Paganini-Miozzo Syndrome
Disease ID: disease_node_19233
Connections displayed (default: 10).
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| Dbxref | MIM:301025 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRXSPM |
| Doid Label | Paganini-Miozzo syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_19233 |
| Doid Id | DOID_0111843 |
| Label | Paganini-Miozzo Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)