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Metadata
ID	DOID:0070833
PURL	http://purl.obolibrary.org/obo/DOID_0070833 Copy Copied!
Name	Charcot-Marie-tooth disease type 1H
Definition	A Charcot-Marie-Tooth disease type 1 characterized by foot deformities, upper or lower limb sensory disturbances, and motor deficits (mainly impaired gait) that has_material_basis_in heterozygous mutation in the FBLN5 gene, encoding fibulin-5, on chromosome 14q32. The disorder is slowly progressive and becomes more apparent with age. https://pubmed.ncbi.nlm.nih.gov/32757322/, https://pubmed.ncbi.nlm.nih.gov/21576112/
Xrefs	MIM:619764 UMLS_CUI:C5676926
SKOS	exactMatch MIM:619764 exactMatch UMLS_CUI:C5676926
Subsets	DO_rare_slim
Synonyms	CMT1H [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