About   Help   FAQ
Disease Ontology Browser
ulnar-mammary syndrome (DOID:0060614)
Alliance: disease page
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
MGI 6.12
The Jackson Laboratory