266 rare diseases available
Find information about all the rare diseases detectable within accelRare /medvir
A
Acanthamoeba keratitis(orphacode: 67043)
Hartmannella keratitis, Vahlkampfiidae keratitis
Achromatopsia(orphacode: 49382)
Pingelap blindness, Rod monochromacy, Achromacy, ACHM
Acquired aneurysmal subarachnoid hemorrhage(orphacode: 90065)
Meningeal hemorrhage, SAH
Acquired generalized lipodystrophy(orphacode: 79086)
Lawrence-Seip syndrome, Acquired lipoatrophic diabetes, LGA
Acquired partial lipodystrophy(orphacode: 79087)
Barraquer-Simons syndrome, Progressive cephalothoracic lipodystrophy, LPA
Acromegaly(orphacode: 963)
hepato-lenticular degeneration, ceruleoplasmins, serum copper
Acute adrenal insufficiency(orphacode: 95409)
Acute adrenocortical insufficiency, corticotropic insufficiency
Adenosine monophosphate deaminase deficiency(orphacode: 45)
Mc Ardle disease, AMP deaminase deficiency, Myoadenylate deaminase deficiency, Glycogenosis type 5
Adult acute respiratory distress syndrome(orphacode: 70578)
Adult hyaline membrane disease, ARDS
Adult neuronal ceroid lipofuscinosis(orphacode: 79262)
Kufs disease, adult CLN, adult NCL, ANCL
AGel amyloidosis(orphacode: 85448)
Finnish type familial amyloidosis, Finnish amyloidosis, Gelsolin amyloidosis, Familial amyloid polyneuropathy type 4
Aicardi-Goutières syndrome(orphacode: 51)
Familial encephalopathy with intracranial calcifications and chronic CSF lymphocytosis, Basal ganglia encephalopathy-calcification syndrome
AL amyloidosis(orphacode: 85443)
Primary amyloidosis, Light chain amyloidosis
Albinism-deafness syndrome(orphacode: 998)
Alcaptonury(orphacode: 56)
Homogentisicase deficiency, Homogentisic acid oxidase deficiency, Hereditary ochronosis
Alexander disease(orphacode: 58)
AxD
Allan Herndon-Dudley syndrome(orphacode: 59)
Monocarboxylate transporter 8 deficiency, X-linked intellectual disability syndrome, MCT8 deficiency
Alpha mannosidosis(orphacode: 61)
Lysosomal alpha-D-mannosidase deficiency
Alpha-1-antitrypsin deficiency(orphacode: 60)
Alpha-1 protease inhibitor deficiency
Alport syndrome(orphacode: 63)
Nephropathy-deafness syndrome
Alström syndrome(orphacode: 64)
Amyotrophic lateral sclerosis(orphacode: 803)
Charcot's disease, Lou Gherig's disease, ALS
Angelman syndrome(orphacode: 72)
Hilarious puppet syndrome
Anti-glomerular basement membrane disease(orphacode: 375)
Goodpasture's syndrome, anti-GBM mediated glomerulonephritis, anti-GBM antibody disease
Argininémia(orphacode: 90)
Arginase deficiency, Hyperargininemia
Argininosuccinic aciduria(orphacode: 23)
Arginosuccinic acid synthetase deficiency, Argininosuccinase deficiency, ASL deficiency, ASA
Aspergillosis(orphacode: 1163)
aspergilloma, aspergillus fumigatus
Ataxia-telangiectasia(orphacode: 100)
Louis-Bar syndrome, ATM, Ataxia Telangiectasia Mutated
ATTRV122I amyloidosis(orphacode: 85451)
Transthyretin amyloid heart disease, TTR-related amyloid heart disease
ATTRV30M amyloidosis(orphacode: 85447)
TTR amyloid neuropathy, Transthyretin amyloid neuropathy, Familial amyloid polyneuropathy, Transthyretin amyloid polyneuropathy
