Syndromic X-Linked Intellectual Developmental Disorder Bain Type
Disease ID: disease_node_13604
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| Dbxref | GARD:13442, MIM:300986, NCI:C183311, UMLS_CUI:C4310814 |
|---|---|
| Subclassof | DOID_0060309 |
| Data Source | DOID |
| Synonyms | HNRNPH2-RNDD, HNRNPH2-related neurodevelopmental disorder, MRXSB, Mental Retardation, X-linked, Syndrome, Bain Type |
| Doid Label | syndromic X-linked intellectual developmental disorder bain type |
| Doid Description | A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. |
| Disease Node Id | disease_node_13604 |
| Doid Id | DOID_0070538 |
| Label | Syndromic X-Linked Intellectual Developmental Disorder Bain Type |
- Outgoing r'ship
SUBCLASS_OFto/from Syndromic X-Linked Intellectual Disability(ID:disease_node_13590) (Disease)