ONTOLOGY REPORT - ANNOTATIONS


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
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lipoid proteinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ecm1 extracellular matrix protein 1 JBrowse link 2 197,855,468 197,860,973 RGD:734912
RGD:7240710
RGD:8554872

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Path 1
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  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        lipid metabolism disorder 721
          lipoid proteinosis 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          Otorhinolaryngologic Diseases 1038
            laryngeal disease 35
              Voice Disorders 3
                Hoarseness 2
                  lipoid proteinosis 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.