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FNS-Harmony
Last uploaded:
November 2, 2023
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| Preferred Name | Pfeiffer syndrome | |
| Synonyms |
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| Definitions |
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14705 |
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| definition |
An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
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| imported from | ||
| label |
Pfeiffer syndrome
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| prefixIRI |
DOID:14705
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| prefLabel |
Pfeiffer syndrome
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| subClassOf |
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