User:Omer476/Books/Rare diseases (A-O)

Rare diseases (A-O)

 * Rare disease
 * 13q deletion syndrome
 * 2-Hydroxyglutaric aciduria
 * 3C syndrome
 * 3q29 microdeletion syndrome
 * 48, XXXX
 * 49, XXXXX
 * 8p23.1 duplication syndrome
 * Aarskog–Scott syndrome
 * ABCD syndrome
 * Abdominal epilepsy
 * Abetalipoproteinemia
 * Ablepharon macrostomia syndrome
 * Absent adrenal gland
 * Acanthamoeba keratitis
 * Acheiropodia
 * Achondroplasia
 * Achromatopsia
 * Acrocallosal syndrome
 * Acrodysostosis
 * Acrofrontofacionasal dysostosis
 * Acromesomelic dysplasia
 * Acromicric dysplasia
 * Acute eosinophilic pneumonia
 * Adams–Oliver syndrome
 * Adducted thumb syndrome
 * Adenosine deaminase deficiency
 * Adenosine monophosphate deaminase deficiency type 1
 * Adenylosuccinate lyase deficiency
 * Adermatoglyphia
 * Adiposis dolorosa
 * Adipsia
 * Adrenoleukodystrophy
 * Adult-onset Still's disease
 * AIDS dysmorphic syndrome
 * Alagille syndrome
 * Aldolase A deficiency
 * Alexander disease
 * Alien hand syndrome
 * Alopecia universalis
 * ALOX12B
 * Alpha-mannosidosis
 * Alström syndrome
 * Alveolar capillary dysplasia
 * Ameloblastic carcinoma
 * Amyotrophic lateral sclerosis
 * Andersen–Tawil syndrome
 * Angelman syndrome
 * Anomalous aortic origin of a coronary artery
 * Antisynthetase syndrome
 * Antithrombin III deficiency
 * Antley–Bixler syndrome
 * Aortopulmonary septal defect
 * Apert syndrome
 * Aphallia
 * Aposthia
 * Apparent mineralocorticoid excess syndrome
 * Aquagenic urticaria
 * AREDYLD syndrome
 * Argininosuccinic aciduria
 * Aromatase excess syndrome
 * Arrhinia
 * Arterial tortuosity syndrome
 * Arthrogryposis
 * Aspartylglucosaminuria
 * Asplenia with cardiovascular anomalies
 * Atelosteogenesis, type II
 * ATR-16 syndrome
 * Atransferrinemia
 * Atypical trigeminal neuralgia
 * Auto-brewery syndrome
 * Autoimmune polyendocrine syndrome
 * Autosomal dominant hypophosphatemic rickets
 * Autosomal dominant polycystic kidney disease
 * Autosomal dominant porencephaly type I
 * Autosomal recessive polycystic kidney disease
 * Baller–Gerold syndrome
 * Barakat syndrome
 * Bare lymphocyte syndrome 2
 * Barraquer–Simons syndrome
 * Batten disease
 * Behçet's disease
 * Behr syndrome
 * Benedikt syndrome
 * Benign symmetric lipomatosis
 * Berk–Tabatznik syndrome
 * Beta-ketothiolase deficiency
 * Beta-mannosidosis
 * Bhaskar–Jagannathan syndrome
 * Bietti's crystalline dystrophy
 * Biliary atresia
 * Birdshot chorioretinopathy
 * Birt–Hogg–Dubé syndrome
 * Bladder exstrophy
 * Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
 * Bloom syndrome
 * Blue diaper syndrome
 * Boomerang dysplasia
 * Börjeson-Forssman-Lehmann syndrome
 * Bruck syndrome
 * Brunner syndrome
 * CAMFAK syndrome
 * Camurati–Engelmann disease
 * Canadian Organization for Rare Disorders
 * Canavan disease
 * Capillary leak syndrome
 * Carcinosarcoma
 * Carnitine palmitoyltransferase I deficiency
 * Carnitine-acylcarnitine translocase deficiency
 * Carnosinemia
 * Caroli disease
 * Carpenter syndrome
 * Catamenial pneumothorax
 * Caudal regression syndrome
 * Cenani–Lenz syndactylism
 * Cerebral salt-wasting syndrome
 * Cerebroretinal microangiopathy with calcifications and cysts
 * Cerebrotendineous xanthomatosis
 * Chédiak–Higashi syndrome
 * Cherubism
 * Chorea acanthocytosis
 * Chromosome 5q deletion syndrome
 * Citrullinemia type I
 * Cleidocranial dysostosis
 * Cloacal exstrophy
 * Clostridium sordellii
 * CLOVES syndrome
 * Cockayne syndrome
 * Coffin–Lowry syndrome
 * Cogan syndrome
 * Colloid cyst
 * Confluent and reticulated papillomatosis
 * Congenital bilateral perisylvian syndrome
 * Congenital chloride diarrhea
 * Congenital disorder of glycosylation type IIc
 * Congenital ichthyosiform erythroderma
 * Congenital insensitivity to pain
 * Congenital insensitivity to pain with anhidrosis
 * Congenital lactic acidosis
 * Congenital stromal corneal dystrophy
 * Conjoined twins
 * Cooks syndrome
 * Copenhagen disease
 * Cornelia de Lange Syndrome
 * Corticobasal degeneration
 * Cowden syndrome
 * Cranio–lenticulo–sutural dysplasia
 * Craniodiaphyseal dysplasia
 * Craniopagus parasiticus
 * Cri du chat
 * Crigler–Najjar syndrome
 * Crome syndrome
 * Crouzon syndrome
 * Cruveilhier–Baumgarten disease
 * Cryopyrin-associated periodic syndrome
 * Currarino syndrome
 * Cutis marmorata telangiectatica congenita
 * Cyclic vomiting syndrome
 * Cyclopia
 * Cystic fibrosis
 * Daentl Townsend Siegel syndrome
 * Dahlberg Borer Newcomer syndrome
 * Dandy–Walker syndrome
 * Danon disease
 * Deficiency of the interleukin-1–receptor antagonist
 * Degos disease
 * Dent's disease
 * Denys–Drash syndrome
 * Dermatopathia pigmentosa reticularis
 * Dextrocardia
 * Diabetes insipidus
 * Diffuse panbronchiolitis
 * Diphallia
 * Dipygus
 * Donohue syndrome
 * Dravet syndrome
 * Dubowitz syndrome
 * Dupuytren's contracture
 * Dysferlinopathy
 * Dysfibrinogenemia
 * Dyskeratosis congenita
 * EAST syndrome
 * Ectopia cordis
 * Ectrodactyly
 * Edwards syndrome
 * EEM syndrome
 * Ehlers–Danlos syndrome
 * Eiken syndrome
 * Emily's Entourage
 * Endocardial fibroelastosis
 * Enterolith
 * Epidermodysplasia verruciformis
 * Epidermolysis bullosa
 * Epidermolysis bullosa simplex
 * Epidermolytic hyperkeratosis
 * Epispadias
 * Erdheim–Chester disease
 * Estrogen insensitivity syndrome
 * Ewing's sarcoma
 * Extramammary Paget's disease
 * Fabry disease
 * FACES syndrome
 * Facial Onset Sensory Motor Neuropathy syndrome
 * Facioscapulohumeral muscular dystrophy
 * Fahr's syndrome
 * Familial isolated vitamin E deficiency
 * Familial male-limited precocious puberty
 * Farber disease
 * Fatal familial insomnia
 * Febrile neutrophilic dermatosis
 * Fetal trimethadione syndrome
 * Fibrochondrogenesis
 * Fibrodysplasia ossificans progressiva
 * Fibromuscular dysplasia
 * Fields' disease
 * Finnish heritage disease
 * Fitzsimmons–Guilbert syndrome
 * Floating–Harbor syndrome
 * Florid cutaneous papillomatosis
 * Follicle-stimulating hormone insensitivity
 * Fountain syndrome
 * Frank–ter Haar syndrome
 * Friedreich's ataxia
 * Fucosidosis
 * Fukuyama congenital muscular dystrophy
 * Fumarase deficiency
 * Galactocele
 * Galactose epimerase deficiency
 * Galactosialidosis
 * Galloway Mowat syndrome
 * Gangliosidosis
 * GAPO syndrome
 * Garre's sclerosing osteomyelitis
 * Gastric atresia
 * Gaucher's disease
 * Genetic Alliance UK
 * Genitopatellar syndrome
 * Gerodermia osteodysplastica
 * Gerstmann–Sträussler–Scheinker syndrome
 * Gestational trophoblastic disease
 * Giant axonal neuropathy
 * Giant platelet disorder
 * Giant-cell tumor of the tendon sheath