Atypical hemolytic uremic syndrome(orphacode: 2134)
Atypical HUS, aHUS
Autoimmune hemolytic anemia(orphacode: 98375)
AHAI, AIHA
Autoimmune polyendocrinopathy type 2(orphacode: 3143)
Schmidt syndrome, Autoimmune thyroid syndrome, Autoimmune polyglandular syndrome type 2, APS2
Autosomal dominant polycystic kidney disease(orphacode: 730)
ADPKD, PKD, PKRAD
Autosomal erythropoietic protoporphyria(orphacode: 79278)
EPP, PPE
B
Bardet-Biedl syndrome(orphacode: 110)
BBS
Becker muscular dystrophy(orphacode: 98895)
Becker's dystrophinopathy, DMB
Behavioral variant of frontotemporal dementia(orphacode: 275864)
vt-DFT
Beta-thalassemia(orphacode: 848)
Thalassemia beta
Borjeson-Forssman-Lehmann syndrome(orphacode: 127)
Intellectual disability-epilepsy-endocrine anomaly syndrome, BFLS
Bronchopulmonary dysplasia(orphacode: 70589)
Buerger disease(orphacode: 36258)
Thromboangiitis obliterans
C
C3 glomerulopathy(orphacode: 329918)
Non-immunoglobulin-mediated GNMP, Non-immunoglobulin-mediated membranoproliferative glomerulonephritis, Non-Ig-mediated MPGN
CADASIL(orphacode: 136)
Hereditary multiple cerebral infarct-dementia syndrome, Autosomal dominant cerebral arteriopathy-subcortical infarct-leukoencephalopathy
Calciphylaxis(orphacode: 280062)
Canavan disease(orphacode: 141)
ACY2 deficiency, Aminoacylase 2 deficiency, Aspartoacylase deficiency, Spongy degeneration of the brain, MC
Carbamyl-phosphate synthetase 1 deficiency(orphacode: 147)
CPS1, CPS1D deficiency
Carnitine-acylcarnitine translocase deficiency(orphacode: 159)
CACT deficiency
Castelman disease(orphacode: 160)
Angiofollicular lymph node hyperplasia, Angiofollicular lymphoid hyperplasia, Castleman pseudotumor
CDKL5-deficiency disorder(orphacode: 505652)
CDD, CDKL5 syndrome, CDKL5 disorder
Central retinal vein occlusion(orphacode: 411527)
CRVO, OVCR
Cerebrotendinous xanthomatosis(orphacode: 909)
CTX
Charcot-Marie-Tooth disease(orphacode: 166)
Charcot-Marie Thiott disease
CHARGE syndrome(orphacode: 138)
Hall-Hittner syndrome
Christianson syndrome(orphacode: 85278)
X-linked Angelman-like syndrome
Chromomycosis(orphacode: 182)
Chromoblastomycosis
Chronic inflammatory demyelinating polyneuropathy(orphacode: 2932)
PIDC
Chronic thromboembolic pulmonary hypertension(orphacode: 70591)
HTPC, HPTC
Churg-Strauss Syndrome(orphacode: 183)
CINCA syndrome(orphacode: 1451)
Prieur-Griscelli syndrome, Multisystemic inflammatory disease of children, Chronic infantile cutaneous and articular neurological syndrome, Cryopyrinopathy form CINCA
Citrullinemia type I(orphacode: 247525)
Argininosuccinic acid synthase deficiency, Argininosuccinate synthase deficiency, ASS deficiency, CTLN1
Classic homocystinuria(orphacode: 394)
Cystathionine beta-synthase deficiency, Homocystinuria due to cystathionine beta-synthase deficiency
Classical Ehlers-Danlos syndrome(orphacode: 287)
EDS classic, SED classic
Coccidioidomycosis(orphacode: 228123)
California disease, California or San Joaquin Valley fever, Desert fever, Desert rheumatism
Cogan syndrome(orphacode: 1467)
Cohen syndrome(orphacode: 193)
Cold agglutinin disease(orphacode: 56425)
CAD, CAS, Cold agglutinin syndrome
