Methylmalonic acidemia

Property	Value
rdf:type	Disorder included in newborn screening programs ICD-9 code 240–279: endocrine, nutritional and metabolic diseases, and immunity disorders owl:NamedIndividual Rare disease Amino acid metabolism disorder Autosomal recessive disorder Cause of hypoglycemia
rdfs:label	Methylmalonic acidemia
owl:sameAs	dbr:Methylmalonic_acidemia
prov:wasDerivedFrom	http://en.wikipedia.org/wiki/Imerslund%E2%80%93Gr%C3%A4sbeck_syndrome http://en.wikipedia.org/wiki/Category:Rare_diseases http://en.wikipedia.org/wiki/List_of_diseases_(M) http://en.wikipedia.org/wiki/List_of_diseases_(V) http://en.wikipedia.org/wiki/Chromosome_6 http://en.wikipedia.org/wiki/Congenital_disorders_of_amino_acid_metabolism http://en.wikipedia.org/wiki/List_of_ICD-9_codes_240%E2%80%93279:_endocrine,_nutritional_and_metabolic_diseases,_and_immunity_disorders http://en.wikipedia.org/wiki/List_of_disorders_included_in_newborn_screening_programs http://en.wikipedia.org/wiki/Hyperammonemia http://en.wikipedia.org/wiki/List_of_causes_of_hypoglycemia http://en.wikipedia.org/wiki/Category:Amino_acid_metabolism_disorders http://en.wikipedia.org/wiki/Category:Autosomal_recessive_disorders http://en.wikipedia.org/wiki/Hypotonia http://en.wikipedia.org/wiki/Chromosome_12 http://en.wikipedia.org/wiki/Chromosome_4
skos:prefLabel	Methylmalonic acidemia
skos:altLabel	Methylmalonic aciduria, cblA and cblB forms Vitamin B12 responsive methylmalonicaciduria methylmalonic acidemia methylmalonic aciduria methylmalonyl-CoA acidosis methymalonyl-CoA epimerase deficiency Methylmalonicaciduria, vitamin B12 unresponsive, mut-0
clgo:diseasesDB	29509
clgo:eMedicineSubject	neuro
clgo:eMedicineTopic	576
clgo:icd10	E71.1
clgo:icd9	270.3
clgo:medlinePlus	001162
clgo:omim	251000

About: clgr:Methylmalonic_acidemia