Rare Disease Directory M - O
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- Macleod Fraser syndrome
- Macrocephaly mesodermal hamartoma spectrum
- Macrocephaly, benign familial
- Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations
- Macrodactyly of the foot
- Macrodactyly of the hand
- Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance
- Macroglossia
- Macrogyria, pseudobulbar palsy and mental retardation
- Macrophagic myofasciitis
- Macrosomia with lethal microphthalmia
- Macrothrombocytopenia progressive deafness
- Macular dystrophy, atypical vitelliform
- Macular dystrophy, concentric annular
- Macular dystrophy, corneal type 1
- Macular dystrophy, retinal, 1, North Carolina type
- Macules hereditary congenital hypopigmented and hyperpigmented
- Madelung's disease
- Madokoro Ohdo Sonoda syndrome
- Maffucci syndrome
- Majeed syndrome
- Mal de debarquement
- Malakoplakia
- Malaria
- Male pseudohermaphroditism due to defective LH molecule
- Male pseudohermaphroditism/mental retardation syndrome, Verloes type
- Malformations in neuronal migration
- Malignant astrocytoma
- Malignant cylindroma
- Malignant eccrine spiradenoma
- Malignant fibrous histiocytoma
- Malignant germ cell tumor
- Malignant hyperthermia
- Malignant hyperthermia arthrogryposis torticollis
- Malignant hyperthermia susceptibility type 1
- Malignant hyperthermia susceptibility type 2
- Malignant hyperthermia susceptibility type 3
- Malignant hyperthermia susceptibility type 4
- Malignant hyperthermia susceptibility type 5
- Malignant hyperthermia susceptibility type 6
- Malignant melanoma, childhood
- Malignant mesenchymal tumor
- Malignant mixed Mullerian tumor
- Malignant paroxysmal ventricular tachycardia
- Malignant Teratocarcinosarcoma
- Mallory-Weiss syndrome
- Malonic aciduria
- Malouf syndrome
- Malpuech facial clefting syndrome
- Mandibuloacral dysplasia with type A lipodystrophy
- Mandibuloacral dysplasia with type B lipodystrophy
- Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
- Mannose binding lectin protein deficiency
- Mannosidosis, beta A, lysosomal
- Manouvrier syndrome
- Mansonelliasis
- Mantle cell lymphoma
- Manz syndrome
- Maple syrup urine disease
- Maple syrup urine disease type 1A
- Maple syrup urine disease type 2
- Maple syrup urine disease, type 1B
- Marburg hemorrhagic fever
- Marchiafava Bignami disease
- Marchiafava-Micheli disease
- Marcus Gunn phenomenon
- Marden Walker like syndrome
- Marden-Walker syndrome
- Marek disease
- Marfan syndrome
- Marfan Syndrome type 2
- Marfan Syndrome type 3
- Marfan Syndrome type 4
- Marfan Syndrome type 5
- Marfan-Like syndrome
- Marfan-like syndrome, Boileau type
- Marfanoid hypermobility
- Marfanoid mental retardation syndrome autosomal
- Marginal glioneuronal heterotopia
- Marie type ataxia
- Marie Unna congenital hypotrichosis
- Marinesco-Sjogren syndrome
- Marinesco-Sjogren-like syndrome (MSLS)
- Markel Vikkula Mulliken syndrome
- Marles Greenberg Persaud syndrome
- Maroteaux Fonfria syndrome
- Maroteaux Stanescu Cousin syndrome
- Maroteaux Verloes Stanescu syndrome
- Marphanoid syndrome type De Silva
- Marsden Nyhan Sakati syndrome
- Marsden syndrome
- Marshall syndrome
- Marshall-Smith syndrome
- Martinez Monasterio Pinheiro syndrome
- Martsolf syndrome
- MASA syndrome
- MASS syndrome
- Massa Casaer Ceulemans syndrome
- Mast cell disease
- Mastocytic enterocolitis
- Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
- Mastroiacovo De Rosa Satta syndrome
- Mastroiacovo Gambi Segni syndrome
- MAT deficiency
- Maternal hyperphenylalaninemia
- Maternally inherited diabetes and deafness
- Maternally Inherited Leigh Syndrome
- Mathieu De Broca Bony syndrome
- Matsoukas Liarikos Giannika syndrome
- Maturity onset diabetes of the young
- Maumenee syndrome
- Maxillary double lip
- Maxillofacial dysostosis
- Maxillonasal dysplasia, Binder type
- May-Hegglin anomaly
- MCAD deficiency
- McAlister Crane syndrome
- McCallum Macadam Johnston syndrome
- McCune Albright syndrome
- McDonough syndrome
- McDowall syndrome
- McGillivray syndrome
- McKusick Kaufman syndrome
- McLain Debakian syndrome
- McPherson Clemens syndrome
- McPherson Robertson Cammarano syndrome
- Meacham Winn Culler syndrome
- Meadows syndrome
- Measles
- Meckel syndrome type 2
- Meckel syndrome type 3
- Meckel syndrome type1
- MECP2 Duplication Syndrome
