Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS
Synonyms	DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS
ID	http://purl.bioontology.org/ontology/OMIM/214370
altLabel	DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS
cui	C1861669
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	214370
OMIM Entry Type	5
OMIM MimType Value	perc
prefLabel	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ABSENT SENSORY LARGE MYELINATED FIBERS
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C538078	MESH	CUI