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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
| Id | http://purl.bioontology.org/ontology/NDFRT/N0000002192
http://purl.bioontology.org/ontology/NDFRT/N0000002192
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|---|---|
| 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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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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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| prefLabel | Noonan Syndrome [Disease/Finding]
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| notation | N0000002192
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| May be treated by |
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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 UI | M0014957
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name | Noonan Syndrome
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| NDFRT kind | DISEASE_KIND
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| type | |
| SNOMED CID |
205684007
205824006
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| tui | T047
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| NUI | N0000002192
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| cui | C0028326
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| MESH DUI | D009634
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| Delete | Subject | Author | Type | Created |
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| No notes to display |