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periventricular nodular heterotopia

Go to external page http://purl.obolibrary.org/obo/MONDO_0020341

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. [ Orphanet:98892 ]

Synonyms: periventricular heterotopia periventricular nodular heterotopia

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:12724 (Orphanet:98892)
  • OMIMPS:300049 (MONDO:equivalentTo)
  • Orphanet:98892 (MONDO:equivalentTo)
  • MESH:D054091 (Orphanet:98892/e)
  • DOID:0050454 (MONDO:equivalentTo)
  • MedDRA:10066854 (Orphanet:98892/e)
  • UMLS:C1868720 (Orphanet:98892/e)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/meddra/10066854

exactMatch

http://identifiers.org/mesh/D054091

https://omim.org/phenotypicSeries/PS300049

http://purl.obolibrary.org/obo/DOID_0050454

http://linkedlifedata.com/resource/umls/id/C1868720

http://www.orpha.net/ORDO/Orphanet_98892

id

MONDO:0020341

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0020341