Band heterotopia

Preferred Label : Band heterotopia;

Symbol : BH;

CISMeF acronym : BH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the echinoderm microtubule-associated protein-like 1 gene (EML1, 602033.0001);

Prefixed ID : #600348;

Détails

Origin ID

600348;

UMLS CUI

C4284594;

Automatic exact mappings (from CISMeF team)
- Hepatic function 1996 panel [LOINC component]
- Liver Function Test [NCIt concept]
- Subcortical band heterotopia [ORDO Disease]
- band heterotopia [Radlex concept]
- bleomycin hydrolase [HGNC gene]
- subcortical band heterotopia [DO Concept]
Currated CISMeF NLP mapping
- band heterotopia of brain [MeSH concept]
- band heterotopia of brain [MeSH Supplementary Concept]
DO Cross reference
- subcortical band heterotopia [DO Concept]
False automatic mappings
- Bahrain [NCIt concept]
- Hepatic function panel (procedure) [SNOMED CT concept]
Genes related to phenotype
- Echinoderm microtubule-associated protein-like 1 [OMIM gene]
HPO term(s)
- Abnormality of the skeletal system [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hydrocephalus [HPO term]
- Intellectual disability, severe [HPO term]
- Macrocephaly [HPO term]
- Polymicrogyria [HPO term]
- Seizure [HPO term]
- Sleep disturbance [HPO term]
- Spasticity [HPO term]
- Subcortical band heterotopia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Subcortical band heterotopia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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