Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

NOONAN SYNDROME 1
Synonyms

NOONAN SYNDROME

PTERYGIUM COLLI SYNDROME

TURNER PHENOTYPE WITH NORMAL KARYOTYPE

FEMALE PSEUDO-TURNER SYNDROME

NS1

MALE TURNER SYNDROME
ID

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

NOONAN SYNDROME

PTERYGIUM COLLI SYNDROME

TURNER PHENOTYPE WITH NORMAL KARYOTYPE

FEMALE PSEUDO-TURNER SYNDROME

NS1

MALE TURNER SYNDROME
cui

C0028326

C4551602

C1527404

C0041409

C0265261
Gene Locus

12q24.1
Gene Symbol

NS1

PTPN11

JMML

SHP2

METCDS

PTP2C
Has manifestation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Phenotype description, molecular basis known.
notation

163950
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NOONAN SYNDROME 1
Scope Statement

Genetic heterogeneity [MISCELLANEOUS]

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

Allelic to LEOPARD syndrome (151100) [MISCELLANEOUS]
tui

T047

T019
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D009634 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D009634 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D009634 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D009634 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/80773006 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D009634 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10029748 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-00302 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/205684007 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205684007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10029748 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002192 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10029748 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/205824006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/Q87.19 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/205824006 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/D009634 MESH CUI
http://purl.bioontology.org/ontology/MESH/D009634 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-00903 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10085738 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/80773006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10085738 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10085738 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/C537377 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0008104 MONDO LOOM
http://purl.obolibrary.org/obo/NCIT_C75459 BERO LOOM
http://identifiers.org/omim/163950 REXO LOOM
http://identifiers.org/omim/163950 GEXO LOOM
http://identifiers.org/omim/163950 RETO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75459 NCIT LOOM
http://purl.obolibrary.org/obo/MONDO_0008104 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0008104 KTAO LOOM
http://purl.obolibrary.org/obo/DOID_0060578 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060578 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060578 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060578 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060578 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIM_163950 CCO LOOM