periventricular nodular heterotopia

Summary
Synonym
  • periventricular heterotopia
Definition
A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
Super Class
congenital nervous system abnormality
Disease Ontology
DOID:0050454
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2316 FLNA filamin A
4131 MAP1B microtubule associated protein 1B
10564 ARFGEF2 ARF guanine nucleotide exchange factor 2
23327 NEDD4L NEDD4 like E3 ubiquitin protein ligase
Displaying 1 entry
Gene ID Gene Symbol Description Source
17755 Map1b microtubule-associated protein 1B
Displaying 1 entry
Gene ID Gene Symbol Description Source
5740544 futsch futsch
Displaying 1 entry
Gene ID Gene Symbol Description Source
856862 RSP5 NEDD4 family E3 ubiquitin-protein ligase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 16 in total
HPO ID HPO Term
HP:0002021 Pyloric stenosis
HP:0100790 Hernia
HP:0001654 Abnormal heart valve morphology
HP:0004942 Aortic aneurysm
HP:0001382 Joint hypermobility
HP:0002999 Patellar dislocation
HP:0007359 Focal-onset seizure
HP:0001892 Abnormal bleeding
HP:0000963 Thin skin
HP:0002650 Scoliosis
Displaying 1 entry
Gene ID Gene Symbol Description
160418 TMTC3 transmembrane O-mannosyltransferase targeting cadherins 3

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024