Nicolaides-Baraitser Syndrome
Disease ID: disease_node_20079
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| Dbxref | GARD:270, MIM:601358, ORDO:3051 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | Intellectual disability-sparse hair-brachydactyly syndrome, SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME |
| Doid Label | Nicolaides-Baraitser syndrome |
| Doid Description | A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20079 |
| Doid Id | DOID_0081441 |
| Label | Nicolaides-Baraitser Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)