Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11
Synonyms

PTPN11
ID

http://purl.bioontology.org/ontology/OMIM/176876
altLabel

PTPN11

TYROSINE PHOSPHATASE SHP2

PTP2C

PROTEIN-TYROSINE PHOSPHATASE 2C

NOONAN SYNDROME 1

LEOPARD SYNDROME 1

LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC

NOONAN SYNDROME

METACHONDROMATOSIS

SHP2
cui

C0410530

C1335280

C0028326

C0175704

C4016288

C0041409
Gene Locus

12q24.1
Gene Symbol

PTPN11

JMML

METCDS

PTP2C

NS1

SHP2
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/176876.0020

http://purl.bioontology.org/ontology/OMIM/176876.0005

http://purl.bioontology.org/ontology/OMIM/176876.0021

http://purl.bioontology.org/ontology/OMIM/176876.0001

http://purl.bioontology.org/ontology/OMIM/176876.0033

http://purl.bioontology.org/ontology/OMIM/176876.0031

http://purl.bioontology.org/ontology/OMIM/176876.0018

http://purl.bioontology.org/ontology/OMIM/176876.0034

http://purl.bioontology.org/ontology/OMIM/176876.0032

http://purl.bioontology.org/ontology/OMIM/176876.0014

http://purl.bioontology.org/ontology/OMIM/176876.0012

http://purl.bioontology.org/ontology/OMIM/176876.0026

http://purl.bioontology.org/ontology/OMIM/176876.0006

http://purl.bioontology.org/ontology/OMIM/176876.0025

http://purl.bioontology.org/ontology/OMIM/176876.0007

http://purl.bioontology.org/ontology/OMIM/176876.0019

http://purl.bioontology.org/ontology/OMIM/176876.0027

http://purl.bioontology.org/ontology/OMIM/176876.0030

http://purl.bioontology.org/ontology/OMIM/176876.0010

http://purl.bioontology.org/ontology/OMIM/176876.0024

http://purl.bioontology.org/ontology/OMIM/176876.0022

http://purl.bioontology.org/ontology/OMIM/176876.0004

http://purl.bioontology.org/ontology/OMIM/176876.0023

http://purl.bioontology.org/ontology/OMIM/176876.0002

http://purl.bioontology.org/ontology/OMIM/176876.0003

http://purl.bioontology.org/ontology/OMIM/176876.0035

http://purl.bioontology.org/ontology/OMIM/176876.0015

http://purl.bioontology.org/ontology/OMIM/176876.0011

http://purl.bioontology.org/ontology/OMIM/176876.0028

http://purl.bioontology.org/ontology/OMIM/176876.0008

http://purl.bioontology.org/ontology/OMIM/176876.0009

http://purl.bioontology.org/ontology/OMIM/176876.0036

http://purl.bioontology.org/ontology/OMIM/176876.0016

http://purl.bioontology.org/ontology/OMIM/176876.0017

http://purl.bioontology.org/ontology/OMIM/176876.0029
MIMTYPEMEANING

Gene with known sequence
notation

176876
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 11
tui

T191

T028

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/LNC/LP32678-2 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/D044542 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.1 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D009634 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D009634 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D054592 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C562938 Medical Subject Headings CUI