Achondroplasia
Disease ID: disease_node_920
Connections displayed (default: 10).
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| Dbxref | GARD:9443, MESH:D000130, MIM:616482, ORDO:85165, SNOMEDCT_US_2023_03_01:699870002, UMLS_CUI:C2674173 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | SADDAN dysplasia, severe achondroplasia with developmental delay and acanthosis nigricans |
| Mesh Id | D000130 |
| Mesh Label | Achondroplasia |
| Mesh Subclassof | D004392, D010009 |
| Doid Label | SADDAN |
| Doid Description | A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_920 |
| Doid Id | DOID_0111158 |
| Label | Achondroplasia |
- 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)