Combined immune deficiency by FOXN1 deficiency(orphacode: 169095)
Amyloid cystic thymic dysgenesis, Severe combined immunodeficiency, Severe T immunodeficiency syndrome-congenital alopecia-nail dystrophy, SCID due to FOXN1 deficiency
Cone rod dystrophy(orphacode: 1872)
Cone-rod dystrophy, Predominantly cone-rod dystrophy
Congenital adrenal hyperplasia(orphacode: 418)
CAH, HCS
Congenital bile acid synthesis defect type 1(orphacode: 79301)
DSAB1, 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
Congenital bile acid synthesis defect type 4(orphacode: 79095)
DSAB4, 2-Methylacyl-CoA racemase deficiency, AMACR deficiency, Alpha-methylacyl-CoA racemase deficiency
Congenital erythropoietic porphyria(orphacode: 79277)
Günther's disease, CEP
Congenital factor VII deficiency(orphacode: 327)
Constitutional proconvertin deficiency, Hypoproconvertinemia
Congenital factor X deficiency(orphacode: 328)
Congenital Stuart factor deficiency
Congenital factor XIII deficiency(orphacode: 331)
Congenital generalized lipodystrophy(orphacode: 528)
Lipoatrophic diabetes, Berardinelli-Seip syndrome, LCBS, LGC
Congenital hypothyroidism(orphacode: 442)
Congenital sucrase-isomaltase deficiency(orphacode: 35122)
Disaccharide intolerance, Congenital sucrose intolerance, Congenital carbohydrate intolerance, CSID, DSIC
Corticobasal syndrome(orphacode: 454887)
SCS, CBS
Cushing syndrome(orphacode: 553)
Hyperadrenocorticism, Hypercortisolism
Cyclic neutropenia(orphacode: 2686)
Human neutropenia, Periodic neutropenia, Cyclic hematopoiesis, nCN, CyN
Cystic fibrosis(orphacode: 586)
Cystic fibrosis, CF
Cystinosis(orphacode: 213)
Cystine transporter deficiency
Cystinuria(orphacode: 214)
Cystinuria-lysinuria syndrome
D
Dentinogenesis imperfecta(orphacode: 49042)
Opalescent teeth without osteogenesis imperfecta, DGI without OI
Dermatitis herpetiformis(orphacode: 1656)
Duhring-Brocq disease
Dermatomyositis(orphacode: 221)
Adult dermatomyositis, adult DM
Dravet syndrome(orphacode: 33069)
Severe myoclonic epilepsy in infants, EMSN
E
Enthesitis-related juvenile idiopathic arthritis(orphacode: 85438)
JIA associated with enthesopathies
Epidermolysis bullosa acquisita(orphacode: 46487)
Essential thrombocythemia(orphacode: 3318)
Essential thrombocytosis
Evans syndrome(orphacode: 1959)
Autoimmune hemolytic anemia and thrombocytopenia, Autoimmune pancytopenia
F
Fabry's disease(orphacode: 324)
Anderson-Fabry disease, Hereditary Fabry sphingolipidosis, Alpha-galactosidase A deficiency, Hereditary lipoid thesaurismosis, Diffuse angiokeratosis
Facioscapulohumeral dystrophy(orphacode: 269)
Landouzy-Dejerine Dystrophy, Landouzy-Dejerine Myopathy, Facioscapulohumeral Myopathy, FSH Dystrophy, FSHD
Familial cerebral cavernous malformation(orphacode: 221061)
Familial cerebral cavernous angioma, Hereditary cerebral cavernous angioma, Hereditary cerebral cavernoma
Familial cerebral saccular aneurysm(orphacode: 231160)
Saccular intracranial aneurysm, familial form, Familial Berry Aneurysm
Familial chylomicronemia syndrome(orphacode: 444490)
LPL protein lipase deficiency
Familial cold urticaria(orphacode: 47045)
