loading...| Preferred Name | Noonan syndrome | |
| Synonyms |
Turner's phenotype, karyotype normal |
|
| Definitions |
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_3490 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Turner's phenotype, karyotype normal |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:88327006 ICD10CM:Q87.19 MIM:PS163950 MESH:D009634 UMLS_CUI:C0028326 GARD:10955 NCI:C34854 ORDO:648 |
|
| definition |
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. OMIM mapping confirmed by DO. [SN]. |
|
| disease has basis in | ||
| has exact synonym |
Turner's phenotype, karyotype normal |
|
| has symptom | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3490 |
|
| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
|
| label |
Noonan syndrome |
|
| notation |
DOID:3490 |
|
| note |
A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
Noonan syndrome |
|
| prefLabel |
Noonan syndrome |
|
| subClassOf |