Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

NEUROFIBROMATOSIS, TYPE I
Synonyms

NEUROFIBROMATOSIS, PERIPHERAL TYPE
ID

http://purl.bioontology.org/ontology/OMIM/162200
altLabel

NEUROFIBROMATOSIS, PERIPHERAL TYPE

VON RECKLINGHAUSEN DISEASE

NF1
cui

C0027831
Gene Locus

17q11.2
Gene Symbol

NFNS

WSS

NF1

VRNF
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU016769

http://purl.bioontology.org/ontology/OMIM/MTHU016767

http://purl.bioontology.org/ontology/OMIM/MTHU016765

http://purl.bioontology.org/ontology/OMIM/MTHU004639

http://purl.bioontology.org/ontology/OMIM/MTHU016763

http://purl.bioontology.org/ontology/OMIM/MTHU053495

http://purl.bioontology.org/ontology/OMIM/MTHU016761

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU016771

http://purl.bioontology.org/ontology/OMIM/MTHU007928

http://purl.bioontology.org/ontology/OMIM/MTHU045208

http://purl.bioontology.org/ontology/OMIM/MTHU045206

http://purl.bioontology.org/ontology/OMIM/MTHU045209

http://purl.bioontology.org/ontology/OMIM/MTHU045210

http://purl.bioontology.org/ontology/OMIM/MTHU014989

http://purl.bioontology.org/ontology/OMIM/MTHU003590

http://purl.bioontology.org/ontology/OMIM/MTHU016246

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU014990

http://purl.bioontology.org/ontology/OMIM/MTHU024006

http://purl.bioontology.org/ontology/OMIM/MTHU016768

http://purl.bioontology.org/ontology/OMIM/MTHU016762

http://purl.bioontology.org/ontology/OMIM/MTHU016760

http://purl.bioontology.org/ontology/OMIM/MTHU016766

http://purl.bioontology.org/ontology/OMIM/MTHU016770

http://purl.bioontology.org/ontology/OMIM/MTHU016764

http://purl.bioontology.org/ontology/OMIM/MTHU016772

http://purl.bioontology.org/ontology/OMIM/MTHU045207

http://purl.bioontology.org/ontology/OMIM/MTHU015027

http://purl.bioontology.org/ontology/OMIM/MTHU045211

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU006253

http://purl.bioontology.org/ontology/OMIM/MTHU014941

http://purl.bioontology.org/ontology/OMIM/MTHU016759

http://purl.bioontology.org/ontology/OMIM/MTHU010521
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

162200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NEUROFIBROMATOSIS, TYPE I
tui

T191
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Delete Mapping To Ontology Source
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/ICD10CM/Q85.01 International Classification of Diseases, Version 10 - Clinical Modification CUI