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Rare Disease Database

Search Results for: M

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Machado-Joseph Disease

Also known as: Autosomal Dominant Spinocerebellar Degeneration, Azorean Neurologic Disease, Joseph Disease, Machado Disease, MJD, Nigrospinodentatal Degeneration, Spinocerebellar Ataxia Type III (SCA 3), Striatonigral Degeneration, Autosomal Dominant Type

Madelung’s Disease

Also known as: benign symmetrical lipomatosis (BSL), cephalothoracic lipodystrophy, launois-bensaude syndrome, multiple symmetric lipomatosis (MSL)


Also known as: Acute Malaria, Ague, Autochthonous Malaria, Chronic Malaria, Imported Malaria, Induced Malaria, Intermittent Malaria, Jungle Fever, Paludism, Relapsing Malaria, Swamp Fever, Therapeutic Malaria

Mallory Weiss Syndrome

Also known as: Gastroesophageal Laceration-Hemorrhage, Mallory-Weiss Laceration, Mallory-Weiss Tear

Maple Syrup Urine Disease

Also known as: BCKD Deficiency, branched-chain ketoacid dehydrogenase deficiency, branched-chain ketoaciduria, MSUD

Marcus Gunn Phenomenon

Also known as: Marcus Gunn (Jaw-Winking) Syndrome, Marcus Gunn Ptosis (with jaw-winking), Maxillopalpebral Synkinesis

Marinesco-Sjögren Syndrome

Also known as: Garland-Moorhouse syndrome, hereditary oligophrenic cerebello-lental degeneration, Marinesco-Garland syndrome, MSS

Maroteaux Lamy Syndrome

Also known as: arylsulfatase-B Deficiency, MPS 6, MPS type VI, MPS VI, mucopolysaccharidosis type VI, polydystrophic dwarfism

Marshall Syndrome

Also known as: deafness-myopia-cataract-saddle nose, Marshall type

May Hegglin Anomaly

Also known as: Dohle Leukocyte Inclusions with Giant Platelets, Dohle's Bodies-Myelopathy, Hegglin's Disease, Leukocytic Inclusions with Platelet Abnormality, Macrothrombocytopenia with Leukocyte Inclusions, MHA

Mayer-Rokitansky-Küster-Hauser Syndrome

Also known as: congenital absence of the uterus and vagina (CAUV), genital renal ear syndrome (GRES), MRKH, MRKH syndrome, Mullerian agenesis, Mullerian aplasia, Rokitansky syndrome

McCune Albright Syndrome

Also known as: Albright syndrome, MAS, osteitis fibrosa disseminata, PFD, POFD, polyostotic, fibrous dysplasia, precocious puberty with polyostotic fibrosis and abnormal pigmentation


Also known as: morbilli, nine day measles, rubeola

Meckel Syndrome

Also known as: dysencephalia splanchnocystica, Gruber syndrome, Meckel-Gruber syndrome, MES, MKS

Medullary Sponge Kidney

Also known as: Cacchi-Ricci Disease, Cystic Dilatation of Renal Collecting Tubes, Precalyceal Canalicular Ectasia, Sponge Kidney, Tubular Ectasia


Also known as: primitive neuroectodermal tumor of the posterior fossa

MEF2C Deficiency

Also known as: 5q14.3 microdeletion syndrome, MEF2C haploinsufficiency syndrome, MRD20

Meier-Gorlin Syndrome

Also known as: MGS, ear, patella, short stature syndrome, microtia, absent patellae, micrognathia syndrome

Meige Syndrome

Also known as: Brueghel Syndrome, Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome, Segmental Cranial Dystonia

Melanoma, Malignant

Also known as: Melanoblastoma, Melanocarcinoma, Melanoepithelioma, Melanoma, Melanosarcoma, Melanoscirrhus, Melanotic Carcinoma, Nevus Pigmentosa

MELAS Syndrome

Also known as: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episod, Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Meleda Disease

Also known as: Keratosis Palmoplantaris Transgradiens of Siemens, Mal de Meleda

Ménière’s Disease

Also known as: Endolymphatic Hydrops, Labyrinthine Hydrops, Labyrinthine Syndrome, Lermoyez Syndrome


Also known as: Meningococcal Disease, Meningococcemia-Meningitis

Menkes Disease

Also known as: Copper Transport Disease, Kinky Hair Disease, Steely Hair Disease, Trichopoliodystrophy, X-linked Copper Deficiency, MD

