Difference between revisions of "Sand Box"

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(Tag: 2017 source edit)
(Tag: 2017 source edit)
Line 17,723: Line 17,723:
 
See [https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia X-linked hypophosphatemia]  
 
See [https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia X-linked hypophosphatemia]  
 
* '''[[X-linked achromatopsia incomplete]]'''
 
* '''[[X-linked achromatopsia incomplete]]'''
See [https://rarediseases.info.nih.gov/diseases/917/blue-cone-monochromatism Blue cone monochromatism]
 
* '''[https://rarediseases.info.nih.gov/diseases/555/x-linked-adrenal-hypoplasia-congenita X-linked adrenal hypoplasia congenita]
 
* '''[https://rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy X-linked adrenoleukodystrophy]
 
* '''[https://rarediseases.info.nih.gov/diseases/1033/x-linked-agammaglobulinemia X-linked agammaglobulinemia]
 
 
* '''[[X-linked AHC]]'''
 
* '''[[X-linked AHC]]'''
 
See [https://rarediseases.info.nih.gov/diseases/555/x-linked-adrenal-hypoplasia-congenita X-linked adrenal hypoplasia congenita]  
 
See [https://rarediseases.info.nih.gov/diseases/555/x-linked-adrenal-hypoplasia-congenita X-linked adrenal hypoplasia congenita]  

Revision as of 21:33, 26 September 2019

See Blau syndrome

See Deafness conductive ptosis skeletal anomalies

See 47, XYY syndrome

See Camptodactyly arthropathy coxa vara pericarditis syndrome

See Linear nevus sebaceous syndrome

See Tièche-Jadassohn nevus

See Tièche-Jadassohn nevus

See Epilepsy juvenile absence

See PMM2-CDG (CDG-Ia)

See Fibromatosis multiple non ossifying

See Osteofibrous dysplasia

See Ichthyosis alopecia eclabion ectropion mental retardation

See Typhus

See Cone-rod dystrophy amelogenesis imperfecta

See Juvenile amyotrophic lateral sclerosis

See Intellectual disability-spasticity-ectrodactyly syndrome

See Neuronal ceroid lipofuscinosis 2

See Juvenile myoclonic epilepsy

See Spondylometaphyseal dysplasia Algerian type

See Spondylothoracic dysostosis

See Jeune syndrome

See Marcus Gunn phenomenon

See Jacobsen syndrome

See Johanson-Blizzard syndrome

See Joubert syndrome

See Joubert syndrome 2

See Joubert syndrome with ocular anomalies

See Joubert syndrome with renal anomalies

See Juvenile dermatomyositis

See Japanese encephalitis

See Junctional epidermolysis bullosa

See Epidermolysis bullosa

See Junctional epidermolysis bullosa

See Epidermolysis bullosa

See Epidermolysis bullosa

See Epidermolysis bullosa

See Junctional epidermolysis bullosa

See Epidermolysis bullosa

See Junctional epidermolysis bullosa

See Junctional epidermolysis bullosa

See Epidermolysis bullosa

See Jejunal atresia

See Epidermolysis bullosa

See Spondylometaphyseal dysplasia, Kozlowski type

See Spondylometaphyseal dysplasia, Kozlowski type

See Lymphocytic infiltrate of Jessner

See Lymphocytic infiltrate of Jessner

See Jeune syndrome

See Jeune syndrome

See Juvenile temporal arteritis

See Juvenile Huntington disease

See Juberg-Hayward syndrome

See Juvenile polyposis syndrome

See Jervell Lange-Nielsen syndrome

See Jervell and Lange-Nielsen syndrome 2

See Juvenile myoclonic epilepsy

See Juvenile myelomonocytic leukemia

See Juberg Marsidi syndrome

See Linear nevus sebaceous syndrome

See Primary open angle glaucoma juvenile onset 1

See Autosomal dominant hyper IgE syndrome

See Johnson neuroectodermal syndrome

See JMP syndrome

See Hydrocephalus-cleft palate-joint contractures syndrome

See Johnston Aarons Schelley syndrome

See Familial joint instability syndrome

See Familial joint instability syndrome

See Prosthetic joint infection

See Alopecia areata - not a rare disease

See Recurrent respiratory papillomatosis

See Juvenile-onset small-fiber polyneuropathy

See Joubert syndrome

See Joubert syndrome with ocular anomalies

See Joubert syndrome with renal anomalies

See Joubert syndrome with oculorenal anomalies

See Joubert syndrome with oculorenal anomalies

See COACH syndrome

See COACH syndrome

See Joubert syndrome with oculorenal anomalies

See Orofaciodigital syndrome 6

See Joubert syndrome with oculorenal anomalies

See Joubert syndrome

See Autosomal recessive juvenile Parkinson disease

See Juvenile Paget disease

See Juvenile Paget disease

See Juvenile primary lateral sclerosis

See Juvenile dermatomyositis

See Juvenile temporal arteritis

See Juvenile polyposis syndrome

See Joubert syndrome with oculorenal anomalies

See COACH syndrome

See Joubert syndrome with oculorenal anomalies

See PCDH19-related female-limited epilepsy

See Juberg Marsidi syndrome

See Juberg Marsidi syndrome

See Hygroma cervical

See Epidermolysis bullosa

See Epidermolysis bullosa

See Junctional epidermolysis bullosa

See Epidermolysis bullosa

See Epidermolysis bullosa

See Epidermolysis bullosa

See Junctional epidermolysis bullosa

See Junctional epidermolysis bullosa

See Epidermolysis bullosa

See Epidermolysis bullosa

See Epilepsy juvenile absence

See Juvenile idiopathic arthritis - not a rare disease

See Secretory breast carcinoma

See Secretory breast carcinoma

See Marinesco-Sjogren-like syndrome (MSLS)

