Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Neurocutaneous Syndromes (D020752)
Parent Node: Neurofibroma (D009455)
..Starting node ..Neurofibromatoses (D017253)
Child 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)
Sister Nodes:
..Neurofibroma, Plexiform (D018318)
..Neurofibromatoses (D017253) 13
..Neurofibrosarcoma (D018319)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7958
Name:	Neurofibromatoses
Definition:	A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
Alternative IDs:
ParentIDs:	MESH:D009386\|MESH:D009455\|MESH:D020271\|MESH:D020752
TreeNumbers:	C04.557.580.600.580.590 \|C04.700.645 \|C10.562.600 \|C10.574.500.549 \|C16.320.400.560 \|C16.320.700.645
Synonyms:	Multiple Neurofibroma \|Multiple Neurofibromas \|Neurofibroma, Multiple \|Neurofibromas, Multiple \|Neurofibromatosis \|Neurofibromatosis 3 \|Neurofibromatosis 3s \|Neurofibromatosis Syndrome \|Neurofibromatosis Syndromes \|Neurofibromatosis Type 3 \|Neurofibromatosis Type
Slim Mappings:	Cancer\|Genetic disease (inborn)\|Nervous system disease
Reference:	MedGen: D017253 MeSH: D017253 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants