periventricular nodular heterotopia 7

periventricular nodular heterotopia 7

http://purl.obolibrary.org/obo/MONDO_0014966

Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: periventricular nodular heterotopia 7 periventricular nodular heterotopia caused by mutation in NEDD4L periventricular nodular heterotopia type 7 periventricular nodular heterotopia 7; PVNH7 PVNH7 NEDD4L periventricular nodular heterotopia

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This is just here as a test because I lose it

Term information

database cross reference

OMIM:617201 (MONDO:equivalentTo)
UMLS:C4310669 (MONDO:ncbi_mim2gene_medline)
GARD:16210 (OMIM:617201)

Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C4310669

https://omim.org/entry/617201

MONDO:0014966

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014966

Term relations

Subclass of:

periventricular nodular heterotopia