FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term SADDAN ID (Ontology) DOID:0111158 (Human Disease)
Definition 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.
Also Known As "SADDAN dysplasia" ; "severe achondroplasia with developmental delay and acanthosis nigricans"
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 Genes
 SADDAN       1
 for disease ribbon | SADDAN       1
 model of | SADDAN       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                SADDAN  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "SADDAN dysplasia" EXACT
    "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT
Secondary IDs
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GARD:9443
MESH:D000130
MIM:616482
ORDO:85165
SNOMEDCT_US_2023_03_01:699870002
UMLS_CUI:C2674173