Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases Research, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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Mac Dermot Winter syndrome
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Macleod Fraser syndrome
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Macrocephaly mesodermal hamartoma spectrum
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Macrocephaly, benign familial
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Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations
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Macrodactyly of the foot
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Macrodactyly of the hand
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Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
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Macroglossia
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Macrogyria, pseudobulbar palsy and mental retardation
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Macrophagic myofasciitis
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Macrosomia with lethal microphthalmia
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Macrothrombocytopenia progressive deafness
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Macular dystrophy, atypical vitelliform
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Macular dystrophy, concentric annular
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Macular dystrophy, corneal type 1
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Macular dystrophy, retinal, 1, North Carolina type
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Macules hereditary congenital hypopigmented and hyperpigmented
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Madelung's disease
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Madokoro Ohdo Sonoda syndrome
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Maffucci syndrome
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Majeed syndrome
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Mal de debarquement
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Malakoplakia
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Malaria
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Male pseudohermaphroditism due to defective LH molecule
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Male pseudohermaphroditism/mental retardation syndrome, Verloes type
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Malformations in neuronal migration
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Malignant astrocytoma
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Malignant cylindroma
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Malignant eccrine spiradenoma
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Malignant fibrous histiocytoma
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Malignant germ cell tumor
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Malignant hyperthermia arthrogryposis torticollis
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Malignant hyperthermia susceptibility type 1
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Malignant hyperthermia susceptibility type 2
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Malignant hyperthermia susceptibility type 3
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Malignant hyperthermia susceptibility type 4
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Malignant hyperthermia susceptibility type 5
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Malignant hyperthermia susceptibility type 6
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Malignant melanoma, childhood
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Malignant mesenchymal tumor
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Malignant mixed Mullerian tumor
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Malignant paroxysmal ventricular tachycardia
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Malignant Teratocarcinosarcoma
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Mallory-Weiss syndrome
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Malonic aciduria
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Malouf syndrome
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Malpuech facial clefting syndrome
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Mandibuloacral dysplasia with type A lipodystrophy
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Mandibuloacral dysplasia with type B lipodystrophy
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Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
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Mannose binding lectin protein deficiency
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Mannosidosis, beta A, lysosomal
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Manouvrier syndrome
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Mansonelliasis
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Mantle cell lymphoma
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Manz syndrome
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Maple syrup urine disease
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Maple syrup urine disease type 1A
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Maple syrup urine disease type 2
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Maple syrup urine disease, type 1B
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Marburg hemorrhagic fever
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Marchiafava Bignami disease
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Marchiafava-Micheli disease
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Marcus Gunn phenomenon
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Marden Walker like syndrome
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Marden-Walker syndrome
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Marek disease
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Marfan syndrome
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Marfan Syndrome type 2
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Marfan Syndrome type 3
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Marfan Syndrome type 4
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Marfan Syndrome type 5
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Marfan-Like syndrome
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Marfan-like syndrome, Boileau type
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Marfanoid hypermobility
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Marfanoid mental retardation syndrome autosomal
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Marginal glioneuronal heterotopia
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Marie type ataxia
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Marie Unna congenital hypotrichosis
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Marinesco-Sjogren syndrome
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Marinesco-Sjogren-like syndrome (MSLS)
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Markel Vikkula Mulliken syndrome
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Marles Greenberg Persaud syndrome
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Maroteaux Fonfria syndrome
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Maroteaux Stanescu Cousin syndrome
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Maroteaux Verloes Stanescu syndrome
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Marphanoid syndrome type De Silva
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Marsden Nyhan Sakati syndrome
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Marsden syndrome
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Marshall syndrome
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Marshall-Smith syndrome
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Martinez Monasterio Pinheiro syndrome
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Martsolf syndrome
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MASA syndrome
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MASS syndrome
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Massa Casaer Ceulemans syndrome
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Mast cell disease
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Mastocytic enterocolitis
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Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
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Mastroiacovo De Rosa Satta syndrome
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Mastroiacovo Gambi Segni syndrome
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MAT deficiency
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Maternal hyperphenylalaninemia
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Maternally inherited diabetes and deafness
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Maternally Inherited Leigh Syndrome
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Mathieu De Broca Bony syndrome
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Matsoukas Liarikos Giannika syndrome
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Maturity onset diabetes of the young
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Maumenee syndrome
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Maxillary double lip
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Maxillofacial dysostosis
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Maxillonasal dysplasia, Binder type
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May-Hegglin anomaly
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MCAD deficiency
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McAlister Crane syndrome
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McCallum Macadam Johnston syndrome
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McCune Albright syndrome
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McDonough syndrome
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McDowall syndrome
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McGillivray syndrome
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McKusick Kaufman syndrome
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McLain Debakian syndrome
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McPherson Clemens syndrome
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McPherson Robertson Cammarano syndrome
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Meacham Winn Culler syndrome
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Meadows syndrome
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Measles
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Meckel syndrome type 2
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Meckel syndrome type 3
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Meckel syndrome type1
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Meconium aspiration syndrome
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MECP2 Duplication Syndrome
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Medeira Dennis Donnai syndrome
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Medial Medullary Syndrome
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Median cleft lip, corpus callosum, lipoma, and skin polyps
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Median nodule of the upper lip
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Mediastinal endodermal sinus tumors
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Mediastinal Fibrosis
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Medium-chain 3-ketoacyl-coa thiolase deficiency
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Medrano Roldan syndrome
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Medullary cystic kidney disease 1
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Medullary sponge kidney
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Medulloblastoma
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Megacystis microcolon intestinal hypoperistalsis syndrome
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Megaduodenum
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Megaepiphyseal dwarfism
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Megalencephalic leukoencephalopathy with subcortical cysts
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Megalencephaly cutis marmorata telangiectatica congenita
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Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome
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Megaloblastic anemia
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Megalocornea mental retardation syndrome
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Megalocytic interstitial nephritis
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Megarbane syndrome
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Mehes syndrome
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Mehta Lewis Patton syndrome
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Meier Blumberg Imahorn syndrome
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Meier Rotschild syndrome
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Meigel disease
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Meinecke Pepper syndrome
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Meinecke syndrome
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Melanoma astrocytoma syndrome
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Melanoma of the choroid
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Melanoma of the ciliary body
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Melanoma of the iris
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Melanoma, familial
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MELAS
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Meleda Disease
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Melhem Fahl syndrome
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Meliodosis
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Melkersson-Rosenthal syndrome
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Melnick-Needles syndrome
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Melorheostosis
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Membranoproliferative glomerulonephritis (type 2)
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Membranous nephropathy, idiopathic
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Mendelian susceptibility to atypical mycobacteria
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Menetrier disease
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Mengel Konigsmark syndrome
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Meningeal angiomatosis cleft hypoplastic left heart
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Meningioma, familial
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Meningioma, spinal
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Meningocele
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Meningococcal infection
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Meningococcemia
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Meningoencephalocele
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Meningoencephalocele-arthrogryposis-hypoplastic thumb
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Meningomyelocele
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Menkes syndrome
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Mental deficiency-epilepsy-endocrine disorders
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Mental mixed retardation deafnes clubbed digits
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Mental retardation anophthalmia craniosynostosis
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Mental retardation arachnodactyly hypotonia telangiectasia
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Mental retardation athetosis microphthalmia
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Mental retardation blepharophimosis obesity web neck
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Mental retardation Buenos Aires type
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Mental retardation cataracts calcified pinnae myopathy
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Mental retardation coloboma slimness
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Mental retardation contractural arachnodactyly
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Mental retardation dysmorphism hypogonadism diabetes
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Mental retardation epilepsy
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Mental retardation epilepsy bulbous nose
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Mental retardation gynecomastia obesity X-linked
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Mental retardation hip luxation G6PD variant
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Mental retardation hypocupremia hypobetalipoproteinemia
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Mental retardation hypotonia skin hyperpigmentation
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Mental retardation macrocephaly coarse facies hypotonia
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Mental retardation microcephaly phalangeal facial
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Mental retardation microcephaly unusual facies
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Mental retardation Mietens Weber type
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Mental retardation multiple nevi
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Mental retardation myopathy short stature endocrine defect
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Mental retardation nasal hypoplasia obesity genital hypoplasia
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Mental retardation nasal papillomata
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Mental retardation osteosclerosis
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Mental retardation progressive spasticity
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Mental retardation psychosis macroorchidism
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Mental retardation short broad thumbs
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Mental retardation short stature absent phalanges
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Mental retardation short stature Bombay phenotype
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Mental retardation short stature cleft palate unusual facies
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Mental retardation short stature deafness genital
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Mental retardation short stature hand contractures genital anomalies
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Mental retardation short stature heart and skeletal anomalies
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Mental retardation short stature hypertelorism
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Mental retardation short stature microcephaly eye
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Mental retardation short stature ocular and articular anomalies
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Mental retardation short stature scoliosis
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Mental retardation short stature unusual facies
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Mental retardation skeletal dysplasia abducens palsy
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Mental retardation Smith Fineman Myers type
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Mental retardation spasticity ectrodactyly
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Mental retardation syndrome, Belgian type
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Mental retardation unusual facies
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Mental retardation unusual facies talipes hand anomalies
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Mental retardation Wolff type
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Mental retardation X-linked borderline Maoa metabolism anomaly
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Mental retardation X-linked Brunner type
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Mental retardation X-linked dysmorphism
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Mental retardation X-linked dystonia dysarthria
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Mental retardation X-linked short stature obesity
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Mental retardation X-linked syndromic 7
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Mental retardation X-linked, South African type
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Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
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Mental retardation, keratoconus, febrile seizures, and sinoatrial block
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Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
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Mental retardation, X-linked 14
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Mental retardation, X-linked, nonspecific
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Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
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Mental retardation-hypotonic facies syndrome, x-linked, 1
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Mental retardation-polydactyly-uncombable hair
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Meralgia paresthetica
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Mercury poisoning
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Meretoja syndrome
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Merkel cell cancer
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Merlob Grunebaum Reisner syndrome
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Merlob syndrome
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Mesangial proliferative glomerulonephritis
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Mesangial sclerosis, diffuse
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Mesenteric artery ischemia
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Mesodermal defects lower type
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Mesomelia
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Mesomelia-synostoses syndrome
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Mesomelic dwarfism cleft palate camptodactyly
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Mesomelic dwarfism Reinhardt Pfeiffer type
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Mesomelic dysplasia skin dimples
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Mesomelic syndrome Pfeiffer type
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Mesothelioma, adult malignant
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Metabolic disorder
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Metacarpals 4 and 5 fusion
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Metachondromatosis
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Metachromatic leukodystrophy
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Metagonimiasis
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Metaphyseal acroscyphodysplasia
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Metaphyseal anadysplasia
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Metaphyseal chondrodysplasia Schmid type
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Metaphyseal chondrodysplasia Spahr type
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Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
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Metaphyseal chondrodysplasia, others
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Metaphyseal dysostosis mental retardation conductive deafness
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Metaphyseal dysplasia maxillary hypoplasia brachydactyly
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Metaphyseal dysplasia Pyle type
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Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
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Metastatic insulinoma
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Metastatic squamous neck cancer with occult primary
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Metatarsus adductus
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Metatrophic dysplasia
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Metatropic dwarfism
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Methimazole antenatal infection
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Methionine adenosyl transferase deficiency
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Methyl mercury antenatal infection
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Methylcobalamin deficiency cbl G type
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Methylcobalamin deficiency, cbl E complementation type
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Methylmalonic acidemia
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Methylmalonic acidemia with homocystinuria
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Methylmalonic aciduria cblA type
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Methylmalonic aciduria cblB type
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Methylmalonic aciduria microcephaly cataract
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Methylmalonicacidemia with homocystinuria cbl d
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Methylmalonicaciduria with homocystinuria cbl f
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Methylmalonyl-Coenzyme A mutase deficiency
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Mevalonic aciduria
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Meyenburg-Altherr-Uehlinger syndrome
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MHC class 1 or class 2 deficiency
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Michelin tire baby syndrome
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Michels Caskey syndrome
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Mickleson syndrome
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Micrencephaly corpus callosum agenesis
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Micrencephaly olivopontocerebellar hypoplasia
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Micro syndrome
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Microbrachycephaly ptosis cleft lip
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Microcephalic osteodysplastic primordial dwarfism, type 1
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Microcephalic osteodysplastic primordial dwarfism, type 2
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Microcephalic osteodysplastic primordial dwarfism, type 3
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Microcephalic primordial dwarfism
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Microcephalic primordial dwarfism Toriello type
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Microcephaly
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Microcephaly albinism digital anomalies syndrome
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Microcephaly autosomal dominant
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Microcephaly brachydactyly kyphoscoliosis
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Microcephaly brain defect spasticity hypernatremia
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Microcephaly cardiac defect lung malsegmentation
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Microcephaly cardiomyopathy
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Microcephaly cervical spine fusion anomalies
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Microcephaly chorioretinopathy recessive form
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Microcephaly deafness syndrome
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Microcephaly developmental delay pancytopenia
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Microcephaly glomerulonephritis Marfanoid habitus
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Microcephaly hypergonadotropic hypogonadism short stature
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Microcephaly immunodeficiency lymphoreticuloma
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Microcephaly mental retardation retinopathy
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Microcephaly mental retardation spasticity epilepsy
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Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome
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Microcephaly microcornea syndrome Seemanova type
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Microcephaly micropenis convulsions
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Microcephaly microphthalmos blindness
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Microcephaly nonsyndromal
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Microcephaly pontocerebellar hypoplasia dyskinesia
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Microcephaly seizures mental retardation heart disorders
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Microcephaly sparse hair mental retardation seizures
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Microcephaly with chorioretinopathy, autosomal dominant form
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Microcephaly with normal intelligence, immunodeficiency
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Microcephaly with spastic quadriplegia
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Microcephaly, corpus callosum dysgenesis and cleft lip-palate
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Microcephaly, hiatal hernia and nephrotic syndrome
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Microcephaly, holoprosencephaly, and intrauterine growth retardation
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Microcephaly, primary autosomal recessive
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Microcoria, congenital
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Microcornea corectopia macular hypoplasia
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Microcornea, glaucoma, and absent frontal sinuses
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Microcystic adnexal carcinoma
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Microdontia hypodontia short stature
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Microencephaly
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Microgastria limb reduction defect
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Microhydranencephaly
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Micromelic dwarfism Fryns type
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Micromelic dysplasia, congenital, with dislocation of radius
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Microphthalmia
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Microphthalmia and mental deficiency
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Microphthalmia associated with colobomatous cyst
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Microphthalmia camptodactyly mental retardation
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Microphthalmia cataract
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Microphthalmia diaphragmatic hernia Fallot
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Microphthalmia mental deficiency
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Microphthalmia microtia fetal akinesia
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Microphthalmia, isolated, with corectopia
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Microphthalmia, Lentz type
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Microphthalmia, syndromic 1
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Microphthalmia, syndromic 2
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Microphthalmia, syndromic 7
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Microscopic polyangiitis
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Microsomia hemifacial radial defects
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Microspherophakia with hernia
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Microsporidiosis
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Microtia, eye coloboma, and imperforation of the nasolacrimal duct
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Microtia, meatal atresia and conductive deafness
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Microtia-Anotia
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Microvillus inclusion disease
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Midline cleft of lower lip
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Midline defects autosomal type
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Midline defects recessive type
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Midline developmental field defects
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Midline field defects
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Midline lethal granuloma
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Midphalangeal hair
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Mikulicz' Disease
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Mikulicz syndrome
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Miles-Carpenter x-linked mental retardation syndrome
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Miller Fisher syndrome
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Miller-Dieker syndrome
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Milner Khallouf Gibson syndrome
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Minicore myopathy with external ophthalmoplegia
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Minicore myopathy, antenatal onset, with arthrogryposis
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Mirizzi syndrome
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Mirror polydactyly segmentation and limbs defects
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Mitochondrial complex I deficiency
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Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia
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Mitochondrial diseases, clinically undefinite
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Mitochondrial encephalomyopathy aminoacidopathy
