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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Periventricular Nodular Heterotopia (D054091)
..Starting node ..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
Child Nodes:
Sister Nodes:
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Heterotopia, Periventricular, associated with Chromosome 5p Anomalies (C564291)
..Heterotopia, Periventricular, Associated With Chromosome 5q Deletion (C567876)
..Heterotopia, Periventricular, Autosomal Recessive (C564292)
..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
..Periventricular Laminar Heterotopia (C548481)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5164
Name:	Heterotopia, Periventricular, Ehlers-Danlos Variant
Definition:
Alternative IDs:	OMIM:300537
ParentIDs:	MESH:D040181\|MESH:D054091
TreeNumbers:	C10.500.507.450.750/C564492 \|C16.131.666.507.450.750/C564492 \|C16.320.322/C564492
Synonyms:	Periventricular Nodular Heterotopia 4 \|PVNH4
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: C564492 MeSH: C564492 OMIM: 300537; Genes: FLNA;
Phenotypes
Disease Causing ClinVar Variants