Familial auto-inflammatory cold syndrome, FCU, SFAF, FCAS
Fetal cytomegalovirus syndrome(orphacode: 294)
Antenatal CMV infection, Antenatal cytomegalovirus infection
Fibrodysplasia ossificans progressiva(orphacode: 337)
Stone man disease, Progressive myositis ossificans, FOP
Fibrous dysplasia of bone(orphacode: 249)
DFO
Fragile X syndrome(orphacode: 908)
Martin-Bell syndrome, FRAXA syndrome, FXS, FraX
Friedreich ataxia(orphacode: 95)
AF, FRDA
Fusariosis(orphacode: 228119)
G
Gaucher disease type 1(orphacode: 77259)
Non-cerebral juvenile Gaucher disease, Acid beta-glucosidase deficiency, Glucocerebrosidase deficiency
Gaucher disease type 3(orphacode: 77261)
Juvenile and adult cerebral Gaucher disease, Chronic or subacute neuronopathic Gaucher disease
Glanzmann thrombasthenia(orphacode: 849)
Glucose transporter type 1 deficiency syndrome(orphacode: 71277)
De Vivo disease, GLUT1 deficiency encephalopathy, GLUT1 deficiency syndrome
Glycogenosis due to debranching enzyme deficiency(orphacode: 366)
Cori-Forbes disease, Glycogen storage disease due to glycogen debranching enzyme deficiency, Borderline dextrinosis, Amylo-1, 6-glucosidase deficiency, GSD by debranching enzyme deficiency, GSD 3
Glycogenosis from muscle phosphorylase deficiency(orphacode: 368)
McArdle disease, Glycogen storage disease due to muscle glycogen phosphorylase deficiency, Myophosphorylase deficiency, GSD by muscle glycogen phosphorylase deficiency, GSD5
GM1 gangliosidosis(orphacode: 354)
Landing's disease, GLB1 deficiency, beta-galactosidase-1 deficiency
Growth delay due to growth F deficiency(orphacode: 73272)
Primary insulin-like growth factor deficiency, Growth retardation-deafness-intellectual disability syndrome, IGF-1 deficiency
H
Hemophilia A(orphacode: 98878)
Congenital factor VIII deficiency
Hemophilia B(orphacode: 98879)
Christmas disease, congenital factor IX deficiency
Hepatic veno-occlusive disease(orphacode: 890)
Hepatic sinusoidal obstruction syndrome, SOS
Hereditary angioedema(orphacode: 91378)
Hereditary bradykin angioedema, Hereditary non-histamine angioedema, Familial/hereditary angioneurotic edema, OANH
Hereditary hemorrhagic telangiectasia(orphacode: 774)
Rendu Osler Weber disease
Hereditary thrombophilia due to deficiency(orphacode: 82)
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Homozygous familial hypercholesterolemia(orphacode: 391665)
HoFH
Hughes-Stovin syndrome(orphacode: 228116)
Huntington disease(orphacode: 399)
Huntington's disease
Hutchinson-Gilford progeria syndrome(orphacode: 740)
Hutchinson-Gilford syndrome, HGPS
Hyperammonemia due to N-acetylglutamate synthase(orphacode: 927)
NAGS deficiency
Hypercholesterolemia due to deficiency(orphacode: 209902)
Hyperimmunoglobulinemia D with periodic fever(orphacode: 343)
Partial mevalonate kinase deficiency, Relapsing fever with hyper-IgD, Relapsing fever with hyperimmunoglobulinemia D, HIDS, Hyper-IgD syndrome
Hyperornithinemia-hyperammonemia syndrome(orphacode: 415)
Ornithine translocase deficiency, HHH syndrome, homocitrullinuria, ORNT1 deficiency
Hyperthyroidism due to mutations(orphacode: 424)
Familial non-immune hyperthyroidism, TSH resistance
Hypohidrotic ectodermal dysplasia(orphacode: 238468)
Christ-Siemens-Touraine syndrome (X-linked form), Anhidrotic ectodermal dysplasia, DEA
Hypophosphatasia(orphacode: 436)
Rathbun's disease, Phosphoethanolaminuria, HPP
Hypoplasminogenemia(orphacode: 722)
Plasminogen deficiency type 1
I
Idiopathic hypersomnia(orphacode: 33208)
Idiopathic excessive sleepiness
Idiopathic pulmonary fibrosis(orphacode: 2032)
Idiopathic diffuse interstitial fibrosis, IPF
Immune thrombocytopenic purpura(orphacode: 3002)
Immune thrombocytopenic purpura, ITP, Immune thrombocytopenia
Inclusion body myositis(orphacode: 611)
IBM
Incontinentia pigmenti(orphacode: 464)
Bloch-Siemens syndrome, Bloch-Sulzberger syndrome, IP
Infant acute respiratory distress syndrome(orphacode: 70587)
Respiratory distress in newborns, Hyaline membrane disease in newborns, Infantile respiratory distress syndrome, ARDS in infants
Infantile neuroaxonal dystrophy(orphacode: 35069)
Seitelberger disease, DNAI, Phospholipase A2-associated neurodegeneration, Infantile neuroaxonal dystonia
Intermediate uveitis(orphacode: 279914)
Interstitial cystitis(orphacode: 37202)
Painful bladder syndrome
J
Japanese encephalitis(orphacode: 79139)
Joubert syndrome(orphacode: 475)
Joubert Boltshauser syndrome
Juvenile dermatomyositis(orphacode: 93672)
Juvenile DM
Juvenile myoclonic epilepsy(orphacode: 307)
JME, EMJ
Juvenile neuronal ceroid lipofuscinosis(orphacode: 79264)
Batten disease, Spielmeyer-Vogt disease, juvenile CLN, juvenile NCL, JNCL
Juvenile temporal arteritis(orphacode: 26137)
Eosinophilic granulomatous temporal arteritis without giant cells
K
Kabuki syndrome(orphacode: 2322)
Niikawa-Kuroki syndrome
Kennedy disease(orphacode: 481)
X-linked spinal and bulbar muscular atrophy, X-linked BSMA, SBMA, SMAX1, ASX1
KGB Syndrome(orphacode: 2332)
Short stature syndrome-facial and skeletal anomalies-intellectual disability-macrodontia
L
Lambert-Eaton myasthenic syndrome(orphacode: 43393)
Late infantile neuronal ceroid lipofuscinosis(orphacode: 168491)
Jansky-Bielschowsky disease, late infantile CLN, LINCL, late infantile NCL
Leber congenital amaurosis(orphacode: 65)
Early retinitis pigmentosa
Leber hereditary optic neuropathy(orphacode: 104)
Leber optic atrophy, LHON, NOHL
Lennox-Gastaut syndrome(orphacode: 2382)
Limbal stem cell deficiency(orphacode: 171673)
DCSL
Linear IgA dermatosis(orphacode: 46488)
DIGAL
Lymphangioleiomyomatosis(orphacode: 538)
LAM
Lysinuric protein intolerance(orphacode: 470)
Hyperdibasic aminoaciduria, LPI, IPDL
Lysosomal acid lipase deficiency(orphacode: 275761)
LAL deficiency
M
Maple syrup urine disease(orphacode: 511)
Maple-syrup urine disease, Branched-chain alpha-keto acid dehydrogenase complex deficiency, Branched-chain ketoaciduria, BCKD deficiency BCKDH deficiency, Leukinosis, MSUD
Marfan syndrome(orphacode: 558)
MFS
Mastocytosis(orphacode: 98292)
Indolent systemic mastocytosis, Systemic mastocytosis smouldering type, Aggressive systemic mastocytosis, Systemic mastocytosis associated with non-mast cell haemopathy, Mast cell leukaemia
