Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:linear skin defects with multiple congenital anomalies 3
go back to main search page
Accession:DOID:0111876 term browser browse the term
Definition:A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in NDUFB11 on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: LSDMCA3;   linear skin defects with cardiomyopathy and other congenital anomalies
 primary_id: OMIM:300952
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
linear skin defects with multiple congenital anomalies 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufb11 NADH:ubiquinone oxidoreductase subunit B11 ISO ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 OMIM
ClinVar
PMID:25741868, PMID:25772934 NCBI chr  X:1,787,266...1,789,524
Ensembl chr  X:1,787,266...1,789,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      MLS syndrome 3
        linear skin defects with multiple congenital anomalies 3 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          skin disease 2758
            Skin Abnormalities 658
              MLS syndrome 3
                linear skin defects with multiple congenital anomalies 3 1
paths to the root

NHLBI Logo

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