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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 IIIB
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Accession:DOID:0070138 term browser browse the term
Definition:An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: ARCL3B;   De Barsy syndrome B
 broad_synonym: PYCR1-RELATED CONDITION
 primary_id: OMIM:614438


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar Annotator: match by term: DE BARSY SYNDROME B | ClinVar Annotator: match by term: PYCR1-related condition		 OMIM
CTD
ClinVar		 PMID:4076251 PMID:9536098 PMID:16233902 PMID:17576681 PMID:18348262 More... NCBI chr11:120,527,591...120,534,602
Ensembl chr11:120,526,538...120,534,595 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    syndrome 10342
      autosomal recessive cutis laxa type III 2
        autosomal recessive cutis laxa type IIIB 1
Path 2
Term Annotations click to browse term
  disease 18297
    disease of anatomical entity 15629
      nervous system disease 13500
        Neurologic Manifestations 9793
          sensory system disease 6754
            skin disease 3831
              Genetic Skin Diseases 1846
                cutis laxa 46
                  Autosomal Recessive Cutis Laxa 36
                    autosomal recessive cutis laxa type III 2
                      autosomal recessive cutis laxa type IIIB 1
paths to the root