About: Neurofibromatosis Type 1

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Neurofibromatosis Type 1
equivalentClass	nodeID://b636125
Semantic_Type	Neoplastic Process
Preferred_Name	Neurofibromatosis Type 1
UMLS_CUI	C0027831
ALT_DEFINITION	A rare genetic condition that causes brown spots and tumors on the skin, freckling in skin areas not exposed to the sun, tumors on the nerves, and developmental changes in the nervous system, muscles, bone, and skin.NCI-GLOSS
Neoplastic_Status	Undetermined
Legacy_Concept_Name	Neurofibromatosis_Type_1
FULL_SYN	NF1PTNCI-GLOSSCDR0000339366 neurofibromatosis type 1PTNCI-GLOSSCDR0000045096 Neurofibromatosis Type 1PTNCI Von Recklinghausen DiseaseSYNCI Peripheral NeurofibromatosisSYNCI Neurofibromatosis 1SYNCI
DEFINITION	Type 1 (peripheral) neurofibromatosis (von Recklinghausen's disease), is the most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath neoplasms, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.NCI
code	C3273
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0014710
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is sameAs of	Neurofibromatosis 1

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