FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Rubinstein-Taybi syndrome ID (Ontology) DOID:1933 (Human Disease)
Definition A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes.
Also Known As "Broad Thumb-Hallux syndrome" ; "proximal chromosome 16p13.3 deletion syndrome" ; "Rubinstein syndrome"
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       2
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 Alleles Genes
 Rubinstein-Taybi syndrome       2      2
 for disease ribbon | Rubinstein-Taybi syndrome       --       1
 model of | Rubinstein-Taybi syndrome       2      1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
chromosomal disease                |
 |__chromosomal deletion syndrome__|
disease                            |
 |__syndrome_______________________|
                                   Rubinstein-Taybi syndrome  4 rec.
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Is a autosomal dominant disease
chromosomal deletion syndrome
syndrome
Part of
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Synonyms
  • "Broad Thumb-Hallux syndrome" EXACT
    "proximal chromosome 16p13.3 deletion syndrome" EXACT
    "Rubinstein syndrome" EXACT
Secondary IDs
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GARD:7593
ICD10CM:Q87.2
MESH:D012415
MIM:180849
MIM:610543
MIM:613684
NCI:C75466
ORDO:783
SNOMEDCT_US_2023_03_01:157032007
UMLS_CUI:C0035934