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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;   Urbach-Wiethe disease;   Urbach-Wiethe lipoid proteinosis;   Urbach-Wiethe syndrome;   hyalinosis cutis et mucosae;   lipid proteinosis;   lipoidproteinosis;   lipoproteinosis
 broad_synonym: ECM1-related condition
 xref: GARD:3268;   MESH:D008065;   MIM:247100;   MONDO:0009530;   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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ECM1-related condition | ClinVar Annotator: match by term: Lipid proteinosis 		OMIM
CTD
ClinVar
RGD		 PMID:11929856 PMID:12472532 PMID:12603844 PMID:15327549 PMID:16172042 More... RGD:734912 NCBI chr 2:185,976,439...185,981,656
Ensembl chr 2:185,976,440...185,981,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        lipid metabolism disorder 1908
          lipoid proteinosis 1
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            Otorhinolaryngologic Diseases 1809
              laryngeal disease 69
                Voice Disorders 4
                  Hoarseness 3
                    lipoid proteinosis 1
paths to the root