- Medeira Dennis Donnai syndrome
- Medial Medullary Syndrome
- Median cleft lip, corpus callosum, lipoma, and skin polyps
- Median nodule of the upper lip
- Mediastinal endodermal sinus tumors
- Mediastinal Fibrosis
- Medium-chain 3-ketoacyl-coa thiolase deficiency
- Medrano Roldan syndrome
- Medullary cystic kidney disease 1
- Medullary sponge kidney
- Medulloblastoma
- Megacystis microcolon intestinal hypoperistalsis syndrome
- Megaduodenum
- Megaepiphyseal dwarfism
- Megalencephalic leukoencephalopathy with subcortical cysts
- Megalencephaly cutis marmorata telangiectatica congenita
- Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome
- Megaloblastic anemia
- Megalocornea mental retardation syndrome
- Megalocytic interstitial nephritis
- Megarbane syndrome
- Mehes syndrome
- Mehta Lewis Patton syndrome
- Meier Blumberg Imahorn syndrome
- Meier Rotschild syndrome
- Meige syndrome
- Meigel disease
- Meinecke Pepper syndrome
- Meinecke syndrome
- Melanoma astrocytoma syndrome
- Melanoma of the choroid
- Melanoma of the ciliary body
- Melanoma of the iris
- Melanoma, familial
- MELAS
- Meleda Disease
- Melhem Fahl syndrome
- Meliodosis
- Melkersson-Rosenthal syndrome
- Melnick-Needles syndrome
- Melorheostosis
- Membranoproliferative glomerulonephritis (type 2)
- Membranous nephropathy, idiopathic
- Mendelian susceptibility to atypical mycobacteria
- Menetrier disease
- Mengel Konigsmark syndrome
- Meningeal angiomatosis cleft hypoplastic left heart
- Meningioma, familial
- Meningioma, spinal
- Meningocele
- Meningococcal infection
- Meningococcemia
- Meningoencephalocele
- Meningoencephalocele-arthrogryposis-hypoplastic thumb
- Meningomyelocele
- Menkes syndrome
- Mental deficiency-epilepsy-endocrine disorders
- Mental mixed retardation deafnes clubbed digits
- Mental retardation anophthalmia craniosynostosis
- Mental retardation arachnodactyly hypotonia telangiectasia
- Mental retardation athetosis microphthalmia
- Mental retardation blepharophimosis obesity web neck
- Mental retardation Buenos Aires type
- Mental retardation cataracts calcified pinnae myopathy
- Mental retardation coloboma slimness
- Mental retardation contractural arachnodactyly
- Mental retardation dysmorphism hypogonadism diabetes
- Mental retardation epilepsy
- Mental retardation epilepsy bulbous nose
- Mental retardation gynecomastia obesity X-linked
- Mental retardation hip luxation G6PD variant
- Mental retardation hypocupremia hypobetalipoproteinemia
- Mental retardation hypotonia skin hyperpigmentation
- Mental retardation macrocephaly coarse facies hypotonia
- Mental retardation microcephaly phalangeal facial
- Mental retardation microcephaly unusual facies
- Mental retardation Mietens Weber type
- Mental retardation multiple nevi
- Mental retardation myopathy short stature endocrine defect
- Mental retardation nasal hypoplasia obesity genital hypoplasia
- Mental retardation nasal papillomata
- Mental retardation osteosclerosis
- Mental retardation progressive spasticity
- Mental retardation psychosis macroorchidism
- Mental retardation short broad thumbs
- Mental retardation short stature absent phalanges
- Mental retardation short stature Bombay phenotype
- Mental retardation short stature cleft palate unusual facies
- Mental retardation short stature deafness genital
- Mental retardation short stature hand contractures genital anomalies
- Mental retardation short stature heart and skeletal anomalies
- Mental retardation short stature hypertelorism
- Mental retardation short stature microcephaly eye
- Mental retardation short stature ocular and articular anomalies
- Mental retardation short stature scoliosis
- Mental retardation short stature unusual facies
- Mental retardation skeletal dysplasia abducens palsy
- Mental retardation Smith Fineman Myers type
- Mental retardation spasticity ectrodactyly
- Mental retardation syndrome, Belgian type
- Mental retardation unusual facies
- Mental retardation unusual facies talipes hand anomalies
- Mental retardation Wolff type
- Mental retardation X-linked borderline Maoa metabolism anomaly
- Mental retardation X-linked Brunner type
- Mental retardation X-linked dysmorphism
- Mental retardation X-linked dystonia dysarthria
- Mental retardation X-linked short stature obesity
- Mental retardation X-linked syndromic 7