 * Gillespie syndrome
 * Gitelman syndrome
 * Glanzmann's thrombasthenia
 * Glassy cell carcinoma of the cervix
 * Glucagonoma
 * Glutathione synthetase deficiency
 * Glycine encephalopathy
 * Glycogen storage disease
 * Glycogen storage disease type II
 * GM1 gangliosidoses
 * GM2 gangliosidoses
 * GM2-gangliosidosis, AB variant
 * Goldenhar syndrome
 * Gomez and López-Hernández syndrome
 * Gonadotropin-releasing hormone insensitivity
 * Goodpasture syndrome
 * Gorham's disease
 * Gourmand syndrome
 * GRACILE syndrome
 * Gray platelet syndrome
 * Brooke Greenberg
 * Griscelli syndrome
 * Guanidinoacetate methyltransferase deficiency
 * Gunther disease
 * Haemolacria
 * Hagemoser–Weinstein–Bresnick syndrome
 * Hajdu–Cheney syndrome
 * Hallermann–Streiff syndrome
 * Halo nevus
 * Hand-foot-genital syndrome
 * Hanhart syndrome
 * Harlequin syndrome
 * Harlequin-type ichthyosis
 * Hartnup disease
 * Hay–Wells syndrome
 * Hemiballismus
 * Hemifacial hypertrophy
 * Hemihydranencephaly
 * Hemoglobinemia
 * Hepatic veno-occlusive disease
 * Hereditary mucoepithelial dysplasia
 * Hereditary multiple exostoses
 * Hereditary sensory and autonomic neuropathy
 * Hereditary sensory and autonomic neuropathy type I
 * Hereditary spastic paraplegia
 * Hermansky–Pudlak syndrome
 * Hidradenitis suppurativa
 * Histoplasmosis
 * Huntington's disease-like syndrome
 * Hydranencephaly
 * Hyper-IgM syndrome type 2
 * Hyperkalemic periodic paralysis
 * Hyperphosphatasia with mental retardation syndrome
 * Hypertrichosis
 * Hypertrophy of breast
 * Hypertryptophanemia
 * Hypervalinemia
 * Hypocementosis
 * Hypokalemic periodic paralysis
 * Hypophosphatasia
 * Hypotrichosis with juvenile macula dystrophy
 * Ichthyosis bullosa of Siemens
 * Ichthyosis follicularis with alopecia and photophobia syndrome
 * Ichthyosis hystrix
 * Idiopathic CD4+ lymphocytopenia
 * Idiopathic granulomatous hepatitis
 * Idiopathic sclerosing mesenteritis
 * Imerslund–Gräsbeck syndrome
 * Iminoglycinuria
 * Immunodeficiency–centromeric instability–facial anomalies syndrome
 * Impossible syndrome
 * Inborn errors of steroid metabolism
 * Infantile apnea
 * Infantile free sialic acid storage disease
 * Infantile Refsum disease
 * IPEX syndrome
 * Iridogoniodysgenesis, dominant type
 * Isolated 17,20-lyase deficiency
 * Isovaleric acidemia
 * Jackson–Weiss syndrome
 * Jalili syndrome
 * Jansen's metaphyseal chondrodysplasia
 * Jervell and Lange-Nielsen syndrome
 * Johanson–Blizzard syndrome
 * Juvenile nephronophthisis
 * Juvenile osteoporosis
 * Juvenile primary lateral sclerosis
 * Kabuki syndrome
 * Kapur–Toriello syndrome
 * Kasabach–Merritt syndrome
 * Kaufman oculocerebrofacial syndrome
 * Kearns–Sayre syndrome
 * Keppen–Lubinsky syndrome
 * Keratolytic winter erythema
 * Keutel syndrome
 * Kikuchi disease
 * Kimura's disease
 * Kindler syndrome
 * Kleine–Levin syndrome
 * Klippel–Trénaunay syndrome
 * Köhler disease
 * Kohlschütter-Tönz syndrome
 * Krabbe disease
 * Kufs disease
 * Kuru (disease)
 * Lafora disease
 * Lamellar ichthyosis
 * Langer–Giedion syndrome
 * Langerhans cell histiocytosis
 * Laron syndrome
 * Larsen syndrome
 * Laryngeal papillomatosis
 * Laurence–Moon syndrome
 * Leber's congenital amaurosis
 * Legg–Calvé–Perthes disease
 * Leigh disease
 * Lelis syndrome
