Search Ontology:
Human Disease
Pfeiffer syndrome
- Term ID
- DOID:14705
- Synonyms
-
- acrocephalosyndactylia type V
- Definition
- An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. (4)
- References
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- GARD:7380
- MESH:D000168
- MIM:101600
- NCI:C99100
- ORDO:710
- SNOMEDCT_US_2023_03_01:70410008
- UMLS_CUI:C0220658
- Ontology
- Human Disease ( DOID:14705 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models