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Summary Literature (1)
DOID:0060614 - ulnar-mammary syndrome


Disease Ontology 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.

Synonyms: Pallister ulnar-mammary syndrome, Schinzel syndrome

Referenced OMIM:
OMIM:181450 - ULNAR-MAMMARY SYNDROME; UMS

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tbx3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)


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