About: Stimmler syndrome

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al. in 1970. It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine.

Property	Value
dbo:abstract	Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al. in 1970. It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine. (en)
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dbo:orpha	3199
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dbo:wikiPageWikiLink	dbr:Pyruvic_acid dbr:Alanine dbc:Genetic_diseases_and_disorders dbc:Rare_diseases dbc:Syndromes dbr:Lactic_acid dbr:Diabetes_mellitus dbr:Microcephaly dbr:Congenital_disorder
dbp:caption	Stimmler syndrome is inherited in an autosomal recessive manner (en)
dbp:icd	none (en)
dbp:name	Stimmler syndrome (en)
dbp:omim	202900 (xsd:integer)
dbp:orphanet	3199 (xsd:integer)
dbp:synonyms	Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus (en)
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rdf:type	owl:Thing wikidata:Q12136 yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders dbo:Disease yago:State100024720
rdfs:comment	Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al. in 1970. It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine. (en)
rdfs:label	Stimmler syndrome (en)
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foaf:name	Stimmler syndrome (en)
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