Medium chain acyl-CoA dehydrogenase deficiency(orphacode: 42)
Medium chain fatty acid acyl-coenzymeA dehydrogenase deficiency, Carnitine deficiency by acyl-CoA, medium chain fatty acid dehydrogenase deficiency, MCADD, MCAD deficiency
Metachromatic leukodystrophy(orphacode: 512)
Arylsulfatase A deficiency, MLD
Microscopic polyangiitis(orphacode: 727)
Micropolyangiitis, Microscopic polyarteritis, MPA, PAM
Microvillus inclusion disease(orphacode: 2290)
Congenital microvillous atrophy, Congenital chronic diarrhea with familial enterocyte microvillous defects, MVID
Mitochondrial encephalomyopathy, stroke episodes(orphacode: 550)
Lactic acidosis, pseudo cerebrovascular episodes, lactic acidosis, pseudo cerebrovascular episodes Mitochondrial myopathy, encephalopathy
Mitochondrial trifunctional protein deficiency(orphacode: 746)
Mitochondrial trifunctional protein deficiency, TFPD, DPTFM
Moyamoya disease(orphacode: 2573)
MMD
Muckle-Wells syndrome(orphacode: 575)
Neutrophilic urticaria, Cryopyrinopathy, CAPS
Mucopolysaccharidosis type 1(orphacode: 579)
Hurler disease, Scheie disease, Alpha-L-iduronidase deficiency, MPS1
Mucopolysaccharidosis type 2(orphacode: 580)
Hunter disease, Iduronate 2-sulfatase deficiency, MPS 2
Mucopolysaccharidosis type 3(orphacode: 581)
Sanfilippo disease, MPS3
Mucopolysaccharidosis type 4(orphacode: 582)
Morquio disease, MPS4
Mucopolysaccharidosis type 6(orphacode: 583)
Maroteaux-Lamy disease, ARBS deficiency, ASB deficiency, Arylsulfatase B deficiency, MPS6
Mucopolysaccharidosis type 7(orphacode: 584)
Sly disease, beta-glucuronidase deficiency, MPS7
Multifocal motor neuropathy(orphacode: 641)
MMNCB, NMMBC
Multiple osteochondromas(orphacode: 321)
Bessel-Hagen disease
Multiple system atrophy(orphacode: 102)
Multisystem atrophy, AMS, MSA
N
Nail-patella syndrome(orphacode: 2614)
Turner-Kieser syndrome, Nail-patella syndrome, Onycho-osteodysplasia, Hereditary osteo-onychodysplasia
Narcolepsy type 1(orphacode: 2073)
Gélineau's disease, Narcolepsy-cataplexy
Narcolepsy type 2(orphacode: 83465)
Narcolepsy without cataplexy
Netherton syndrome(orphacode: 634)
Comèl-Netherton syndrome, Bamboo hair syndrome, NS
Neurodegeneration with brain iron accumulation(orphacode: 385)
NBIA
Neuromyelitis optica spectrum disorder(orphacode: 71211)
Devic's disease, Neuromyelitis optica spectrum disorder
Neurotrophic keratopathy(orphacode: 137596)
Niemann-Pick disease type B(orphacode: 77293)
Chronic visceral ASMD
Niemann-Pick disease type C(orphacode: 646)
Non-24-hour-sleep-wake syndrome(orphacode: 73267)
Different 24-hour rhythm syndrome, Hypernyctemal rhythm, Hypernyctemal syndrome, N24SWD
Noonan syndrome(orphacode: 648)
Normosmic congenital hypogonadotropic hypogonadism(orphacode: 432)
Congenital hypogonadotropic hypogonadism, nIHH
O
Obesity due to leptin receptor gene deficiency(orphacode: 179494)
Oculopharyngeal muscular dystrophy(orphacode: 270)
DMOP, OPMD
Olmsted syndrome(orphacode: 659)
Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques, Palmoplantar and periorificial keratoderma
Ornithine transcarbamylase deficiency(orphacode: 664)
Ornithine carbamoyltransferase deficiency, OTC deficiency
