Disease browser and phenotype portal

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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 Deletion (D002872)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Intellectual Disability (D008607)
Parent Node: Learning Disorders (D007859)
Parent Node: Neurofibromatoses (D017253)
..Starting node ..NF1 Microdeletion Syndrome (C563524)
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:	8050
Name:	NF1 Microdeletion Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002872\|MESH:D007859\|MESH:D008607\|MESH:D017253\|MESH:D019465
TreeNumbers:	C04.557.580.600.580.590/C563524 \|C04.700.645/C563524 \|C05.660.207/C563524 \|C10.562.600/C563524 \|C10.574.500.549/C563524 \|C10.597.606.150.550/C563524 \|C10.597.606.643/C563524 \|C16.131.621.207/C563524 \|C16.320.400.560/C563524 \|C16.320.700.645/C563524 \|C23.550.210.05
Synonyms:
Slim Mappings:	Cancer\|Congenital abnormality\|Genetic disease (inborn)\|Mental disorder\|Musculoskeletal disease\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C563524 MeSH: C563524 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants