Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects

Preferred Label : Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects;

NCIt synonyms : Mental Retardation, Autosomal Dominant 19; MRD19; NEDSDV;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CTNNB1 gene, encoding catenin beta-1. It is characterized by severe intellectual disability, progressive spastic diplegia, visual impairment, and dysmorphic craniofacial features.;

NCI Metathesaurus CUI : CL984211;

Details

Origin ID

C176897;

UMLS CUI

C3554449;

Automatic exact mappings (from CISMeF team)
- autosomal dominant non-syndromic intellectual disability 19 [DO Concept]
Currated CISMeF NLP mapping
- Neurodevelopmental disorder with spastic diplegia and visual defects [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurodevelopmental disorder with spastic diplegia and visual defects [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CTNNB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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