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Metadata
ID DOID:0060614
Name ulnar-mammary syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/8595424, https://www.ncbi.nlm.nih.gov/pubmed/8923944
Xrefs

GARD:118

MESH:C536937

OMIM:181450

ORDO:3138

UMLS_CUI:C1866994

Synonyms

Pallister ulnar-mammary syndrome [EXACT]

Schinzel syndrome [EXACT]

Parent Relationships

is_a syndrome

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