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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
 alt_id: RDO:0001387
 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 PMID:28492532, PMID:24913064, PMID:26320891 RGD:13434922, RGD:13434923 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
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
PMID:8779323, PMID:11092761, PMID:18478038, PMID:21739576, PMID:24767728, PMID:24913064, PMID:25326637, PMID:25741868, PMID:26026163, PMID:26297558, PMID:26320891, PMID:28492532, PMID:25077174 RGD:13439710 NCBI chr 1:259,641,673...259,674,521
Ensembl chr 1:259,641,676...259,674,425
Ensembl chr 1:259,641,676...259,674,425
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
ClinVar Annotator: match by OMIM:614438
OMIM
ClinVar
PMID:4076251, PMID:18348262, PMID:19648921, PMID:22052856, PMID:25741868 NCBI chr10:109,817,300...109,822,218
Ensembl chr10:109,818,177...109,821,807
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      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 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              developmental disorder of mental health 3113
                specific developmental disorder 2287
                  intellectual disability 2107
                    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

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