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DO Term : ulnar-mammary syndrome [DOID:0060614] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C536937,
  • SNOMEDCT_US_2023_03_01:700211007,
  • ORDO:3138,
  • 181450,
  • GARD:118,
  • UMLS_CUI:C1866994,
  • Schinzel syndrome,
  • OMIM:181450,
  • Pallister ulnar-mammary syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents