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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


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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 | ClinVar Annotator: match by term: Mammary hypoplasia, ectrodactyly, and other hand/foot anomalies		 OMIM
CTD
ClinVar
RGD		 PMID:9536098 PMID:9774969 PMID:11462173 PMID:16740912 PMID:17576681 More... RGD:11568638 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      Limb-Mammary Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Limb-Mammary Syndrome 1
paths to the root