Neurofibromatosis

Disease Term Disease ID Gene Symbol Classification References Source
NEUROFIBROMATOSES
MESH:D017253
NF1 Unknown
21949590
CTD
NEUROFIBROMATOSIS
MONDO:0021061
CABIN1 Unknown — GenCC
NEUROFIBROMATOSIS 1
MESH:D009456
NF1 Unknown
21501659
CTD
SPRED1 Unknown
17704776
CTD
NEUROFIBROMATOSIS 2
MESH:D016518
NF2 Unknown
12136076
CTD
NEUROFIBROMATOSIS TYPE 1
MONDO:0018975
NF1 Unknown
12707950 19845691 15520408 15523642 19449407 9003501 7633431 1568247 1783401 1719426 11258625 9668168 10712197 10677298 8664912 1937470 12438263 13680360 1302608 15948193 12483293 8317503 11704931 1745350 9529361 11389087 7655472
ClinGen Orphanet
NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION
363700
NF1 Causal
20301288
Orphanet
NEUROFIBROMATOSIS TYPE 1-LIKE SYNDROME
C1969623
SPRED1 Unknown — Disgenet
NEUROFIBROMATOSIS TYPE 2
MONDO:0007039
NF2 Unknown — ClinGen
NEUROFIBROMATOSIS, FAMILIAL SPINAL
162210C1834235MESH:C563523MONDO:0008078
NF1 Causal — CTD ClinVar Disgenet HPO
NEUROFIBROMATOSIS, TYPE 1
NF1 Causal — ClinVar
NEUROFIBROMATOSIS, TYPE 2
NF2 Causal — ClinVar
NEUROFIBROMATOSIS, TYPE I
162200
NF1 Unknown — HPO