Bonnemann-Meinecke-Reich syndrome: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
Bonnemann-Meinecke-Reich syndrome is a rare syndrome having autosomal recessive type of inheritance. | Bonnemann-Meinecke-Reich syndrome is a rare syndrome having autosomal recessive type of inheritance. <ref name="urlOrphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal">{{cite web |url=http://bioportal.bioontology.org/ontologies/47296/?p=terms&conceptid=orpha%3Apat_id_1499 |title=Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal |format= |work= |accessdate=}}</ref> | ||
==Epidemiology and Demography== | |||
Prevalence of this disease is less than 1 per million.<ref name="urlOrphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal">{{cite web |url=http://bioportal.bioontology.org/ontologies/47296/?p=terms&conceptid=orpha%3Apat_id_1499 |title=Orphanet Ontology of Rare Diseases - Bonnemann-Meinecke-Reich syndrome - Terms | NCBO BioPortal |format= |work= |accessdate=}}</ref> | |||
==References== | ==References== |
Revision as of 13:19, 3 August 2012
Bonnemann-Meinecke-Reich syndrome | |
ICD-10 | G31.8 |
---|---|
OMIM | 225755 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Encephalopathy - intracerebral calcification - retinal degeneration
Overview
Bonnemann-Meinecke-Reich syndrome is a very rare syndrome characterized by calcium deposits in the brain tissue, deficiency of growth hormones and degeneration of the retina.
Pathophysiology
Genetics
Bonnemann-Meinecke-Reich syndrome is a rare syndrome having autosomal recessive type of inheritance. [1]
Epidemiology and Demography
Prevalence of this disease is less than 1 per million.[1]