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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;   UMS;   ulnar-mammary syndrome of Pallister
 primary_id: MESH:C536937
 alt_id: OMIM:181450;   RDO:0002665
 xref: GARD:118;   ORDO:3138
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:181450
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ulnar-mammary syndrome
OMIM
ClinVar
CTD
PMID:9207801 PMID:9536098 PMID:12116211 PMID:12668170 PMID:16896345 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 17205
    syndrome 8125
      ulnar-mammary syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                ulnar-mammary syndrome 1
paths to the root