266 rare diseases available

Hartmannella keratitis, Vahlkampfiidae keratitis

Pingelap blindness, Rod monochromacy, Achromacy, ACHM

Meningeal hemorrhage, SAH

Lawrence-Seip syndrome, Acquired lipoatrophic diabetes, LGA

Barraquer-Simons syndrome, Progressive cephalothoracic lipodystrophy, LPA

hepato-lenticular degeneration, ceruleoplasmins, serum copper

Acute adrenocortical insufficiency, corticotropic insufficiency

Mc Ardle disease, AMP deaminase deficiency, Myoadenylate deaminase deficiency, Glycogenosis type 5

Adult hyaline membrane disease, ARDS

Kufs disease, adult CLN, adult NCL, ANCL

Finnish type familial amyloidosis, Finnish amyloidosis, Gelsolin amyloidosis, Familial amyloid polyneuropathy type 4

Familial encephalopathy with intracranial calcifications and chronic CSF lymphocytosis, Basal ganglia encephalopathy-calcification syndrome

Primary amyloidosis, Light chain amyloidosis

Homogentisicase deficiency, Homogentisic acid oxidase deficiency, Hereditary ochronosis

AxD

Monocarboxylate transporter 8 deficiency, X-linked intellectual disability syndrome, MCT8 deficiency

Lysosomal alpha-D-mannosidase deficiency

Alpha-1 protease inhibitor deficiency

Nephropathy-deafness syndrome

Charcot's disease, Lou Gherig's disease

Hilarious puppet syndrome

Goodpasture's syndrome, anti-GBM mediated glomerulonephritis, anti-GBM antibody disease

Arginase deficiency, Hyperargininemia

Arginosuccinic acid synthetase deficiency, Argininosuccinase deficiency, ASL deficiency, ASA

aspergilloma, aspergillus fumigatus

Louis-Bar syndrome, ATM, Ataxia Telangiectasia Mutated

Transthyretin amyloid heart disease, TTR-related amyloid heart disease

TTR amyloid neuropathy, Transthyretin amyloid neuropathy, Familial amyloid polyneuropathy, Transthyretin amyloid polyneuropathy

Atypical HUS, aHUS

AHAI, AIHA

Schmidt syndrome, Autoimmune thyroid syndrome, Autoimmune polyglandular syndrome type 2, APS2

ADPKD, PKD, PKRAD

EPP, PPE

BBS

Becker's dystrophinopathy, DMB

vt-DFT

Thalassemia beta

Intellectual disability-epilepsy-endocrine anomaly syndrome, BFLS

Thromboangiitis obliterans

Non-immunoglobulin-mediated GNMP, Non-immunoglobulin-mediated membranoproliferative glomerulonephritis, Non-Ig-mediated MPGN

Hereditary multiple cerebral infarct-dementia syndrome, Autosomal dominant cerebral arteriopathy-subcortical infarct-leukoencephalopathy

ACY2 deficiency, Aminoacylase 2 deficiency, Aspartoacylase deficiency, Spongy degeneration of the brain, MC

CPS1, CPS1D deficiency

CACT deficiency

Angiofollicular lymph node hyperplasia, Angiofollicular lymphoid hyperplasia, Castleman pseudotumor

CDD, CDKL5 syndrome, CDKL5 disorder

CRVO, OVCR

CTX

Charcot-Marie Thiott disease

Hall-Hittner syndrome

X-linked Angelman-like syndrome

Chromoblastomycosis

PIDC

HTPC, HPTC

Prieur-Griscelli syndrome, Multisystemic inflammatory disease of children, Chronic infantile cutaneous and articular neurological syndrome, Cryopyrinopathy form CINCA

Argininosuccinic acid synthase deficiency, Argininosuccinate synthase deficiency, ASS deficiency, CTLN1

Cystathionine beta-synthase deficiency, Homocystinuria due to cystathionine beta-synthase deficiency

EDS classic, SED classic

California disease, California or San Joaquin Valley fever, Desert fever, Desert rheumatism

