Larsen-Like Syndrome B3Gat3 Type
Disease ID: disease_node_20330
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:245600, ORDO:284139 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Larsen-like syndrome, B3GAT3 type, multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome |
| Doid Label | Larsen-like syndrome B3GAT3 type |
| Doid Description | A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20330 |
| Doid Id | DOID_0080575 |
| Label | Larsen-Like Syndrome B3Gat3 Type |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)