created | [InstanceEdit:2011839] Rothfels, K, 2011-11-22 |
databaseName | DOID |
dbId | 2011836 |
definition | An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
displayName | Pfeiffer syndrome |
identifier | 14705 |
name |
|
referenceDatabase | [ReferenceDatabase:1247631] DOID |
schemaClass | Disease |
synonym |
|
url | https://www.ebi.ac.uk/ols/ontologies/doid/terms?obo_id=DOID:14705 |
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