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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 recessive cutis laxa type III
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Accession:DOID:0070143 term browser browse the term
Definition:A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. (DO)
Synonyms:exact_synonym: De Barsy Moens Diercks syndrome;   De Barsy syndrome;   corneal clouding, cutis laxa, mental retardation;   cutis laxa, corneal clouding, and mental retardation;   cutis laxa-corneal clouding-intellectual disability syndrome;   progeroid syndrome of De Barsy
 primary_id: MESH:C535990
 xref: GARD:49;   ORDO:2962
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive cutis laxa type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:deletions:cds:
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
ClinVar Annotator: match by term: Progeroid syndrome of De Barsy | ClinVar Annotator: match by term: de Barsy syndrome
ClinVar
RGD
PMID:8779323 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21739576 More... RGD:13434922, RGD:13434923 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 ISO DNA:mutations:cds:c.2246G>A(p.R749Q),c.2294G>A(p.R765Q)(human)
ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A
ClinVar
OMIM
RGD
PMID:8779323 PMID:9536098 PMID:11092761 PMID:16199547 PMID:17576681 More... RGD:13439710 NCBI chr 1:239,375,657...239,407,967
Ensembl chr 1:239,375,669...239,407,890
JBrowse link
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr1 pyrroline-5-carboxylate reductase 1 ISO ClinVar Annotator: match by term: DE BARSY SYNDROME B OMIM
ClinVar
PMID:4076251 PMID:16233902 PMID:18348262 PMID:19648921 PMID:21567914 More... NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      autosomal recessive cutis laxa type III 2
        autosomal recessive cutis laxa type IIIA 1
        autosomal recessive cutis laxa type IIIB 1
Path 2
Term Annotations click to browse term
  disease 18256
    disease of anatomical entity 17617
      nervous system disease 13267
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Genetic Skin Diseases 1583
                cutis laxa 46
                  Autosomal Recessive Cutis Laxa 36
                    autosomal recessive cutis laxa type III 2
                      autosomal recessive cutis laxa type IIIA 1
                      autosomal recessive cutis laxa type IIIB 1
paths to the root