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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:Limb-Mammary Syndrome
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Accession:DOID:9002385 term browser browse the term
Synonyms:exact_synonym: LMS;   mammary hypoplasia, ectrodactyly, and other hand-foot anomalies
 primary_id: MESH:C535903
 alt_id: OMIM:603543
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Limb-Mammary Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
DNA:deletions:exon:1693_1694delTT, 1860_1861delAA (human)
ClinVar Annotator: match by term: Limb-mammary syndrome
OMIM
CTD
ClinVar
RGD
PMID:9774969 PMID:11462173 PMID:18627043 PMID:25741868 PMID:11462173 RGD:11568638 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Limb-Mammary Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Musculoskeletal Abnormalities 2678
            Congenital Limb Deformities 588
              Limb-Mammary Syndrome 1
paths to the root