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ulnar-mammary syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.
Uniprot Description Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008411:  ulnar-mammary syndrome
GARD:0000118: 
MESH:C536937: 
Orphanet:3138: 
SCTID:700211007: 
UMLS:C1866994: