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

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)