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Mitochondrial myopathy with lactic acidosis
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Mitochondrial myopathy-encephalopathy-lactic acidosis
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Mitochondrial neurogastrointestinal encephalopathy syndrome
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Mitochondrial trifunctional protein deficiency
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Mitral atresia
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Mitral regurgitation deafness skeletal anomalies
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Mitral valve prolapse, familial, autosomal dominant
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Mitral valve prolapse, familial, X-linked
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Miura syndrome
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Mixed connective tissue disease
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Mixed sclerosing bone dystrophy
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Miyoshi myopathy
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MMEP syndrome
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MN1
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Mobius syndrome
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MODY syndrome
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Moebius axonal neuropathy hypogonadism
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Moebius syndrome 1
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Mohr syndrome
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Mohr-Tranebjaerg syndrome
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Mollica Pavone Antener syndrome
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Moloney syndrome
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Molybdenum cofactor deficiency
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MOMO syndrome
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Mondini Dysplasia
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Mondor's disease
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Monilethrix
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Monoamine oxidase A deficiency
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Monoclonal gammopathy of undetermined significance
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Monodactyly tetramelic
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Mononen Karnes Senac syndrome
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Mononeuritis multiplex
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Monosomy 8q12 21
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Monosomy 8q21 q22
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Monosomy X
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Montefiore syndrome
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Moore Smith Weaver syndrome
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Morel's ear
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Moreno Zachai Kaufman syndrome
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Morgagni-Stewart-Morel syndrome
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Morgellons
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Morillo-Cucci Passarge syndrome
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MORM syndrome
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Morphea
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Morquio syndrome
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Morquio syndrome, type B
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Morse Rawnsley Sargent syndrome
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Morvan's fibrillary chorea
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Mosaic variegated aneuploidy syndrome
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Motor neuron disease
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Motor neuro-ophthalmic disorders
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Motor neuropathy
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Motor neuropathy peripheral with dysautonomia
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Motor sensory neuropathy type 1 aplasia cutis congenita
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Mounier-Kuhn syndrome
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Mousa Al din Al Nassar syndrome
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Mowat-Wilson syndrome
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Moyamoya disease 1
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Moyamoya disease 2
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Moyamoya disease 3
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MSBD syndrome
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Mucha-Habermann disease
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Muckle-Wells syndrome
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Mucolipidosis type 1
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Mucolipidosis type 3 A
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Mucolipidosis type 4
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Mucopolysaccharidosis type 6
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Mucopolysaccharidosis type 7 Sly syndrome
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Mucopolysaccharidosis type I
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Mucopolysaccharidosis type II
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Mucopolysaccharidosis type IIIA
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Mucopolysaccharidosis type IIIB
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Mucopolysaccharidosis type IIIC
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Mucopolysaccharidosis type IIID
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Mucopolysaccharidosis type IV-B
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Muenke Syndrome
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Mulibrey Nanism syndrome
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Muller Barth Menger syndrome
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Mullerian agenesis
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Mullerian aplasia
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Mullerian derivatives, persistent
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Mullerian duct abnormalities galactosemia
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Mulliez Roux Loterman syndrome
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Multicentric Castleman’s Disease
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Multicentric osteolysis nephropathy
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Multicentric reticulohistiocytosis
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Multicore disease
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Multicystic renal dysplasia, bilateral
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Multifocal choroiditis
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Multifocal fibrosclerosis
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Multifocal heterotopia
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Multifocal lymphangioendotheliomatosis with thrombocytopenia
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Multifocal motor neuropathy with conduction block
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Multifocal ventricular premature beats
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Multinodular goiter cystic kidney polydactyly
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Multiple carboxylase deficiency, biotin responsive
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Multiple carboxylase deficiency, late onset
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Multiple carboxylase deficiency, propionic acidemia
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Multiple congenital anomalies mental retardation, growth failure and cleft lip palate
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Multiple congenital contractures
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Multiple endocrine neoplasia type 1
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Multiple endocrine neoplasia type 2A
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Multiple endocrine neoplasia, type 2
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Multiple endocrine neoplasia, type 2B
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Multiple fibrofolliculoma familial
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Multiple hereditary exostoses
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Multiple joint dislocations metaphyseal dysplasia
