Prieto Syndrome
Disease ID: disease_node_13617
Connections displayed (default: 10).
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| Dbxref | MIM:309610, ORDO:2958 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060309 |
| Data Source | DOID |
| Synonyms | Prieto-Badia-Mulas syndrome, X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome |
| Doid Label | Prieto syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13617 |
| Doid Id | DOID_0060805 |
| Label | Prieto 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)