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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:autosomal dominant cutis laxa
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Accession:DOID:0070142 term browser browse the term
Definition:A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. (DO)
Synonyms:exact_synonym: ADCL;   dominant cutis laxa
 primary_id: MESH:C562627
 xref: ORDO:90348
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal dominant cutis laxa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Cutis Laxa, Dominant
ClinVar Annotator: match by term: Cutis laxa, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11175284 PMID:12555228 PMID:16894468 PMID:19029017 PMID:24033266 More... NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fbln5 fibulin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
autosomal dominant cutis laxa 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eln elastin ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 ClinVar
OMIM
PMID:5046633 PMID:7884000 PMID:8091333 PMID:9215670 PMID:9215671 More... NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 ClinVar PMID:12618961 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
autosomal dominant cutis laxa 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 2
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:12618961 PMID:25741868 NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755
JBrowse link
autosomal dominant cutis laxa 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3 OMIM
ClinVar
PMID:8779323 PMID:9536098 PMID:9643297 PMID:17576681 PMID:21739576 More... NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    sensory system disease 5611
      skin disease 2954
        cutis laxa 45
          autosomal dominant cutis laxa 3
            autosomal dominant cutis laxa 1 2
            autosomal dominant cutis laxa 2 1
            autosomal dominant cutis laxa 3 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          skin disease 2954
            Genetic Skin Diseases 1046
              cutis laxa 45
                autosomal dominant cutis laxa 3
                  autosomal dominant cutis laxa 1 2
                  autosomal dominant cutis laxa 2 1
                  autosomal dominant cutis laxa 3 1
paths to the root