Orofaciodigital syndrome type 1(orphacode: 2750)
Papillon-Léage-Psaume syndrome, OFD1, OFDS1
Osteogenesis imperfecta(orphacode: 666)
Lobstein's disease, Glass bone disease, OI
P
Pantothenate kinase-associated neurodegeneration(orphacode: 157850)
Hallervorden-Spatz syndrome, Neurodegeneration with cerebral iron overload type 1, PKAN, NBIA1
Paroxysmal nocturnal hemoglobinuria(orphacode: 447)
Marchiafava-Micheli disease, HPN
Partington syndrome(orphacode: 94083)
Partington-Mulley syndrome, X-linked intellectual disability syndrome in claw-dysarthria
Pemphigus vulgaris(orphacode: 704)
Pendred syndrome(orphacode: 705)
Goiter deafness syndrome
Phelan Mc Dermid syndrome(orphacode: 48652)
Deletion 22q13.3, monosomy 22q13.3
Pitt-Hopkins syndrome(orphacode: 2896)
PTHS
Polyarteritis nodosa(orphacode: 767)
Küssmaul-Maier disease, Panarteritis nodosa, Polyarteritis nodosa, PAN
Pompe disease - Glycogenosis type 2(orphacode: 365)
Pompe disease, Glycogen storage disease due to acid maltase deficiency, Alpha-1, GSD2 deficiency
Postinfectious vasculitis(orphacode: 48435)
Prader Willi syndrome(orphacode: 739)
Labhart syndrome
Primary angiitis of the central nervous system(orphacode: 140989)
Isolated central nervous system vasculitis, Primary central nervous system vasculitis, PACNS, PCNSV
Primary bilary cholangitis(orphacode: 186)
Hanot syndrome, Primary biliary cirrhosis, CHOBP
Primary ciliary dyskinesia(orphacode: 244)
DCP
Primary hyperoxaluria(orphacode: 416)
HP
Primary myelofibrosis(orphacode: 824)
Idiopathic myelofibrosis, Myelosclerosis with myeloid metaplasia, Osteomyelofibrosis
Primary sclerosing cholangitis(orphacode: 171)
PSC
Progressive familial intrahepatic cholestasis(orphacode: 172)
Byler disease, FIC1 deficiency, BSEP deficiency, MDR3 deficiency, CHIFP
Progressive multifocal leucoencephalopathy(orphacode: 217260)
Progressive multifocal leukoencephalitis, PML
Progressive myoclonic epilepsy type 2(orphacode: 501)
EPM2
Progressive supranuclear palsy(orphacode: 683)
PSP syndrome
Propionic acidemia(orphacode: 35)
Propionic aciduria, Propionyl-CoA carboxylase deficiency, Ketotic glycemia
Proteus syndrome(orphacode: 744)
Proteus syndrome, Partial gigantism-hemihypertrophy-macrocephaly syndrome
Proximal spinal muscular atrophy(orphacode: 70)
ASA, SMA
Pseudomyxoma peritonei(orphacode: 26790)
Psoriasis-related juvenile idiopathic arthritis(orphacode: 85436)
JIA associated with psoriasis, Juvenile psoriatic arthritis
Pyruvate kinase deficiency(orphacode: 766)
Erythrocyte pyruvate kinase deficiency
Q
R
R F negative juvenile idiopathic arthritis(orphacode: 85408)
Polyarticular JIA without rheumatoid factor, Rheumatoid factor-negative juvenile arthritis, Rheumatoid factor-negative juvenile idiopathic arthritis
R F positive juvenile idiopathic arthritis(orphacode: 85435)
Polyarticular JIA with rheumatoid factor, Juvenile arthritis with rheumatoid factor, Juvenile arthritis rheumatoid factor positive
Renpenning syndrome(orphacode: 3242)
X-linked intellectual disability through mutation of PQBP1
Retinitis pigmentosa(orphacode: 791)
Retinopathy of prematurity(orphacode: 90050)
