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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:lipoid proteinosis
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Accession:DOID:14498 term browser browse the term
Definition:An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.
Synonyms:exact_synonym: Lipoid Proteinosis of Urbach and Wiethe;   Lipoidproteinosis;   Lipoproteinosis;   Urbach Wiethe Disease;   Urbach Wiethe Lipoid Proteinosis;   Urbach-Wiethe syndrome;   hyalinosis cutis et mucosae;   lipid proteinosis
 primary_id: MESH:D008065;   RDO:0006015
 alt_id: OMIM:247100
 xref: GARD:3268;   NCI:C84829
For additional species annotation, visit the Alliance of Genome Resources.



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lipoid proteinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecm1 extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Lipid proteinosis OMIM
ClinVar
RGD
PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 More... RGD:734912 NCBI chr 2:183,287,491...183,292,729
Ensembl chr 2:183,287,322...183,292,671
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    Nutritional and Metabolic Diseases 6748
      disease of metabolism 6748
        lipid metabolism disorder 1148
          lipoid proteinosis 1
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        sensory system disease 6551
          Otorhinolaryngologic Diseases 1649
            laryngeal disease 69
              Voice Disorders 4
                Hoarseness 3
                  lipoid proteinosis 1
paths to the root