Impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis

Preferred Label : Impaired intellectual development with spastic paraplegia and palmoplantar hyperkeratosis;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis;

Inheritance : X-linked recessive;

Prefixed ID : %309560;

Détails

Origin ID

309560;

UMLS CUI

C2745996;

Currated CISMeF NLP mapping
- Fitzsimmons-McLachlan-Gilbert syndrome [MeSH concept]
- Fitzsimmons-McLachlan-Gilbert syndrome [MeSH Supplementary Concept]
- Paraplegia-intellectual disability-hyperkeratosis syndrome [ORDO Disease]
HPO term(s)
- Brisk reflexes [HPO term]
- High palate [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Pes cavus [HPO term]
- Spastic paraplegia [HPO term]
- Tremor [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Paraplegia-intellectual disability-hyperkeratosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fitzsimmons-McLachlan-Gilbert syndrome [MeSH Supplementary Concept]
- Fitzsimmons-McLachlan-Gilbert syndrome [MeSH concept]
- Paraplegia-intellectual disability-hyperkeratosis syndrome [ORDO Disease]
- Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) [SNOMED CT concept]

Position du mot-clé dans l'(les) arborescence(s) :

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