Raynaud-Claes Syndrome
Disease ID: disease_node_13589
Connections displayed (default: 10).
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| Dbxref | MIM:300114 |
|---|---|
| Subclassof | DOID_0060309, DOID_0080009 |
| Data Source | DOID |
| Synonyms | MRX15, MRX49, MRXSRC, X-linked mental retardation 15, X-linked mental retardation 49 |
| Doid Label | Raynaud-Claes syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including, behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_13589 |
| Doid Id | DOID_0112060 |
| Label | Raynaud-Claes Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Domit Disease(ID:disease_node_13587) (Disease)