Microhydranencephaly

Preferred Label : Microhydranencephaly;

Symbol : MHAC;

CISMeF acronym : MHAC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hydranencephaly and microcephaly;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of the A. Nidulans nude 1 gene (NDE1, 609449.0004);

Prefixed ID : #605013;

Details

Origin ID

605013;

UMLS CUI

C1857977;

Automatic exact mappings (from CISMeF team)
- NDE1-related microhydranencephaly [ORDO Disease]
- microhydranencephaly [HGNC gene]
Currated CISMeF NLP mapping
- Microhydranencephaly [MeSH concept]
- microhydranencephaly [MeSH Supplementary Concept]
- nudE neurodevelopment protein 1-related microhydranencephaly (disorder) [SNOMED CT concept]
Genes related to phenotype
- Nude neurodevelopment protein 1 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Athetosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hydranencephaly [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the brainstem [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Multiple joint contractures [HPO term]
- Pachygyria [HPO term]
- Profound global developmental delay [HPO term]
- Prominent nasal bridge [HPO term]
- Proptosis [HPO term]
- Self-mutilation [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sloping forehead [HPO term]
- Spastic tetraplegia [HPO term]
- Talipes equinovarus [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- NDE1-related microhydranencephaly [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microhydranencephaly [MeSH concept]
- microhydranencephaly [MeSH Supplementary Concept]
- nudE neurodevelopment protein 1-related microhydranencephaly (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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