periventricular nodular heterotopia

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Information
Disease name
periventricular nodular heterotopia
Disease ID
DOID:0050454
Description
"A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain." [url:http\://ghr.nlm.nih.gov/condition/periventricular-heterotopia]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
NEDD4L 18 58,044,226 58,401,539 4
FLNA X 154,348,531 154,374,634 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT05696912 Recruiting N/A Functional Tests to Resolve Unsolved Rare Diseases. Rares. January 30, 2023 February 2025
Disase is a (Disease Ontology)
DOID:2490
Cross Reference ID (Disease Ontology)
MESH:D054091
Cross Reference ID (Disease Ontology)
MIM:300049
Cross Reference ID (Disease Ontology)
MIM:608097
Cross Reference ID (Disease Ontology)
MIM:608098
Cross Reference ID (Disease Ontology)
MIM:612881
Cross Reference ID (Disease Ontology)
MIM:615544
Cross Reference ID (Disease Ontology)
ORDO:98892
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:448227009
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:816068000
Cross Reference ID (Disease Ontology)
UMLS_CUI:C1848213
Cross Reference ID (Disease Ontology)
UMLS_CUI:C1868720
Exact Synonym (Disease Ontology)
periventricular heterotopia
OrphaNumber from OrphaNet (Orphanet)
98892
MeSH unique ID (MeSH (Medical Subject Headings))
D054091