Chromosome 17Q12 Deletion Syndrome
Disease ID: disease_node_17107
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| Dbxref | GARD:13297, ICD10CM:Q93.5, MIM:614527, ORDO:261265 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060388 |
| Data Source | DOID |
| Synonyms | 17q12 microdeletion syndrome |
| Doid Label | chromosome 17q12 deletion syndrome |
| Doid Description | A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17107 |
| Doid Id | DOID_0060404 |
| Label | Chromosome 17Q12 Deletion Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)