Kinsship Syndrome
Disease ID: disease_node_19994
Connections displayed (default: 10).
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| Dbxref | MIM:619297 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | AFF3-related mesomelic dysplasia, KINS, Steichen-Gersdorf type mesomelic dysplasia |
| Doid Label | KINSSHIP syndrome |
| Doid Description | A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_19994 |
| Doid Id | DOID_0112383 |
| Label | Kinsship Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)