubmed.ncbi.nlm.nih.gov/33417887/
Xrefs	MIM:619742 UMLS_CUI:C5676914
SKOS	exactMatch MIM:619742 exactMatch UMLS_CUI:C5676914
Subsets	DO_rare_slim
Synonyms	CMT1I [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a Charcot-Marie-Tooth disease type 1
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance