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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
 alt_id: OMIM:247100
 xref: GARD:3268;   NCI:C84829
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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		 PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 More... NCBI chr17:59,696,125...59,701,990
Ensembl chr17:59,696,477...59,701,744 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        lipid metabolism disorder 1570
          lipoid proteinosis 1
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            Otorhinolaryngologic Diseases 1672
              laryngeal disease 65
                Voice Disorders 4
                  Hoarseness 3
                    lipoid proteinosis 1
paths to the root