FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Wolf-Hirschhorn syndrome ID (Ontology) DOID:0050460 (Human Disease)
Definition A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.
Also Known As "4p deletion syndrome" ; "chromosome 4p16.3 deletion syndrome" ; "PITT SYNDROME" (for all, see Synonyms field below)
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DO.org
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 Wolf-Hirschhorn syndrome       1      1
 model of | Wolf-Hirschhorn syndrome       1       --
Spanning Tree (Parents/Children)
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__Wolf-Hirschhorn syndrome  2 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "4p deletion syndrome" EXACT
    "chromosome 4p16.3 deletion syndrome" EXACT
    "PITT SYNDROME" EXACT
    "Pitt-Rogers-Danks Syndrome" EXACT
Secondary IDs
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GARD:7896
ICD10CM:Q93.3
MESH:D054877
MIM:194190
NCI:C35528
ORDO:280
SNOMEDCT_US_2023_03_01:17122004
UMLS_CUI:C0796117
UMLS_CUI:C1956097