Rare disease

Orphanet · 11,456

• ORPHA:68769510p13-p14 deletion syndrome
• ORPHA:27641310q22.3q23.3 microdeletion syndrome
• ORPHA:27642210q22.3q23.3 microduplication syndrome
• ORPHA:30030511p15.4 microduplication syndrome
• ORPHA:44400211q22.2q22.3 microdeletion syndrome
• ORPHA:31388412p12.1 microdeletion syndrome
• ORPHA:9406312q14 microdeletion syndrome
• ORPHA:28951312q15q21 microdeletion syndrome
• ORPHA:71781212q24.31 microdeletion syndrome
• ORPHA:41203513q12.3 microdeletion syndrome
• ORPHA:26112014q11.2 microdeletion syndrome
• ORPHA:26122914q11.2 microduplication syndrome
• ORPHA:26420014q22q23 microdeletion syndrome
• ORPHA:40193514q24.1q24.3 microdeletion syndrome
• ORPHA:48828014q32 duplication syndrome
• ORPHA:31458515q overgrowth syndrome
• ORPHA:26118315q11.2 microdeletion syndrome
• ORPHA:23844615q11q13 microduplication syndrome
• ORPHA:19931815q13.3 microdeletion syndrome
• ORPHA:9406515q24 microdeletion syndrome
• ORPHA:26121116p11.2p12.2 microdeletion syndrome
• ORPHA:26120416p11.2p12.2 microduplication syndrome
• ORPHA:48540516p12.1p12.3 triplication syndrome
• ORPHA:26123616p13.11 microdeletion syndrome
• ORPHA:26124316p13.11 microduplication syndrome
• ORPHA:9607816p13.3 microduplication syndrome
• ORPHA:65854016q22 deletion syndrome
• ORPHA:35262916q24.1 microdeletion syndrome
• ORPHA:26125016q24.3 microdeletion syndrome
• ORPHA:171317p11.2 microduplication syndrome
• ORPHA:21738517p13.3 microduplication syndrome
• ORPHA:9768517q11 microdeletion syndrome
• ORPHA:13947417q11.2 microduplication syndrome
• ORPHA:26126517q12 microdeletion syndrome
• ORPHA:26127217q12 microduplication syndrome
• ORPHA:36395817q21.31 microdeletion syndrome
• ORPHA:21734017q21.31 microduplication syndrome
• ORPHA:26127917q23.1q23.2 microdeletion syndrome
• ORPHA:52996217q24.2 microdeletion syndrome
• ORPHA:25434619p13.12 microdeletion syndrome
• ORPHA:35700119p13.13 microdeletion syndrome
• ORPHA:44798019p13.3 microduplication syndrome
• ORPHA:21734619q13.11 microdeletion syndrome
• ORPHA:2939481p21.3 microdeletion syndrome
• ORPHA:4019861p31p32 microdeletion syndrome
• ORPHA:4562981p35.2 microdeletion syndrome
• ORPHA:16061p36 deletion syndrome
• ORPHA:6562791p36.33 duplication syndrome
• ORPHA:2509891q21.1 microdeletion syndrome
• ORPHA:2509941q21.1 microduplication syndrome
• ORPHA:2509991q41q42 microdeletion syndrome
• ORPHA:2387691q44 microdeletion syndrome
• ORPHA:791542-aminoadipic 2-oxoadipic aciduria
• ORPHA:192-hydroxyglutaric aciduria
• ORPHA:791572-methylbutyryl-CoA dehydrogenase deficiency
• ORPHA:26129520p12.3 microdeletion syndrome
• ORPHA:31378120p13 microdeletion syndrome
• ORPHA:44405120q11.2 microdeletion syndrome
• ORPHA:36365920q11.2 microduplication syndrome
• ORPHA:26131120q13.33 microdeletion syndrome
• ORPHA:57421q deletion syndrome
• ORPHA:26132321q22.11q22.12 microdeletion syndrome
• ORPHA:56722q11.2 deletion syndrome
• ORPHA:172722q11.2 duplication syndrome
• ORPHA:3636802p13.2 microdeletion syndrome
• ORPHA:7178302p14p15 microdeletion syndrome
• ORPHA:2613492p15p16.1 microdeletion syndrome
• ORPHA:1636932p21 microdeletion syndrome
• ORPHA:3698812p21 microdeletion syndrome without cystinuria
• ORPHA:6998502p25.3 microduplication syndrome
• ORPHA:6847422q13 microdeletion syndrome
• ORPHA:2284022q23.1 microdeletion syndrome
• ORPHA:3139472q23.1 microduplication syndrome
• ORPHA:2510142q31.1 microdeletion syndrome
• ORPHA:2510192q32q33 deletion syndrome
• ORPHA:10012q37 microdeletion syndrome
• ORPHA:203-hydroxy-3-methylglutaric aciduria
