| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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mixed gonadal dysgenesis
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A gonadal dysgenesis that is characterized by prog.. [+]A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis.
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malignant cardiac peripheral nerve sheath neoplasm
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MPNST of Heart
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n_a
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malignant cardiac germ cell tumor
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malignant germ cell tumour of the Heart; malignant..
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malignant germ cell tumour of the Heart; malignant cardiac germ cell tumour; malignant germ cell tumor of the Heart
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n_a
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multiple intestinal atresia
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Multiple gastrointestinal atresias; MEDDRA:1002821..
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Multiple gastrointestinal atresias; MEDDRA:10028210; Multiple gastrointestinal atresias (disorder); familial intestinal polyatresia syndrome; GIDID; gastrointestinal defects and immunodeficiency syndrome
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An intestinal disease characterized by the presenc.. [+]An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21.
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methylmalonic acidemia
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METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE..
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METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B; METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A; METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE; METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE; METHYLMALONIC ACIDURIA, mut TYPE; methylmalonic aciduria type cblB; methylmalonic aciduria type cblA; METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY; methylmalonic aciduria cblB type; methylmalonic aciduria; METHYLMALONIC ACIDEMIA, cblB TYPE; METHYLMALONIC ACIDEMIA, cblA TYPE; METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency; methylmalonic aciduria mut type
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An organic acidemia that involves an accumulation .. [+]An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
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melphalan allergy
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Alkeran allergy
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A drug allergy that has_allergic_trigger melphalan.. [+]A drug allergy that has_allergic_trigger melphalan.
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mineral metabolism disease
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An acquired metabolic disease that is characterize.. [+]An acquired metabolic disease that is characterized by abnormal mineral metabolism.
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6 articles
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motility-related diarrhea
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A diarrhea which is caused by the rapid movement o.. [+]A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed.
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monogenic disease
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A genetic disease that is the result of one or mor.. [+]A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele).
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295 articles
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213 matches
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mesocestoidiasis
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A parasitic helminthiasis infectious disease that .. [+]A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting.
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multiple endocrine neoplasia type 2A
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multiple endocrine neoplasia II; MEN2A; Sipple syn..
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MEN2A; multiple endocrine neoplasia II; Sipple syndrome
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A multiple endocrine neoplasia characterized by me.. [+]A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis.
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mulibrey nanism
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MUL; Mulibrey growth disorder; Muscle-Liver-Brain-..
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Mulibrey growth disorder; MUL; Muscle-Liver-Brain-Eye Nanism; Perheentupa Syndrome; PERICARDIAL CONSTRICTION AND GROWTH FAILURE
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A syndrome that is characterized by global growth .. [+]A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene.
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mucosulfatidosis
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multiple sulfatase deficiency disease; Sulfatidosi..
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multiple sulfatase deficiency disease; Sulfatidosis, Juvenile, Austin Type
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A sphingolipidosis that is characterized by leukod.. [+]A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes.
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mevalonic aciduria
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Mevalonate Kinase Deficiency
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A peroxisomal disease that is characterized by cor.. [+]A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis.
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Muir-Torre syndrome
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A Lynch syndrome that is characterized by a propen.. [+]A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
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monilethrix
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A hair disease that is characterized by short, eas.. [+]A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
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multinodular goiter
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A goiter characterized by a multinodular enlargeme.. [+]A goiter characterized by a multinodular enlargement of the thyroid gland.
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meningovascular neurosyphilis
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A tertiary neurosyphilis that results in inflammat.. [+]A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries.
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maturity-onset diabetes of the young
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Mason-type diabetes; MODY
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A diabetes mellitus that has_material_basis_in aut.. [+]A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
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3 articles
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muscular dystrophy-dystroglycanopathy type B1
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Muscular dystrophy-dystroglycanopathy congenital w..
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Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1; CMD due to dystroglycanopathy
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A congenital muscular dystrophy characterized by m.. [+]A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.
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