Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy

Preferred Label : Keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Axonal neuropathy with palmoplantar keratoderma; Charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy;

Inheritance : Autosomal dominant; heterogeneous;

Prefixed ID : 148360;

Details

Origin ID

148360;

UMLS CUI

C1835671;

Currated CISMeF NLP mapping
- Keratoderma palmoplantar spastic paralysis [MeSH concept]
- Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) [SNOMED CT concept]
- Palmoplantar keratoderma, spastic paralysis syndrome (disorder) [SNOMED CT concept]
- Palmoplantar keratoderma-spastic paralysis syndrome [ORDO Disease]
- Powell Venencie Gordon syndrome [MeSH concept]
- keratoderma palmoplantar spastic paralysis [MeSH Supplementary Concept]
- powell venencie gordon syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Electrophysiologic evidence of axonal neuropathy [HPO term]
- Heterogeneous [HPO term]
- Motor and sensory neuropathy [HPO term]
- Motor axonal neuropathy [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar keratoderma [HPO term]
- Pes cavus [HPO term]
- Sensory axonal neuropathy [HPO term]
ORDO concept(s)
- Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome [ORDO Disease]
- Palmoplantar keratoderma-spastic paralysis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Keratoderma palmoplantar spastic paralysis [MeSH concept]
- Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) [SNOMED CT concept]
- keratoderma palmoplantar spastic paralysis [MeSH Supplementary Concept]

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