Merkel Cell Carcinoma

Also known as: cutaneous neuroendocrine carcinoma, Merkel cell skin cancer, MCC, neuroendocrine carcinoma of the skin, Merkel cell cancer

MERRF Syndrome

Also known as: myoclonic epilepsy associated with ragged red fibers, MERRF, Fukuhara syndrome, myoclonus epilepsy associated with ragged red fibers, myoencephalopathy ragged-red fiber disease

Metachromatic Leukodystrophy

Also known as: MLD, diffuse brain sclerosis, metachromatic leukoencephalopathy, ARSA deficiency, arylsulfatase A deficiency

Metatropic Dysplasia I

Also known as: Chondrodystrophy, Hyperplastic Form, Dwarfism, Metatropic, Metatropic Dwarfism, Metatropic Dwarfism Syndrome, Metatropic Dysplasia

Microvillus Inclusion Disease

Also known as: congenital familial protracted diarrhea, congenital microvillus atrophy, Davidson's disease, familial enteropathy, microvillus, MVID

Mikulicz Syndrome

Also known as: Dacryosialoadenopathia, Dacryosialoadenopathy, Mikulicz-Radecki Syndrome, Mikulicz-Sjogren Syndrome, Mikulicz Syndrome, von Mikulicz Syndrome

Miller Syndrome

Also known as: POADS, Genee-Wiedemann syndrome, postaxial acrofacial dysostosis

Mitral Valve Prolapse Syndrome

Also known as: Barlow Syndrome, Billowing Mitral Leaflet Syndrome, Click-Murmur Syndrome, Floppy Valve Syndrome, Mitral Click-Murmur Syndrome, Mitral Leaflet Syndrome, MVP, MVPS, Systolic Click-Murmur Syndrome

MN1 C-Terminal Truncation Syndrome

Also known as: MCTT syndrome , CEBALID syndrome (craniofacial defects, dysmorphic Ears, structural brain abnormalities, expressive Language delay, and impaired intellectual development) (OMIM #618774)

Moebius Syndrome

Also known as: congenital facial diplegia syndrome, congenital oculofacial paralysis, MBS, Mobius syndrome, Moebius sequence

Mosaic Trisomy 22

Also known as: mosaic trisomy chromosome 22, trisomy 22 mosaicism

Mosaic Trisomy 9

Also known as: trisomy 9 mosaic, trisomy 9 mosaicism, trisomy 9 mosaicism syndrome, mosaic trisomy 9 syndrome, chromosome 9, trisomy mosaic

Mucha Habermann Disease

Also known as: acuta guttale parapsoriasis, Habermann disease, parapsoriasis varioliformis acuta, pityriasis lichenoides et varioliformis acuta, PLEVA

Mucolipidosis IV

Also known as: Berman Syndrome, Ganglioside Neuraminidase Deficiency, Ganglioside Sialidase Deficiency, ML Disorder IV, ML IV, Neuraminidase Deficiency, Sialolipidosis

Mucopolysaccharidosis Type VII

Also known as: beta-glucuronidase deficiency, GUSB deficiency, MPS disorder, type VII, MPS VII, MPS 7, mucopolysaccharidosis 7, Sly syndrome

Mulibrey Nanism

Also known as: Muscle-liver-brain Nanism, Perheentupa Syndrome, Pericardial Constriction and Growth Failure

Multiple Myeloma

Also known as: Kahler disease, myelomatosis, plasma cell myeloma

Multiple System Atrophy

Also known as: MSA, progressive autonomic failure with multiple system atrophy, Shy-Drager syndrome (SDS), sporadic olivopontocerebellar atrophy (sOPCA), striatonigral degeneration (SND


Also known as: Infective Parotitis, Parotitis

Myhre Syndrome

Also known as: laryngotracheal stenosis, arthropathy, prognathism, and short stature, LAPS Syndrome


Also known as: Inflammatory cardiomyopathy, Idiopathic myocarditis, Viral cardiomyopathy

Myotonic Dystrophy

Also known as: Curschmann-Batten-Steinert syndrome, DM, dystrophia myotonia, myotonia atrophica, Steinert disease, myotonic muscular dystrophy, Proximal myotonic myopathy (PROMM), Ricker syndrome