See Juvenile amyotrophic lateral sclerosis

See Juvenile idiopathic arthritis - not a rare disease

See Juvenile temporal arteritis

See Enthesitis-related juvenile idiopathic arthritis

See Juvenile temporal arteritis

See Gigantomastia

See Pyramidal molars-abnormal upper lip syndrome

See Hemochromatosis type 2

See Meesmann corneal dystrophy

See Hemochromatosis type 2

See Hyaline fibromatosis syndrome

See Juvenile polyposis syndrome

See Scheuermann disease

See Recurrent respiratory papillomatosis

See Laryngeal papillomatosis

See Juvenile amyotrophic lateral sclerosis

See Juvenile macular degeneration and hypotrichosis

See Monomelic amyotrophy

See Monomelic amyotrophy

See Juvenile dermatomyositis

See Senior Loken Syndrome

See Neuronal ceroid lipofuscinosis 3

See Juvenile Huntington disease

See Stargardt disease

See Pernicious anemia - not a rare disease

See Juvenile Paget disease

See Autosomal recessive juvenile Parkinson disease

See Pilocytic astrocytoma

See Juvenile polymyositis

See Polyarticular onset juvenile idiopathic arthritis

See Polyarticular onset juvenile idiopathic arthritis

See Juvenile temporal arteritis

See Psoriatic juvenile idiopathic arthritis

See Juvenile idiopathic arthritis - not a rare disease

See Enthesitis-related juvenile idiopathic arthritis

See Multiple sulfatase deficiency

See Diabetes mellitus type 1 - not a rare disease

See Recurrent respiratory papillomatosis

See Best vitelliform macular dystrophy

See Macular telangiectasia type 2 - not a rare disease

See Jackson-Weiss syndrome

See Kabuki syndrome

See Scapuloperoneal syndrome, neurogenic, Kaeser type

See Paternal uniparental disomy of chromosome 14

See Multiple myeloma

See Kallmann syndrome 1

See Kallmann syndrome 2

See Kallmann syndrome 3

See Kallmann syndrome 4

See Kallmann syndrome 5

See Kallmann syndrome 6

See Leishmaniasis

See Osteopenia and sparse hair

See Kallikrein hypertension

See Kallmann syndrome 1

See Kallmann syndrome 1

See Kallmann syndrome

See Koolen de Vries syndrome

See Mesomelic dysplasia Kantaputra type

See Kaposi sarcoma

See Kaposiform Hemangioendothelioma

See Kaposi sarcoma

See Infantile neuroaxonal dystrophy

See Basedow's coma

See Split hand split foot nystagmus

See Hemangioma thrombocytopenia syndrome

See Hemangioma thrombocytopenia syndrome

See Maffucci syndrome

See Schistosomiasis

See McKusick Kaufman syndrome

See Kawasaki disease

See Microcephaly deafness syndrome

See Keratoconus

See Birk-Barel syndrome

See Kenny-Caffey syndrome type 1

See Kenny-Caffey syndrome type 2

See Kyphoscoliotic Ehlers-Danlos syndrome

See Kyphoscoliotic Ehlers-Danlos syndrome

See Nasodigitoacoustic syndrome

See FG syndrome

See Plummer Vinson syndrome

See Plummer Vinson syndrome

See PAGOD syndrome

See Kenny-Caffey syndrome type 2

See Kenny-Caffey syndrome type 1

See Gaucher disease

See Gaucher disease

See Keratoconjunctivitis sicca - not a rare disease

See KID syndrome

See KID syndrome

See Ichthyosiform erythroderma, corneal involvement, deafness

See KID syndrome

See Muir-Torre syndrome

See Actinomycosis

See Vohwinkel syndrome

See Keratosis palmoplantaris striata 3

See Punctate palmoplantar keratoderma type 2

See Keratoderma palmoplantar deafness

See Cardiomyopathy dilated with woolly hair and keratoderma

See Basaran Yilmaz syndrome

See Palmoplantar keratoderma

See Punctate palmoplantar keratoderma type I

See Keratosis palmoplantaris striata 1

See Keratoderma palmoplantar spastic paralysis

See Judge Misch Wright syndrome

See Punctate palmoplantar keratoderma type I

See Peeling skin syndrome

See Corneal neuropathic disease

See Papillon Lefevre syndrome

See Peeling skin syndrome

See Keratoderma palmoplantaris transgrediens

See Focal palmoplantar and gingival keratoderma

See Darier disease

See Keratosis follicularis spinulosa decalvans

See Epidermolytic palmoplantar keratoderma

See Tylosis with esophageal cancer

See Papillon Lefevre syndrome

See Naxos disease

See Punctate palmoplantar keratoderma type I

See Meleda disease

See Keratoderma palmoplantaris transgrediens

See Tyrosinemia type 2

See Tylosis with esophageal cancer

See Papillon Lefevre syndrome

See Haim-Munk syndrome

See Tylosis with esophageal cancer

See Papillon Lefevre syndrome

See Ulerythema ophryogenesis

See Seborrheic keratosis - not a rare disease

See Seborrheic keratosis - not a rare disease

See Kernicterus

See Maple syrup urine disease

See SCOT deficiency

See Richards-Rundle syndrome

See Richards-Rundle syndrome

See Richards-Rundle syndrome

See Essential fructosuria - not a rare disease

See Propionic acidemia

See Propionic acidemia

See Kyasanur Forest disease

See Kyasanur Forest disease

See Keratosis follicularis spinulosa decalvans

See Kaposiform Hemangioendothelioma

See Kaposiform Hemangioendothelioma

See Vohwinkel syndrome

See KSHV inflammatory cytokine syndrome

See KID syndrome

See Ichthyosiform erythroderma, corneal involvement, deafness

See KID syndrome

See Renal medullary carcinoma

See Kienbock's disease

See Kikuchi disease

See Kikuchi disease

See Kikuchi disease

See Kikuchi disease

See Pallister-Killian mosaic syndrome

See Pallister-Killian mosaic syndrome

See Karyomegalic interstitial nephritis

See King Denborough syndrome

See Menkes disease

See Hair defect-photosensitivity-intellectual disability syndrome

See Tricho-dento-osseous syndrome 1

See Opsoclonus-myoclonus syndrome

See Dermatoosteolysis Kirghizian type

See Dystelephalangy

See Dowling-Degos disease

See Spastic paraplegia 15

See Optic atrophy 1

See Klatskin tumor

See Klebsiella infection

See Kleeblattschaedel syndrome

See Kleine Levin syndrome

See Waardenburg syndrome type 3

See Klinefelter syndrome - not a rare disease

See Klippel-Trenaunay syndrome

See MURCS association

See Segmentation syndrome 1

See Klippel-Trenaunay syndrome

See Klippel-Trenaunay syndrome

See Klumpke paralysis

See Hemangioma thrombocytopenia syndrome

See Kabuki syndrome

See DYT-KMT2B

See Prosthetic joint infection

See Knobloch syndrome

See Split hand split foot nystagmus

See Knuckle pads, leuconychia and sensorineural deafness

See Knuckle pads, leuconychia and sensorineural deafness

See Kocher-Debre-Semelaigne syndrome

See Tuberculosis

See Kohler disease

See Kohler disease

See Kohler disease

See Freiberg's disease

See Malignant Atrophic Papulosis

See Malignant Atrophic Papulosis

See Malignant Atrophic Papulosis

See Kohlschutter Tonz syndrome

See Hereditary hyperekplexia

See Satoyoshi syndrome

See Osteochondritis dissecans

See Osteochondritis dissecans

See Koro

See Kaufman oculocerebrofacial syndrome

See Lichen planopilaris

See Severe congenital neutropenia autosomal recessive 3

See Sacral meningocele conotruncal heart defects

See Keratoconus posticus circumscriptus

See Krabbe disease

See Presenile dementia, Kraepelin type

See Oculocerebral syndrome with hypopigmentation

See Noonan syndrome

See Cardiomyopathy cataract hip spine disease

See Cardiomyopathy cataract hip spine disease

See Peters plus syndrome

See Parkinson disease type 9

See Krukenberg carcinoma

See Krukenberg carcinoma

See Kaposi sarcoma

See Kearns-Sayre syndrome

See Klippel-Trenaunay syndrome

See Klippel-Trenaunay syndrome

See Parkinson disease type 9

See Adult neuronal ceroid lipofuscinosis

See Adult neuronal ceroid lipofuscinosis

See Autosomal dominant neuronal ceroid lipofuscinosis 4B

See Autosomal dominant neuronal ceroid lipofuscinosis 4B

See Spinal muscular atrophy type 3

See Auralcephalosyndactyly

See Kuskokwim disease

See Pachygyria-intellectual disability-epilepsy syndrome

See Keratolytic winter erythema

See Spinal muscular atrophy type 3

See Cardiomyopathy dilated with woolly hair and keratoderma

See Hydroxykynureninuria

See Kyphoscoliotic Ehlers-Danlos syndrome

See Kyphoscoliotic Ehlers-Danlos syndrome

See Kyphoscoliotic Ehlers-Danlos syndrome

See Berk-Tabatznik syndrome

See Kyrle disease

See L1 syndrome

See L-2-hydroxyglutaric aciduria

See Vocal cord dysfunction familial

See Brittle diabetes

See Perilymphatic fistula

See Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema

See Lacrimo-auriculo-dento-digital syndrome

See Lactate dehydrogenase A deficiency

See Lactate dehydrogenase B deficiency

See Zuska's disease

See Galactocele

See Pyruvate dehydrogenase phosphatase deficiency

See Zuska's disease

See Galactocele

See Neutrophil-specific granule deficiency

See Prolactinoma

See Linear IgA disease

See Leukocyte adhesion deficiency type 1

See Leukocyte adhesion deficiency type 1

See SLC35C1-CDG (CDG-IIc)

See Lacrimo-auriculo-dento-digital syndrome

See Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay

See Leukocyte adhesion deficiency type 1

See Lafora disease

See Ectropion inferior cleft lip and or palate

See Laing distal myopathy

See Lysosomal acid lipase deficiency

See Lymphangioleiomyomatosis

See Acute myeloblastic leukemia with maturation

See Congenital muscular dystrophy type 1A

See Carney complex

See Lambert Eaton myasthenic syndrome

See Microcephaly, holoprosencephaly, and intrauterine growth retardation

See Ichthyosis lamellar 1

See Ichthyosis lamellar, autosomal dominant

See Ichthyosis lamellar 1

See Ichthyosis lamellar 2

See Ichthyosis lamellar 3

See Congenital muscular dystrophy type 1A

See Deafness with labyrinthine aplasia microtia and microdontia (LAMM)

See Facioscapulohumeral muscular dystrophy

See Guillain-Barre syndrome

See Guillain-Barre syndrome

See Trichorhinophalangeal syndrome type 2

See Achondrogenesis

See Gastroschisis

See Myhre syndrome

See Lymphoma, large-cell, immunoblastic

See Giant congenital nevus

See Pachygyria

See Taurodontism

See Enlarged vestibular aqueduct syndrome

See Balantidiasis

See Laron syndrome

See Growth hormone insensitivity with immunodeficiency

See Laron syndrome

See Larsen-like syndrome

See Larsen-like syndrome

See Vocal cord dysfunction familial

See Shprintzen omphalocele syndrome

See Laryngeal cancer

See Spasmodic dysphonia

See Spasmodic dysphonia

See Recurrent respiratory papillomatosis

See Gay Feinmesser Cohen syndrome

See Laryngomalacia

See Epidermolysis bullosa

See Epidermolysis bullosa

See Laryngeal cleft

See Myhre syndrome

See Laryngeal cleft

See Laryngeal cleft

See Laryngeal cleft

See LRBA deficiency

See Fuchs endothelial corneal dystrophy - not a rare disease

See Late-Onset Familial Alzheimer Disease

See Late-Onset Familial Alzheimer Disease

See Ullrich congenital muscular dystrophy

See Biotinidase deficiency

See Group B strep disease in newborns

See Junctional epidermolysis bullosa

See Biotinidase deficiency

See Deafness, autosomal dominant nonsyndromic sensorineural 17

See Samson Viljoen syndrome

See Meralgia paresthetica

See Wallenberg syndrome

See X-linked visceral heterotaxy 1

See Heterotaxy

See Familial amyloidosis, Finnish type

See Lattice corneal dystrophy type 3A

See Amyloidosis corneal

See Laugier-Hunziker syndrome

See Multiple symmetric lipomatosis

See Laurin-Sandrow syndrome

See Acquired generalized lipodystrophy

See Acquired generalized lipodystrophy

See Early-onset parkinsonism-intellectual disability syndrome

See Early-onset parkinsonism-intellectual disability syndrome

See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

See Laryngeal cleft

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Fish-eye disease

See Leukoencephalopathy, cerebral calcifications, and cysts

See Lethal congenital contracture syndrome

See Lethal congenital contracture syndrome 11

See Lethal congenital contracture syndrome 2

See Lethal congenital contracture syndrome

See Lattice corneal dystrophy type 1

See Langerhans cell histiocytosis

See Congenital muscular dystrophy

See Legg-Calve-Perthes disease

See Carnitine palmitoyl transferase 1A deficiency

See Carnitine palmitoyl transferase 1A deficiency

See Carnitine palmitoyl transferase 1A deficiency

See Aagenaes syndrome

See Aagenaes syndrome

See Lactate dehydrogenase B deficiency

See Lactate dehydrogenase B deficiency

See Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules

See Loeys-Dietz syndrome type 3

See Leber hereditary optic neuropathy with dystonia

See 3M syndrome

See Red cell phospholipid defect with hemolysis

See Coffin syndrome 1

See Symphalangism with multiple anomalies of hands and feet

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Coats disease

See Leber hereditary optic neuropathy

See Leber hereditary optic neuropathy with dystonia

See Leber hereditary optic neuropathy

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber congenital amaurosis

See Leber hereditary optic neuropathy with dystonia

See Ledderhose disease

See Renal nutcracker syndrome

See Left ventricular noncompaction

See Familial dilated cardiomyopathy

See Broken heart syndrome

See Legg-Calve-Perthes disease

See Legionnaires’ disease

See Legionnaires’ disease

See Lateral meningocele syndrome

See Anophthalmia plus syndrome

See Leigh syndrome

See Mitochondrial DNA-associated Leigh syndrome

See Pyruvate carboxylase deficiency

See Pyruvate carboxylase deficiency

See Leigh syndrome, French Canadian type

See Leigh syndrome

See Leigh syndrome

See Disseminated peritoneal leiomyomatosis

See Leiomyoma of vulva and esophagus

See Lemierre syndrome

See Lemierre syndrome

See Tularemia

See Lambert Eaton myasthenic syndrome

See LEOPARD syndrome

See Peutz-Jeghers syndrome

See Lenz microphthalmia syndrome

See Lenz Majewski hyperostotic dwarfism

See Lenz Majewski hyperostotic dwarfism

See Obesity due to congenital leptin deficiency

See Hansen's disease

See Obesity due to congenital leptin deficiency

See Sturge-Weber syndrome

See Leri pleonosteosis

See Leri pleonosteosis

See Leri Weill dyschondrosteosis

See I cell disease

See Lesch Nyhan syndrome

See Lesch Nyhan syndrome

See Smith-Lemli-Opitz syndrome

See Arts syndrome

See Arts syndrome

See Arthrogryposis multiplex congenita whistling face

See Lethal congenital contracture syndrome 1

See Lethal congenital contracture syndrome 11

See Lethal congenital contracture syndrome

See Lethal congenital contracture syndrome

See Neutropenia lethal congenital with eosinophilia

See Kniest like dysplasia lethal

See Spondylometaphyseal dysplasia Sedaghatian type

See Extranodal nasal NK/T cell lymphoma

See Multiple pterygium syndrome lethal type

See Lethal short limb skeletal dysplasia Al Gazali type

See Omphalocele cleft palate syndrome lethal

See Osteogenesis imperfecta type II

See Raine syndrome

See Platyspondylic lethal skeletal dysplasia Torrance type

See B cell prolymphocytic leukemia

See Chronic myeloid leukemia

See Juvenile myelomonocytic leukemia

See Chronic lymphocytic leukemia

See Chronic myelomonocytic leukemia

See Plasma cell leukemia

See Hairy cell leukemia

See SLC35C1-CDG (CDG-IIc)

See Leukocyte adhesion deficiency type 1

See Hypersensitivity vasculitis

See Halo nevi

See Metachromatic leukodystrophy

See Autosomal dominant leukodystrophy with autonomic disease

See Hypomyelination and congenital cataract

See Hypomyelination with atrophy of basal ganglia and cerebellum

See Hypomyelination with atrophy of basal ganglia and cerebellum

See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

See Leukoencephalopathy - dystonia - motor neuropathy

See Megalencephalic leukoencephalopathy with subcortical cysts

See RNAse T2-deficient leukoencephalopathy

See Hereditary diffuse leukoencephalopathy with spheroids

See Progressive multifocal leukoencephalopathy

See Leukoencephalopathy - dystonia - motor neuropathy

See Leukoencephalopathy with thalamus and brainstem involvement and high lactate

See White sponge nevus of cannon

See Neutropenia chronic familial

See Levator syndrome

See Levator syndrome

See Levic Stefanovic Nikolic syndrome

See Cranioectodermal dysplasia

See Osteogenesis imperfecta Levin type

See Lacrimo-auriculo-dento-digital syndrome

See Epidermodysplasia verruciformis

See Lewy body dementia - not a rare disease

See Limb-girdle muscular dystrophy type 2A

See Leydig cell hypoplasia

See Leukocyte adhesion deficiency type 1

See Li-Fraumeni syndrome

See Large granular lymphocyte leukemia

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 1A

See Limb-girdle muscular dystrophy type 1A

See Limb-girdle muscular dystrophy type 1B

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 2A

See Limb-girdle muscular dystrophy type 2A

See Limb-girdle muscular dystrophy type 2B

See Limb-girdle muscular dystrophy, type 2C

See Limb-girdle muscular dystrophy, type 2D

See Limb-girdle muscular dystrophy type 2E

See Limb-girdle muscular dystrophy type 2F

See Limb-girdle muscular dystrophy, type 2G

See Limb-girdle muscular dystrophy type 2H

See Limb-girdle muscular dystrophy type 2I

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 1A

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 2B

See Trichorhinophalangeal syndrome type 2

See Lymphogranuloma venereum

See Lymphocytic hypophysitis

See Leydig cell hypoplasia

See Leber hereditary optic neuropathy

See Leber hereditary optic neuropathy with dystonia

See Cerebellar ataxia and hypogonadotropic hypogonadism

See Laugier-Hunziker syndrome

See Lamellar ichthyosis

See Li-Fraumeni syndrome

See Ichthyosis lamellar 1

See Ichthyosis lamellar 2

See Primary cutaneous amyloidosis

See Lichen planopilaris

See Papular mucinosis

See Papular mucinosis

See Lichen planopilaris

See Actinic lichen planus

See Lichen planopilaris

See Lichen planus pigmentosus

See Lichen planus pigmentosus

See Actinic lichen planus

See Actinic lichen planus

See Lichen sclerosus

See Lichen sclerosus

See Lichen sclerosus

See Actinic lichen planus

See Liddle syndrome

See Brachydactyly elbow wrist dysplasia

See AL amyloidosis

See Light chain deposition disease

See Limb-body wall complex

See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome

See Limb-girdle muscular dystrophy

See Adams-Oliver syndrome

See Hypomelia mullerian duct anomalies

See Adams-Oliver syndrome

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 2I

See Limb-girdle muscular dystrophy, type 2C

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 2A

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 1A

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy, type 2C

See Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limbic encephalitis with LGI1 antibodies

