WormBase Tree Display for DO_term: DOID:0112060
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| DOID:0112060 | Name | Raynaud-Claes syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | MRX15 | |||
| MRX49 | |||||
| MRXSRC | |||||
| X-linked mental retardation 15 | |||||
| X-linked mental retardation 49 | |||||
| Parent | Is_a | DOID:0060309 | |||
| DOID:0080009 | |||||
| DB_info | Database | OMIM | disease | 300114 | |
| Attribute_of | Gene_by_orthology | WBGene00000532 |
