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Preferred Name

NOONAN SYNDROME 1
Synonyms

MALE TURNER SYNDROME
ID

http://purl.bioontology.org/ontology/OMIM/163950
altLabel

MALE TURNER SYNDROME

FEMALE PSEUDO-TURNER SYNDROME

PTERYGIUM COLLI SYNDROME

TURNER PHENOTYPE WITH NORMAL KARYOTYPE

NOONAN SYNDROME

NS1
cui

C0265261

C0028326

C4551602

C0041409

C1527404
Gene Locus

12q24.1
Gene Symbol

PTPN11

JMML

METCDS

PTP2C

NS1

SHP2
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU001042

http://purl.bioontology.org/ontology/OMIM/MTHU015990

http://purl.bioontology.org/ontology/OMIM/MTHU026469

http://purl.bioontology.org/ontology/OMIM/MTHU067312

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU037025

http://purl.bioontology.org/ontology/OMIM/MTHU058269

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU008022

http://purl.bioontology.org/ontology/OMIM/MTHU000073

http://purl.bioontology.org/ontology/OMIM/MTHU003212

http://purl.bioontology.org/ontology/OMIM/MTHU026471

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU008662

http://purl.bioontology.org/ontology/OMIM/MTHU014835

http://purl.bioontology.org/ontology/OMIM/MTHU016228

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

http://purl.bioontology.org/ontology/OMIM/MTHU016661

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

http://purl.bioontology.org/ontology/OMIM/MTHU058270

http://purl.bioontology.org/ontology/OMIM/MTHU016679

http://purl.bioontology.org/ontology/OMIM/MTHU016671

http://purl.bioontology.org/ontology/OMIM/MTHU016675

http://purl.bioontology.org/ontology/OMIM/MTHU016673

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

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU036521

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

http://purl.bioontology.org/ontology/OMIM/MTHU026470

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU026468

http://purl.bioontology.org/ontology/OMIM/MTHU021049

http://purl.bioontology.org/ontology/OMIM/MTHU006871

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU016668

http://purl.bioontology.org/ontology/OMIM/MTHU036913

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU009597

http://purl.bioontology.org/ontology/OMIM/MTHU001158

http://purl.bioontology.org/ontology/OMIM/MTHU036427

http://purl.bioontology.org/ontology/OMIM/MTHU011563

http://purl.bioontology.org/ontology/OMIM/MTHU016672

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

http://purl.bioontology.org/ontology/OMIM/MTHU016670

http://purl.bioontology.org/ontology/OMIM/MTHU016664

http://purl.bioontology.org/ontology/OMIM/MTHU016662

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

http://purl.bioontology.org/ontology/OMIM/MTHU000195

http://purl.bioontology.org/ontology/OMIM/MTHU016680

http://purl.bioontology.org/ontology/OMIM/MTHU016674
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

163950
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NOONAN SYNDROME 1
Scope Statement

Caused by mutation in the protein tyrosine phosphatase, nonreceptor-type, 11 gene (PTPN11, 176876.0001) [MOLECULAR BASIS]

Genetic heterogeneity [MISCELLANEOUS]

Allelic to LEOPARD syndrome (151100) [MISCELLANEOUS]
tui

T019

T047
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