MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: congenital nervous system disorder (MONDO:0002320)
Parent Node: hyperpigmentation of the skin (MONDO:0019289)
Parent Node: inherited skin tumor (MONDO:0015950)
Parent Node: malformation syndrome with hamartosis (MONDO:0020063)
Parent Node: neurofibromatosis (MONDO:0021061)
Parent Node: schwannoma (MONDO:0002546)
..Starting node ..neurofibromatosis type 3 ()
Child Nodes:
........neurofibromatosis, type III, mixed central and peripheral ()
........schwannomatosis 1 ()
........schwannomatosis 2 ()
Sister Nodes:
..acoustic neuroma ()
..benign neurilemmoma ()
..cellular schwannoma ()
..melanotic neurilemmoma ()
..microcystic/reticular schwannoma ()
..neurofibromatosis type 3 ()
..peripheral nerve schwannoma ()
..plexiform schwannoma ()
..schwannoma of twelfth cranial nerve ()
..sympathetic neurilemmoma ()
..trigeminal schwannoma ()
..vestibular schwannoma (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	8075
Name:	neurofibromatosis type 3
Definition:	Neurofibromatosis (NF) type 3 (NF3), also known as schwannomatosis, is the least frequent form of the rare genetic disorder neurofibromatosis. It is clinically and genetically distinct from NF1 and NF2 and is characterized by the development of multiple schwannomas (nerve sheath tumors), without involvement of the vestibular nerves. NF3 develops in adulthood and is often associated with chronic pain. Dysesthesia and paresthesia may also be present. Common localizations include the spine, peripheral nerves, and the cranium.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	congenital cutaneous neurilemmomatosis; neurilemmomatosis; neurilemmomatosis congenital cutaneous; neurilemmomatosis, congenital cutaneous; neurinoma; Neurinomatosis; NF3; Schwannomatosis; schwannomatosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CABP4;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal