FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ulnar-mammary syndrome ID (Ontology) DOID:0060614 (Human Disease)
Definition A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene.
Also Known As "Pallister ulnar-mammary syndrome" ; "Schinzel syndrome"
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DO.org
Annotations
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       5
Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 ulnar-mammary syndrome       5      2      1
 for disease ribbon | ulnar-mammary syndrome       --       1       --
 model of | ulnar-mammary syndrome       5      1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                ulnar-mammary syndrome  8 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Pallister ulnar-mammary syndrome" EXACT
    "Schinzel syndrome" EXACT
Secondary IDs
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GARD:118
MESH:C536937
MIM:181450
ORDO:3138
SNOMEDCT_US_2023_03_01:700211007
UMLS_CUI:C1866994