- Mental retardation X-linked, South African type
- Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
- Mental retardation, keratoconus, febrile seizures, and sinoatrial block
- Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
- Mental retardation, X-linked 14
- Mental retardation, X-linked, nonspecific
- Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
- Mental retardation-hypotonic facies syndrome, x-linked, 1
- Mental retardation-polydactyly-uncombable hair
- Meralgia paresthetica
- Mercury poisoning
- Meretoja syndrome
- Merkel cell cancer
- Merlob Grunebaum Reisner syndrome
- Merlob syndrome
- Mesangial proliferative glomerulonephritis
- Mesangial sclerosis, diffuse
- Mesenteric artery ischemia
- Mesodermal defects lower type
- Mesomelia
- Mesomelia-synostoses syndrome
- Mesomelic dwarfism cleft palate camptodactyly
- Mesomelic dwarfism Reinhardt Pfeiffer type
- Mesomelic dysplasia skin dimples
- Mesomelic syndrome Pfeiffer type
- Mesothelioma, adult malignant
- Metabolic disorder
- Metacarpals 4 and 5 fusion
- Metachondromatosis
- Metachromatic leukodystrophy
- Metagonimiasis
- Metaphyseal acroscyphodysplasia
- Metaphyseal anadysplasia
- Metaphyseal chondrodysplasia Schmid type
- Metaphyseal chondrodysplasia Spahr type
- Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands
- Metaphyseal chondrodysplasia, others
- Metaphyseal dysostosis mental retardation conductive deafness
- Metaphyseal dysplasia maxillary hypoplasia brachydactyly
- Metaphyseal dysplasia Pyle type
- Metaphyseal undermodeling, spondylar dysplasia, and overgrowth
- Metastatic insulinoma
- Metastatic squamous neck cancer with occult primary
- Metatarsus adductus
- Metatrophic dysplasia
- Metatropic dwarfism
- Methimazole antenatal infection
- Methionine adenosyl transferase deficiency
- Methyl mercury antenatal infection
- Methylcobalamin deficiency cbl G type
- Methylcobalamin deficiency, cbl E complementation type
- Methylenetetrahydrofolate reductase deficiency
- Methylmalonic acidemia
- Methylmalonic acidemia with homocystinuria
- Methylmalonic aciduria cblA type
- Methylmalonic aciduria cblB type
- Methylmalonic aciduria microcephaly cataract
- Methylmalonicacidemia with homocystinuria, cbl D
- Methylmalonicaciduria with homocystinuria, cbl F
- Methylmalonyl-Coenzyme A mutase deficiency
- Mevalonic aciduria
- Meyenburg-Altherr-Uehlinger syndrome
- MHC class 1 or class 2 deficiency
- Michelin tire baby syndrome
- Michels Caskey syndrome
- Mickleson syndrome
- Micrencephaly corpus callosum agenesis
- Micrencephaly olivopontocerebellar hypoplasia
- Micro syndrome
- Microbrachycephaly ptosis cleft lip
- Microcephalic osteodysplastic primordial dwarfism, type 1
- Microcephalic osteodysplastic primordial dwarfism, type 2
- Microcephalic osteodysplastic primordial dwarfism, type 3
- Microcephalic primordial dwarfism
- Microcephalic primordial dwarfism Toriello type
- Microcephaly
- Microcephaly albinism digital anomalies syndrome
- Microcephaly autosomal dominant
- Microcephaly brachydactyly kyphoscoliosis
- Microcephaly brain defect spasticity hypernatremia
- Microcephaly cardiac defect lung malsegmentation
- Microcephaly cardiomyopathy
- Microcephaly cervical spine fusion anomalies
- Microcephaly chorioretinopathy recessive form
- Microcephaly deafness syndrome
- Microcephaly developmental delay pancytopenia
- Microcephaly glomerulonephritis Marfanoid habitus
- Microcephaly hypergonadotropic hypogonadism short stature
- Microcephaly immunodeficiency lymphoreticuloma
- Microcephaly mental retardation retinopathy
- Microcephaly mental retardation spasticity epilepsy
- Microcephaly mesobrachyphalangy tracheoesophageal fistula syndrome
- Microcephaly microcornea syndrome Seemanova type
- Microcephaly micropenis convulsions
- Microcephaly microphthalmos blindness
- Microcephaly nonsyndromal
- Microcephaly pontocerebellar hypoplasia dyskinesia
- Microcephaly seizures mental retardation heart disorders
- Microcephaly sparse hair mental retardation seizures
- Microcephaly with chorioretinopathy, autosomal dominant form
- Microcephaly with normal intelligence, immunodeficiency
- Microcephaly with spastic quadriplegia
- Microcephaly, corpus callosum dysgenesis and cleft lip-palate
- Microcephaly, hiatal hernia and nephrotic syndrome
- Microcephaly, holoprosencephaly, and intrauterine growth retardation
