loading...| Preferred Name |
periventricular nodular heterotopia |
| Synonyms |
periventricular heterotopia periventricular nodular heterotopia |
| 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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0020341 |
| closeMatch | |
| database_cross_reference |
UMLS:C1868720 MedDRA:10066854 MESH:D054091 GARD:0012724 DOID:0050454 Orphanet:98892 OMIMPS:300049 |
| 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. |
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_98892 http://purl.obolibrary.org/obo/DOID_0050454 http://linkedlifedata.com/resource/umls/id/C1868720 |
| has_exact_synonym |
periventricular heterotopia periventricular nodular heterotopia |
| id |
MONDO:0020341 |
| in_subset | |
| label |
periventricular nodular heterotopia |
| notation |
MONDO:0020341 |
| prefLabel |
periventricular nodular heterotopia |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0016292 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016292 |