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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: OMIM:613177
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by OMIM:613177
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
OMIM
ClinVar
PMID:19836010, PMID:22829427, PMID:23440719, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:84,118,046...84,152,095
Ensembl chr 1:84,118,046...84,150,084
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      respiratory system disease 2733
        autosomal recessive cutis laxa type IC 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          skin disease 2749
            Genetic Skin Diseases 887
              cutis laxa 41
                Autosomal Recessive Cutis Laxa 34
                  autosomal recessive cutis laxa type I 28
                    autosomal recessive cutis laxa type IC 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.