Preferred Name | Periventricular nodular heterotopia 1 | |
Synonyms |
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Definitions |
(PVNH1): A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. |
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ID |
http://purl.obolibrary.org/obo/OMIM_300049 |
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definition |
(PVNH1): A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period. |
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has_obo_namespace |
cell_cycle_ontology |
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id |
OMIM:300049 |
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label |
Periventricular nodular heterotopia 1 |
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notation |
OMIM:300049 |
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prefLabel |
Periventricular nodular heterotopia 1 |
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treeView | ||
subClassOf |
Delete | Mapping To | Ontology | Source |
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http://purl.bioontology.org/ontology/OMIM/300049 | OMIM | LOOM | |
http://identifiers.org/omim/300049 | REXO | LOOM | |
http://identifiers.org/omim/300049 | GEXO | LOOM | |
http://identifiers.org/omim/300049 | RETO | LOOM |