- Microcephaly, primary autosomal recessive
- Microcoria, congenital
- Microcornea corectopia macular hypoplasia
- Microcornea, glaucoma, and absent frontal sinuses
- Microcystic adnexal carcinoma
- Microdontia hypodontia short stature
- Microencephaly
- Microgastria limb reduction defect
- Microhydranencephaly
- Micromelic dwarfism Fryns type
- Micromelic dysplasia, congenital, with dislocation of radius
- Microphthalmia
- Microphthalmia and mental deficiency
- Microphthalmia associated with colobomatous cyst
- Microphthalmia camptodactyly mental retardation
- Microphthalmia cataract
- Microphthalmia diaphragmatic hernia Fallot
- Microphthalmia mental deficiency
- Microphthalmia microtia fetal akinesia
- Microphthalmia, isolated, with corectopia
- Microphthalmia, Lentz type
- Microphthalmia, syndromic 1
- Microphthalmia, syndromic 2
- Microphthalmia, syndromic 7
- Microscopic polyangiitis
- Microsomia hemifacial radial defects
- Microspherophakia with hernia
- Microsporidiosis
- Microtia, eye coloboma, and imperforation of the nasolacrimal duct
- Microtia, meatal atresia and conductive deafness
- Microtia-Anotia
- Microvillus inclusion disease
- Midline cleft of lower lip
- Midline defects autosomal type
- Midline defects recessive type
- Midline developmental field defects
- Midline field defects
- Midline lethal granuloma
- Midphalangeal hair
- Mikulicz' Disease
- Mikulicz syndrome
- Miles-Carpenter x-linked mental retardation syndrome
- Miller Fisher syndrome
- Miller-Dieker syndrome
- Milner Khallouf Gibson syndrome
- Minicore myopathy with external ophthalmoplegia
- Minicore myopathy, antenatal onset, with arthrogryposis
- Mirizzi syndrome
- Mirror polydactyly segmentation and limbs defects
- Mitochondrial complex I deficiency
- Mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia
- Mitochondrial diseases, clinically undefinite
- Mitochondrial encephalomyopathy aminoacidopathy
- Mitochondrial myopathy with lactic acidosis
- Mitochondrial myopathy-encephalopathy-lactic acidosis
- Mitochondrial neurogastrointestinal encephalopathy syndrome
- Mitochondrial trifunctional protein deficiency
- Mitral atresia
- Mitral regurgitation deafness skeletal anomalies
- Mitral valve prolapse, familial, autosomal dominant
- Mitral valve prolapse, familial, X-linked
- Miura syndrome
- Mixed connective tissue disease
- Mixed sclerosing bone dystrophy
- Miyoshi myopathy
- MMEP syndrome
- MN1
- Mobius syndrome
- MODY syndrome
- Moebius axonal neuropathy hypogonadism
- Moebius syndrome 1
- Mohr syndrome
- Mohr-Tranebjaerg syndrome
- Mollica Pavone Antener syndrome
- Moloney syndrome
- Molybdenum cofactor deficiency
- MOMO syndrome
- Mondini Dysplasia
- Mondor's disease
- Monilethrix
- Monoamine oxidase A deficiency
- Monoclonal gammopathy of undetermined significance
- Monodactyly tetramelic
- Mononen Karnes Senac syndrome
- Mononeuritis multiplex
- Monosomy 8q12 21
- Monosomy 8q21 q22
- Monosomy X
- Montefiore syndrome
- Moore Smith Weaver syndrome
- Morel's ear
- Moreno Zachai Kaufman syndrome
- Morgagni-Stewart-Morel syndrome
- Morgellons
- Morillo-Cucci Passarge syndrome
- MORM syndrome
- Morquio syndrome
- Morquio syndrome, type B
- Morse Rawnsley Sargent syndrome
- Morvan's fibrillary chorea
- Mosaic variegated aneuploidy syndrome
- Motor neuron disease
- Motor neuro-ophthalmic disorders
- Motor neuropathy
- Motor neuropathy peripheral with dysautonomia
- Motor sensory neuropathy type 1 aplasia cutis congenita
- Mounier-Kuhn syndrome
- Mousa Al din Al Nassar syndrome
- Mowat-Wilson syndrome
- Moyamoya disease 1
- Moyamoya disease 2
- Moyamoya disease 3
- MSBD syndrome
- Mucha-Habermann disease
- Muckle-Wells syndrome
- Mucolipidosis type 1
- Mucolipidosis type 3 A
- Mucolipidosis type 4
- Mucopolysaccharidosis type 6
- Mucopolysaccharidosis type 7 Sly syndrome
- Mucopolysaccharidosis type I
- Mucopolysaccharidosis type II
- Mucopolysaccharidosis type IIIA
- Mucopolysaccharidosis type IIIB
- Mucopolysaccharidosis type IIIC
- Mucopolysaccharidosis type IIID
- Mucopolysaccharidosis type IV-B
- Muenke Syndrome
- Mulibrey Nanism syndrome
- Muller Barth Menger syndrome
- Mullerian agenesis
- Mullerian aplasia
- Mullerian derivatives, persistent
- Mullerian duct abnormalities galactosemia
- Mulliez Roux Loterman syndrome
- Multicentric Castleman’s Disease
- Multicentric osteolysis nephropathy
- Multicentric reticulohistiocytosis
- Multicore disease
- Multicystic renal dysplasia, bilateral
- Multifocal choroiditis
- Multifocal fibrosclerosis
- Multifocal heterotopia
- Multifocal lymphangioendotheliomatosis with thrombocytopenia
- Multifocal motor neuropathy with conduction block
- Multifocal ventricular premature beats
- Multinodular goiter cystic kidney polydactyly
- Multiple carboxylase deficiency, biotin responsive
- Multiple carboxylase deficiency, late onset
- Multiple carboxylase deficiency, propionic acidemia
- Multiple congenital anomalies mental retardation, growth failure and cleft lip palate
- Multiple congenital contractures
- Multiple endocrine neoplasia type 1
- Multiple endocrine neoplasia type 2A
- Multiple endocrine neoplasia, type 2
- Multiple endocrine neoplasia, type 2B
- Multiple fibrofolliculoma familial
- Multiple hereditary exostoses
- Multiple joint dislocations metaphyseal dysplasia
- Multiple myeloma
- Multiple pterygium syndrome
- Multiple pterygium syndrome lethal type
- Multiple sclerosis ichthyosis factor 8 deficiency
- Multiple sulfatase deficiency
- Multiple synostoses syndrome 1
- Multiple synostoses syndrome 2
- Multiple system atrophy
- Multiple vertebral anomalies unusual facies
- Mumps
- Munchausen by proxy syndrome
- MURCS association
- Muscle eye brain disease
- Muscular atrophy ataxia retinitis pigmentosa diabetes mellitus
- Muscular dystrophy
- Muscular Dystrophy - Late Onset
- Muscular dystrophy congenital, merosin negative
- Muscular dystrophy limb girdle type 2A, Erb type
- Muscular dystrophy white matter spongiosis
- Muscular dystrophy, congenital, infantile with cataract and hypogonadism
- Muscular dystrophy, congenital, megaconial type
- Muscular dystrophy, congenital, merosin-positive
- Muscular dystrophy, Duchenne and Becker type
- Muscular fibrosis multifocal obstructed vessels
- Muscular phosphorylase kinase deficiency
- Myalgia eosinophilia associated with tryptophan
- Myalgic encephalomyelitis
- Myasthenia gravis
- Myasthenia gravis congenital
- Myasthenia, familial
- Myasthenia, familial limb-girdle
- Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
- Myasthenic syndrome, congenital, slow-channel
- Mycetoma
- Mycobacterium avium complex infection
- Mycobacterium Fortuitum
- Mycobacterium tuberculosis, susceptibility to infection by
- Mycoplasmal pneumonia
- Mycosis fungoides, familial
- Myelinopathies
- Myelitis
- Myelocerebellar disorder
- Myelocytic leukemia-like syndrome, familial, chronic
- Myelodysplastic myeloproliferative disease
- Myelodysplastic syndromes
- Myelofibrosis
- Myeloid splenomegaly
- Myeloperoxidase deficiency
- Myhre Ruvalcaba Graham syndrome
- Myhre Ruvalcaba Kelley syndrome
- Myhre School syndrome
- Myhre syndrome
- Myoadenylate deaminase deficiency
- Myocarditis
- Myoclonic dystonia
- Myoclonic progressive familial epilepsy
- Myoclonus ataxia
- Myoclonus cerebellar ataxia deafness
- Myoclonus epilepsy
- Myoclonus epilepsy partial seizure
- Myoclonus hereditary progressive distal muscular atrophy
- Myoclonus progressive epilepsy of Unverricht and Lundborg
- Myoclonus with epilepsy with ragged red fibers
- Myofibrillar lysis
- Myofibroblastic tumors
- Myoglobinuria
- Myoglobinuria dominant form
- Myoglobinuria recurrent
- Myokymia with neonatal epilepsy
- Myopathic carnitine deficiency
- Myopathy and diabetes mellitus
- Myopathy cataract hypogonadism
- Myopathy congenital multicore with external ophthalmoplegia
- Myopathy growth and mental retardation hypospadias
- Myopathy Hutterite type
- Myopathy mitochondrial cataract
- Myopathy ophthalmoplegia hypoacousia areflexia
- Myopathy with lactic acidosis and sideroblastic anemia
- Myopathy with lysis of myofibrils
- Myopathy, congenital nonprogressive with Moebius and Robin sequences
- Myopathy, desmin storage
- Myopathy, limb-girdle, with bone fragility
- Myopathy, McArdle type
- Myopathy, myotubular
- Myopathy, tubular aggregate
- Myopathy, X-linked, with excessive autophagy
- Myopia 6
- Myopia, infantile severe
- Myopia, severe
- Myositis ossificans
- Myositis ossificans post-traumatic
- Myositis ossificans progressiva
- Myositis, inclusion body
- Myostatin-related muscle hypertrophy
- Myotilinopathy
- Myotonia atrophica
- Myotonia congenita
- Myotonia mental retardation skeletal anomalies