 * Lemierre's syndrome
 * Leontiasis ossea
 * Léri–Weill dyschondrosteosis
 * Lesch–Nyhan syndrome
 * Lethal arthrogryposis with anterior horn cell disease
 * Lethal congenital contracture syndrome
 * Letterer–Siwe disease
 * Leukocyte adhesion deficiency
 * Leukocyte adhesion deficiency-1
 * Leukodystrophy
 * Leukoencephalopathy with vanishing white matter
 * Leydig cell hypoplasia
 * Lhermitte–Duclos disease
 * Li–Fraumeni syndrome
 * Liddle's syndrome
 * Lipoid congenital adrenal hyperplasia
 * Lipoprotein lipase deficiency
 * Lipschütz ulcer
 * List of disorders included in newborn screening programs
 * Parechovirus B
 * Loeys–Dietz syndrome
 * Lutembacher's syndrome
 * Lymphangioleiomyomatosis
 * Lymphangiomatosis
 * Lymphomatoid papulosis
 * Lyngstadaas syndrome
 * Lysinuric protein intolerance
 * Lysosomal acid lipase deficiency
 * Machado–Joseph disease
 * Macrocephaly-capillary malformation
 * Macrophagic myofasciitis
 * Macular hypoplasia
 * Mal de debarquement
 * Malakoplakia
 * Malignant hyperthermia
 * Malonyl-CoA decarboxylase deficiency
 * Malpuech facial clefting syndrome
 * Maple syrup urine disease
 * Marden–Walker syndrome
 * Marfan syndrome
 * Marshall syndrome
 * MASA syndrome
 * May–Hegglin anomaly
 * McGillivray syndrome
 * MDP syndrome
 * Meckel syndrome
 * Megacystis
 * Meleda disease
 * Mendelian susceptibility to mycobacterial disease
 * Menkes disease
 * MERRF syndrome
 * Mesothelioma
 * Metachondromatosis
 * Metachromatic leukodystrophy
 * Metaphyseal dysplasia
 * Metascreen
 * Methylmalonic acidemia
 * MGUS polyneuropathy
 * Michel aplasia
 * Michels Caskey syndrome
 * Michels syndrome
 * Microhydranencephaly
 * Microphthalmia
 * Microspherophakia
 * Microvillous inclusion disease
 * Miller–Dieker syndrome
 * Mismatch repair cancer syndrome
 * Mitochondrial neurogastrointestinal encephalopathy syndrome
 * Möbius syndrome
 * MOMO syndrome
 * Monilethrix
 * MORM syndrome
 * Morquio syndrome
 * Motor neuron disease
 * Mowat–Wilson syndrome
 * Muckle–Wells syndrome
 * Mucormycosis
 * Mucosal melanoma
 * Mulibrey nanism
 * Multiple epiphyseal dysplasia
 * Multiple sulfatase deficiency
 * Multiple system atrophy
 * MURCS association
 * Musical hallucinations
 * Myelokathexis
 * Myositis ossificans
 * Naegeli–Franceschetti–Jadassohn syndrome
 * Nager acrofacial dysostosis
 * Nail–patella syndrome
 * Nakajo syndrome
 * Nance–Horan syndrome
 * Nasodigitoacoustic syndrome
 * Necrolytic migratory erythema
 * Necrotizing fasciitis
 * Neonatal diabetes mellitus
 * Neonatal hemochromatosis
 * Nephrogenic diabetes insipidus
 * Netherton syndrome
 * Neuromyelitis optica
 * Neuromyotonia
 * Neuronal ceroid lipofuscinosis
 * Newborn screening
 * Niemann–Pick disease
 * Niemann–Pick disease, type C
 * Nijmegen breakage syndrome
 * Nodding disease
 * Non-24-hour sleep–wake disorder
 * Northern epilepsy syndrome
 * Occipital horn syndrome
 * Oculodentodigital dysplasia
 * Oculopharyngeal muscular dystrophy
 * Ogilvie syndrome
 * Oguchi disease
 * Ollier disease
 * Omenn syndrome
 * Ondine's curse
 * Opsismodysplasia
 * Opsoclonus myoclonus syndrome
 * Oral-facial-digital syndrome
 * Ornithine translocase deficiency
 * Orofaciodigital syndrome 1
 * Osteochondritis dissecans
 * Osteochondrodysplasia
 * Osteogenesis imperfecta
 * Osteopetrosis
 * Oxycephaly