Developmental and epileptic encephalopathy 8

Preferred Label : Developmental and epileptic encephalopathy 8;

Symbol : DEE8;

CISMeF acronym : EIEE8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperekplexia and epilepsy; Epileptic encephalopathy, early infantile, 8; EIEE8;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Rho guanine nucleotide exchange factor 9 gene (ARHGEF9, 300429.0001);

Prefixed ID : #300607;

Details

Origin ID

300607;

UMLS CUI

C1845102;

Currated CISMeF NLP mapping
- Hyperekplexia epilepsy syndrome (disorder) [SNOMED CT concept]
- Hyperekplexia-epilepsy syndrome [ORDO Disease]
- developmental and epileptic encephalopathy 8 [DO Concept]
- hyperekplexia and epilepsy [MeSH Supplementary Concept]
- hyperekplexia and epilepsy [MeSH concept]
DO Cross reference
- developmental and epileptic encephalopathy 8 [DO Concept]
Genes related to phenotype
- Rho guanine nucleotide exchange factor 9 [OMIM gene]
HPO term(s)
- Congenital onset [HPO term]
- Epileptic encephalopathy [HPO term]
- Exaggerated startle response [HPO term]
- Hypertonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Seizure [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Hyperekplexia-epilepsy syndrome [ORDO Disease]
- X-linked intellectual disability-epilepsy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperekplexia-epilepsy syndrome [ORDO Disease]
- hyperekplexia and epilepsy [MeSH Supplementary Concept]
- hyperekplexia and epilepsy [MeSH concept]

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