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