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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 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: MIM:613177
 xref: ORDO:221145


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autosomal recessive cutis laxa type IC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 More... NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      gastrointestinal system disease 7176
        autosomal recessive cutis laxa type IC 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10419
          sensory system disease 7329
            skin disease 4309
              Genetic Skin Diseases 1879
                cutis laxa 48
                  Autosomal Recessive Cutis Laxa 37
                    autosomal recessive cutis laxa type I 30
                      autosomal recessive cutis laxa type IC 1
paths to the root