See Glycogen storage disease type 3

See Limited cutaneous systemic sclerosis

See Linear and whorled nevoid hypermelanosis

See Linear IgA disease

See Linear IgA disease

See Linear IgA disease

See Linear lichen planus

See Microphthalmia with linear skin defects syndrome

See Inflammatory linear verrucous epidermal nevus

See Black hairy tongue - not a rare disease

See Tardive dyskinesia - not a rare disease

See Van der Woude syndrome

See Branchiooculofacial syndrome

See Lysosomal acid lipase deficiency

See Familial lipoprotein lipase deficiency

See Hepatic lipase deficiency

See Familial lipoprotein lipase deficiency

See Familial partial lipodystrophy

See Familial partial lipodystrophy

See Chylomicron retention disease

See Short-chain acyl-CoA dehydrogenase deficiency

See Lipoic acid biosynthesis defects

See Familial partial lipodystrophy type 2

See Congenital generalized lipodystrophy

See Barraquer-Simons syndrome

See Barraquer-Simons syndrome

See Barraquer-Simons syndrome

See Congenital generalized lipodystrophy type 4

See Congenital generalized lipodystrophy type 4

See Familial partial lipodystrophy associated with PPARG mutations

See Familial partial lipodystrophy type 2

See Familial partial lipodystrophy type 2

See Familial partial lipodystrophy

See Familial partial lipodystrophy

See Familial partial lipodystrophy

See Familial partial lipodystrophy type 2

See Familial partial lipodystrophy type 2

See Mandibuloacral dysplasia with type A lipodystrophy

See Mandibuloacral dysplasia with type B lipodystrophy

See Ceroid storage disease

See Lipoic acid biosynthesis defects

See Congenital lipoid adrenal hyperplasia

See Congenital lipoid adrenal hyperplasia

See Erdheim-Chester disease

See Shwachman-Diamond syndrome

See Cerebellar liponeurocytoma

See Sialidosis, type II

See Familial lipoprotein lipase deficiency

See Lipase deficiency combined

See Familial lipoprotein lipase deficiency

See Lipoid proteinosis of Urbach and Wiethe

See Sclerosing mesenteritis

See Wolman disease

See Lissencephaly 1

See Lissencephaly 2

See Spastic paraplegia 23

See Lissencephaly X-linked

See Lissencephaly 1

See Lissencephaly 1

See Lissencephaly 2

See X-linked lissencephaly with abnormal genitalia

See X-linked lissencephaly with abnormal genitalia

See Listeria infection

See Listeria infection

See Lissencephaly X-linked

See Littoral cell angioma of the spleen

See Sneddon syndrome

See Sneddon syndrome

See Sneddon syndrome

See Livedoid vasculopathy

See Livedoid vasculopathy

See Sneddon syndrome

See Livedoid vasculopathy

See Livedoid vasculopathy

See Glycogen storage disease type 0, liver

See Glycogen storage disease type 0, liver

See Glycogen storage disease type 0, liver

See Landau-Kleffner syndrome

See Linear lichen planus

See Hyperlysinemia

See Lentigo maligna melanoma

See Congenital muscular dystrophy

See Multiple pterygium syndrome lethal type

See Limb-mammary syndrome

See Lateral meningocele syndrome

See Laurence-Moon syndrome

See Lesch Nyhan syndrome

See Loiasis

See Behavioral variant of frontotemporal dementia

See Paracoccidioidomycosis

See Osteogenesis imperfecta

See Pyogenic granuloma - not a rare disease

See Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease

See Amelogenesis imperfecta local hypoplastic

See Unicentric Castleman disease

See Brunsting-Perry syndrome

See Acral peeling skin syndrome

See Localized scleroderma

See Junctional epidermolysis bullosa

See Papular mucinosis

See Localized lipodystrophy

See Lipedematous Scalp

See Pigmented villonodular synovitis

See Acral peeling skin syndrome

See Pustulosis palmaris et plantaris

See Locked-in syndrome

See Tetanus

See Epidermolysis bullosa

See Pneumonia, eosinophilic

See Loeys-Dietz syndrome

See Loeys-Dietz syndrome type 1

See Loeys-Dietz syndrome type 2

See Loeys-Dietz syndrome type 4

See Loeys-Dietz syndrome type 3

See Loeys-Dietz syndrome type 3

See Loeys-Dietz syndrome type 3

See Late-Onset Familial Alzheimer Disease

See Epidermolysis bullosa

See Logopenic progressive aphasia

See Logopenic progressive aphasia

See Senior Loken Syndrome

See Roberts syndrome

See Kapur Toriello syndrome

See Andersen-Tawil syndrome

See Timothy syndrome

See Timothy syndrome

See LCHAD deficiency

See LCHAD deficiency

See LCHAD deficiency

See LCAD deficiency

See Brachydactyly long thumb type

See Loose anagen hair syndrome

See Late-onset retinal degeneration

See Alopecia totalis

See Pinta

See Amyotrophic lateral sclerosis

See Ataxia telangiectasia

See Hyperacusis

See Microcephalic osteodysplastic primordial dwarfism type 1

See Deafness nephritis anorectal malformation

See Lowe oculocerebrorenal syndrome

See Klumpke paralysis

See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2

See Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1

See Billet Bear syndrome

See Lower mesodermal defects sequence

See Diffuse astrocytoma

See Dent disease

See Lichen planus pemphigoides

See Lichen planus pigmentosus

See Lichen planus pigmentosus

See Logopenic progressive aphasia

See Disseminated peritoneal leiomyomatosis

See Loin pain hematuria syndrome

See Lysinuric protein intolerance

See Lipase deficiency combined

See Lipase deficiency combined

See Familial lipoprotein lipase deficiency

See Pustulosis palmaris et plantaris

See Lichen planopilaris

See Van der Woude syndrome

See Long QT syndrome 1

See Long QT syndrome 10

See Long QT syndrome 11

See Long QT syndrome 2

See Long QT syndrome 3

See Long QT syndrome 4

See Long QT syndrome 5

See Long QT syndrome 6

See Andersen-Tawil syndrome

See Timothy syndrome

See Long QT syndrome 9

See LRBA deficiency

See Hereditary leiomyomatosis and renal cell cancer

See Larsen syndrome

See Leigh syndrome

See Leigh syndrome, French Canadian type

See Leukoencephalopathy with thalamus and brainstem involvement and high lactate

See Laryngeal cleft

See Eosinophilia-myalgia syndrome

See X-linked dystonia-parkinsonism/Lubag

See MECP2 duplication syndrome

See Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

See Manouvrier syndrome

See Nocardiosis

See Small cell lung cancer

See Antiphospholipid syndrome

See Lupus - not a rare disease

See Cutaneous lupus erythematosus

See Cerebellar ataxia and hypogonadotropic hypogonadism

See Cerebellar ataxia and hypogonadotropic hypogonadism

See Epidermodysplasia verruciformis

See Paracoccidioidomycosis

See Megalencephalic leukoencephalopathy with subcortical cysts

See Left ventricular noncompaction

See Leri Weill dyschondrosteosis

See Linear and whorled nevoid hypermelanosis

See Lowry Wood syndrome

See Pentosuria

See Pentosuria

See Lymphocytic hypophysitis

See Lyme disease - not a rare disease

See Lymphangiectasis

See Congenital pulmonary lymphangiectasia

See Hennekam syndrome

See Lymphatic malformations

See Congenital pulmonary lymphangiectasia

See Lymphangioleiomyomatosis

See Stewart Treves syndrome

See Aagenaes syndrome

See Hereditary lymphedema type II

See Dahlberg Borer Newcomer syndrome

See Hereditary lymphedema type II

See Lymphedema-distichiasis syndrome

See Yellow nail syndrome

See Irons Bhan syndrome

See Hereditary lymphedema type II

See Hereditary lymphedema type II

See Deafness-lymphedema-leukemia syndrome

See Blastic plasmacytoid dendritic cell

See Leukocyte adhesion deficiency type 1

See Diabetic mastopathy

See Diabetic mastopathy

See Angioimmunoblastic T-cell lymphoma

See Orbital lymphoma

See B-cell lymphoma

See Follicular lymphoma

See Hodgkin lymphoma

See Lymphoblastic lymphoma

See Mantle cell lymphoma

See Waldenstrom macroglobulinemia

See Autoimmune pancreatitis

See X-linked lymphoproliferative syndrome

See X-linked lymphoproliferative syndrome 1

See X-linked lymphoproliferative syndrome 1

See X-linked lymphoproliferative syndrome 2

See Caudal appendage deafness

See Lynch syndrome - not a rare disease

See Lynch syndrome - not a rare disease

See Steroid dehydrogenase deficiency dental anomalies

See Lymphomatoid papulosis

See Hyperlysinemia

See Hyperlysinemia

See Alpha-mannosidosis

See Mannosidosis, beta A, lysosomal

See Nephropathic cystinosis

See Free sialic acid storage disease

See Danon disease

See Galactosialidosis

See Fucosidosis

See Rabies

See Kyphoscoliotic Ehlers-Danlos syndrome

See Methemoglobinemia, beta-globin type

See Mycobacterium Abscessus

See Mycobacterium Chelonae

See Mycobacterium fortuitum

See Mycobacterium Gordonae

See Mycobacterium Kansasii

See Mycobacterium Malmoense

See Mycobacterium Marinum

See Mycobacterium Xenopi

See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency

See Microtia-Anotia

See Lenz microphthalmia syndrome

See Oculofaciocardiodental syndrome

See Hypocomplementemic urticarial vasculitis

See Hypocomplementemic urticarial vasculitis

See Microphthalmia

See Neuroaxonal dystrophy renal tubular acidosis

See Mac Dermot Winter syndrome

See Spinocerebellar ataxia 3

See X-linked congenital generalized hypertrichosis

See X-linked congenital generalized hypertrichosis

See Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma

See Hemimegalencephaly

See Macrozoospermia

See Megalencephaly-capillary malformation syndrome

See Bannayan-Riley-Ruvalcaba syndrome

See Bannayan-Riley-Ruvalcaba syndrome

See Bagatelle Cassidy syndrome

See Fucosidosis type 1

See Bagatelle Cassidy syndrome

See Smith-Kingsmore syndrome

See Megalencephaly-capillary malformation syndrome

See Smith-Kingsmore syndrome

See MOMO syndrome

See Cystic hygroma

See Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance

See Waldenstrom macroglobulinemia

See Pachygyria

See Kuzniecky Andermann syndrome

See Gigantomastia

See Macrophagic myofasciitis

See Macrosomia with lethal microphthalmia

See MOMO syndrome

See Giant platelet syndrome

See Coloboma of macula

See Macular dystrophy, corneal type 1

See Best vitelliform macular dystrophy

See North Carolina macular dystrophy

See Patterned dystrophy of retinal pigment epithelium

See Fundus dystrophy, pseudoinflammatory, of Sorsby

See Adult-onset vitelliform macular dystrophy

See Macular dystrophy, concentric annular

See Adrenomyodystrophy

See Metaphyseal anadysplasia

See Mandibuloacral dysplasia

See Mandibuloacral dysplasia with type A lipodystrophy

See Mandibuloacral dysplasia with type B lipodystrophy

See Glutaric acidemia type II

See Multiple symmetric lipomatosis

See Multiple symmetric lipomatosis

See Lewis-Sumner syndrome

See Mycetoma

See Globozoospermia

See Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

See Limb-girdle muscular dystrophy, type 2C

See Renal hypomagnesemia 2

See Renal hypomagnesemia 2

See Methylmalonic acidemia with homocystinuria type cblJ

See Mycobacterium Avium Complex infections

See Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

See Androgen insensitivity syndrome, mild

See Microcephalic osteodysplastic primordial dwarfism type 2

See Short rib-polydactyly syndrome, Majewski type

See Bipolar disorder - not a rare disease

See Sutton disease 2

See Sutton disease 2

See MHC class 1 deficiency

See Mal de debarquement syndrome

See Meleda disease

See Naxos disease

See Pinta

See Malakoplakia

See Lymphatic filariasis

See Breast cancer, male

See Breast cancer, male

See Leydig cell hypoplasia

See Globozoospermia

See Macrozoospermia

See Macrozoospermia

See Globozoospermia

See Macrozoospermia

See 5-alpha reductase deficiency

See Leydig cell hypoplasia

See Leydig cell hypoplasia

See 17-beta hydroxysteroid dehydrogenase 3 deficiency

See Y chromosome infertility

See Noonan syndrome

See Hidradenocarcinoma

See Hidradenocarcinoma

See Eccrine porocarcinoma

See Anthrax

See Undifferentiated pleomorphic sarcoma

See Undifferentiated pleomorphic sarcoma

See Malignant hyperthermia

See Malignant hyperthermia susceptibility type 2

See Malignant hyperthermia susceptibility type 3

See Malignant hyperthermia susceptibility type 4

See Malignant hyperthermia susceptibility type 5

See Malignant hyperthermia susceptibility type 6

See Malignant hyperthermia arthrogryposis torticollis

See Somatostatinoma

See Langerhans cell sarcoma

See Digestive System Melanoma

See Malignant mesenchymoma

See Malignant migrating partial seizures of infancy

See Malignant migrating partial seizures of infancy

See Uterine Carcinosarcoma

See Uterine Carcinosarcoma

See Ovarian carcinosarcoma

See Ovarian carcinosarcoma

See Myoepithelial carcinoma

See Small intestine cancer

See Malignant peripheral nerve sheath tumor

See Malignant peripheral nerve sheath tumor

See Hidradenocarcinoma

See Catecholaminergic polymorphic ventricular tachycardia

See Phyllodes tumor of the prostate

See Anthrax

See Rhabdoid tumor

See Malignant peripheral nerve sheath tumor

See Turcot syndrome

See Granular cell tumor

See Mallory-Weiss syndrome

See Mallory-Weiss syndrome

See Malonyl-CoA decarboxylase deficiency

See Malonyl-CoA decarboxylase deficiency

See Malonyl-CoA decarboxylase deficiency

See Dilated cardiomyopathy with hypergonadotropic hypogonadism

See 3MC syndrome

See Celiac artery compression syndrome

See Brucellosis

See Limb-mammary syndrome

See Paget disease of the breast

See Pseudoangiomatous stromal hyperplasia - not a rare disease

See RFT1-CDG (CDG-In)

See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

See Adrenomyodystrophy

See Treacher Collins syndrome

See Branchial arch syndrome X-linked

See Mandibulofacial dysostosis with microcephaly

See Treacher Collins syndrome 3

See Nager acrofacial dysostosis

See Mandibulofacial dysostosis with microcephaly

See Bipolar disorder - not a rare disease

See Bipolar disorder - not a rare disease

See Manitoba oculotrichoanal syndrome

See Mannose-binding lectin protein deficiency - not a rare disease

See MPI-CDG (CDG-Ib)

See Alpha-mannosidosis

See ALG1-CDG (CDG-Ik)

See ALG2-CDG (CDG-Ii)

See ALG3-CDG (CDG-Id)

See ALG9-CDG (CDG-IL)

See ALG12-CDG (CDG-Ig)

See Acanthocheilonemiasis

See Mansonelliasis

See Mansonelliasis

See MYH-associated polyposis

See Epithelial basement membrane corneal dystrophy

See Dihydrolipoamide dehydrogenase deficiency

See 5q- syndrome

See Osteopetrosis

See Osteopetrosis

See Osteopetrosis autosomal recessive 1

See Osteopetrosis autosomal recessive 3

See Marburg hemorrhagic fever

See Tumefactive multiple sclerosis

See Marburg hemorrhagic fever

See Paroxysmal nocturnal hemoglobinuria

See Marcus Gunn phenomenon

See Marden Walker like syndrome

See Marek disease

See Shprintzen-Goldberg craniosynostosis syndrome

See Shprintzen-Goldberg craniosynostosis syndrome

See Lujan syndrome

See Shprintzen-Goldberg craniosynostosis syndrome

See Alopecia areata - not a rare disease

See Total Hypotrichosis, Mari type

See Marie Unna congenital hypotrichosis

See Cleidocranial dysplasia

See Ankylosing spondylitis - not a rare disease

See Marinesco-Sjogren syndrome

See Marinesco-Sjogren syndrome

See Marinesco-Sjogren syndrome

See Marinesco-Sjogren syndrome

See Gray platelet syndrome

See Fragile X syndrome

See Manitoba oculotrichoanal syndrome

See Manitoba oculotrichoanal syndrome

See Mucopolysaccharidosis type VI

See Carpotarsal osteochondromatosis

See Metaphyseal anadysplasia

See Acrodysostosis

See Drachtman Weinblatt Sitarz syndrome

See Leber hereditary optic neuropathy with dystonia

See Periodic fever, aphthous stomatitis, pharyngitis and adenitis

See Fragile X syndrome

See Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

See McCune-Albright syndrome

See Meconium aspiration syndrome

See Spastic paraplegia 1

See Maturity-onset diabetes of the young

See MASS phenotype

See ACTH-independent macronodular adrenal hyperplasia

See Intravascular papillary endothelial hyperplasia

See Intravascular papillary endothelial hyperplasia

See Intravascular papillary endothelial hyperplasia

See Mastocytosis

See Cutaneous mastocytosis

See Methionine adenosyltransferase deficiency

See Maternal hyperphenylalaninemia

See Temple syndrome

See Mitochondrial DNA-associated Leigh syndrome

See Parvovirus antenatal infection

See Cleft palate short stature vertebral anomalies

See Microphthalmia syndromic 9

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Corneal endothelial dystrophy type 2

See Marcus Gunn phenomenon

See May-Thurner syndrome

See Mullerian aplasia

See Mullerian aplasia

See MYH9 related thrombocytopenia

See Migraine with brainstem aura

See Marchiafava Bignami disease

See MBD25–related intellectual disability

See Mannose-binding lectin protein deficiency - not a rare disease

See Moebius syndrome

See Hereditary congenital facial paresis

See Paternal uniparental disomy of chromosome 14

See Nguyen syndrome

See Medium-chain acyl-coenzyme A dehydrogenase deficiency

See Medium-chain acyl-coenzyme A dehydrogenase deficiency

See Medium-chain acyl-coenzyme A dehydrogenase deficiency

See Multiple congenital anomalies-hypotonia-seizures syndrome type 2

  • [[MCAHS1 - Another name for Multiple congenital anomalies-hypotonia-seizures syndrome
  • MCAHS2

See Multiple congenital anomalies-hypotonia-seizures syndrome type 2

See Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance

See Glycogen storage disease type 5

See Glycogen storage disease type 5

See Mast cell activation syndrome

See 3 Methylcrotonyl-CoA carboxylase 1 deficiency

See 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency

See 3-methylcrotonyl-CoA carboxylase deficiency

See Polyostotic osteolytic dysplasia, hereditary expansile

See 3-methylcrotonyl-CoA carboxylase deficiency

See McCune-Albright syndrome

See Multiple carboxylase deficiency

See Multicentric Castleman Disease

See Malonyl-CoA decarboxylase deficiency

See Macular dystrophy, corneal type 1

See Macular dystrophy, concentric annular

See North Carolina macular dystrophy

See Metaphyseal chondrodysplasia Spahr type

See Metaphyseal chondrodysplasia Schmid type

See Hypocomplementemic urticarial vasculitis

See Hypocomplementemic urticarial vasculitis

See Musculocontractural Ehlers-Danlos syndrome

See Ectodermal dysplasia skin fragility syndrome

See Medium-chain 3-ketoacyl-coa thiolase deficiency

See Autosomal dominant tubulointerstitial kidney disease

See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations

See Hereditary leiomyomatosis and renal cell cancer

See McLeod neuroacanthocytosis syndrome

See Megalencephaly-capillary malformation syndrome

See Methylmalonyl-Coenzyme A mutase deficiency

See Megalencephaly-capillary malformation syndrome

See Minimal change disease

See Lenz microphthalmia syndrome

See Microphthalmia syndromic 10

See Oculofaciocardiodental syndrome

See Syndromic microphthalmia, type 3

See Microphthalmia syndromic 4

See Microphthalmia syndromic 5

See Microphthalmia syndromic 6

See Microphthalmia with linear skin defects syndrome

See Microphthalmia syndromic 8

See Microphthalmia syndromic 9

See Congenital microcoria

See Autosomal recessive primary microcephaly

See Amish lethal microcephaly

See Early Infantile Epileptic Encephalopathy

See Mixed connective tissue disease

See Hereditary leiomyomatosis and renal cell cancer

See Medulloblastoma

See Congenital muscular dystrophy

See Congenital muscular dystrophy type 1A

See Congenital muscular dystrophy

  • [[MDDGA - Another name for Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
  • MdDS