CAD, CAS, Cold agglutinin syndrome

Amyloid cystic thymic dysgenesis, Severe combined immunodeficiency, Severe T immunodeficiency syndrome-congenital alopecia-nail dystrophy, SCID due to FOXN1 deficiency

Cone-rod dystrophy, Predominantly cone-rod dystrophy

CAH, HCS

DSAB1, 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency

DSAB4, 2-Methylacyl-CoA racemase deficiency, AMACR deficiency, Alpha-methylacyl-CoA racemase deficiency

Günther's disease, CEP

Constitutional proconvertin deficiency, Hypoproconvertinemia

Congenital Stuart factor deficiency

Lipoatrophic diabetes, Berardinelli-Seip syndrome, LCBS, LGC

Disaccharide intolerance, Congenital sucrose intolerance, Congenital carbohydrate intolerance, CSID, DSIC

SCS, CBS

Hyperadrenocorticism, Hypercortisolism

Human neutropenia, Periodic neutropenia, Cyclic hematopoiesis, nCN, CyN

Cystic fibrosis, CF

Cystine transporter deficiency

Cystinuria-lysinuria syndrome

Opalescent teeth without osteogenesis imperfecta, DGI without OI

Duhring-Brocq disease

Adult dermatomyositis, adult DM

Severe myoclonic epilepsy in infants, EMSN

JIA associated with enthesopathies

Essential thrombocytosis

Autoimmune hemolytic anemia and thrombocytopenia, Autoimmune pancytopenia

Anderson-Fabry disease, Hereditary Fabry sphingolipidosis, Alpha-galactosidase A deficiency, Hereditary lipoid thesaurismosis, Diffuse angiokeratosis

Landouzy-Dejerine Dystrophy, Landouzy-Dejerine Myopathy, Facioscapulohumeral Myopathy, FSH Dystrophy, FSHD

Familial cerebral cavernous angioma, Hereditary cerebral cavernous angioma, Hereditary cerebral cavernoma

Saccular intracranial aneurysm, familial form, Familial Berry Aneurysm

LPL protein lipase deficiency

Familial auto-inflammatory cold syndrome, FCU, SFAF, FCAS

Antenatal CMV infection, Antenatal cytomegalovirus infection

Stone man disease, Progressive myositis ossificans, FOP

DFO

Martin-Bell syndrome, FRAXA syndrome, FXS, FraX

AF, FRDA

Non-cerebral juvenile Gaucher disease, Acid beta-glucosidase deficiency, Glucocerebrosidase deficiency

Juvenile and adult cerebral Gaucher disease, Chronic or subacute neuronopathic Gaucher disease

De Vivo disease, GLUT1 deficiency encephalopathy, GLUT1 deficiency syndrome

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

McArdle disease, Glycogen storage disease due to muscle glycogen phosphorylase deficiency, Myophosphorylase deficiency, GSD by muscle glycogen phosphorylase deficiency, GSD5

Landing's disease, GLB1 deficiency, beta-galactosidase-1 deficiency

Primary insulin-like growth factor deficiency, Growth retardation-deafness-intellectual disability syndrome, IGF-1 deficiency

Congenital factor VIII deficiency

Christmas disease, congenital factor IX deficiency

Hepatic sinusoidal obstruction syndrome, SOS

Hereditary bradykin angioedema, Hereditary non-histamine angioedema, Familial/hereditary angioneurotic edema, OANH

Rendu Osler Weber disease

Hereditary thrombophilia due to congenital antithrombin 3 deficiency

HoFH

Huntington's disease

Hutchinson-Gilford syndrome, HGPS

NAGS deficiency

Partial mevalonate kinase deficiency, Relapsing fever with hyper-IgD, Relapsing fever with hyperimmunoglobulinemia D, HIDS, Hyper-IgD syndrome

Ornithine translocase deficiency, HHH syndrome, homocitrullinuria, ORNT1 deficiency

Familial non-immune hyperthyroidism, TSH resistance

Christ-Siemens-Touraine syndrome (X-linked form), Anhidrotic ectodermal dysplasia, DEA

Rathbun's disease, Phosphoethanolaminuria, HPP

Plasminogen deficiency type 1

Idiopathic excessive sleepiness

Idiopathic diffuse interstitial fibrosis, IPF

Immune thrombocytopenic purpura, ITP, Immune thrombocytopenia

IBM

Bloch-Siemens syndrome, Bloch-Sulzberger syndrome, IP

Respiratory distress in newborns, Hyaline membrane disease in newborns, Infantile respiratory distress syndrome, ARDS in infants

Seitelberger disease, DNAI, Phospholipase A2-associated neurodegeneration, Infantile neuroaxonal dystonia

Painful bladder syndrome

Joubert Boltshauser syndrome

Juvenile DM

JME, EMJ

Batten disease, Spielmeyer-Vogt disease, juvenile CLN, juvenile NCL, JNCL

Eosinophilic granulomatous temporal arteritis without giant cells

Niikawa-Kuroki syndrome

X-linked spinal and bulbar muscular atrophy, X-linked BSMA, SBMA, SMAX1, ASX1

Short stature syndrome-facial and skeletal anomalies-intellectual disability-macrodontia

Jansky-Bielschowsky disease, late infantile CLN, LINCL, late infantile NCL

Early retinitis pigmentosa

Leber optic atrophy, LHON, NOHL

DCSL

DIGAL

LAM

Hyperdibasic aminoaciduria, LPI, IPDL

LAL deficiency

Maple-syrup urine disease, Branched-chain alpha-keto acid dehydrogenase complex deficiency, Branched-chain ketoaciduria, BCKD deficiency BCKDH deficiency, Leukinosis, MSUD

MFS

Indolent systemic mastocytosis, Systemic mastocytosis smouldering type, Aggressive systemic mastocytosis, Systemic mastocytosis associated with non-mast cell haemopathy, Mast cell leukaemia

Medium chain fatty acid acyl-coenzymeA dehydrogenase deficiency, Carnitine deficiency by acyl-CoA, medium chain fatty acid dehydrogenase deficiency, MCADD, MCAD deficiency

Arylsulfatase A deficiency, MLD

Micropolyangiitis, Microscopic polyarteritis, MPA, PAM

Congenital microvillous atrophy, Congenital chronic diarrhea with familial enterocyte microvillous defects, MVID

Lactic acidosis, pseudo cerebrovascular episodes, lactic acidosis, pseudo cerebrovascular episodes Mitochondrial myopathy, encephalopathy

Mitochondrial trifunctional protein deficiency, TFPD, DPTFM

MMD

Neutrophilic urticaria, Cryopyrinopathy, CAPS

Hurler disease, Scheie disease, Alpha-L-iduronidase deficiency, MPS1

Hunter disease, Iduronate 2-sulfatase deficiency, MPS 2

Sanfilippo disease, MPS3

Morquio disease, MPS4

Maroteaux-Lamy disease, ARBS deficiency, ASB deficiency, Arylsulfatase B deficiency, MPS6

Sly disease, beta-glucuronidase deficiency, MPS7

MMNCB, NMMBC

Bessel-Hagen disease

Multisystem atrophy, AMS, MSA

Turner-Kieser syndrome, Nail-patella syndrome, Onycho-osteodysplasia, Hereditary osteo-onychodysplasia

Gélineau's disease, Narcolepsy-cataplexy

Narcolepsy without cataplexy

Comèl-Netherton syndrome, Bamboo hair syndrome, NS

NBIA

Devic's disease, Neuromyelitis optica spectrum disorder

Chronic visceral ASMD

Different 24-hour rhythm syndrome, Hypernyctemal rhythm, Hypernyctemal syndrome, N24SWD

Congenital hypogonadotropic hypogonadism, nIHH

DMOP, OPMD

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques, Palmoplantar and periorificial keratoderma

