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bn:00057409n
Noun Concept
Categories: RASopathies, All articles containing potentially dated statements, Neuro-cardio-facial-cutaneous syndromes, Neurological disorders, Genodermatoses
EN
neurofibromatosis  von Recklinghausen's disease  neurofibromatosis type I  neurofibromatoses  neurofibromatosis 1
EN
Autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities WordNet 3.0
Definitions
Relations
Sources
EN
Autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities WordNet 3.0 & Open English WordNet
Neurofibromatosis type I, or von Recklinghausen syndrome, is a complex multi-system human disorder caused by the mutation of Neurofibromin 1, a gene on chromosome 17 that is responsible for production of a protein which is needed for normal function in many human cell types. Wikipedia
Neurofibromatosis is a group of three conditions in which tumors grow in the nervous system. Wikipedia
Type of neurofibromatosis disease Wikidata
Human diseases Wikidata
An autosomal dominant genetic disorder encompassing a set of distinct genetic disorders that cause tumors to grow along types of nerves and, in addition, can affect the development of non-nervous tissues such as bones and skin. OmegaWiki
A genetic disorder characterized by the presence of multiple neurofibromas under the skin. Wiktionary
Genetic disorder. Wiktionary (translation)
IS A
autosomal dominant disease
monogenic disorder
disease
rare disease
neurofibromatosis
+2 relations
HAS KIND
neurofibromatosis
Neurofibromatosis type 3
Neurofibromatosis type 4
neurofibromatosis type II
schwannomatosis
+1 relations
GENETIC ASSOCIATION
neurofibromin 2
neurofibromin 1
HEALTH SPECIALTY
neurology
medical genetics
MODE OF INHERITANCE
autosomal dominant
POSSIBLE MEDICAL FINDINGS
Crowe sign
WordNet 3.0 & Open English WordNet
EN
neurofibromatosis, von Recklinghausen's disease
Wikipedia
EN
neurofibromatosis, neurofibromatosis type I
Wikidata
EN
neurofibromatoses, neurofibromatosis type I
Wiktionary
EN
neurofibromatosis
OmegaWiki
EN
neurofibromatosis
Wikipedia Redirections
EN
Acoustic neurofibromatosis, Neurofibramatosis, neurofibromatoses, Neurofibromatosis1, Neurofibromatosis - multiple neurofibromas, neurofibromatosis 1, Neurofibromatosis 1 gene, neurofibromatosis type 1, Neurofibromatosis type i, Recklinghausen disease, Recklinhausen's disease, Segmental neurofibromatosis, Van Recklinhausen's disease, von Recklinghausen's Disease, von Recklinghausen's disease, von Recklinghausen disease, Von Recklinghausen neurofibromatosis, Von Recklinghausen syndrome, Von Recklinhausen's disease, Von Recklinhausen disease, Von Recklinhausen neurofibromatosis
Wikidata Alias
EN
Acoustic neurofibromatosis, central Neurofibromatosis, familial spinal neurofibromatosis, FSNF, Neurofibromatosis, neurofibromatosis, Neurofibromatosis, Atypical, Neurofibromatosis, NF, NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI, NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4, neurofibromatosis-1, neurofibromatosis 1, Neurofibromatosis 1, neurofibromatosis type 1, neurofibromatosis type 2, neurofibromatosis type 4, Neurofibromatosis type 4, neurofibromatosis type I, neurofibromatosis type IV, NF1, NF4, Nf 4, peripheral Neurofibromatosis, Peripheral Neurofibromatosis, Recklinghausen's neurofibromatosis, type IV neurofibromatosis of riccardi, Von Recklinghausen's neurofibromatosis, von Recklinghausen Disease, Von Recklinghausen disease, von Reklinghausen disease, Neurofibromatosis, Variant Form(S) of

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