- Myotonic dystrophy 1
- Myotonic dystrophy 2
- Myxedema
- Myxoid liposarcoma
- Myxoma-spotty pigmentation-endocrine overactivity
- Myxomatous peritonitis
- Myxozoa
- N syndrome
- Nablus mask-like facial syndrome
- N-acetyl glucosamine 6-sulfate sulfatase deficiency
- N-acetyl glutamate synthetase deficiency
- N-acetyl-alpha-D-galactosaminidase
- NADH cytochrome B5 reductase deficiency
- Naegeli syndrome
- Naguib-Richieri-Costa syndrome
- Nail dysplasia, isolated congenital
- Nail Patella syndrome
- Nakajo syndrome
- Nakamura Osame syndrome
- Nance-Horan syndrome
- Nanism due to growth hormone combined deficiency
- Narrow oral fissure short stature cone shaped epiphyses
- Nasal cavity cancer, childhood
- Nasal polyposis, familial
- Nasodigitoacoustic syndrome
- Nasopalpebral lipoma coloboma syndrome
- Nasopharyngeal cancer, childhood
- Nasopharyngeal carcinoma
- Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia
- Natal teeth, intestinal pseudoobstruction and patent ductus
- Nathalie syndrome
- Native American myopathy
- Navajo neurohepatopathy
- Navajo poikiloderma
- Naxos disease
- Necrotizing enterocolitis
- Necrotizing fasciitis
- Negative rheumatoid factor polyarthritis
- Neisseria meningitidis
- Nelson syndrome
- Nemaline myopathy 1
- Nemaline myopathy 2
- Nemaline myopathy 3
- Nemaline myopathy 4
- Nemaline myopathy 5
- Nemaline myopathy 6
- NEMO mutation with immunodeficiency
- Neonatal hemochromatosis
- Neonatal herpes
- Neonatal meningitis
- Neonatal ovarian cyst
- Neonatal progeroid syndrome
- Neonatal stroke
- Neonatal Systemic lupus erythematosus
- Neonatal-onset citrullinemia type 2
- Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
- Nephrocalcinosis
- Nephrogenic diabetes insipidus
- Nephrogenic Systemic Fibrosis
- Nephronophthisis familial adult spastic quadriparesis
- Nephropathic cystinosis
- Nephropathy deafness hyperparathyroidism
- Nephropathy familial with hyperuricemia
- Nephrosclerosis
- Nephrosis deafness urinary tract digital malformation
- Nephrotic syndrome ocular anomalies
- Nephrotic syndrome, idiopathic, steroid-resistant
- Nerve sheath neoplasm
- Nesidioblastosis, alpha cell hyperplasia, microglucagonoma and nonfunctioning islet cell tumor
- Netherton syndrome
- Neu Laxova syndrome
- Neuhauser Daly Magnelli syndrome
- Neuhauser Eichner Opitz syndrome
- Neural crest tumor
- Neural tube defect, folate-sensitive
- Neural tube defects X-linked
- Neuraminidase deficiency with beta-galactosidase deficiency
- Neuritis with brachial predilection
- Neuroaxonal dystrophy renal tubular acidosis
- Neuroaxonal dystrophy, infantile
- Neuroblastoma
- Neurocutaneous melanosis
- Neuroectodermal endocrine syndrome
- Neuroendocrine carcinoma of the cervix
- Neuroepithelioma
- Neurofaciodigitorenal syndrome
- Neurofibroma
- Neurofibromatosis type 1
- Neurofibromatosis type 2
- Neurofibromatosis type 3A
- Neurofibromatosis type 3B
- Neurofibromatosis type 4
- Neurofibromatosis type 5
- Neurofibromatosis type 6
- Neurofibromatosis-Noonan syndrome
- Neurofibrosarcoma
- Neurogenic hypertension
- Neuroleptic malignant syndrome
- Neuroma biliary tract
- Neuronal interstitial dysplasia
- Neuronal intestinal pseudoobstruction
- Neuronal intranuclear hyaline inclusion disease
- Neuronal intranuclear inclusion disease
- Neuropathy ataxia and retinis pigmentosa
- Neuropathy hereditary sensory and autonomic type 1
- Neuropathy motor sensory type 2 deafness mental retardation
- Neuropathy sensory spastic paraplegia
- Neuropathy, congenital, with arthrogryposis multiplex
- Neuropathy, distal hereditary motor, Jerash type
- Neuropathy, hereditary motor and sensory, LOM type
- Neuropathy, hereditary motor and sensory, Okinawa type
- Neuropathy, hereditary motor and sensory, Russe type
- Neurosarcoidosis
- Neurosyphilis
- Neurotoxicity syndromes
- Neutral lipid storage disease with myopathy
- Neutropenia intermittent
- Neutropenia monocytopenia deafness
- Neutropenia, severe chronic
- Neutrophilic dermatosis, acute febrile
- Nevi flammei, familial multiple
- Nevo syndrome
- Nevoid basal cell carcinoma syndrome
- Nevus of ota retinitis pigmentosa
- Nevus sebaceus of Jadassohn
- Nguyen syndrome
- Nicolaides Baraitser syndrome
- Niemann-Pick Disease
- Niemann-Pick disease type D
- Niemann-Pick disease, type C1
- Niemann-Pick disease, type C2
- Nievergelt syndrome
