neurofibromatosis type 1
A clinically heterogeneous, neurocutaneous genetic disorder characterized by cafe-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
MONDO:0005328
eye disorder
excluded_subClassOf
MONDO:0018792
obsolete Moyamoya syndrome (obsolete MONDO:0018792)
excluded_subClassOf
MONDO:0019300
obsolete rare skin tumor or hamartoma (obsolete MONDO:0019300)
excluded_subClassOf
MONDO:0019755
developmental defect during embryogenesis
is_a
MONDO:0021060
RASopathy
is_a
MONDO:0021061
neurofibromatosis
is_a
MONDO:0021635
neurocristopathy
is_a
NF1
exact
Neurofibromatosis 1
exact
Nf1-Microdeletion syndrome
exact
Recklinghausen's disease
related
neurofibromatosis
broad
neurofibromatosis 1
exact
neurofibromatosis type 1
exact
neurofibromatosis type i
exact
neurofibromatosis, type 1
exact
nonmosaic NF1
exact
nonmosaic neurofibromatosis type 1
exact
peripheral neurofibromatosis
exact
type 1 neurofibromatosis
related