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Disease Ontology Browser
ulnar-mammary syndrome (DOID:0060614)
Synonyms: Pallister ulnar-mammary syndrome; Schinzel syndrome
Alt IDs: OMIM:181450, ICD10CM:Q71.8, MESH:C536937, ORDO:3138, UMLS_CUI:C1866994
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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/16/2017
MGI 6.09
The Jackson Laboratory