Ornithine carbamoyltransferase deficiency, OTC deficiency

Papillon-Léage-Psaume syndrome, OFD1, OFDS1

Lobstein's disease, Glass bone disease, OI

Hallervorden-Spatz syndrome, Neurodegeneration with cerebral iron overload type 1, PKAN, NBIA1

Marchiafava-Micheli disease, HPN

Partington-Mulley syndrome, X-linked intellectual disability syndrome in claw-dysarthria

Goiter deafness syndrome

Deletion 22q13.3, monosomy 22q13.3

PTHS

Küssmaul-Maier disease, Panarteritis nodosa, Polyarteritis nodosa, PAN

Pompe disease, Glycogen storage disease due to acid maltase deficiency, Alpha-1, GSD2 deficiency

Labhart syndrome

Isolated central nervous system vasculitis, Primary central nervous system vasculitis, PACNS, PCNSV

Hanot syndrome, Primary biliary cirrhosis, CHOBP

DCP

HP

Idiopathic myelofibrosis, Myelosclerosis with myeloid metaplasia, Osteomyelofibrosis

PSC

Byler disease, FIC1 deficiency, BSEP deficiency, MDR3 deficiency, CHIFP

Progressive multifocal leukoencephalitis, PML

EPM2

PSP syndrome

Propionic aciduria, Propionyl-CoA carboxylase deficiency, Ketotic glycemia

Proteus syndrome, Partial gigantism-hemihypertrophy-macrocephaly syndrome

ASA, SMA

JIA associated with psoriasis, Juvenile psoriatic arthritis

Erythrocyte pyruvate kinase deficiency

Polyarticular JIA without rheumatoid factor, Rheumatoid factor-negative juvenile arthritis, Rheumatoid factor-negative juvenile idiopathic arthritis

Polyarticular JIA with rheumatoid factor, Juvenile arthritis with rheumatoid factor, Juvenile arthritis rheumatoid factor positive

X-linked intellectual disability through mutation of PQBP1

Retrolental fibroplasia, RDP, ROP

Thumb and big toe syndrome, SRT

Hexosaminidase A and B deficiency, GM2 gangliosidosis

Non-traumatic secondary AVN

Autosomal recessive thrombophilia due to PC deficiency, Autosomal recessive thrombophilia due to congenital protein C deficiency

sickle cell anemia

Flavimacular macular dystrophy, Fundus flavimaculatus, Stargardt 1

Stevens-Johnson type dermatostomatitis

Still's disease in children, systemic JIA

Hexosaminidase A deficiency, GM2 Gangliosidosis variants B, B1

Moschcowitz disease, PTT

Lyell syndrome, NET

MECP2 duplication syndrome, X-linked intellectual disability syndrome type Lubs

Bourneville disease, STB

Familial Hibernian fever, Autosomal dominant periodic fever, TNF receptor 1-associated periodic syndrome, TRAPS

FAH deficiency, Fumarylacetoacetase deficiency, Fumarylacetoacetate hydrolase deficiency, Hepato-renal tyrosinosis, Hepato-renal tyrosinemia, HT1

Retinitis pigmentosa-deafness syndrome, USH

Acquired primary erythrocytosis, Osler-Vaquez disease, Polycythaemia rubra vera, Polycythemia vera, Essential polyglobulia

Ehlers-Danlos syndrome type 4, Sack-Barabas syndrome, EDS4, arterial-ecchymotic SED, SED type 4

KCV

von Hippel-Lindau cerebelloretinal angiomatosis, familial retinocerebellar angiomatosis, VH

Constitutional von Willebrand Disease, Hereditary von Willebrand Disease

Granulomatosis with polyangiitis, GPA

Infantile spasm syndrome

Wart syndrome-hypogammaglobulinemia-infections-myelokathexis, Wart syndrome-infections-leukopenia-myelokathexis, WHIM

Deletion 7q11.23, Monosomy 7q11.23

Hepato-lenticular degeneration, Ceruleoplasmins, Cupremia

DIDMOAD syndrome

SLC6A8 deficiency

XLH

Moon children's disease