See Mal de debarquement syndrome

See Epidermolysa bullosa simplex with muscular dystrophy

See Epidermolysa bullosa simplex with muscular dystrophy

See Mesomelic dysplasia Kantaputra type

See Miller-Dieker syndrome

See Meleda disease

See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

See Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome

See Progressive familial intrahepatic cholestasis type 3

See Rigid spine syndrome

See Myelodysplastic syndromes

See Peripartum cardiomyopathy

See Muscle eye brain disease

See Meckel syndrome

See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia

See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia

See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia

See Multiple epiphyseal dysplasia

See MED13L haploinsufficiency syndrome

See Symmastia

See Celiac artery compression syndrome

See Frontonasal dysplasia

See Median cleft of upper lip with polyps of facial skin and nasal mucosa

See Frontonasal dysplasia

See Pallister W syndrome

See Frontonasal dysplasia

See Bifid nose

See Fibrosing mediastinitis

See Multifocal fibrosclerosis

See Gigantomastia

See Epiphyseal dysplasia multiple with early-onset diabetes mellitus

See Beta-thalassemia

See Kaposi sarcoma

See 3-alpha hydroxyacyl-CoA dehydrogenase deficiency

See Medium-chain acyl-coenzyme A dehydrogenase deficiency

See Medium-chain acyl-coenzyme A dehydrogenase deficiency

See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

See Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations

See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

See Thyroid cancer, medullary

See Meesmann corneal dystrophy

See Meesmann corneal dystrophy

See Dandy-Walker complex

See Muscular dystrophy, congenital, megaconial type

See Muscular dystrophy, congenital, megaconial type

See Megacystis microcolon intestinal hypoperistalsis syndrome

See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome

See Megalencephaly-capillary malformation syndrome

See Alexander disease

See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome

See Megalencephalic leukoencephalopathy with subcortical cysts

See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome

See Imerslund-Grasbeck syndrome

See Thiamine responsive megaloblastic anemia syndrome

See Megalencephaly-capillary malformation syndrome

See Isolated congenital megalocornea

See Megalocornea-intellectual disability syndrome

See Frank Ter Haar syndrome

See Macrodactyly of the foot

See Macrodactyly of the hand

See Macrodactyly of the foot

See Macrodactyly of the hand

See Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity

See Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity

See Methylmalonic acidemia with homocystinuria type cblD

See Hereditary lymphedema type II

See Meige syndrome

See Hereditary lymphedema type II

See Meige syndrome

See Cleft palate, cardiac defects, and intellectual disability

See Cleft palate, cardiac defects, and intellectual disability

See Melanoma astrocytoma syndrome

See Digestive System Melanoma

See Digestive System Melanoma

See Intraocular melanoma

See Familial atypical multiple mole melanoma syndrome - not a rare disease

See Neurocutaneous melanosis

See Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

See Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

See Lafora disease

See Melkersson-Rosenthal syndrome

See Branchiootorenal syndrome

See Melnick-Needles syndrome

See Familial mixed cryoglobulinemia

See Dense deposit disease

See Dense deposit disease

See Membranous nephropathy

See Membranous nephropathy

See Budd-Chiari syndrome

See Kluver Bucy syndrome

See Multiple endocrine neoplasia type 1

See Multiple endocrine neoplasia type 2A

See Multiple endocrine neoplasia type 2B

See Multiple endocrine neoplasia type 1

See Multiple endocrine neoplasia type 2

See Multiple endocrine neoplasia type 2A

See Waardenburg syndrome

See Mendelian susceptibility to mycobacterial diseases

See IL12RB1 deficiency

See Mendelian susceptibility to mycobacterial diseases

See IL12RB1 deficiency

See Mendelian susceptibility to mycobacterial diseases

See IL12RB1 deficiency

See Rabson-Mendenhall syndrome

See Conductive deafness with malformed external ear

See Ménière's disease - not a rare disease

See Ménière's disease - not a rare disease

See Sturge-Weber syndrome

See Syphilitic aseptic meningitis

See Spinal meningioma

See Bacterial meningitis

See Neonatal meningitis

See Syphilitic aseptic meningitis

See Neisseria meningitidis infection

See Primary amebic meningoencephalitis

See Podder-Tolmie syndrome

See Myelomeningocele

See Menkes disease

See Menkes disease

See Van Den Bosch syndrome

See Borjeson-Forssman-Lehmann syndrome

See X-linked creatine deficiency

See X-linked creatine deficiency

See Spastic paraplegia 1

See Intellectual deficit Buenos-Aires type

See PPM-X syndrome

See Intellectual deficit - short stature - hypertelorism

See Temtamy preaxial brachydactyly syndrome

See Mietens-Weber syndrome

See Severe X-linked intellectual disability, Gustavson type

See Coffin-Lowry syndrome

See PPM-X syndrome

See Fitzsimmons syndrome

See Severe X-linked intellectual disability, Gustavson type

See Mental retardation X-linked syndromic 11

See X-linked intellectual disability, Siderius type

See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures

See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures

See Tranebjaerg Svejgaard syndrome

See Pseudoprogeria syndrome

See 5q14.3 microdeletion syndrome

See Lowry Maclean syndrome

See Epilepsy telangiectasia

See Gurrieri syndrome

See MGAT2-CDG (CDG-IIa)

See FG syndrome

See N syndrome

See Mowat-Wilson syndrome

See Battaglia-Neri syndrome

See Weaver Williams syndrome

See Mental retardation X-linked syndromic 7

See McDonough syndrome

See Kozlowski-Krajewska syndrome

See Clark-Baraitser syndrome

See MORM syndrome

See Mental retardation, X-linked 14

See Renpenning syndrome 1

See X-linked intellectual disability-plagiocephaly syndrome

See MECP2 duplication syndrome

See PPM-X syndrome

See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

See Graham-Cox syndrome

See Wilson-Turner syndrome

See Renpenning syndrome 1

See X-linked intellectual disability-plagiocephaly syndrome

See Wilson-Turner syndrome

See Spinocerebellar ataxia 1

See Meralgia paresthetica

See Mercury poisoning

See Merkel cell carcinoma

See Merkel cell carcinoma

See Sirenomelia

See Sirenomelia

See Congenital muscular dystrophy type 1A

See Congenital muscular dystrophy type 1A

See Myoclonic epilepsy with ragged red fibers

See Myoclonic epilepsy with ragged red fibers

See Singleton-Merten syndrome

See Malignant eccrine spiradenoma

See Mesangial proliferative glomerulonephritis

See Diffuse mesangial sclerosis

See Membranoproliferative glomerulonephritis

See Dense deposit disease

See Mesangial proliferative glomerulonephritis

See Sclerosing mesenteritis

See Sclerosing mesenteritis

See Sclerosing mesenteritis

See Sclerosing mesenteritis

See Nance-Horan syndrome

See Weill-Marchesani syndrome

See Ellis-Van Creveld syndrome

See Ulna hypoplasia-intellectual disability syndrome

See Mesomelia-synostoses syndrome

See Acromesomelic dysplasia Campailla Martinelli type

See Nievergelt syndrome

See Ulna and fibula, hypoplasia of

See Langer mesomelic dysplasia

See Robinow syndrome

See Ulna and fibula, hypoplasia of

See Mesomelic dysplasia Kantaputra type

See Mesomelic dysplasia Savarirayan type

See Mesomelic dysplasia Kantaputra type

See Mesomelic dwarfism cleft palate camptodactyly

See Dyschondrosteosis nephritis

See Malignant mesothelioma

See Mesangioproliferative glomerulopathy

See TANGO2-Related Metabolic Encephalopathy and Arrhythmias

See Mitochondrial myopathy with lactic acidosis

See Abdominal obesity metabolic syndrome

See Metachromatic leukodystrophy due to saposin B deficiency

See Metachromatic leukodystrophy

See Acrogeria, Gottron type

See Metagonimiasis

See Kozlowski Rafinski Klicharska syndrome

See Cartilage-hair hypoplasia

See Jansen type metaphyseal chondrodysplasia

See Trichoscyphodysplasia

See Trichoscyphodysplasia

See Ulna metaphyseal dysplasia syndrome

See Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

See Pyle disease

See Say Carpenter syndrome

See Pyle disease

See Roy Maroteaux Kremp syndrome

See Metaplastic carcinoma of the breast

See Dermatofibrosarcoma protuberans

See Metatropic dysplasia

See Metatropic dysplasia

See Metachondromatosis

See HIBCH deficiency

See HIBCH deficiency

See NADH cytochrome B5 reductase deficiency

See Methimazole antenatal exposure

See Methimazole antenatal exposure

See Methimazole antenatal exposure

See Methylcobalamin deficiency cbl G type

See Fetal methylmercury syndrome

See 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency

See Homocystinuria due to MTHFR deficiency

See MTHFR gene variant - not a rare disease

See Methylmalonic acidemia and homocysteinemia type cblX

See Methylmalonic acidemia with homocystinuria

See Methylmalonic acidemia with homocystinuria type cblC

See Methylmalonic acidemia with homocystinuria type cblD

See Methylmalonic aciduria, cblA type

See Methylmalonic aciduria, cblB type

See Methylmalonic acidemia with homocystinuria type cblD

See Methylmalonic acidemia with homocystinuria type cblJ

See Methylmalonic acidemia and homocysteinemia type cblX

See Methylmalonic aciduria, cblB type

See Methylmalonic acidemia with homocystinuria type cblD

See Methylmalonic acidemia with homocystinuria type cblC

See Methylmalonic acidemia with homocystinuria type cblC

See Methylmalonic acidemia with homocystinuria type cblJ

See Methylmalonic aciduria, cblA type

See Methylmalonic aciduria, cblB type

See Methylmalonic acidemia with homocystinuria type cblD

See Methylmalonic acidemia with homocystinuria type cblF

See Methylmalonic acidemia with homocystinuria type cblJ

See Methylmalonic acidemia and homocysteinemia type cblX

See Methylmalonic aciduria, cblB type

See Methylmalonic acidemia with homocystinuria type cblD

See Methylmalonic acidemia with homocystinuria type cblD

See Methylmalonic aciduria, cblA type

See Methylmalonic aciduria, cblB type

See Mevalonic aciduria

See Fraser syndrome

See Branchial arch syndrome X-linked

See Treacher Collins syndrome

See Mandibulofacial dysostosis with microcephaly

See Mandibulofacial dysostosis with microcephaly

See Mandibulofacial dysostosis with microcephaly

See Hereditary proximal myopathy with early respiratory failure

See Multiple familial trichoepithelioma

See Multiple familial trichoepithelioma

See 3 methylglutaconic aciduria type V

See 3-methylglutaconyl-CoA hydratase deficiency (AUH defect)

See Barth syndrome

See OPA3 defect

See 3 methylglutaconic aciduria type V

See OPA3 defect

See DCMA syndrome

See MGAT2-CDG (CDG-IIa)

