loading...| Preferred Name |
periventricular nodular heterotopia |
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| Synonyms |
periventricular heterotopia periventricular nodular heterotopia |
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| Definitions |
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 |
http://purl.obolibrary.org/obo/MONDO_0020341 |
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| closeMatch | ||
| database_cross_reference |
MESH:D054091 GARD:12724 UMLS:C1868720 Orphanet:98892 DOID:0050454 OMIMPS:300049 MedDRA:10066854 |
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| definition |
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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| exactMatch |
http://purl.obolibrary.org/obo/DOID_0050454 https://omim.org/phenotypicSeries/PS300049 http://linkedlifedata.com/resource/umls/id/C1868720 |
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| has_exact_synonym |
periventricular heterotopia periventricular nodular heterotopia |
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| id |
MONDO:0020341 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
periventricular nodular heterotopia |
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| notation |
MONDO:0020341 |
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| prefLabel |
periventricular nodular heterotopia |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016292 |