loading...| Preferred Name | Noonan Syndrome | |
| Synonyms |
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|
| Definitions |
A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00039945 |
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| Database_Cross_Reference |
SNOMEDCT_US:205794007 MTH:NOCODE MEDCIN:33272 RCD:PKy80 OMIM:163950 CCPSS:0057183 NCI:C34854 SNMI:D4-00302 RCD:PJ630 CHV:0000008767 NCI:C75459 DO:DOID:3490 SNOMEDCT_US:205824006 OMIM:176876 SNOMEDCT_US:88327006 ICD10CM:Q87.1 DO:DOID:0060578 MDR:10029748 DXP:U001304 SNOMEDCT_US:205684007 DXP:NOCODE SNM:D-5354 NDFRT:N0000002192 JABL:487 MSH:D009634 NCI_NICHD:C34854 |
|
| Definition |
A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. |
|
| label |
Noonan Syndrome |
|
| MCID |
MC00008992 |
|
| PMOID |
PMO:00039945 |
|
| prefixIRI |
pmo:PMO_00039945 |
|
| prefLabel |
Noonan Syndrome |
|
| Synonym |
NOONAN SYNDROME 1 Noonan Syndrome 1 familial syndrome turners NOONAN SYNDROME Turner phenotype with normal karyotype noonan syndrome Noonan syndrome 1 PSEUDO-TURNER SYNDROME Turner Like Syndrome NS1 Turner's phenotype, karyo norm Turner's phenotype, karyotype normal males syndrome turners Turner-Like Syndrome Syndrome, Noonan-Ehmke male turner syndrome Syndrome, Noonan Noonan's syndrome Turner Phenotype with Normal Karyotype Turner syndrome in female with X chromosome Noonan syndrome noonan's syndrome Turner's Phenotype, Karyotype Normal Syndrome, Pseudo-Ullrich-Turner Turner's phenotype, karyotype normal (disorder) Ullrich Noonan Syndrome Noonan-Ehmke syndrome Syndrome, Familial Turner Noonan's Syndrome Turner phenotype, karyotype normal Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome noonans syndrome Familial Turner Syndrome Ullrich-Turner syndrome Turner Syndrome, Familial Noonan-Ehmke Syndrome Noonan Ehmke Syndrome Syndrome, Turner-Like familial Turner syndrome Pseudo Ullrich Turner Syndrome Noonan Syndrome [Disease/Finding] Ullrich-Noonan Syndrome Pseudo-Ullrich-Turner Syndrome Syndrome, Ullrich-Noonan Noonan's syndrome (diagnosis) Noonan syndrome (disorder) Noonan's syndrome (disorder) Turner-like syndrome |
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| Tree Number |
T9.20.1.3.11 T9.14.2.5 T9.20.3.1.11 T9.8.3.3.1.11 T9.8.3.7.8.7 T9.3.6.8.7 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00039944 http://www.phoc.org.cn/pmo/class/PMO_00004451 |