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Human Disease

ulnar-mammary syndrome

Term ID
DOID:0060614
Synonyms
  • Pallister ulnar-mammary syndrome
  • Schinzel syndrome
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. (2)
References
Ontology
Human Disease   ( DOID:0060614 )
Relationships
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Genes Involved
Zebrafish Models