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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:ulnar-mammary syndrome
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Accession:DOID:0060614 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Pallister ulnar-mammary syndrome;   Schinzel syndrome;   TBX3-RELATED CONDITION;   UMS;   ulnar-mammary syndrome of Pallister
 primary_id: MESH:C536937
 alt_id: MIM:181450
 xref: GARD:118;   ORDO:3138



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ulnar-mammary syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx3 T-box transcription factor 3 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:181450
ClinVar Annotator: match by term: TBX3-related condition | ClinVar Annotator: match by term: Ulnar-mammary syndrome
OMIM
CTD
MouseDO
ClinVar
PMID:1993809 PMID:9207801 PMID:9536098 PMID:12116211 PMID:12668170 More... NCBI chr12:36,879,924...36,894,849
Ensembl chr12:36,881,445...36,893,708
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      ulnar-mammary syndrome 1
Path 2
Term Annotations click to browse term
  disease 19076
    Developmental Disease 14561
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13608
        genetic disease 13283
          monogenic disease 10664
            autosomal genetic disease 9837
              autosomal dominant disease 6521
                ulnar-mammary syndrome 1
paths to the root