Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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midface dysplasia |
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An osteochondrodysplasia that is characterized by ..[+]
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mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 |
MC5DN1
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A mitochondrial complex V (ATP synthase) deficienc..[+]
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Meckel syndrome |
Meckel-Gruber syndrome
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A ciliopathy that is characterized by renal cystic..[+]
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multiple cutaneous and mucosal venous malformations |
mucocutaneous venous malformations; cutaneomucosal..
[+]
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A vein disease that is characterized by multiple b..[+]
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multiple synostoses syndrome |
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A dysostosis that is characterized by premature jo..[+]
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mucopolysaccharidosis IX |
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A mucopolysaccharidosis characterized by a deficie..[+]
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Matthew-Wood syndrome |
microphthalmia syndromic type 9; MCOPS9
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An autosomal genetic disease that is characterized..[+]
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multifocal dystonia |
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A dystonia that involves two or more unrelated bod..[+]
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Muckle-Wells syndrome |
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n_a
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Marshall-Smith syndrome |
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A syndrome that is characterized by advanced bone ..[+]
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medulloblastoma |
Medulloblastoma, histologically defined; brain med..
[+]
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An infratentorial cancer that is located_in the lo..[+]
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mixed extragonadal germ cell cancer |
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A mixed germ cell cancer that is located_in areas ..[+]
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myelodysplastic syndrome |
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A bone marrow cancer that is characterized by unde..[+]
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mucosal melanoma |
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A melanoma that has_material_basis_in melanocytes ..[+]
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MHC class I deficiency |
bare lymphocyte syndrome type I; BLS, TYPE I; BLSI..
[+]
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A severe combined immunodeficiency that is charact..[+]
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Munchausen by proxy |
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A factitious disorder that involves a care giver's..[+]
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male reproductive organ benign neoplasm |
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n_a
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musculoskeletal system benign neoplasm |
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An organ system benign neoplasm that is located_in..[+]
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musculoskeletal system cancer |
skeletal system cancer
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An organ system cancer located_in the muscular and..[+]
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mu chain disease |
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A heavy chain disease that results from an overpro..[+]
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mirror agnosia |
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An agnosia that is a loss of the ability to acknow..[+]
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microscopic colitis |
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A colitis that can only be diagnosed_by the examin..[+]
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Maffucci syndrome |
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A syndrome characterized by the presence of multip..[+]
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Mast syndrome |
autosomal recessive spastic paraplegia 21; autosom..
[+]
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A hereditary spastic paraplegia associated with de..[+]
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MASA syndrome |
CRASH syndrome; Gareis-Mason syndrome; hereditary ..
[+]
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A hereditary spastic paraplegia that is characteri..[+]
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megalocornea |
anterior megalophthalmos; congenital anterior mega..
[+]
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A corneal disease that is characterized by a bilat..[+]
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Meier-Gorlin syndrome |
ear-patella-short stature syndrome
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An autosomal recessive disorder characterized by s..[+]
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mastoiditis |
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A middle ear disease characterized by an inflammat..[+]
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myelomeningocele |
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A spina bifida characterized by protrusion of the ..[+]
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mitochondrial complex V (ATP synthase) deficiency nuclear type 2 |
MC5DN2; neonatal mitochondrial encephalocardiomyop..
[+]
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A mitochondrial complex V (ATP synthase) deficienc..[+]
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mitochondrial complex V (ATP synthase) deficiency nuclear type 3 |
MC5DN3
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A mitochondrial complex V (ATP synthase) deficienc..[+]
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mitochondrial complex V (ATP synthase) deficiency nuclear type 4 |
MC5DN4
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A mitochondrial complex V (ATP synthase) deficienc..[+]
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microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
microcephaly, lymphedema, chorioretinal dysplasia ..
[+]
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A syndrome characterized byvariable expression of ..[+]
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mitochondrial complex III deficiency nuclear type 2 |
MC3DN2
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A mitochondrial metabolism disease characterized b..[+]
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multiple acyl-CoA dehydrogenase deficiency |
An inherited metabolic disorder characterized by t..[+]
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mandibulofacial dysostosis with alopecia |
MFDA
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A syndrome characterized_by malar and mandibular h..[+]
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Meesmann corneal dystrophy |
MECD; juvenile hereditary epithelial dystrophy; St..
[+]
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n_a
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Miller-Dieker lissencephaly syndrome |
Miller-Dieker syndrome; MDS
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A syndrome characterized by classical lissencephal..[+]
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MEDNIK syndrome |
mental retardation, enteropathy, deafness, neuropa..
[+]
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A syndrome characterized by mental retardation, en..[+]
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Mowat-Wilson syndrome |
microcephaly, mental retardation, and distinct fac..
[+]
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A syndrome characterized by a distinct facial phen..[+]
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metal allergy |
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A hypersensitivity reaction type I disease trigger..[+]
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melon allergy |
Cucumis melo fruit allergy
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A fruit allergy triggered by Cucumis melo plant fr..[+]
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mollusc allergy |
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A shellfish allergy triggered by Mollusca.
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mitochondrial complex I deficiency |
isolated mitochondrial respiratory chain complex I..
[+]
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A mitochondrial metabolism disease characterized b..[+]
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mitochondrial complex II deficiency |
isolated mitochondrial respiratory chain complex I..
[+]
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A mitochondrial metabolism disease characerized by..[+]
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microcephalic osteodysplastic primordial dwarfism type I |
brachymelic primordial dwarfism; cephaloskeletal d..
[+]
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A microcephalic osteodysplastic primordial dwarfis..[+]
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microcephalic osteodysplastic primordial dwarfism type II |
Majewski osteodysplastic primordial dwarfism type ..
[+]
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A microcephalic osteodysplastic primordial dwarfis..[+]
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megacystis-microcolon-intestinal hypoperistalsis syndrome |
Berdon syndrome; visceral myopathy
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A syndrome that is characterized by marked dilatat..[+]
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MYH-9 related disease |
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A blood platelet disease that has_material_basis_i..[+]
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Muenke Syndrome |
FGFR3-related craniosynostosis
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A craniosyntosis characterized by autosomal domina..[+]
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