Noonan Syndrome
Disease ID: disease_node_5622
Connections displayed (default: 10).
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| Dbxref | GARD:10955, ICD10CM:Q87.19, MESH:D009634, MIM:PS163950, NCI:C34854, ORDO:648, SNOMEDCT_US_2023_03_01:88327006, UMLS_CUI:C0028326 |
|---|---|
| Subclassof | DOID_0080690, DOID_0050177 |
| Data Source | DOID, MESH |
| Synonyms | Turner's phenotype, karyotype normal |
| Mesh Id | D009634 |
| Mesh Label | Noonan Syndrome |
| Mesh Subclassof | D003240, D006330, D019465 |
| Doid Label | Noo syndrome |
| Doid Description | 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]. |
| Has Symptom | SYMP_0000007, SYMP_0000568 |
| Disease Node Id | disease_node_5622 |
| Doid Id | DOID_3490 |
| Disease Has Basis In | SO_0000704 |
| Label | Noonan Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Short Stature(ID:disease_node_21459) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Bleeding(ID:disease_node_21108) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome 13(ID:disease_node_19049) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome 10(ID:disease_node_19050) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome 11(ID:disease_node_19048) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Rasopathy(ID:disease_node_19055) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome 12(ID:disease_node_19047) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Monogenic Disease(ID:disease_node_13650) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome 7(ID:disease_node_19053) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome 9(ID:disease_node_19051) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome 1(ID:disease_node_19054) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Noo Syndrome 8(ID:disease_node_19052) (Disease)