Human Phenotype Ontology 
..Starting node
..expandPeriventricular nodular heterotopia (HP:0032388)help
Term ID: 32388
Name: Periventricular nodular heterotopia
Synonym:
Definition: Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.
Comments:
Reference: HP:0032388
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032388HP:0032388Periventricular nodular heterotopia0ADGRL1 CL E G H2285920973OMIM:620065
HP:0032388HP:0032388Periventricular nodular heterotopia0ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8.
HP:0032388HP:0032388Periventricular nodular heterotopia0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0032388HP:0032388Periventricular nodular heterotopia0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0032388HP:0032388Periventricular nodular heterotopia0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0032388HP:0032388Periventricular nodular heterotopia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0032388HP:0032388Periventricular nodular heterotopia0ERMARD CL E G H5578021056OMIM:615544Periventricular nodular heterotopia 6.36
HP:0032388HP:0032388Periventricular nodular heterotopia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0032388HP:0032388Periventricular nodular heterotopia0FLNA CL E G H23163754ORPHA:555877FLNA-related X-linked myxomatous valvular dysplasia493
HP:0032388HP:0032388Periventricular nodular heterotopia0INTS8 CL E G H5565626048OMIM:618572NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS2
HP:0032388HP:0032388Periventricular nodular heterotopia0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0032388HP:0032388Periventricular nodular heterotopia0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7.30
HP:0032388HP:0032388Periventricular nodular heterotopia0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0032388HP:0032388Periventricular nodular heterotopia0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional271
HP:0032388HP:0032388Periventricular nodular heterotopia0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0032388HP:0032388Periventricular nodular heterotopia0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0032388HP:0032388Periventricular nodular heterotopia0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0032388HP:0032388Periventricular nodular heterotopia0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosis.5


Genes (18) :ADGRL1 ARF1 ARFGEF2 CPLANE1 CPLX1 DCHS1 ERMARD FAT4 FLNA INTS8 MAP1B NEDD4L PRORP TBC1D24 VPS35L ZMIZ1 ZNF292 ZSWIM6

Diseases (17) :OMIM:620065 OMIM:618185 OMIM:608097 OMIM:277170 ORPHA:352582 OMIM:601390 OMIM:615544 OMIM:615546 ORPHA:555877 OMIM:618572 OMIM:618918 OMIM:617201 OMIM:619737 OMIM:619135 OMIM:618659 OMIM:619188 OMIM:603671
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.