Disease Index

9,486 diseases
metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
MeSH: C565396
metaphyseal dysplasia without hypotrichosis
human disease
MeSH: C563574
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
metaphyseal dysplasia, Braun-Tinschert type
MeSH: C565271
Metaphyseal dysplasia, Pyle type
human disease
MeSH: C536252
metatropic dysplasia
metatropic dwarfism
MeSH: C537356
methanol poisoning
hazardous chemical exposure
methemoglobinemia due to deficiency of methemoglobin reductase
human disease
methimazole embryofetopathy
Methotrexate-associated lymphoproliferative disorders
human disease
methylcobalamin deficiency type cblDv1
human disease
methylcobalamin deficiency type cblE
human disease
MeSH: C565510
methylcobalamin deficiency type cblG
methylenetetrahydrofolate reductase deficiency
medical condition
methylmalonic acidemia
organic acidemia that involves an accumulation of methylmalonic acid in the blood
ICD: E71.1
methylmalonic acidemia cblA type
Human disease
MeSH: C537360
methylmalonic acidemia cblB type
Human disease
MeSH: C537361
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
MeSH: C565386
methylmalonic acidemia due to transcobalamin receptor defect
methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has material basis in mutation in the CD320 gene
methylmalonic acidemia with homocystinuria
MeSH: C537359
methylmalonic acidemia with homocystinuria, type cblJ
human disease
methylmalonic acidemia with homocystinuria, type cblX
human disease
MeSH: C563136
methylmalonic acidemia without homocystinuria
Methylmalonic acidemia is an inborn error of vitamin B12 metabolism characterized by gastrointestinal and neurometabolic manifestations resulting from decreased function of the mitochondrial enzyme methylmalonyl-CoA mutase
methylmalonic aciduria and homocystinuria type cblC
Human disease
methylmalonic aciduria and homocystinuria type cblD
methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities
methylmalonic aciduria and homocystinuria type cblF
methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl)
MeSH: C564747
methylmalonyl-CoA mutase deficiency
methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has material basis in mutation in the MUT gene on chromosome 6p12.3
mevalonic aciduria
Human disease
MeSH: D054078
Meyer dysplasia
Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis
Page 189 of 317 (9,486 total)