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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 ClinVar Annotator: match by null
CTD Direct Evidence: marker/mechanism
DNA:deletions:exon:1693_1694delTT, 1860_1861delAA (human)
OMIM
ClinVar
CTD
PMID:9774969, PMID:11462173, PMID:18627043, PMID:11462173 RGD:11568638 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Limb-Mammary Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Limb-Mammary Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.