Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay

Preferred Label : Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay;

Symbol : CHEGDD;

CISMeF acronym : CHEGDD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the oxidation resistance 1 gene (OXR1, 605609.0001);

Prefixed ID : #213000;

Details

Origin ID

213000;

UMLS CUI

C5231391;

Automatic exact mappings (from CISMeF team)
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Cerebellar hypoplasia [HPO term]
- Cerebellar hypoplasia [MedDRA Preferred Term]
- Congenital cerebellar hypoplasia (disorder) [SNOMED CT concept]
- HYPOPLASIA CEREBELLAR [WHO-ART Preferred Term]
- Hypoplasia cerebellar [MedDRA LLT]
- Isolated cerebellar agenesis [ORDO Disease]
- cerebellar hypoplasia [MeSH concept]
- cerebellar hypoplasia [MeSH Supplementary Concept]
- congenital cerebellar hypoplasia [SNOMED Notion]
DO Cross reference
- cerebellar hyplasia/atrophy, epilepsy, and global developmental delay [DO Concept]
Genes related to phenotype
- Oxidation resistance 1 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Generalized hypotonia [HPO term]
- Hypotonia [HPO term]
- Nystagmus [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebellar hypoplasia [MedDRA Preferred Term]
- Cerebellar hypoplasia [HPO term]
- Congenital Cerebellar Hypoplasia [NCIt concept]
- Congenital cerebellar hypoplasia (disorder) [SNOMED CT concept]
- HYPOPLASIA CEREBELLAR [WHO-ART Preferred Term]
- Hypoplasia cerebellar [MedDRA LLT]
- Isolated cerebellar agenesis [ORDO Disease]
- cerebellar hypoplasia [MeSH Supplementary Concept]
- cerebellar hypoplasia [MeSH concept]
- congenital cerebellar hypoplasia [SNOMED Notion]
Validated automatic mappings to BTNT
- Congenital Cerebellar Hypoplasia [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients