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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
Subdivisions: Machado-Joseph Disease Type III (MJD-III), Machado-Joseph Disease Type II (MJD-II), Machado-Joseph Disease Type I (MJD-I)


Also known as: Enlarged Tongue, Giant Tongue
Subdivisions: Congenital Macroglossia

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
Subdivisions: Aesthetivoautumnal Fever, Algid Malaria, Benign Tertian Malaria, Bilious Remittent Malaria, Blackwater Fever, Cerebral Malaria, Double Tertian Malaria, Dysentric Algid Malaria, Falciparum Fever, Gastric Malaria, Hemorrhagic Malaria, Malaria Comatosa, Malignant Tertian Fever, Malignant Tertian Malaria, Nonan Malaria, Ovale Tertian Malaria, Pernicious Malaria, Plasmodium Falciparum Malaria, Plasmodium Malariae Malaria, Plasmodium Ovale Malaria, Plasmodium Vivax Malaria, Quartan Fever, Quartan Malaria, Quotidian Fever, Quotidian Malaria, Remittent Malaria, Tertian Fever, Tertian Malaria, Vivax Fever

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
Subdivisions: classic MSUD, intermediate MSUD, intermittent MSUD, thiamine-responsive 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


Also known as: clonal mast cell disease
Subdivisions: cutaneous mastocytosis (CM), indolent systemic mastocytosis (ISM), systemic smoldering mastocytosis (SSM), systemic mastocytosis with an associated hematologic neoplasm (SM-AHN), aggressive systemic mastocytosis (ASM), mast cell leukemia (MCL), mast cell sarcoma (MCS)

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
Subdivisions: isolated Mullerian aplasia, Mayer-Rokitansky-Kuster-Hauser syndrome type I, Mayer-Rokitansky-Kuster-Hauser syndrome type II, MUllerian duct aplasia-Renal dysplasia-Cervical Somite anomalies Assoc., MURCS association, Rokitansky sequence

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

MDR3 Deficiency

Subdivisions: low phospholipid associated cholelithiasis, progressive familial intrahepatic cholestasis type 3 (PFIC3), cholestasis of pregnancy


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
Subdivisions: Acral Lentiginous Melanoma, Juvenile Melanoma, Malignant, Malignant Lentigo (Melanoma)

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

Melnick Needles Syndrome

Also known as: Melnick-Needles osteodysplasty, MNS, osteodysplasty of Melnick and Needles
Subdivisions: No subdivisions found

Ménière’s Disease

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


Also known as: meningeal tumor
Subdivisions: benign (grade I) meningioma, atypical (grade II) meningioma, anaplastic or malignant (grade III) meningioma


Subdivisions: Adult Meningitis, Infantile Meningitis, Neonatal Meningitis, Waterhouse-Friderichsen Syndrome, Meningitis


Also known as: Meningococcal Disease, Meningococcemia-Meningitis
Subdivisions: Chronic Meningococcemia, Fulminant Meningococcemia (Waterhouse-Friderichsen Syndrome)

Menkes Disease

Also known as: Copper Transport Disease, Kinky Hair Disease, Steely Hair Disease, Trichopoliodystrophy, X-linked Copper Deficiency, MD
Subdivisions: classic Menkes disease, occipital horn syndrome

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


Also known as: malignant mesothelioma, MM
Subdivisions: malignant pericardial mesothelioma, malignant peritoneal mesothelioma, malignant pleural mesothelioma

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

Mevalonate Kinase Deficiency

Also known as: MKD
Subdivisions: hyper IgD syndrome (HIDS; hyperimmunoglobulinemia D with periodic fever), mevalonate aciduria

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

Mixed Cryoglobulinemia

Also known as: Cryoglobulinemic Vasculitis
Subdivisions: Essential Mixed Cryoglobulinemia, Type I Cryoglobulinemia, Type II Cryoglobulinemia, Type III Cryoglobulinemia

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
Subdivisions: febrile ulceronecrotic Mucha-Habermann disease, FUMHD

