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Echinobase
Summary Literature (0)
DOID:0060614 - ulnar-mammary syndrome

Disease Ontology Definition:A syndrome that has_material_basis_in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies.

Synonyms: Pallister ulnar-mammary syndrome, Schinzel syndrome,

Echinobase Genes :


OMIM:
MIM:181450 - ulnar-mammary syndrome; ums

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a)