See Isolated congenital megalocornea

See Isolated congenital megalocornea

See Membranous nephropathy

See Mungan syndrome

See Monoclonal gammopathy of undetermined significance

See Malignant hyperthermia

See Microhydranencephaly

See Cowden syndrome

See 2-methyl-3-hydroxybutyric aciduria

See Familial hemiplegic migraine type 1

See Familial hemiplegic migraine type 2

See Familial hemiplegic migraine type 3

See Malignant hyperthermia susceptibility type 1

See Malignant hyperthermia susceptibility type 1

See Malignant hyperthermia susceptibility type 2

See Malignant hyperthermia susceptibility type 3

See Malignant hyperthermia susceptibility type 4

See Malignant hyperthermia susceptibility type 5

See Malignant hyperthermia susceptibility type 6

See Circumferential skin creases Kunze type

See Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

See X-linked intellectual disability, Najm type

See X-linked intellectual disability, Najm type

See Congenital thrombotic thrombocytopenic purpura

See Congenital thrombotic thrombocytopenic purpura

See Autosomal recessive primary microcephaly

See Microcephalic osteodysplastic primordial dwarfism type 1

See Microcephalic osteodysplastic primordial dwarfism type 2

See Microcephalic primordial dwarfism Toriello type

See Microcephaly brain defect spasticity hypernatremia

See Congenital intrauterine infection-like syndrome

See Early Infantile Epileptic Encephalopathy

See Viljoen Kallis Voges syndrome

See Halal syndrome

See Say Barber Miller syndrome

See Nijmegen breakage syndrome

See Lymphedema, microcephaly and chorioretinopathy syndrome

See Microcephaly micropenis convulsions

See Microphthalmia syndromic 8

See Galloway-Mowat syndrome

See Microcephaly micropenis convulsions

See Autosomal recessive primary microcephaly

See Microcephaly autosomal dominant

See Microcephaly-cardiomyopathy

See Say Barber Miller syndrome

See Nijmegen breakage syndrome

See X-linked intellectual disability, Najm type

See Paine syndrome

See Amish lethal microcephaly

See Hersh Podruch Weisskopk syndrome

See Ellis Yale Winter syndrome

See Microcephaly, corpus callosum dysgenesis and cleft lip-palate

See Galloway-Mowat syndrome

See Wolf-Hirschhorn syndrome

See Micro syndrome

See Microcephaly cervical spine fusion anomalies

See Silengo Lerone Pelizza syndrome

See Early Infantile Epileptic Encephalopathy

See Viljoen Kallis Voges syndrome

See Milner Khallouf Gibson syndrome

See Microcephaly-cardiomyopathy

See Orofaciodigital syndrome 14

See Congenital intrauterine infection-like syndrome

See Microcephaly microcornea syndrome Seemanova type

See Feingold syndrome

See Pierson syndrome

See Pierson syndrome

See Congenital microcoria

See Cataract microcornea syndrome

See Epithelial basement membrane corneal dystrophy

See Microcystic lymphatic malformation

See Microcystic lymphatic malformation

See Hypochromic microcytic anemia with iron overload

See Hypochromic microcytic anemia with iron overload

See 15q13.3 microdeletion syndrome

See 16p11.2 deletion syndrome

See Koolen de Vries syndrome

See Microdontia hypodontia short stature

See 15q13.3 microduplication syndrome

See Chromosome 3q29 microduplication syndrome

See Microduplication Xp11.22-p11.23 syndrome

See Microgastria limb reduction defect

See Spondyloepimetaphyseal dysplasia micromelic

See Desbuquois syndrome

See Omodysplasia 1

See Penis agenesis

See Microphthalmia syndromic 10

See Syndromic microphthalmia, type 3

See Microphthalmia syndromic 6

See Oculofaciocardiodental syndrome

See Microphthalmia with linear skin defects syndrome

See Lenz microphthalmia syndrome

See Lenz microphthalmia syndrome

See Lenz microphthalmia syndrome

See Oculofaciocardiodental syndrome

See Microphthalmia syndromic 4

See Microphthalmia syndromic 6

See Anophthalmia plus syndrome

See Microphthalmia with linear skin defects syndrome

See Syndromic microphthalmia-12

See Microphthalmia

See Microphthalmia with linear skin defects syndrome

See Microphthalmia microtia fetal akinesia

See Oculo-cerebral dysplasia

See Microphthalmia associated with colobomatous cyst

See Rodrigues blindness

See Duker Weiss Siber syndrome

See Microphthalmia with linear skin defects syndrome

See Collagenous colitis - not a rare disease

See Abetalipoproteinemia

See Abetalipoproteinemia

See Megalocornea - spherophakia - secondary glaucoma

See Verloes Van Maldergem Marneffe syndrome

See Microsporidiosis

See Isotretinoin embryopathy like syndrome

See Meier-Gorlin syndrome

See Microvillus inclusion disease

See Microphthalmia with linear skin defects syndrome

See Weber syndrome

See Maternally inherited diabetes and deafness

See Midphalangeal hair

See Schisis association

See Granulomatosis with polyangiitis

See Elastosis perforans serpiginosa

See Mietens-Weber syndrome

See Short stature syndrome, Brussels type

See Familial hemiplegic migraine type 1

See Familial hemiplegic migraine type 2

See Familial hemiplegic migraine type 3

See HaNDL syndrome

See Malignant migrating partial seizures of infancy

See Malignant migrating partial seizures of infancy

See Malignant migrating partial seizures of infancy

See Congenital ectodermal dysplasia with hearing loss

See IgG4-related dacryoadenitis and sialadenitis

See IgG4-related dacryoadenitis and sialadenitis

See IgG4-related dacryoadenitis and sialadenitis

See Benign recurrent intrahepatic cholestasis 2

See Androgen insensitivity syndrome, mild

See Benign recurrent intrahepatic cholestasis 1

See Attenuated familial adenomatous polyposis

See Cantu Sanchez-Corona Hernandez syndrome

See Childhood-onset nemaline myopathy

See Osteogenesis imperfecta type I

See Mild phenylketonuria

See Jorgenson Lenz syndrome

See Fox-Fordyce disease

See Nodular regenerative hyperplasia

See Miller-Dieker syndrome

See Milroy disease

See Mitochondrial DNA-associated Leigh syndrome

See Fetal methylmercury syndrome

See Smith-Kingsmore syndrome

See Primary hyperaldosteronism - not a rare disease

See Rigid spine syndrome

See Minimal change disease

See Minimal change disease

See Familial streblodactyly

See Fetal minoxidil syndrome

See Fetal minoxidil syndrome

See Congenital microcoria

See Retinopathy pigmentary mental retardation

See Mirizzi syndrome

See Laurin-Sandrow syndrome

See Congenital mirror movement disorder

See Turcot syndrome

See Turcot syndrome

See Spondyloepimetaphyseal dysplasia Missouri type

See Erythromelalgia

See Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome

See Beta ketothiolase deficiency

See Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

See Carbonic anhydrase VA deficiency

See Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay

See Cytochrome c oxidase deficiency

See Kearns-Sayre syndrome

See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

See Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

See RRM2B-related mitochondrial DNA depletion syndrome

See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

See RRM2B-related mitochondrial DNA depletion syndrome

See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

See TMEM70 defect

See TMEM70 defect

See TMEM70 defect

See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

See MEPAN syndrome

See Mitochondrial myopathy with diabetes

See Mitochondrial complex I deficiency

See Mitochondrial complex II deficiency

See Mitral valve prolapse, familial, X-linked

See Ganglioglioma

See Cerebral palsy - not a rare disease

See Labrador lung

See Hyperlipoproteinemia type 5

See Acute leukemia of ambiguous lineage

See Uterine Carcinosarcoma

See Malignant mixed Mullerian tumor

See Acute leukemia of ambiguous lineage

See Melorheostosis with osteopoikilosis

See Spasmodic dysphonia

See Malignant mixed Mullerian tumor

See Miyoshi myopathy

See Spinocerebellar ataxia 3

See McKusick Kaufman syndrome

See Meckel syndrome

See Meckel syndrome type 2

See Meckel syndrome type 3

See I cell disease

See Mucolipidosis III alpha/beta

See Mucolipidosis type 4

See I cell disease

See Sialidosis, type II

See Mucolipidosis III alpha/beta

See Sideroblastic anemia and mitochondrial myopathy

See Megalencephalic leukoencephalopathy with subcortical cysts

See Metachromatic leukodystrophy

See Microgastria limb reduction defect

See Microphthalmia with linear skin defects syndrome

See Multifocal lymphangioendotheliomatosis with thrombocytopenia

See Miyoshi myopathy

See Methylmalonic acidemia

See Methylmalonic aciduria, cblA type

See ACTH-independent macronodular adrenal hyperplasia

See Monoclonal mast cell activation syndrome

See Adenosine monophosphate deaminase 1 deficiency

See Mesomelic dysplasia Kantaputra type

See Microphthalmia syndromic 8

See Microphthalmia syndromic 8

See Macrophagic myofasciitis

See Megacystis microcolon intestinal hypoperistalsis syndrome

See Megacystis microcolon intestinal hypoperistalsis syndrome

See Malignant mixed Mullerian tumor

See Ovarian carcinosarcoma

See Multifocal motor neuropathy

See Multifocal motor neuropathy

See Madras motor neuron disease - not a rare disease

See Malignant migrating partial seizures of infancy

See Malignant migrating partial seizures of infancy

See Turcot syndrome

See Megalocornea-intellectual disability syndrome

See Turcot syndrome

See Medial Medullary Syndrome

See Feingold syndrome

See Amyotrophic lateral sclerosis

See Neuropathy, distal hereditary motor, Jerash type

See Daneman Davy Mancer syndrome

See Mitochondrial neurogastrointestinal encephalopathy syndrome

See Mitochondrial neurogastrointestinal encephalopathy syndrome

See Radiation induced meningioma

See Melnick-Needles syndrome

See Microphthalmia syndromic 10

See Moebius syndrome

See Hereditary congenital facial paresis

See Molybdenum cofactor deficiency

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Maturity-onset diabetes of the young

See Moebius syndrome

See Carey-Fineman-Ziter syndrome

See Hereditary congenital facial paresis

See Moebius axonal neuropathy hypogonadism

See Fryns syndrome

See Stiff person syndrome

See Microsomia hemifacial radial defects

See MOGS-CDG (CDG-IIb)

See Orofaciodigital syndrome 2

See Brachydactyly type A2

See Ankylosis of teeth

See Hydatidiform mole

See Mollaret meningitis

See Multicentric osteolysis, nodulosis and arthropathy

See Byssinosis

See Mondor disease

See Mondor disease

See Monkeypox

See Allan-Herndon-Dudley syndrome

See Monoclonal mast cell activation syndrome

See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

See Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

See Agnosia

See Epithelial-myoepithelial carcinoma

See Blastic plasmacytoid dendritic cell

See Brachydactyly Mononen type

See Glucose-galactose malabsorption

See Chromosome 10p deletion

See Chromosome 10q deletion

See 10q22.3q23 microdeletion syndrome

See Chromosome 11p deletion

See Chromosome 11q deletion

See Chromosome 12p deletion

See Chromosome 12q deletion

See 12q14 microdeletion syndrome

See Chromosome 13q deletion

See Chromosome 14q deletion

See Frias syndrome

See Frias syndrome

See Chromosome 15q deletion

See 15q11.2 microdeletion

See 15q24 microdeletion syndrome

See Chromosome 16p deletion

See 16p11.2 deletion syndrome

See Chromosome 16q deletion

See 16q24.3 microdeletion syndrome

See Chromosome 17p deletion

See Chromosome 17q deletion

See Chromosome 17q11.2 deletion syndrome

See 17q12 deletion syndrome

See Koolen de Vries syndrome

See 17q23.1q23.2 microdeletion syndrome

See 17q23.1q23.2 microdeletion syndrome

See Mosaic monosomy 18

See Chromosome 18p deletion

See Distal chromosome 18q deletion syndrome

See Proximal chromosome 18q deletion syndrome

See Chromosome 19p deletion

See 19p13.12 microdeletion syndrome

See Chromosome 19q deletion

See Chromosome 1p deletion

See Chromosome 1p36 deletion syndrome

See Chromosome 1q deletion

See 1q21.1 microdeletion syndrome

See Chromosome 1q41-q42 deletion syndrome

See 1q44 microdeletion syndrome

See Chromosome 20p deletion

See 20p12.3 microdeletion syndrome

See Chromosome 20q deletion

See Chromosome 21q deletion

See Mosaic monosomy 22

See Chromosome 22q deletion

See 22q13.3 deletion syndrome

See 22q13.3 deletion syndrome

See Chromosome 2p deletion

See 2p15p16.1 microdeletion syndrome

See 2p15p16.1 microdeletion syndrome

See Chromosome 2q deletion

See 2q23.1 microdeletion syndrome

See Chromosome 2q24 microdeletion syndrome

See SATB2-associated syndrome

See Chromosome 3p deletion

See Chromosome 3p- syndrome

See Chromosome 3q deletion

See 3q29 microdeletion syndrome

See 3q29 microdeletion syndrome

See Chromosome 4p deletion

See Chromosome 4q deletion

See Chromosome 5p deletion

See Cri du chat syndrome

See Chromosome 5q deletion

See 5q14.3 microdeletion syndrome

See Chromosome 6p deletion

See Chromosome 6q deletion

See Chromosome 6q25 microdeletion syndrome

See Chromosome 7p deletion

See Chromosome 7q deletion

See Williams syndrome

See Chromosome 8p deletion

See Chromosome 8p23.1 deletion

See Chromosome 8q deletion

See Trichorhinophalangeal syndrome type 2

See Chromosome 9p deletion

See Chromosome 9q deletion

See Chromosome Xp deletion

See Chromosome Xq deletion

See Xanthoma disseminatum

See Microcephalic osteodysplastic primordial dwarfism type 1

See Microcephalic osteodysplastic primordial dwarfism type 2

See Microcephalic osteodysplastic primordial dwarfism type 2

See Orofaciodigital syndrome 12

See Morgellons

See Morning glory syndrome

See Mucopolysaccharidosis type IVA

See Mucopolysaccharidosis type IV

See Mucopolysaccharidosis type IVA

See Mucopolysaccharidosis type IVA

See Stiff person syndrome

See Hereditary sensory and autonomic neuropathy type 2

See Mosaic monosomy 18

See Mosaic monosomy 22

See Tetrasomy 9p

See Diploid-triploid mosaicism

See Chromosome 10, uniparental disomy

See Chromosome 16 trisomy

See Chromosome 1, uniparental disomy 1q12 q21

See Trisomy 2 mosaicism

See Chromosome 20 trisomy

See Mosaic trisomy 13

See Mosaic trisomy 14

See Mosaic trisomy 22

See Mosaic trisomy 7

See Mosaic trisomy 8

See Mosaic trisomy 9

See Chromosome 5, uniparental disomy

See Thrombotic thrombocytopenic purpura, acquired

See Manitoba oculotrichoanal syndrome

See Congenital toxoplasmosis - not a rare disease

See Amyotrophic lateral sclerosis

See Neuropathy, distal hereditary motor, Jerash type

See Mounier-Kuhn syndrome

See Acute mountain sickness

See MAGIC syndrome

See MAGIC syndrome

See Moyamoya disease

See Alopecia epilepsy oligophrenia syndrome of Moynahan

See Alopecia epilepsy oligophrenia syndrome of Moynahan

See Mitochondrial Membrane Protein-Associated Neurodegeneration

See Distal myopathy with vocal cord weakness

See MPDU1-CDG (CDG-If)

See MPDU1-CDG (CDG-If)

See Malignant migrating partial seizures of infancy

See Membranoproliferative glomerulonephritis

See Dense deposit disease

See MPI-CDG (CDG-Ib)

See MPI-CDG (CDG-Ib)

See Mild phenylketonuria

See Maternal hyperphenylalaninemia

See Malignant peripheral nerve sheath tumor

See Myeloperoxidase deficiency

See Microcornea posterior megalolenticonus persistent fetal vasculature coloboma

See Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome

See Mucopolysaccharidosis

See Mucopolysaccharidosis type I

See Mucopolysaccharidosis type II

See Mucopolysaccharidosis type IIIA

See Mucopolysaccharidosis type IIIB

See Mucopolysaccharidosis type IIIC

See Mucopolysaccharidosis type IIID

See Mucopolysaccharidosis type IVA

See Morquio syndrome B

See Mucopolysaccharidosis type VI

See Mucopolysaccharidosis type VII

See Mucopolysaccharidosis type I

See Mucopolysaccharidosis type II

See Mucopolysaccharidosis type IIIA

See Mucopolysaccharidosis type IIIB

See Mucopolysaccharidosis type IIIC

See Mucopolysaccharidosis type IIID

See Mucopolysaccharidosis type IVA

See Morquio syndrome B

See Scheie syndrome

See Mucopolysaccharidosis type VI

See Mucopolysaccharidosis type VII

See Hurler syndrome

See Hurler syndrome

See Hurler–Scheie syndrome

See Hurler–Scheie syndrome

See Scheie syndrome

See Scheie syndrome

See Mucopolysaccharidosis type IIIA

See Mucopolysaccharidosis type IIIC

See Mucopolysaccharidosis type IIID

See Mucopolysaccharidosis type IV

See Mucopolysaccharidosis type IVA

See Scheie syndrome

See Malignant migrating partial seizures of infancy

See Hurler syndrome

See Hurler–Scheie syndrome

See Mucopolysaccharidosis type III

See Mucopolysaccharidosis type IIIA

See Mucopolysaccharidosis type IIIC

See Mucopolysaccharidosis type IIID

See Scheie syndrome

See Mucopolysaccharidosis type IV

See Mucopolysaccharidosis type IVA

See Autosomal dominant intermediate Charcot-Marie-Tooth

See Myxoid liposarcoma

See Multicystic renal dysplasia, bilateral

See SYNGAP1-related non-syndromic intellectual disability

See Mullerian aplasia

See Melkersson-Rosenthal syndrome

See Melkersson-Rosenthal syndrome

See Mental retardation, X-linked 14

See Christianson syndrome

See Partington syndrome

See Mental retardation X-linked syndromic 11

See PPM-X syndrome

See X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

See Renpenning syndrome 1

See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures

See Wilson-Turner syndrome

See Mental retardation X-linked syndromic 7

See Renpenning syndrome 1

See X-linked intellectual disability, Abidi type

See MECP2 duplication syndrome

See X-linked intellectual disability, Siderius type

See Multiple sclerosis - not a rare disease

See Pediatric multiple sclerosis

See Multiple system atrophy

See Melorheostosis with osteopoikilosis

See Multiple sulfatase deficiency

See Spondyloepimetaphyseal dysplasia, Handigodu type - not a rare disease

See Medullary sponge kidney

See Morgagni-Stewart-Morel syndrome

See Mendelian susceptibility to mycobacterial diseases

See Atypical mycobacteriosis, familial

See IL12RB1 deficiency

See IL12RB1 deficiency

See Megalocornea - spherophakia - secondary glaucoma

See Marinesco-Sjogren syndrome

See Syndactyly type 9

See Multiple self healing squamous epithelioma

See Frontotemporal dementia

See Maple syrup urine disease

See Maple syrup urine disease type 1B

See Maple syrup urine disease type 1A

See Maple syrup urine disease type 2

See Maple syrup urine disease type 1B

See Maple syrup urine disease type 1B

See Maple syrup urine disease type 2

See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

See RRM2B-related mitochondrial DNA depletion syndrome

See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome

See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

See Abetalipoproteinemia

See Mohr-Tranebjaerg syndrome

See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

See Pityriasis lichenoides et varioliformis acuta

See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

See Adenocarcinoma of the appendix

See Goblet cell carcinoid

See Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

See Muckle-Wells syndrome

See Kawasaki disease

See Hereditary mucoepithelial dysplasia

See I cell disease

See Sialidosis, type II

See Mucolipidosis III alpha/beta

See Mucolipidosis type 4

See Hurler syndrome

See Hurler–Scheie syndrome

See Scheie syndrome

See Hurler syndrome

See Hurler–Scheie syndrome

See Scheie syndrome

See Mucopolysaccharidosis type III

See Mucopolysaccharidosis type III

See Mucopolysaccharidosis type IIIA

See Mucopolysaccharidosis type IIIA

See Mucopolysaccharidosis type IIIB

See Mucopolysaccharidosis type IIIC

See Mucopolysaccharidosis type IIIC

See Mucopolysaccharidosis type IIID

See Mucopolysaccharidosis type IIID

See Mucopolysaccharidosis type IV

See Mucopolysaccharidosis type IVA

See Mucopolysaccharidosis type VI

See Mucopolysaccharidosis type VII

See Hurler syndrome

See Hurler–Scheie syndrome

See Scheie syndrome

See Morquio syndrome B

See Scheie syndrome

See Mucopolysaccharidosis type VI

See Mallory-Weiss syndrome

See Multiple endocrine neoplasia type 2B

See Multiple sulfatase deficiency

See Cystic fibrosis

See Leptospirosis

See Muenke Syndrome

See Marie Unna congenital hypotrichosis

See Hutchinson incisors

See Adenosarcoma of the uterus

See Mullerian aplasia

See Michels Caskey syndrome

See Michels Caskey syndrome

See Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly

See MURCS association

See Mullerian aplasia

See Multicentric osteolysis nephropathy

See Multicentric carpotarsal osteolysis syndrome

See Multicentric Castleman Disease

See Multicentric Castleman Disease

See Minicore myopathy with external ophthalmoplegia

See Chudley Rozdilsky syndrome

See Minicore myopathy, antenatal onset, with arthrogryposis

See Rigid spine syndrome

See Lewis-Sumner syndrome

See IgG4-related disease

See IgG4-related disease

See Punctate inner choroidopathy

See Multifocal lymphangioendotheliomatosis with thrombocytopenia

See Multifocal motor neuropathy

See Chronic recurrent multifocal osteomyelitis

See Acute posterior multifocal placoid pigment epitheliopathy

See Catecholaminergic polymorphic ventricular tachycardia

See Binswanger's disease

See Benign multicystic peritoneal mesothelioma

See Benign multicystic peritoneal mesothelioma

See Minicore myopathy with external ophthalmoplegia

See Rigid spine syndrome

See Minicore myopathy, antenatal onset, with arthrogryposis

See Daneman Davy Mancer syndrome

See Daneman Davy Mancer syndrome

See Multicore disease

See Glutaric acidemia type II

See Maffucci syndrome

See Basal cell carcinoma, multiple

See Nevoid basal cell carcinoma syndrome

See Multiple café-au-lait spots

See Multiple café-au-lait spots

See Multiple café-au-lait spots

See Ollier disease

See Lenz Majewski hyperostotic dwarfism

See Elliott Ludman Teebi syndrome

See Lethal congenital contracture syndrome 1

See Lethal congenital contracture syndrome 2

See Hereditary leiomyomatosis and renal cell cancer

See Hereditary leiomyomatosis and renal cell cancer

See Ribbing disease

See Sackey Sakati Aur syndrome

See Ollier disease

See Autoimmune polyglandular syndrome type 2

See Multiple endocrine neoplasia type 2B

See Multiple epiphyseal dysplasia 1

See Multiple epiphyseal dysplasia 4

See Multiple epiphyseal dysplasia 4

See Multiple epiphyseal dysplasia 4

See Multiple epiphyseal dysplasia 4

See Multiple epiphyseal dysplasia 5

See Hereditary multiple osteochondromas

See Spasticity multiple exostoses

See Multiple familial trichoepithelioma

See Multiple familial trichoepithelioma

See Cowden syndrome

See LEOPARD syndrome

See Familial multiple lipomatosis

See Cutaneous mastocytoma

See Teeth noneruption of with maxillary hypoplasia and genu valgum

See Stoelinga de Koomen Davis syndrome

See Oculo digital syndrome

See Painful orbital and systemic neurofibromas-marfanoid habitus syndrome

See Auriculoosteodysplasia

See Combined pituitary hormone deficiencies, genetic forms

See Multiple pterygium syndrome Escobar type

See Multiple pterygium syndrome Escobar type

See Popliteal pterygium syndrome, Bartsocas-Papas type

See Pediatric multiple sclerosis

See Autosomal dominant leukodystrophy with autonomic disease

See Steatocystoma multiplex

See Birdshot chorioretinopathy

See Frontotemporal dementia

See Steatocystoma multiplex

See Antley Bixler syndrome

See Neonatal Onset Multisystem Inflammatory disease

See Progeroid short stature with pigmented nevi

See Munchausen by proxy syndrome

See Typhus

See Jansen type metaphyseal chondrodysplasia

See Cold-induced sweating syndrome

See Central core disease

See Glycogen storage disease type 5

See Glycogen storage disease type 0, muscle

See Glycogen storage disease type 7

See Phosphoglycerate mutase deficiency

See Satoyoshi syndrome

See Muscle eye brain disease

See Mulibrey Nanism

See Spinal muscular atrophy 1

See Spinal muscular atrophy type 3

See Spinal muscular atrophy type 2

See Spinal muscular atrophy type 2

See Central core disease

See Limb-girdle muscular dystrophy type 2H

See Limb-girdle muscular dystrophy type 2H

See Limb-girdle muscular dystrophy, type 2D

See Limb-girdle muscular dystrophy type 2E

See Limb-girdle muscular dystrophy type 2F

See Becker muscular dystrophy

See Becker muscular dystrophy

See Bethlem myopathy

See Fukuyama type muscular dystrophy

See Congenital muscular dystrophy

See Congenital muscular dystrophy

See Fukuyama type muscular dystrophy

See Congenital muscular dystrophy

See Rigid spine syndrome

See Congenital muscular dystrophy type 1A

See Fukuyama type muscular dystrophy

See Miyoshi myopathy

See Duchenne muscular dystrophy

See Limb-girdle muscular dystrophy, type 2C

See Facioscapulohumeral muscular dystrophy

See Facioscapulohumeral muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy, type 2G

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 1A

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 2B

See Limb-girdle muscular dystrophy

See Familial visceral myopathy with external ophthalmoplegia

See Oculopharyngeal muscular dystrophy

See Limb-girdle muscular dystrophy type 2A

See Limb-girdle muscular dystrophy type 1A

See Limb-girdle muscular dystrophy type 1B

See Duchenne muscular dystrophy

See Emery-Dreifuss muscular dystrophy, X-linked

See Emery-Dreifuss muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy type 2I

See Limb-girdle muscular dystrophy type 1A

See Muscle eye brain disease

See Limb-girdle muscular dystrophy type 1A

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Limb-girdle muscular dystrophy

