Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Noonan_syndrome_with_multiple_lentigines> ?p ?o }
- Noonan_syndrome_with_multiple_lentigines abstract "Noonan Syndrome with Multiple Lentigines (NSML) (also known as LEOPARD syndrome, Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa syndrome, Progressive cardiomyopathic lentiginosis, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome), which is part of a group called Ras/MAPK pathway syndromes, — is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy.Noonan Syndrome with Multiple Lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly common (1:1,000 to 1:2,500 live births), and neurofibromatosis 1 (which was once thought to be related to NSML) is also common (1:3500); however, no epidemiological data exists for NSML.".
- Noonan_syndrome_with_multiple_lentigines omim "151100".
- Noonan_syndrome_with_multiple_lentigines thumbnail Leopardsyn1a.jpg?width=300.
- Noonan_syndrome_with_multiple_lentigines wikiPageExternalLink diagnose.htm.
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- Noonan_syndrome_with_multiple_lentigines wikiPageID "6062461".
- Noonan_syndrome_with_multiple_lentigines wikiPageLength "18331".
- Noonan_syndrome_with_multiple_lentigines wikiPageOutDegree "86".
- Noonan_syndrome_with_multiple_lentigines wikiPageRevisionID "707989802".
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Abnormality_(behavior).
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Allele.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Aneurysm.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Aortic_stenosis.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Bundle_branch_block.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Café_au_lait_spot.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Cardiac_arrhythmia.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Catalysis.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Category:Enzyme_defects.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Category:Genodermatoses.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Category:Melanocytic_nevi_and_neoplasms.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Category:Neuro-cardio-facial-cutaneous_syndromes.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Category:RASopathies.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Category:Syndromes.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Cheek.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Cryptorchidism.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Cutaneous_condition.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Diagnosis.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Dominance_(genetics).
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Electrical_resistivity_and_conductivity.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Electrocardiography.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Epidemiology.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Epileptic_seizure.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Failure_to_thrive.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Follicle-stimulating_hormone.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Freckle.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Genetic_diversity.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Hallmark.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Hearing_loss.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Heart.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Human_eye.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Hyperelastic_material.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Hypertelorism.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Hypopigmentation.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Hyposmia.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink ICD-10.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Interdigital_webbing.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink International_Statistical_Classification_of_Diseases_and_Related_Health_Problems.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Lentiginosis.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Lentigo.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Leopard.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Lesion.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Leukemia.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Low-set_ears.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Missense_mutation.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Mitral_valve_prolapse.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Mnemonic.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Monorchism.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Mutation.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Neurofibromatosis.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Neurofibromatosis_type_I.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Noonan_syndrome.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Nystagmus.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink PTPN11.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Pectus_carinatum.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Prognathism.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Protein_tyrosine_phosphatase.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Pulmonary_artery.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Pulmonic_stenosis.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink RASopathy.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Sclera.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Sensorineural_hearing_loss.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Sex_organ.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Testicle.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Thyroid-stimulating_hormone.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Torso.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Transversion.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink Vitiligo.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLink File:Autosomal_Dominant_Pedigree_Chart.svg.
- Noonan_syndrome_with_multiple_lentigines wikiPageWikiLinkText "Noonan syndrome with multiple lentigines".
- Noonan_syndrome_with_multiple_lentigines caption "Three-quarter facial view, first-generation patient showing slight prognathism and low set ears.".
- Noonan_syndrome_with_multiple_lentigines diseasesdb "7387".
- Noonan_syndrome_with_multiple_lentigines emedicinesubj "article".
- Noonan_syndrome_with_multiple_lentigines emedicinetopic "1096445".
- Noonan_syndrome_with_multiple_lentigines genereviewsname "LEOPARD Syndrome".
- Noonan_syndrome_with_multiple_lentigines genereviewsnbk "NBK1383".
- Noonan_syndrome_with_multiple_lentigines medlineplus "1473".
- Noonan_syndrome_with_multiple_lentigines meshname "LEOPARD+Syndrome".
- Noonan_syndrome_with_multiple_lentigines meshnumber "C05.660.207.525".
- Noonan_syndrome_with_multiple_lentigines name "Noonan Syndrome with Multiple Lentigines".
- Noonan_syndrome_with_multiple_lentigines omim "151100".
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- Noonan_syndrome_with_multiple_lentigines wikiPageUsesTemplate Template:Good_article.