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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: Chromosome Disorders (D025063)
Parent Node: Chromosome Duplication (D058674)
Parent Node: Facies (D019066)
Parent Node: Intellectual Disability (D008607)
Parent Node: Neurofibromatoses (D017253)
..Starting node ..NF1 Microduplication Syndrome (C567173)
Child Nodes:
Sister Nodes:
..Neurofibromatosis 1 (D009456) 1
..Neurofibromatosis 2 (D016518)
..Neurofibromatosis type 5 (C537390)
..Neurofibromatosis, familial intestinal (C537391)
..Neurofibromatosis, Familial Spinal (C563523)
..Neurofibromatosis, Type 3, mixed central and peripheral (C537389)
..Neurofibromatosis, type 4, of Riccardi (C537392)
..Neurofibromatosis-Noonan syndrome (C537393)
..Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome (C563522)
..NF1 Microdeletion Syndrome (C563524)
..NF1 Microduplication Syndrome (C567173)
..Schwannomatosis (C536641)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8051
Name:	NF1 Microduplication Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D008607\|MESH:D017253\|MESH:D019066\|MESH:D025063\|MESH:D058674
TreeNumbers:	C04.557.580.600.580.590/C567173 \|C04.700.645/C567173 \|C10.562.600/C567173 \|C10.574.500.549/C567173 \|C10.597.606.643/C567173 \|C16.131.260/C567173 \|C16.320.180/C567173 \|C16.320.400.560/C567173 \|C16.320.700.645/C567173 \|C23.550.210.182/C567173 \|C23.550.291.812/C56717
Synonyms:
Slim Mappings:	Cancer\|Congenital abnormality\|Genetic disease (inborn)\|Mental disorder\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C567173 MeSH: C567173 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants