heterotopia, periventricular, autosomal recessive

Preferred Label : heterotopia, periventricular, autosomal recessive;

MeSH note : mutation in ARFGEF2;

MeSH synonym : periventricular nodular heterotopia 2; periventricular heterotopia with microcephaly, autosomal recessive;

Details

Origin ID

C564292;

UMLS CUI

C1842563;

Currated CISMeF NLP mapping
- Periventricular heterotopia with microcephaly, autosomal recessive [OMIM Phenotype]
- periventricular nodular heterotopia 2 [Disease (Nov.)]
MeSH term(s) associated for indexing
- periventricular nodular heterotopia [MeSH Descriptor]
Record concept(s)
- heterotopia, periventricular, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Periventricular heterotopia with microcephaly, autosomal recessive [OMIM Phenotype]
- periventricular nodular heterotopia 2 [Disease (Nov.)]

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