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

• GARD:118
• MESH:C536937
• OMIM:181450
• ORDO:3138
• SNOMEDCT_US_2023_03_01:700211007
• UMLS_CUI:C1866994

Ontology

Human Disease   ( DOID:0060614 )