Sandestig-Stefanova Syndrome
Disease ID: disease_node_20269
Connections displayed (default: 10).
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| Dbxref | MIM:618804 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Doid Label | Sandestig-Stefanova syndrome |
| Doid Description | A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. |
| Has Material Basis In | SO_0002054, GENO_0000148 |
| Disease Node Id | disease_node_20269 |
| Doid Id | DOID_0081272 |
| Disease Has Basis In | SO_0000704 |
| Label | Sandestig-Stefanova Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)