FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Pfeiffer syndrome ID (Ontology) DOID:14705 (Human Disease)
Definition An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull.
Also Known As "acrocephalosyndactylia type V"
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 Genes
 Pfeiffer syndrome       2
 for disease ribbon | Pfeiffer syndrome       2
 model of | Pfeiffer syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
synostosis                      |
 |__acrocephalosyndactylia______|
                                Pfeiffer syndrome  2 rec.
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Is a autosomal dominant disease
acrocephalosyndactylia
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Synonyms
  • "acrocephalosyndactylia type V" EXACT
Secondary IDs
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GARD:7380
MESH:D000168
MIM:101600
NCI:C99100
ORDO:710
SNOMEDCT_US_2023_03_01:70410008
UMLS_CUI:C0220658