loading...| Preferred Name | nodular neuronal heterotopia | |
| Synonyms |
hereditary nodular heterotopia nodular heterotopia Nodular Heterotopias genetic nodular heterotopia |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0016292 |
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| database_cross_reference |
GARD:0002661 Orphanet:2149 SCTID:253151003 ICD10:Q04.8 |
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| exactMatch | ||
| fromEpSO | ||
| fromPubMed |
true |
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| has exact synonym |
nodular heterotopia Nodular Heterotopias genetic nodular heterotopia |
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| hasDbXRef | ||
| hasDefinition |
Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males. |
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| id |
MONDO:0016292 |
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| imported from | ||
| in subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_morphological_anomaly |
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| label |
nodular neuronal heterotopia |
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| notation |
MONDO:0016292 |
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| oboInOwl:hasRelatedSynonym |
hereditary nodular heterotopia |
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| prefLabel |
nodular neuronal heterotopia |
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| see also | ||
| subClassOf |