Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

NEUROFIBROMIN 1
Synonyms

NEUROFIBROMATOSIS TYPE 1
ID

http://purl.bioontology.org/ontology/OMIM/613113
altLabel

NEUROFIBROMATOSIS TYPE 1

NEUROFIBROMATOSIS, TYPE I, SOMATIC

NEUROFIBROMATOSIS, TYPE I

LEUKEMIA, JUVENILE MYELOMONOCYTIC

WATSON SYNDROME

NEUROFIBROMATOSIS, FAMILIAL SPINAL

NEUROFIBROMIN

NF1

NEUROFIBROMATOSIS-NOONAN SYNDROME
cui

C0085113

C0349639

C4225458

C0553586

C0027831

C1834235

C2931482
Gene Locus

17q11.2
Gene Symbol

NFNS

WSS

NF1

VRNF
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/613113.0046

http://purl.bioontology.org/ontology/OMIM/613113.0028

http://purl.bioontology.org/ontology/OMIM/613113.0010

http://purl.bioontology.org/ontology/OMIM/613113.0042

http://purl.bioontology.org/ontology/OMIM/613113.0022

http://purl.bioontology.org/ontology/OMIM/613113.0023

http://purl.bioontology.org/ontology/OMIM/613113.0004

http://purl.bioontology.org/ontology/OMIM/613113.0003

http://purl.bioontology.org/ontology/OMIM/613113.0030

http://purl.bioontology.org/ontology/OMIM/613113.0031

http://purl.bioontology.org/ontology/OMIM/613113.0011

http://purl.bioontology.org/ontology/OMIM/613113.0043

http://purl.bioontology.org/ontology/OMIM/613113.0044

http://purl.bioontology.org/ontology/OMIM/613113.0005

http://purl.bioontology.org/ontology/OMIM/613113.0024

http://purl.bioontology.org/ontology/OMIM/613113.0037

http://purl.bioontology.org/ontology/OMIM/613113.0035

http://purl.bioontology.org/ontology/OMIM/613113.0036

http://purl.bioontology.org/ontology/OMIM/613113.0018

http://purl.bioontology.org/ontology/OMIM/613113.0016

http://purl.bioontology.org/ontology/OMIM/613113.0029

http://purl.bioontology.org/ontology/OMIM/613113.0009

http://purl.bioontology.org/ontology/OMIM/613113.0012

http://purl.bioontology.org/ontology/OMIM/613113.0020

http://purl.bioontology.org/ontology/OMIM/613113.0040

http://purl.bioontology.org/ontology/OMIM/613113.0021

http://purl.bioontology.org/ontology/OMIM/613113.0001

http://purl.bioontology.org/ontology/OMIM/613113.0002

http://purl.bioontology.org/ontology/OMIM/613113.0033

http://purl.bioontology.org/ontology/OMIM/613113.0032

http://purl.bioontology.org/ontology/OMIM/613113.0013

http://purl.bioontology.org/ontology/OMIM/613113.0034

http://purl.bioontology.org/ontology/OMIM/613113.0014

http://purl.bioontology.org/ontology/OMIM/613113.0041

http://purl.bioontology.org/ontology/OMIM/613113.0045

http://purl.bioontology.org/ontology/OMIM/613113.0026

http://purl.bioontology.org/ontology/OMIM/613113.0006

http://purl.bioontology.org/ontology/OMIM/613113.0027

http://purl.bioontology.org/ontology/OMIM/613113.0025

http://purl.bioontology.org/ontology/OMIM/613113.0038

http://purl.bioontology.org/ontology/OMIM/613113.0007

http://purl.bioontology.org/ontology/OMIM/613113.0008

http://purl.bioontology.org/ontology/OMIM/613113.0039

http://purl.bioontology.org/ontology/OMIM/613113.0019

http://purl.bioontology.org/ontology/OMIM/613113.0015
MIMTYPEMEANING

Gene with known sequence
notation

613113
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

NEUROFIBROMIN 1
tui

T191

T028

T033

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D025542 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C537393 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D009456 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D009456 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0027831 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MESH/D016514 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/C93.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/C93.30 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C563523 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP19747-2 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/D054429 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q85.01 International Classification of Diseases, Version 10 - Clinical Modification CUI