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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
ulnar-mammary syndrome
Summary
- Synonym
-
- Pallister ulnar-mammary syndrome
- Schinzel 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0060614
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
