Noo Syndrome 13
Disease ID: disease_node_19049
Connections displayed (default: 10).
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| Dbxref | MIM:619087 |
|---|---|
| Subclassof | DOID_0050736, DOID_3490 |
| Data Source | DOID |
| Synonyms | NS13 |
| Doid Label | Noo syndrome 13 |
| Doid Description | A Noo syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19049 |
| Doid Id | DOID_0112161 |
| Label | Noo Syndrome 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Noonan Syndrome(ID:disease_node_5622) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)