loading...| Preferred Name |
Noonan syndrome |
|
| Synonyms |
Turner's phenotype, karyotype normal Noonan's syndrome Noonan syndrome Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome |
|
| Definitions |
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018997 |
|
| closeMatch |
http://identifiers.org/snomedct/88327006 |
|
| database_cross_reference |
NCIT:C34854 UMLS:C0028326 ICD10:Q87.1 GARD:0010955 MedDRA:10029748 MESH:D009634 Orphanet:648 OMIMPS:163950 SCTID:205824006 ICD9:759.89 DOID:3490 |
|
| exactMatch |
http://identifiers.org/meddra/10029748 http://identifiers.org/mesh/D009634 http://purl.obolibrary.org/obo/NCIT_C34854 http://identifiers.org/snomedct/205824006 http://linkedlifedata.com/resource/umls/id/C0028326 |
|
| has exact synonym |
Turner's phenotype, karyotype normal Noonan's syndrome Noonan syndrome |
|
| has related synonym |
Noonan-Ehmke syndrome Ullrich-Noonan syndrome pseudo-Ullrich-Turner syndrome |
|
| id |
MONDO:0018997 |
|
| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/mondo#ordo_malformation_syndrome |
|
| label |
Noonan syndrome |
|
| notation |
MONDO:0018997 |
|
| prefLabel |
Noonan syndrome |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
|
| textual definition |
Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects. |
|
| excluded subClassOf | ||
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015218 http://purl.obolibrary.org/obo/MONDO_0015620 http://purl.obolibrary.org/obo/MONDO_0020167 http://purl.obolibrary.org/obo/MONDO_0043007 http://purl.obolibrary.org/obo/MONDO_0020297 http://purl.obolibrary.org/obo/MONDO_0015945 http://purl.obolibrary.org/obo/MONDO_0019313 http://purl.obolibrary.org/obo/MONDO_0020169 http://purl.obolibrary.org/obo/MONDO_0019721 |