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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 OMIM:247100
ClinVar Annotator: match by term: Lipid proteinosis
OMIM
ClinVar
PMID:11929856, PMID:12472532, PMID:12603844, PMID:16172042, PMID:17063986, PMID:17199583, PMID:17927570, PMID:24708644, PMID:25529926, PMID:25741868, PMID:11929856 RGD:734912 NCBI chr 2:197,855,468...197,860,973
Ensembl chr 2:197,855,460...197,860,699
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16042
    Nutritional and Metabolic Diseases 4730
      disease of metabolism 4730
        lipid metabolism disorder 899
          lipoid proteinosis 1
Path 2
Term Annotations click to browse term
  disease 16042
    disease of anatomical entity 15294
      nervous system disease 10900
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            laryngeal disease 67
              Voice Disorders 5
                Hoarseness 3
                  lipoid proteinosis 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.