Mucolipidosis IV

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


Also known as: MPS, MPS disorder
Subdivisions: MPS 1 H/S (Hurler/Scheie syndrome), MPS I H (Hurler disease), MPS II-(Hunter syndrome), MPS III A, B, C, and D (Sanfillipo syndrome), MPS I S (Scheie syndrome), MPS IV A and B (Morquio syndrome), MPS IX (hyaluronidase deficiency), MPS VII (Sly syndrome), MPS VI (Maroteaux-Lamy syndrome)

Mucopolysaccharidosis IV

Also known as: MPS IV, mucopolysaccharidosis IV, Morquio syndrome
Subdivisions: MPS IVA, MPS IVB

Mucopolysaccharidosis Type I

Also known as: alpha-L-iduronidase deficiency, IDUA deficiency, MPS I
Subdivisions: attenuated mucopolysaccharidosis type I, severe mucopolysaccharidosis type I, Hurler syndrome (reserved for severely affected individuals), Hurler-Scheie syndrome (preferred term is attenuated mucopolysaccharidosis type I), Scheie syndrome (preferred term is attenuated mucopolysaccharidosis type I)

Mucopolysaccharidosis Type II

Also known as: MPS II, Hunter syndrome, I2S deficiency , iduronate 2-sulfatase deficiency
Subdivisions: non-neuronopathic , neuronopathic

Mucopolysaccharidosis Type III

Also known as: MPS III, mucopolysaccharide storage disease type III, Sanfilippo syndrome, Sanfilippo disease
Subdivisions: MPS IIIA (Sanfilippo syndrome type A), MPS IIIB (Sanfilippo syndrome type B), MPS IIIC (Sanfilippo syndrome type C), MPS IIID (Sanfilippo syndrome type D)

Mucopolysaccharidosis Type VII

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

Mucous Membrane Pemphigoid

Also known as: cicatricial pemphigoid, CP, MMP, mucous membrane pemphigoid
Subdivisions: Brunsting-Perry syndrome, localized cicatricial pemphigoid, vegetating cicatricial pemphigoid

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
Subdivisions: extramedullary plasmacytoma, nonsecretory myeloma, osteosclerotic myeloma, plasma cell leukemia, smoldering myeloma, solitary plasmacytoma of bone

Multiple Sclerosis

Also known as: MS
Subdivisions: relapsing remitting MS, secondary-progressive MS, primary progressive MS, clinical isolated syndrome, radiologically isolated syndrome , tumefactive MS, pediatric MS

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
Subdivisions: MSA-C (cerebellar phenotype), MSA-P (parkinsonian phenotype)


Also known as: Infective Parotitis, Parotitis

Myasthenia Gravis

Also known as: MG
Subdivisions: generalized myasthenia gravis, ocular myasthenia gravis, transient neonatal myasthenia gravis

Mycosis Fungoides

Also known as: Granuloma Fungoides
Subdivisions: Vidal-Brocq Mycosis Fungoides

Myhre Syndrome

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


Also known as: Inflammatory cardiomyopathy, Idiopathic myocarditis, Viral cardiomyopathy
Subdivisions: Viral myocarditis, Giant cell myocarditis, Lymphocytic myocarditis, Eosinophilic myocarditis, Granulomatous myocarditis

Myoclonic Atonic Epilepsy

Also known as: Doose syndrome, epilepsy with myoclonic-astatic seizures, epilepsy with myoclonic-atonic seizures (EMAS), epilepsy with myoclonic-astatic crisis, myoclonic astatic epilepsy, MAE

Myofibrillar Myopathy

Subdivisions: alpha-B crystallinopathy, BAG3-related myofibrillar myopathy, desminopathy, filaminopathy, myotilinopathy, ZASPopathy

Myotonia Congenita

Subdivisions: Becker Disease; Myotonia Congenita, Autosomal Recessive (MCR); Generalized, Thomsen Disease (THD); Myotonia Congenita, Autosomal Dominant

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
Subdivisions: myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2)