• ORPHA:357013-hydroxy-3-methylglutaryl-CoA synthase deficiency
• ORPHA:3091273-hydroxyacyl-CoA dehydrogenase deficiency
• ORPHA:9393-hydroxyisobutyric aciduria
• ORPHA:63-methylcrotonyl-CoA carboxylase deficiency
• ORPHA:2899023-methylglutaconic aciduria
• ORPHA:670463-methylglutaconic aciduria type 1
• ORPHA:670473-methylglutaconic aciduria type 3
• ORPHA:670483-methylglutaconic aciduria type 4
• ORPHA:5052083-methylglutaconic aciduria type 8
• ORPHA:5052163-methylglutaconic aciduria type 9
• ORPHA:4450383-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
• ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
• ORPHA:793503-phosphoserine phosphatase deficiency, infantile/juvenile form
• ORPHA:73C syndrome
• ORPHA:26163M syndrome
• ORPHA:2938433MC syndrome
• ORPHA:4356383p25.3 microdeletion syndrome
• ORPHA:16213q13 microdeletion syndrome
• ORPHA:960953q26 microduplication syndrome
• ORPHA:3569473q26q27 microdeletion syndrome
• ORPHA:6956113q26q28 deletion syndrome
• ORPHA:3976953q27.3 microdeletion syndrome
• ORPHA:652863q29 microdeletion syndrome
• ORPHA:2510383q29 microduplication syndrome
• ORPHA:177245,X/46,XY mixed gonadal dysgenesis
• ORPHA:298246,XX difference of sex development
• ORPHA:9807846,XX difference of sex development induced by androgens excess
• ORPHA:32509346,XX difference of sex development induced by endogenous maternal-derived androgen
• ORPHA:32509946,XX difference of sex development induced by exogenous maternal-derived androgen
• ORPHA:9077646,XX difference of sex development induced by fetal androgens excess
• ORPHA:32506146,XX difference of sex development induced by fetoplacental androgens excess
• ORPHA:9114446,XX difference of sex development induced by maternal-derived androgen
• ORPHA:297346,XX difference of sex development-anorectal anomalies syndrome
• ORPHA:297546,XX difference of sex development-skeletal anomalies syndrome
• ORPHA:32505546,XX disorder of gonadal development
• ORPHA:24346,XX gonadal dysgenesis
• ORPHA:44404846,XX ovarian dysgenesis-short stature syndrome
• ORPHA:213846,XX ovotesticular difference of sex development
• ORPHA:39346,XX testicular difference of sex development
• ORPHA:24246,XY complete gonadal dysgenesis
• ORPHA:9808546,XY difference of sex development
• ORPHA:75246,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
• ORPHA:75346,XY difference of sex development due to 5-alpha-reductase 2 deficiency
• ORPHA:32551146,XY difference of sex development due to a cholesterol synthesis defect
• ORPHA:9808646,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
• ORPHA:9078346,XY difference of sex development due to a testosterone synthesis defect
• ORPHA:9078646,XY difference of sex development due to adrenal and testicular steroidogenesis defect
• ORPHA:32535746,XY difference of sex development due to impaired androgen production
• ORPHA:9079646,XY difference of sex development due to isolated 17,20-lyase deficiency
• ORPHA:44308746,XY difference of sex development due to testicular 17,20-desmolase deficiency
• ORPHA:9078746,XY difference of sex development due to testicular steroidogenesis defect
• ORPHA:32553746,XY difference of sex development induced by maternal exposure to endocrine disruptors
• ORPHA:32535146,XY difference of sex development of endocrine origin
• ORPHA:32563246,XY difference of sex development of gynecological interest
• ORPHA:16855846,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
• ORPHA:44309046,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
• ORPHA:32511846,XY disorder of gonadal development
• ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
• ORPHA:32534546,XY ovotesticular difference of sex development
• ORPHA:25151046,XY partial gonadal dysgenesis
• ORPHA:847,XYY syndrome
• ORPHA:9626348,XXXY syndrome
• ORPHA:1048,XXYY syndrome
• ORPHA:9932948,XYYY syndrome
• ORPHA:9626449,XXXXY syndrome
• ORPHA:26153449,XXXYY syndrome
• ORPHA:9933049,XYYYY syndrome
• ORPHA:2894944H leukodystrophy
• ORPHA:960724p16.3 microduplication syndrome
• ORPHA:2387504q21 microdeletion syndrome
• ORPHA:5024374q25 proximal deletion syndrome
• ORPHA:2170645-fluorouracil poisoning
• ORPHA:335725-oxoprolinase deficiency
• ORPHA:3298025p13 microduplication syndrome
• ORPHA:2283845q14.3 microdeletion syndrome
• ORPHA:2615845q22 microdeletion syndrome
• ORPHA:2284155q35 microduplication syndrome
• ORPHA:991356-phosphogluconate dehydrogenase deficiency
• ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiency
• ORPHA:2510466p22 microdeletion syndrome
• ORPHA:758576q terminal deletion syndrome
• ORPHA:1718296q16 microdeletion syndrome
• ORPHA:6644046q25.1 microdeletion syndrome
• ORPHA:2510566q25.2q25.3 microdeletion syndrome
• ORPHA:3140347p22.1 microduplication syndrome
• ORPHA:961217q11.23 microduplication syndrome
• ORPHA:2510617q31 microdeletion syndrome
• ORPHA:960928p inverted duplication/deletion syndrome
• ORPHA:2510668p11.2 deletion syndrome
• ORPHA:2510768p23.1 duplication syndrome
• ORPHA:2510718p23.1 microdeletion syndrome
• ORPHA:2283998q12 microduplication syndrome
• ORPHA:2841608q21.11 microdeletion syndrome
• ORPHA:1783038q22.1 microdeletion syndrome
• ORPHA:5084888q24.3 microdeletion syndrome
• ORPHA:3243139p13 microdeletion syndrome
• ORPHA:7144139p23p22.2 microdeletion syndrome
• ORPHA:5311519q21.13 microdeletion syndrome
• ORPHA:4019239q31.1q31.3 microdeletion syndrome
• ORPHA:4958189q33.3q34.11 microdeletion syndrome
• ORPHA:85445AA amyloidosis
• ORPHA:93560AApoAI amyloidosis
• ORPHA:238269AApoAII amyloidosis
• ORPHA:439232AApoAIV amyloidosis
• ORPHA:918ABCD syndrome
• ORPHA:324723ABeta amyloidosis, Arctic type
• ORPHA:100006ABeta amyloidosis, Dutch type
• ORPHA:324708ABeta amyloidosis, Iowa type
• ORPHA:324713ABeta amyloidosis, Italian type
• ORPHA:439246ABeta2M amyloidosis
• ORPHA:324718ABetaA21G amyloidosis
• ORPHA:324703ABetaL34V amyloidosis
• ORPHA:97345ABri amyloidosis
• ORPHA:99892ACTH-dependent Cushing syndrome
• ORPHA:100008ACys amyloidosis
• ORPHA:694356ADAR-related hereditary spastic paraplegia
• ORPHA:700160ADNP-related blepharophimosis-intellectual disability syndrome
• ORPHA:978ADULT syndrome
• ORPHA:97346ADan amyloidosis
• ORPHA:93562AFib amyloidosis
• ORPHA:714484AGR2-related infantile-onset inflammatory bowel disease
• ORPHA:85448AGel amyloidosis
• ORPHA:442582AH amyloidosis
• ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
• ORPHA:250977AICA-ribosiduria
• ORPHA:90081AIDS wasting syndrome
• ORPHA:79085AKT2-related familial partial lipodystrophy
• ORPHA:85443AL amyloidosis
• ORPHA:35664ALDH18A1-related De Barsy syndrome
• ORPHA:439224ALECT2 amyloidosis
• ORPHA:79327ALG1-CDG
• ORPHA:280071ALG11-CDG
• ORPHA:79324ALG12-CDG
• ORPHA:324422ALG13-CDG
• ORPHA:79326ALG2-CDG
• ORPHA:79321ALG3-CDG
• ORPHA:79320ALG6-CDG
• ORPHA:79325ALG8-CDG
• ORPHA:79328ALG9-CDG
• ORPHA:300903ALK-negative anaplastic large cell lymphoma
• ORPHA:300895ALK-positive anaplastic large cell lymphoma
• ORPHA:364043ALK-positive large B-cell lymphoma
• ORPHA:597887ALPI-related inflammatory bowel disease
• ORPHA:93561ALys amyloidosis
• ORPHA:157954ANE syndrome
• ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndrome
• ORPHA:1133AREDYLD syndrome
• ORPHA:423655ARX-related encephalopathy-brain malformation spectrum
• ORPHA:182079ARX-related epileptic encephalopathy
• ORPHA:514980ATP13A2-related parkinsonism
• ORPHA:692790ATP6AP1-CDG
• ORPHA:85451ATTRV122I amyloidosis
• ORPHA:85447ATTRV30M amyloidosis
• ORPHA:401911AXIN2-related polyposis
• ORPHA:915Aarskog-Scott syndrome
• ORPHA:916Aase-Smith syndrome type 1
• ORPHA:714702Abdominal arteriovenous malformation
• ORPHA:14Abetalipoproteinemia
• ORPHA:920Ablepharon macrostomia syndrome
• ORPHA:99089Abnormal number of coronary ostia
• ORPHA:99050Abnormal origin of right or left pulmonary artery from the aorta
• ORPHA:1138Abnormal origin of the pulmonary artery
• ORPHA:921Abruzzo-Erickson syndrome
• ORPHA:2310Absence deformity of leg-cataract syndrome
• ORPHA:1658Absence of fingerprints-congenital milia syndrome
• ORPHA:99112Absence of innominate vein
• ORPHA:980Absence of the pulmonary artery
• ORPHA:180142Absence of uterine body
• ORPHA:3016Absent radius-anogenital anomalies syndrome
• ORPHA:2951Absent thumb-short stature-immunodeficiency syndrome
• ORPHA:3328Absent tibia-polydactyly-arachnoid cyst syndrome
• ORPHA:945Acalvaria
• ORPHA:79468Acanthokeratolytic verrucous nevus
• ORPHA:90301Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
• ORPHA:926Acatalasemia
• ORPHA:99061Accessory mitral valve tissue
• ORPHA:674Accessory pancreas
• ORPHA:95462Accessory tricuspid valve tissue
• ORPHA:48818Aceruloplasminemia
• ORPHA:99736Acetazolamide-responsive myotonia
• ORPHA:99777Achalasia-alacrimia syndrome
• ORPHA:929Achalasia-microcephaly syndrome
• ORPHA:932Achondrogenesis
• ORPHA:93299Achondrogenesis type 1A
• ORPHA:93298Achondrogenesis type 1B
• ORPHA:93296Achondrogenesis type 2
• ORPHA:15Achondroplasia
• ORPHA:49382Achromatopsia
• ORPHA:618899Acid sphingomyelinase deficiency
• ORPHA:424046Acinar cell carcinoma of pancreas
• ORPHA:695131Acinar cystic transformation of the pancreas
• ORPHA:40366Acitretin/etretinate embryopathy
• ORPHA:454700Acquired Creutzfeldt-Jakob disease
• ORPHA:209013Acquired amyloid peripheral neuropathy
• ORPHA:90065Acquired aneurysmal subarachnoid hemorrhage
• ORPHA:91385Acquired angioedema
• ORPHA:100056Acquired angioedema type 1
• ORPHA:100055Acquired angioedema type 2
• ORPHA:528663Acquired angioedema with C1Inh deficiency
• ORPHA:95626Acquired arginine vasopressin deficiency
• ORPHA:247242Acquired ataxia
• ORPHA:101963Acquired chronic primary adrenal insufficiency
• ORPHA:228285Acquired cutis laxa
• ORPHA:404514Acquired cystic disease-associated renal cell carcinoma
• ORPHA:228218Acquired dermis elastic tissue disorder
• ORPHA:228221Acquired dermis elastic tissue disorder with decreased elastic tissue
• ORPHA:228224Acquired dermis elastic tissue disorder with increased elastic tissue
• ORPHA:675597Acquired elastotic haemangioma
• ORPHA:599490Acquired factor V deficiency
• ORPHA:599495Acquired factor VII deficiency
• ORPHA:599501Acquired factor X deficiency
• ORPHA:599507Acquired factor XI deficiency
• ORPHA:599513Acquired factor XIII deficiency
• ORPHA:79086Acquired generalized lipodystrophy
• ORPHA:158057Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
• ORPHA:599480Acquired hemophilia A
• ORPHA:599485Acquired hemophilia B
• ORPHA:576360Acquired human prion disease
• ORPHA:2221Acquired hypertrichosis lanuginosa
• ORPHA:689401Acquired hypothalamic obesity
• ORPHA:454Acquired ichthyosis
• ORPHA:75564Acquired idiopathic sideroblastic anemia
• ORPHA:310050Acquired immunodeficiency