ulnar-mammary syndrome (DOID:0060614)
Alliance: disease page
Synonyms: Pallister ulnar-mammary syndrome; Schinzel syndrome
Alt IDs: OMIM:181450, MESH:C536937, ORDO:3138, UMLS_CUI:C1866994
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.