Neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers

Preferred Label : Neuropathy, hereditary motor and sensory, with deafness, impaired intellectual development, and absent sensory large myelinated fibers;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : 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;

Inheritance : Autosomal recessive;

Prefixed ID : %214370;

Details

Origin ID

214370;

UMLS CUI

C1861669;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease and deafness [MeSH concept]
- Charcot-Marie-Tooth disease and deafness [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease type 1E [DO Concept]
- Charcot-Marie-Tooth disease type 1E [ORDO Disease]
- Charcot-Marie-Tooth disease type IE (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome [ORDO Disease]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Intellectual disability [HPO term]
- Peripheral neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Charcot-Marie-Tooth disease and deafness [MeSH Supplementary Concept]
- Charcot-Marie-Tooth disease and deafness [MeSH concept]

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