Corpus callosum, partial agenesis of, X-linked

Preferred Label : Corpus callosum, partial agenesis of, X-linked;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Prefixed ID : #304100;

Details

Origin ID

304100;

UMLS CUI

C1839909;

Currated CISMeF NLP mapping
- X-linked complicated corpus callosum dysgenesis [ICD-11 More detail]
- X-linked complicated corpus callosum dysgenesis [ORDO Disease]
- X-linked complicated corpus callosum dysgenesis (disorder) [SNOMED CT concept]
- corpus callosum, partial agenesis of, X-Linked [MeSH concept]
- corpus callosum, partial agenesis of, X-Linked [MeSH Supplementary Concept]
False automatic mappings
- L1 syndrome [ORDO Disease]
Genes related to phenotype
- L1 cell adhesion molecule [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Aganglionic megacolon [HPO term]
- Cerebellar hypoplasia [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of inferior vermis and cerebellum [HPO term]
- Intellectual disability [HPO term]
- Interhemispheric cyst [HPO term]
- Microcephaly [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Unusual facies [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- L1 syndrome [ORDO Disease]
- X-linked complicated corpus callosum dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked complicated corpus callosum dysgenesis [ORDO Disease]
- X-linked complicated corpus callosum dysgenesis (disorder) [SNOMED CT concept]
- corpus callosum, partial agenesis of, X-Linked [MeSH Supplementary Concept]
- corpus callosum, partial agenesis of, X-Linked [MeSH concept]

Keyword's position in hierarchy(ies) :

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