Intellectual Developmental Disorder with Cardiac Arrhythmia

Preferred Label : Intellectual Developmental Disorder with Cardiac Arrhythmia;

NCIt synonyms : IDDCA;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the GNB5 gene, encoding guanine nucleotide-binding protein subunit beta-5. It is characterized by severe intellectual disability, poor speech acquisition, and cardiac arrhythmia. Biallelic missense mutation in the GNB5 gene can cause language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, which is a less-severe disorder with overlapping features.;

NCI Metathesaurus CUI : CL602190;

Details

Origin ID

C164154;

UMLS CUI

C5568877;

Automatic exact mappings (from CISMeF team)
- intellectual developmental disorder with cardiac arrhythmia [DO Concept]
Currated CISMeF NLP mapping
- G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) [SNOMED CT concept]
- Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- G protein subunit beta 5-related intellectual disability, cardiac arrhythmia syndrome (disorder) [SNOMED CT concept]
- Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GNB5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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