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Multiple myeloma
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Multiple pterygium syndrome
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Multiple pterygium syndrome lethal type
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Multiple sclerosis ichthyosis factor 8 deficiency
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Multiple sulfatase deficiency
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Multiple synostoses syndrome 1
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Multiple synostoses syndrome 2
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Multiple system atrophy
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Multiple vertebral anomalies unusual facies
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Mumps
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Munchausen by proxy syndrome
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MURCS association
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Muscle eye brain disease
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Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus
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Muscular dystrophy
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Muscular Dystrophy - Late Onset
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Muscular dystrophy congenital, merosin negative
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Muscular dystrophy limb girdle type 2A, Erb type
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Muscular dystrophy white matter spongiosis
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Muscular dystrophy, congenital, infantile with cataract and hypogonadism
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Muscular dystrophy, congenital, megaconial type
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Muscular dystrophy, congenital, merosin-positive
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Muscular dystrophy, Duchenne and Becker type
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Muscular fibrosis multifocal obstructed vessels
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Muscular phosphorylase kinase deficiency
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Myalgia eosinophilia associated with tryptophan
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Myasthenia gravis
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Myasthenia gravis congenital
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Myasthenia, familial
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Myasthenia, familial limb-girdle
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Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
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Myasthenic syndrome, congenital, slow-channel
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Mycetoma
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Mycobacterium avium complex infection
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Mycobacterium Fortuitum
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Mycobacterium tuberculosis, susceptibility to infection by
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Mycoplasmal pneumonia
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Mycosis fungoides, familial
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Myelinopathies
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Myelitis
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Myelocerebellar disorder
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Myelocytic leukemia-like syndrome, familial, chronic
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Myelodysplastic myeloproliferative disease
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Myelodysplastic syndromes
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Myelofibrosis
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Myeloid splenomegaly
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Myeloperoxidase deficiency
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Myhre Ruvalcaba Graham syndrome
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Myhre Ruvalcaba Kelley syndrome
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Myhre School syndrome
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Myhre syndrome
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Myoadenylate deaminase deficiency
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Myocarditis
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Myoclonic dystonia
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Myoclonic progressive familial epilepsy
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Myoclonus ataxia
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Myoclonus cerebellar ataxia deafness
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Myoclonus epilepsy
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Myoclonus epilepsy partial seizure
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Myoclonus hereditary progressive distal muscular atrophy
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Myoclonus progressive epilepsy of Unverricht and Lundborg
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Myoclonus with epilepsy with ragged red fibers
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Myofibrillar lysis
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Myofibroblastic tumors
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Myoglobinuria
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Myoglobinuria dominant form
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Myoglobinuria recurrent
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Myokymia with neonatal epilepsy
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Myopathic carnitine deficiency
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Myopathy and diabetes mellitus
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Myopathy cataract hypogonadism
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Myopathy congenital multicore with external ophthalmoplegia
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Myopathy growth and mental retardation hypospadias
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Myopathy Hutterite type
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Myopathy mitochondrial cataract
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Myopathy ophthalmoplegia hypoacousia areflexia
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Myopathy with lactic acidosis and sideroblastic anemia
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Myopathy with lysis of myofibrils
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Myopathy, congenital nonprogressive with Moebius and Robin sequences
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Myopathy, desmin storage
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Myopathy, limb-girdle, with bone fragility
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Myopathy, McArdle type
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Myopathy, myotubular
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Myopathy, tubular aggregate
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Myopathy, X-linked, with excessive autophagy
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Myopia 6
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Myopia, infantile severe
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Myopia, severe
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Myositis ossificans
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Myositis ossificans post-traumatic
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Myositis ossificans progressiva
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Myositis, inclusion body
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Myostatin-related muscle hypertrophy
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Myotilinopathy
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Myotonia atrophica
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Myotonia congenita
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Myotonia mental retardation skeletal anomalies
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Myotonic dystrophy 1
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Myotonic dystrophy 2
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Myxedema
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Myxoid liposarcoma
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Myxoma-spotty pigmentation-endocrine overactivity
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Myxomatous peritonitis
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Myxozoa
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