- Night blindness skeletal anomalies unusual facies
- Night blindness, congenital stationary
- Nijmegen Breakage Syndrome
- Nipah virus encephalitis
- Nivelon Nivelon Mabille syndrome
- Noble Bass Sherman syndrome
- Nocardiosis
- Nodular melanoma
- Noma
- Non functioning pancreatic endocrine tumor
- Non-alcoholic steatohepatitis (NASH)
- Nondystrophic myotonia
- Non-dystrophic Myotonic Disorders
- Non-Hodgkin lymphoma, childhood
- Non-Hodgkin's lymphoma, during pregnancy
- Noninsulin-dependent diabetes mellitus with deafness
- Nonkeratan-sulfate-excreting Morquio syndrome
- Non-lissencephalic cortical dysplasia
- Nonmedullary thyroid carcinoma, with or without cell oxyphilia
- Nonne-Milroy disease
- Nonseminomatous germ cell tumor
- Non-small cell lung cancer
- Non-small cell lung cancer, childhood
- Nonsyndromic hereditary sensorineural hearing loss
- Noonan like syndrome
- Noonan syndrome
- Noonan syndrome 3
- Norman Roberts lissencephaly syndrome
- Normokalemic periodic paralysis
- Norrie disease
- Norum disease
- Nose polyposis, familial
- Notalgia paresthetica
- Nova syndrome
- Novak syndrome
- Nuchal bleb, familial
- Nystagmus 1, congenital, X- linked
- Nystagmus 2, congenital, autosomal dominant
- Nystagmus 3, congenital, autosomal dominant
- Nystagmus 4, congenital, autosomal dominant
- Nystagmus, congenital motor, autosomal recessive
- Nystagmus, hereditary vertical
- Nystagmus, myoclonic
- Obstructive asymmetric septal hypertrophy
- Occipital horn syndrome
- Occult spinal dysraphism
- Ochronosis
- Ochronosis, hereditary
- Ocular Albinism type 1
- Ocular cicatricial pemphigoid
- Ocular coloboma-imperforate anus
- Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
- Ocular convergence spasm
- Ocular melanoma
- Ocular motility disorders
- Ocular Muscular Dystrophy
- Ocular toxoplasmosis
- Oculo cerebral dysplasia
- Oculo cerebro acral syndrome
- Oculo cerebro osseous syndrome
- Oculo digital syndrome
- Oculo skeletal renal syndrome
- Oculo tricho anal syndrome
- Oculo tricho dysplasia
- Oculoauriculofrontonasal syndrome
- Oculocerebral hypopigmentation syndrome Cross type
- Oculocerebral hypopigmentation syndrome type Preus
- Oculocerebral syndrome with hypopigmentation
- Oculocerebrocutaneous syndrome
- Oculocerebrorenal syndrome
- Oculocutaneous albinism type 1
- Oculocutaneous albinism type 1B
- Oculocutaneous albinism type 2
- Oculocutaneous albinism type 3
- Oculocutaneous tyrosinemia
- Oculodental syndrome Rutherfurd syndrome
- Oculodentodigital dysplasia dominant
- Oculodentodigital syndrome
- Oculo-dento-digital syndrome
- Oculodentoosseous dysplasia dominant
- Oculodentoosseous dysplasia recessive
- Oculodigitoesophagoduodenal syndrome
- Oculo-ectodermal syndrome
- Oculofaciocardiodental syndrome
- Oculo-gastrointestinal muscular dystrophy
- Oculomaxillofacial dysostosis
- Oculomelic amyoplasia
- Oculopalatoskeletal syndrome
- Oculopharyngeal muscular dystrophy
- Oculorenocerebellar syndrome
- Odonto onycho dysplasia with alopecia
- Odontoma
- Odontoma dysphagia syndrome
- Odontomicronychial dysplasia
- Odontoonychodermal dysplasia
- OFD syndrome type 8
- OFD syndrome type Figuera
- Ogilvie's syndrome
- Oguchi disease
- Ohtahara syndrome
- Okamuto Satomura syndrome
- Oligodactyly tetramelic postaxial
- Oligodendroglioma
- Oligomeganephronic renal hypoplasia
- Oligomeganephrony
- Oligophernia
- Oliver McFarlane syndrome
- Oliver syndrome
- Olivopontocerebellar atrophy
- Olivopontocerebellar atrophy deafness
- Olivopontocerebellar hypoplasia, fetal-onset
- Ollier disease
- Olmsted syndrome
- Omenn syndrome
- Omodysplasia type 1
- Omphalocele cleft palate syndrome lethal
- Omphalocele exstrophy imperforate anus
- Omphalomesenteric cyst
- Omsk hemorrhagic fever
- Onat syndrome
- Onchocerciasis
- Oncocytoma, renal
- Oncogenic osteomalacia
- Onychotrichodysplasia and neutropenia
- Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome
- Ophthalmoplegic Muscular dystrophy
- Opisthorchiasis
- Opitz Reynolds Fitzgerald syndrome
- Opitz syndrome
- Oppositional defiant disorder
- Opsismodysplasia
- Opthalmic icthyosis
- Opthalmo acromelic syndrome
- Opthalmomandibulomelic dysplasia
- Opthalmoplegia ataxia hypoacusis
- Opthalmoplegia mental retardation lingua scrotalis
- Opthalmoplegia myalgia tubular aggregates
- Opthalmoplegia progressive external scoliosis
