ulnar-mammary syndrome

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tbx3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008411 - ulnar-mammary syndrome

MONDO:0008411 - ulnar-mammary syndrome

OMIM:

OMIM:181450 - ULNAR-MAMMARY SYNDROME; UMS

OMIM: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): autosomal dominant disease (is_a), syndrome (is_a)