FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive cutis laxa type III
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal recessive cutis laxa type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
RGD:13434922
RGD:13434923
autosomal recessive cutis laxa type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:13439710
RGD:8554872
RGD:7240710
autosomal recessive cutis laxa type IIIB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr1 pyrroline-5-carboxylate reductase 1 JBrowse link 10 109,817,300 109,822,218 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      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 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    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