loading...| Preferred Name | Noonan Syndrome [Disease/Finding] | |
| Synonyms |
Turner's Phenotype, Karyotype Normal Pseudo-Ullrich-Turner Syndrome Noonan Syndrome 1 Familial Turner Syndrome Turner-Like Syndrome Noonan Syndrome Noonan-Ehmke Syndrome Turner Phenotype with Normal Karyotype Ullrich-Noonan Syndrome |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002192 |
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| altLabel |
Turner's Phenotype, Karyotype Normal Pseudo-Ullrich-Turner Syndrome Noonan Syndrome 1 Familial Turner Syndrome Turner-Like Syndrome Noonan Syndrome Noonan-Ehmke Syndrome Turner Phenotype with Normal Karyotype Ullrich-Noonan Syndrome |
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| cui |
C0028326 |
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| May be treated by |
http://purl.bioontology.org/ontology/NDFRT/N0000177229 http://purl.bioontology.org/ontology/NDFRT/N0000177243 http://purl.bioontology.org/ontology/NDFRT/N0000148207 http://purl.bioontology.org/ontology/NDFRT/N0000177235 http://purl.bioontology.org/ontology/NDFRT/N0000177244 http://purl.bioontology.org/ontology/NDFRT/N0000177222 http://purl.bioontology.org/ontology/NDFRT/N0000177233 http://purl.bioontology.org/ontology/NDFRT/N0000163961 http://purl.bioontology.org/ontology/NDFRT/N0000191680 http://purl.bioontology.org/ontology/NDFRT/N0000177238 http://purl.bioontology.org/ontology/NDFRT/N0000177253 http://purl.bioontology.org/ontology/NDFRT/N0000177236 http://purl.bioontology.org/ontology/NDFRT/N0000177237 http://purl.bioontology.org/ontology/NDFRT/N0000177227 http://purl.bioontology.org/ontology/NDFRT/N0000183223 http://purl.bioontology.org/ontology/NDFRT/N0000177240 http://purl.bioontology.org/ontology/NDFRT/N0000177221 http://purl.bioontology.org/ontology/NDFRT/N0000177241 http://purl.bioontology.org/ontology/NDFRT/N0000148258 http://purl.bioontology.org/ontology/NDFRT/N0000177245 http://purl.bioontology.org/ontology/NDFRT/N0000177247 http://purl.bioontology.org/ontology/NDFRT/N0000177239 http://purl.bioontology.org/ontology/NDFRT/N0000177223 http://purl.bioontology.org/ontology/NDFRT/N0000147492 http://purl.bioontology.org/ontology/NDFRT/N0000177226 http://purl.bioontology.org/ontology/NDFRT/N0000177225 http://purl.bioontology.org/ontology/NDFRT/N0000192731 http://purl.bioontology.org/ontology/NDFRT/N0000177230 http://purl.bioontology.org/ontology/NDFRT/N0000177224 http://purl.bioontology.org/ontology/NDFRT/N0000163963 |
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| MESH DEFINITION |
A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. |
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| MESH DUI |
D009634 |
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| MeSH name |
Noonan Syndrome |
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| MESH UI |
M0014957 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000002192 |
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| NUI |
N0000002192 |
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| prefLabel |
Noonan Syndrome [Disease/Finding] |
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| SNOMED CID |
205684007 205824006 |
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| tui |
T047 |
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| subClassOf |