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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:linear skin defects with multiple congenital anomalies 3
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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 the NDUFB11 gene on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: LSDMCA3;   linear skin defects with cardiomyopathy and other congenital anomalies
 xref: MIM:300952;   MONDO:0010494



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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 CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Linear skin defects with multiple congenital anomalies 3 OMIM
ClinVar
PMID:25741868 PMID:25772934 PMID:26741492 PMID:27488349 PMID:28050600 More... NCBI chr  X:1,572,805...1,575,063
Ensembl chr  X:1,572,785...1,575,062
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    physical disorder 5192
      MLS syndrome 4
        linear skin defects with multiple congenital anomalies 3 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              Skin Abnormalities 1321
                MLS syndrome 4
                  linear skin defects with multiple congenital anomalies 3 1
paths to the root