Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

NEUROFIBROMATOSIS-NOONAN SYNDROME
Synonyms

NFNS
ID

http://purl.bioontology.org/ontology/OMIM/601321
altLabel

NFNS

NEUROFIBROMATOSIS WITH NOONAN PHENOTYPE

NOONAN-NEUROFIBROMATOSIS SYNDROME
cui

C2931482
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/MTHU005817

http://purl.bioontology.org/ontology/OMIM/MTHU005573

http://purl.bioontology.org/ontology/OMIM/MTHU000567

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

http://purl.bioontology.org/ontology/OMIM/MTHU000514

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

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU000509

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU005626

http://purl.bioontology.org/ontology/OMIM/MTHU016665

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

http://purl.bioontology.org/ontology/OMIM/MTHU003860

http://purl.bioontology.org/ontology/OMIM/MTHU036841

http://purl.bioontology.org/ontology/OMIM/MTHU014987

http://purl.bioontology.org/ontology/OMIM/MTHU038524

http://purl.bioontology.org/ontology/OMIM/MTHU038526

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

http://purl.bioontology.org/ontology/OMIM/MTHU036357

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

http://purl.bioontology.org/ontology/OMIM/MTHU001440

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU000066

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

http://purl.bioontology.org/ontology/OMIM/MTHU003359

http://purl.bioontology.org/ontology/OMIM/MTHU016666

http://purl.bioontology.org/ontology/OMIM/MTHU058612

http://purl.bioontology.org/ontology/OMIM/MTHU036403

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

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU038525

http://purl.bioontology.org/ontology/OMIM/MTHU038523
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

601321
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NEUROFIBROMATOSIS-NOONAN SYNDROME
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0111683 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/C537393 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537393 Medical Subject Headings LOOM