Retrolental fibroplasia, RDP, ROP
Rubinstein-Taybi syndrome(orphacode: 783)
Thumb and big toe syndrome, SRT
S
Sandhoff disease(orphacode: 796)
Hexosaminidase A and B deficiency, GM2 gangliosidosis
Secondary non-traumatic avascular necrosis(orphacode: 399180)
Non-traumatic secondary AVN
Severe hereditary thrombophilia due to deficiency(orphacode: 745)
Autosomal recessive thrombophilia due to PC deficiency, Autosomal recessive thrombophilia due to congenital protein C deficiency
Sickle cell anemia(orphacode: 232)
sickle cell anemia
Stargardt disease(orphacode: 827)
Flavimacular macular dystrophy, Fundus flavimaculatus, Stargardt 1
Stevens-Johnson syndrome(orphacode: 36426)
Stevens-Johnson type dermatostomatitis
Systemic sclerosis(orphacode: 90291)
Systemic-onset juvenile idiopathic arthritis(orphacode: 85414)
Still's disease in children, systemic JIA
T
Takayasu arteritis(orphacode: 3287)
Tay-Sachs disease(orphacode: 845)
Hexosaminidase A deficiency, GM2 Gangliosidosis variants B, B1
Thrombotic thrombocytopenic purpura(orphacode: 54057)
Moschcowitz disease, PTT
Toxic epidermal necrolysis(orphacode: 537)
Lyell syndrome, NET
Trisomy Xq28(orphacode: 1762)
MECP2 duplication syndrome, X-linked intellectual disability syndrome type Lubs
Tuberous sclerosis complex(orphacode: 805)
Bourneville disease, STB
Tumor necrosis factor periodic syndrome(orphacode: 32960)
Familial Hibernian fever, Autosomal dominant periodic fever, TNF receptor 1-associated periodic syndrome, TRAPS
Turner syndrome(orphacode: 881)
Tyrosinemia type 1(orphacode: 882)
FAH deficiency, Fumarylacetoacetase deficiency, Fumarylacetoacetate hydrolase deficiency, Hepato-renal tyrosinosis, Hepato-renal tyrosinemia, HT1
U
Usher syndrome(orphacode: 886)
Retinitis pigmentosa-deafness syndrome, USH
V
Vaquez' disease(orphacode: 729)
Acquired primary erythrocytosis, Osler-Vaquez disease, Polycythaemia rubra vera, Polycythemia vera, Essential polyglobulia
Vascular Ehlers-Danlos syndrome(orphacode: 286)
Ehlers-Danlos syndrome type 4, Sack-Barabas syndrome, EDS4, arterial-ecchymotic SED, SED type 4
Vernal keratoconjunctivitis(orphacode: 70476)
KCV
Von Hippel-Lindau disease(orphacode: 892)
von Hippel-Lindau cerebelloretinal angiomatosis, familial retinocerebellar angiomatosis, VH
Von Willebrand disease(orphacode: 903)
Constitutional von Willebrand Disease, Hereditary von Willebrand Disease
W
Wegener's granulomatis(orphacode: 900)
Granulomatosis with polyangiitis, GPA
West syndrome(orphacode: 3451)
Infantile spasm syndrome
WHIM syndrome(orphacode: 51636)
Wart syndrome-hypogammaglobulinemia-infections-myelokathexis, Wart syndrome-infections-leukopenia-myelokathexis, WHIM
Williams syndrome(orphacode: 904)
Deletion 7q11.23, Monosomy 7q11.23
Wilson disease(orphacode: 905)
Hepato-lenticular degeneration, Ceruleoplasmins, Cupremia
Wolfram syndrome(orphacode: 3463)
DIDMOAD syndrome
X
X-linked creatinine transporter deficiency(orphacode: 52503)
SLC6A8 deficiency
X-linked hypophosphatemia(orphacode: 89936)
XLH
Xeroderma pigmentosum(orphacode: 910)
Moon children's disease
Y
Z
Zygomycosis(orphacode: 73263)