Details of Disease | DrugMAP

General Information of Disease (ID: DISUNPXT)

Disease Name	Neurofibromatosis, familial spinal
Synonyms	Fsnf; neurofibromatosis, familial spinal
Disease Hierarchy	DIS53JH9: Neurofibromatosis type 1 DISUNPXT: Neurofibromatosis, familial spinal
Disease Identifiers	MONDO ID MONDO_0008078 UMLS CUI C1834235 OMIM ID 162210 MedGen ID 320296 SNOMED CT ID 1003465006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NF1	OTC29NHH	Definitive	Autosomal dominant	[1]
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References

1	Spinal neurofibromatosis without caf-au-lait macules in two families with null mutations of the NF1 gene. Am J Hum Genet. 2001 Dec;69(6):1395-400. doi: 10.1086/324648. Epub 2001 Oct 18.