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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive cutis laxa type IC
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Accession:DOID:0070139 term browser browse the term
Definition:A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: ARCL1C;   URDS;   Urban-Rifkin-Davis syndrome;   autosomal recessive cutis laxa type 1C;   cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
 primary_id: MESH:C567716
 alt_id: OMIM:613177;   RDO:0015710
 xref: ORDO:221145
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive cutis laxa type IC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp4 latent transforming growth factor beta binding protein 4 JBrowse link 1 84,118,046 84,152,095 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      respiratory system disease 2410
        autosomal recessive cutis laxa type IC 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        sensory system disease 4666
          skin disease 2495
            Genetic Skin Diseases 763
              cutis laxa 42
                Autosomal Recessive Cutis Laxa 34
                  autosomal recessive cutis laxa type I 28
                    autosomal recessive cutis laxa type IC 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.