See Musculocontractural Ehlers-Danlos syndrome

See Intellectual deficit Buenos-Aires type

See Vohwinkel syndrome

See Mevalonic aciduria

See Mosaic variegated aneuploidy syndrome

See Mitral valve prolapse, familial, X-linked

See Marden-Walker syndrome

See Congenital myasthenic syndrome with episodic apnea

See Congenital myasthenic syndrome with episodic apnea

See Myasthenia gravis congenital

See Myasthenia gravis, limb-girdle

See Congenital myasthenic syndrome with episodic apnea

See Lambert Eaton myasthenic syndrome

See Congenital myasthenic syndrome associated with acetylcholine receptor deficiency

See Slow-channel congenital myasthenic syndrome

See Slow-channel congenital myasthenic syndrome

See Slow-channel congenital myasthenic syndrome

See Congenital myasthenic syndrome with episodic apnea

See Lambert Eaton myasthenic syndrome

See Atypical mycobacteriosis, familial

See Mycobacterium Abscessus

See Mycobacterium Avium Complex infections

See Mycobacterium Avium Complex infections

See Mycobacterium Avium Complex infections

See Mycobacterium Chelonae

See Mycobacterium fortuitum

See Mycobacterium Gordonae

See Mycobacterium Kansasii

See Mycobacterium Malmoense

See Mycobacterium Marinum

See Mycobacterium Xenopi

See Leukoencephalopathy with vanishing white matter

See Myelodysplastic syndromes

See MIRAGE syndrome

See Myelodysplastic/myeloproliferative disease

See Myeloid leukemia

See Myelofibrosis

See Acute myeloid leukemia

See Multiple myeloma

See Multiple myeloma

See MYH7-related scapuloperoneal myopathy

See MYH7-related scapuloperoneal myopathy

See MYH7-related scapuloperoneal myopathy

See MYH9 related thrombocytopenia

See Moyamoya disease

See Adenosine monophosphate deaminase 1 deficiency

See Cardiomyopathy, fatal fetal, due to myocardial calcification

See Heart tumor

See Epilepsy with myoclonic-atonic seizures

See Myoclonus-dystonia

See Myoclonic epilepsy with ragged red fibers

See Lafora disease

See Unverricht-Lundborg disease

See Dentatorubral-pallidoluysian atrophy

See Juvenile myoclonic epilepsy

See Dravet syndrome

See Nystagmus, myoclonic

See Dyssynergia cerebellaris myoclonica

See Sialidosis type I

See Unverricht-Lundborg disease

See Myoclonus-dystonia

See Myoclonus cerebellar ataxia deafness

See Myoclonus-dystonia

See Arthrogryposis multiplex congenita

See Myoclonic epilepsy with ragged red fibers

See Myoepithelial carcinoma

See Hereditary proximal myopathy with early respiratory failure

See Hereditary proximal myopathy with early respiratory failure

See Mitochondrial neurogastrointestinal encephalopathy syndrome

See Laing distal myopathy

See Adenosine monophosphate deaminase 1 deficiency

See Phosphoglycerate mutase deficiency

See Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay

See Inclusion body myopathy 3

See Sideroblastic anemia and mitochondrial myopathy

See Trabecular myopathy

See Early-onset myopathy, areflexia, respiratory distress and dysphagia

See Bethlem myopathy

See Central core disease

See Central core disease

See Autosomal dominant centronuclear myopathy

See Autosomal recessive centronuclear myopathy

See Autosomal recessive centronuclear myopathy

See Carey-Fineman-Ziter syndrome

See Congenital fiber type disproportion

See Distal myopathy with vocal cord weakness

See Sideroblastic anemia and mitochondrial myopathy

See Hereditary proximal myopathy with early respiratory failure

See Tubular aggregate myopathy

See X-linked myopathy with excessive autophagy

See Carey-Fineman-Ziter syndrome

See Glycogen storage disease type 5

See Knobloch syndrome

See Myopia 6

See X-linked congenital stationary night blindness

See Idiopathic inflammatory myopathy

See Fibrodysplasia ossificans progressiva

See Myofibrillar myopathy

See Myotonic dystrophy

See Paramyotonia congenita

See Potassium aggravated myotonia

See Potassium aggravated myotonia

See Myotonic dystrophy

See Potassium aggravated myotonia

See Potassium aggravated myotonia

See Richieri Costa Da Silva syndrome

See Schwartz Jampel syndrome

See Schwartz Jampel syndrome

See Cylindrical spirals myopathy

See Schwartz Jampel syndrome

See Myotonic dystrophy type 2

See Autosomal dominant centronuclear myopathy

See Myopia 6

See Myxoid liposarcoma

See Myxoid liposarcoma

See Carney complex

See Carney complex

See Carney complex

See Mitral valve prolapse, familial, X-linked

See Cardiac valvular dysplasia, X-linked

See Myxozoa

See Marginal zone lymphoma

See N acetyltransferase deficiency

See N-acetylglutamate synthase deficiency

See Mucopolysaccharidosis type IIIB

See Mucopolysaccharidosis type VI

See Mucopolysaccharidosis type IVA

See I cell disease

See Mucopolysaccharidosis type IIID

See MGAT2-CDG (CDG-IIa)

See Free sialic acid storage disease

See Mitochondrial complex I deficiency

See NADH cytochrome B5 reductase deficiency

See NADH cytochrome B5 reductase deficiency

See Mitochondrial complex I deficiency

See NADH cytochrome B5 reductase deficiency

See Charcot-Marie-Tooth disease

See Naegeli syndrome

See N-acetylglutamate synthase deficiency

See Kanzaki disease

See N-acetyl-alpha-D-galactosaminidase deficiency type III

See Schindler disease type 1

See Nager acrofacial dysostosis

See Nager acrofacial dysostosis

See N-acetylglutamate synthase deficiency

See Naguib-Richieri-Costa syndrome

See Twenty-nail dystrophy

See Leukonychia totalis

See Salcedo syndrome

See Fetal and neonatal alloimmune thrombocytopenia

See Dentatorubral-pallidoluysian atrophy

See Dilated cardiomyopathy with hypergonadotropic hypogonadism

See Spastic paraplegia 11

See Neonatal adrenoleukodystrophy

See Necrotizing autoimmune myopathy

See Carney complex

See Charcot-Marie-Tooth disease

See Free sialic acid storage disease

See Deafness, X-linked 2

See OSMED Syndrome

See OSMED Syndrome

See Seckel syndrome

See Narcolepsy

See Narcolepsy

See Neuropathy ataxia retinitis pigmentosa syndrome

See Neuropathy ataxia retinitis pigmentosa syndrome

See Johanson-Blizzard syndrome

See Acrodysostosis

See Extranodal nasal NK/T cell lymphoma

See Nonalcoholic steatohepatitis - not a rare disease

See Nasopharyngeal carcinoma

See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

See N acetyltransferase deficiency

See Steatocystoma multiplex with natal teeth

See Athabaskan brainstem dysgenesis

See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

See MPV17-related hepatocerebral mitochondrial DNA depletion syndrome

See Kohler disease

See Neuroblastoma

See Nonbullous congenital ichthyosiform erythroderma

See Neurodegeneration with brain iron accumulation

See Pantothenate kinase-associated neurodegeneration

See Mitochondrial Membrane Protein-Associated Neurodegeneration

See Infantile neuroaxonal dystrophy

See Mitochondrial Membrane Protein-Associated Neurodegeneration

See Beta-Propeller Protein-Associated Neurodegeneration

See COASY Protein-Associated Neurodegeneration

See Nicolaides-Baraitser syndrome

See Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - not a rare disease

See Nonbullous congenital ichthyosiform erythroderma

See Neuronal ceroid lipofuscinosis

See Northern epilepsy

See North Carolina macular dystrophy

See GRIN1-associated disorders

See GRIN1-associated disorders

See Nondystrophic myotonia

See Leukonychia totalis

See Norrie disease

See New daily-persistent headache

See Aganglionosis, total intestinal

See Necrotizing enterocolitis

See Lemierre syndrome

See Necrobiosis lipoidica

See Leigh syndrome

See IRF2BPL-related disorders

See Neurodevelopmental disorder with severe motor impairment and absent language

See Amish Nemaline Myopathy

See Nemaline myopathy

See Amish Nemaline Myopathy

See Amish Nemaline Myopathy

See Amish Nemaline Myopathy

See Nemaline myopathy

See Nemaline myopathy

See NF-kappa B Essential Modulator Deficiency

See Woods Black Norbury syndrome

See Neonatal hemochromatosis

See Neonatal herpes

See Congenital human immunodeficiency virus

See Neonatal herpes

See Congenital human immunodeficiency virus

See Congenital hypothyroidism

See Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis

See Iodine antenatal exposure

See Neonatal stroke

See Neonatal systemic lupus erythematosus

See Neonatal systemic lupus erythematosus

See Holocarboxylase synthetase deficiency

See Atelosteogenesis type 2

See Respiratory distress syndrome, infant

See Stuve-Wiedemann syndrome

See Neonatal systemic lupus erythematosus

See Neonatal intrahepatic cholestasis caused by citrin deficiency

See Neonatal intrahepatic cholestasis caused by citrin deficiency

See IgA nephropathy

See Wilms' tumor

See Perlman syndrome

See Nephrogenic Systemic Fibrosis

See Balkan endemic nephropathy

See Nephropathy, deafness, and hyperparathyroidism

See Autosomal recessive Alport syndrome

See Denys-Drash syndrome

See BK-virus nephropathy

See Denys-Drash syndrome

See Congenital nephrotic syndrome Finnish type

See Galloway-Mowat syndrome

See Nephrosis deafness urinary tract digital malformation

See Congenital nephrotic syndrome Finnish type

See Barakat syndrome

See Diffuse mesangial sclerosis

See Nephrotic syndrome, idiopathic, steroid-resistant

See Groll Hirschowitz syndrome

See Herpes zoster oticus

See Mahvash disease

See Congenital hyperinsulinism

See Mahvash disease

See Netherton syndrome

See Netherton syndrome

See Ocular albinism type 1

See Sialidosis, type II

See Sialidosis, type II

See Megalocornea-intellectual disability syndrome

See Encephalopathy recurrent of childhood

See Neu Laxova syndrome

See Neural crest tumor

See Sialidosis, type II

See Sialidosis, type II

See Galactosialidosis

See Galactosialidosis

See Schwannoma

See Schwannomatosis

See Schwannoma

See Acoustic neuroma

See Hereditary neuralgic amyotrophy

See Neuroacanthocytosis

See Hunter Carpenter Macdonald syndrome

See Infantile neuroaxonal dystrophy

See Infantile neuroaxonal dystrophy

See Pantothenate kinase-associated neurodegeneration

See Schindler disease type 1

See Hereditary diffuse leukoencephalopathy with spheroids

See Hirschsprung disease ganglioneuroblastoma

See Neurocutaneous melanosis

See Cysticercosis

See HIBCH deficiency

See Cerebral folate deficiency

See Beta-Propeller Protein-Associated Neurodegeneration

See Pantothenate kinase-associated neurodegeneration

See Infantile neuroaxonal dystrophy

See Mitochondrial Membrane Protein-Associated Neurodegeneration

See Beta-Propeller Protein-Associated Neurodegeneration

See COASY Protein-Associated Neurodegeneration

See Mitochondrial Membrane Protein-Associated Neurodegeneration

See COASY Protein-Associated Neurodegeneration

See Mitochondrial Membrane Protein-Associated Neurodegeneration

See Beta-Propeller Protein-Associated Neurodegeneration

See Infantile neuroaxonal dystrophy

See GRIN1-associated disorders

See GRIN1-associated disorders

See IRF2BPL-related disorders

See Embryonal tumor with multilayered rosettes

See Neuroendocrine tumor

See Neuroendocrine tumor

See Pancreatic neuroendocrine tumor

See Colloid cysts of third ventricle

See Neurofibromatosis type 2

See Legius syndrome

See