Limb defects, distal transverse, with impaired intellectual development and spasticity

Preferred Label : Limb defects, distal transverse, with impaired intellectual development and spasticity;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Limb defects, distal transverse, with mental retardation and spasticity;

Inheritance : Autosomal recessive;

Prefixed ID : 246555;

Details

Origin ID

246555;

UMLS CUI

C1855501;

Automatic exact mappings (from CISMeF team)
- Intellectual disability-spasticity-ectrodactyly syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- limb defects, distal transverse, with mental retardation and spasticity [MeSH concept]
- limb defects, distal transverse, with mental retardation and spasticity [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [HPO term]
- Spastic paraplegia [HPO term]
- Split hand [HPO term]
ORDO concept(s)
- Intellectual disability-spasticity-ectrodactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- limb defects, distal transverse, with mental retardation and spasticity [MeSH Supplementary Concept]
- limb defects, distal transverse, with mental retardation and spasticity [MeSH concept]

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