- Optic atrophy 1
- Optic atrophy 1 and deafness
- Optic atrophy 2
- Optic atrophy 5
- Optic atrophy 6
- Optic atrophy and cataract, autosomal dominant
- Optic atrophy opthalmoplegia ptosis deafness myopia
- Optic atrophy polyneuropathy deafness
- Optic nerve disorder
- Optic nerve hypoplasia, familial bilateral
- Optic neuropathy, anterior ischemic
- Optic pathway glioma
- Opticoacoustic nerve atrophy dementia
- Oral cancer
- Oral facial digital syndrome
- Oral facial digital syndrome, type 3
- Oral facial dyskinesia
- Oral leukoplakia
- Oral lichen planus
- Oral lichenoid lesions
- Oral pharyngeal disorders
- Oral squamous cell carcinoma
- Oral submucous fibrosis
- Oral-facial cleft
- Orbital lymphangioma
- Orbital lymphoma
- Organic acidemia
- Organic brain syndrome
- Organic mood syndrome
- Organic personality syndrome
- Ornithine aminotransferase deficiency
- Ornithine Transcarbamylase Deficiency
- Ornithinemia
- Oro acral syndrome
- Orofaciodigital syndrome 4
- Orofaciodigital syndrome Gabrielli type
- Orofaciodigital syndrome Thurston type
- Orofaciodigital syndrome type 2
- Orofaciodigital syndrome type1
- Orofaciodigital syndrome, Shashi type
- Oropharyngeal cancer, adult
- Oropharyngeal cancer, childhood
- Orotic aciduria hereditary
- Orotic aciduria purines-pyrimidines
- Oroticaciduria 1
- Orotidylic decarboxylase deficiency
- Orstavik Lindemann Solberg syndrome
- Orthostatic intolerance
- Oslam syndrome
- Osler Rendu Weber syndrome 3
- Osler-Rendu-Weber syndrome 2
- OSMED Syndrome
- Ossicular Malformations, familial
- Ossification of the posterior longitudinal ligament of the spine
- Osteoarthropathy of fingers familial
- Osteochondritis deformans juvenile
- Osteochondritis dissecans
- Osteochondrodysplasia thrombocytopenia hydrocephalus
- Osteochondroma
- Osteochondromatosis
- Osteodysplasia familial Anderson type
- Osteodysplastic dwarfism Corsello type
- Osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
- Osteoectasia familial
- Osteogenesis imperfecta
- Osteogenesis imperfecta congenita, microcephaly, and cataracts
- Osteogenesis imperfecta, Levin type
- Osteogenesis imperfecta, type 1
- Osteogenesis imperfecta, type 1A
- Osteogenesis imperfecta, type 2A
- Osteogenesis imperfecta, type 2B
- Osteogenesis imperfecta, type 3
- Osteogenesis imperfecta, type 4
- Osteogenesis imperfecta, type 5
- Osteogenesis imperfecta, type 6
- Osteogenesis imperfecta, type 7
- Osteogenesis imperfecta, type VIII
- Osteogenic sarcoma
- Osteoglophonic dwarfism
- Osteolysis hereditary multicentric
- Osteolysis syndrome recessive
- Osteomalacia
- Osteomyelitis
- Osteonecrosis
- Osteopathia striata cranial sclerosis
- Osteopathia striata with pigmentary dermopathy including white forelock
- Osteopetrosis
- Osteopetrosis and infantile neuroaxonal dystrophy
- Osteopetrosis autosomal dominant type 1
- Osteopetrosis lethal
- Osteopetrosis with renal tubular acidosis
- Osteopetrosis, mild autosomal recessive form
- Osteopetrosis, renal tubular acidosis and basal ganglia calcification
- Osteopoikilosis
- Osteopoikilosis and dacryocystitis
- Osteoporosis macrocephaly mental retardation blindness
- Osteoporosis oculocutaneous hypopigmentation syndrome
- Osteoporosis-pseudoglioma syndrome
- Osteosarcoma limb anomalies erythroid macrocytosis
- Osteosclerose type Stanescu
- Osteosclerosis abnormalities of nervous system and meninges
- Osteosclerosis autosomal dominant Worth type
- Osteosclerosis with ichthyosis and premature ovarian failure
- Ota Kawamura Ito syndrome
- Otodental dysplasia
- Otofaciocervical syndrome
- Otoonychoperoneal syndrome
- Oto-Palatal-digital syndrome
- Oto-Palato-digital syndrome type 1
- Oto-palato-digital syndrome, type 2
- Otosclerosis
- Otosclerosis, familial
- Ouvrier Billson syndrome
- Ovarian cancer
- Ovarian cancer, childhood
- Ovarian carcinosarcoma
- Ovarian dwarfism
- Ovarian dwarfism as part of Turner Syndrome
- Ovarian epithelial cancer
- Ovarian germ cell tumor
- Ovarian insufficiency due to FSH resistance
- Ovarian insufficiency, familial
- Ovarian low malignant potential tumor
- Ovarian remnant syndrome
- Ovarian small cell carcinoma
- Overfolded helix
- Overgrowth radial ray defect arthrogryposis
- Overgrowth syndrome type Fryer
- Overhydrated hereditary stomatocytosis
- Oxalosis
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