ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive cutis laxa type IIB
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Accession:DOID:0070137 term browser browse the term
Definition:A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. (DO)
Synonyms:exact_synonym: ARCL2, progeroid type;   ARCL2B;   Cutis Laxa With Progeroid Features
 primary_id: MESH:C567855
 alt_id: OMIM:612940;   RDO:0015759
 xref: ORDO:357064
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autosomal recessive cutis laxa type IIB 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 14919
    sensory system disease 4264
      skin disease 2267
        cutis laxa 18
          Autosomal Recessive Cutis Laxa 10
            autosomal recessive cutis laxa type IIB 1
Path 2
Term Annotations click to browse term
  disease 14919
    disease of anatomical entity 14083
      nervous system disease 9147
        sensory system disease 4264
          skin disease 2267
            Genetic Skin Diseases 581
              cutis laxa 18
                Autosomal Recessive Cutis Laxa 10
                  autosomal recessive cutis laxa type IIB 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.