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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
anencephaly +   
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
holoprosencephaly +   
lissencephaly +   
microcephaly +   
periventricular nodular heterotopia +   
A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO)
tubulinopathy  

Synonyms
Exact Synonyms: BPNH ;   Familial Nodular Heterotopia ;   Heterotopia, Periventricular, X-Linked Dominant ;   NHBP ;   PVNH1 ;   Periventricular Heterotopia ;   Periventricular Heterotopias ;   Periventricular Nodular Heterotopia 1 ;   Periventricular Nodular Heterotopias ;   X-linked periventricular heterotopia ;   X-linked periventricular heterotopias ;   bilateral periventricular nodular heterotopia ;   familial nodular heterotopias
Narrow Synonyms: HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA ;   HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA
Primary IDs: MESH:D054091
Alternate IDs: OMIM:300049
Xrefs: NCI:C202072 ;   OMIM:PS300049 ;   ORDO:98892
Definition Sources: http://ghr.nlm.nih.gov/condition/periventricular-heterotopia "DO" "DO"

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