X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Disease ID: disease_node_19235
Connections displayed (default: 10).
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| Dbxref | MIM:300886, ORDO:324410 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | MRXS32, mental retardation, X-linked, syndromic 32 |
| Doid Label | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome |
| Doid Description | A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. |
| Has Symptom | SYMP_0000292 |
| Disease Node Id | disease_node_19235 |
| Doid Id | DOID_0060828 |
| Label | X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Heart Failure(ID:disease_node_3725;disease_node_21132) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)