Rare diseases
Explore drug discovery landscapes
5,846 rare diseases
1M+ papers
Rare neurological diseases
CLN3 disease
319
Motor neuron disease
2,548
Congenital diaphragmatic hernia
2,257
Charcot-Marie-Tooth disease type 1
720
Myotonic dystrophy
1,068
Spinocerebellar ataxia type 3
689
Congenital muscular dystrophy
627
Myotonic syndrome
1,087
Rett syndrome
1,213
Narcolepsy
1,666
Neuromyelitis optica spectrum disorder
1,854
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
1,047
Angelman syndrome
394
Multiple system atrophy
954
Frontotemporal dementia
1,992
Becker muscular dystrophy
553
MELAS
521
Hereditary spastic paraplegia
600
Behavioral variant of frontotemporal dementia
259
Oculopharyngeal muscular dystrophy
165
Pelizaeus-Merzbacher disease
133
Spinocerebellar ataxia type 1
329
Friedreich ataxia
1,045
Facioscapulohumeral dystrophy
542
Mitochondrial myopathy
1,219
Steinert myotonic dystrophy
977
NMDA receptor encephalitis
1,128
Duchenne and Becker muscular dystrophy
303
Charcot-Marie-Tooth disease type 1A
675
CLN2 disease
225
Aicardi-Goutières syndrome
329
Laminin subunit alpha 2-related congenital muscular dystrophy
192
Autosomal dominant cerebellar ataxia
290
Corticobasal syndrome
185
Dysferlin-related limb-girdle muscular dystrophy R2
239
Spinocerebellar ataxia type 7
309
Spinocerebellar ataxia type 2
379
Collagen VI-related congenital muscular dystrophy
63
Lennox-Gastaut syndrome
1,447
Neuronal ceroid lipofuscinosis
749
Trigeminal neuralgia
3,893
CDKL5-deficiency disorder
178
Progressive supranuclear palsy
712
Moderate and severe traumatic brain injury
1,737
Inclusion body myositis
521
Atypical autism
755
Limb-girdle muscular dystrophy
718
Ataxia-telangiectasia
1,749
CLN7 disease
37
Kennedy disease
345
CLN6 disease
66
Distal spinal muscular atrophy type 3
160
Moyamoya disease
2,021
Atypical Rett syndrome
283
Early-onset Lafora body disease
53
Acute disseminated encephalomyelitis
468
Dravet syndrome
1,170
Huntington disease
5,212
Guillain-Barré syndrome
1,600
Infantile spasms syndrome
1,129
Pantothenate kinase-associated neurodegeneration
202
Epilepsy syndrome
3,281
Neurodegeneration with brain iron accumulation
300
Malignant hyperthermia of anesthesia
883
Complex regional pain syndrome
2,200
Idiopathic inflammatory myopathy
867
Allan-Herndon-Dudley syndrome
122
Idiopathic intracranial hypertension
1,603
Lafora disease
204
Acute transverse myelitis
411
Rare dystonia
382
STXBP1-related encephalopathy
35
X-linked centronuclear myopathy
176
Rasmussen subacute encephalitis
77
Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
214
Alexander disease
109
Classic stiff person syndrome
47
Canavan disease
136
Juvenile myoclonic epilepsy
364
Dentatorubral pallidoluysian atrophy
77
Primary angiitis of the central nervous system
184
X-linked Charcot-Marie-Tooth disease type 6
66
Centronuclear myopathy
162
Bilirubin encephalopathy
988
PANDAS
153
Charcot-Marie-Tooth disease type 4
57
Posterior cortical atrophy
135
SYNGAP1-related developmental and epileptic encephalopathy
18
Spastic paraplegia type 7
37
Spinocerebellar ataxia type 6
291
X-linked Charcot-Marie-Tooth disease type 1
134
Idiopathic hypersomnia
286
Neurofibromatosis type 1
1,959
Metachromatic leukodystrophy
338
GNE myopathy
148
Classic glucose transporter type 1 deficiency syndrome
149
Pyridoxine-dependent epilepsy
222
Hemifacial spasm
1,519
Multifocal motor neuropathy
309
Autosomal dominant Charcot-Marie-Tooth disease type 2
154
Lambert-Eaton myasthenic syndrome
338
Familial dysautonomia
208
Alternating hemiplegia of childhood
90
New-onset refractory status epilepticus
259
ADNP syndrome
58
Full schwannomatosis
133
Proximal spinal muscular atrophy
169
Glycine encephalopathy
126
FOXG1 syndrome
46
Progressive supranuclear palsy-corticobasal syndrome
119
Amyotrophic lateral sclerosis type 4
313
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
49
Charcot-Marie-Tooth disease type 2S
23
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
89
Acquired aneurysmal subarachnoid hemorrhage
366
Blepharospasm-oromandibular dystonia syndrome
375
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
44
Photosensitive epilepsy
523
Myofibrillar myopathy
151
Thomsen and Becker disease
201
Ataxia with vitamin E deficiency
104
NARP syndrome
60
Methionine adenosyltransferase I/III deficiency
32
Dopa-responsive dystonia
144
Sporadic Creutzfeldt-Jakob disease
322
Locked-in syndrome
418
Adenylosuccinate lyase deficiency
41
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
51
Fatal familial insomnia
80
Calpain-3-related limb-girdle muscular dystrophy R1
135
Giant axonal neuropathy
43
Neuropathy with hearing impairment
185
Choreoacanthocytosis
78
Logopenic progressive aphasia
149
Congenital central hypoventilation syndrome
291
Hypnic headache
60
Neurodegenerative syndrome due to cerebral folate transport deficiency
109
Glossopharyngeal neuralgia
394
Postpoliomyelitis syndrome
275
Early-onset generalized limb-onset dystonia
197
Myopathy and diabetes mellitus
334
Infantile dystonia-parkinsonism
29
Primary orthostatic tremor
51
Progressive supranuclear palsy-predominant parkinsonism syndrome
90
Reversible cerebral vasoconstriction syndrome
171
Delayed encephalopathy due to carbon monoxide poisoning
130
Spinal muscular atrophy with respiratory distress type 2
144
Genetic periodic paralysis
199
Juvenile myasthenia gravis
318
Postpartum psychosis
378
Progressive myoclonic epilepsy type 8
7
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
75
Dopa-responsive dystonia due to sepiapterin reductase deficiency
53
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
11
Episodic ataxia type 1
82
Hereditary sensory and autonomic neuropathy type 1
64
FKRP-related limb-girdle muscular dystrophy R9
69
DNAJB6-related limb-girdle muscular dystrophy D1
15
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
78
Serotonin syndrome
556
Miyoshi myopathy
92
Hereditary motor and sensory neuropathy type 6
78
Myoclonic epilepsy of infancy
190
Postencephalitic parkinsonism
87
Riboflavin transporter deficiency
141
Spinocerebellar ataxia with axonal neuropathy type 1
32
Acute transverse myelitis with anti-MOG antibodies
52
GNAO1-related developmental delay-seizures-movement disorder spectrum
30
Autosomal dominant dopa-responsive dystonia
76
Adult-onset autosomal dominant leukodystrophy
29
Variant Creutzfeldt-Jakob disease
557
RFVT3-related riboflavin transporter deficiency
48
Autosomal recessive dopa-responsive dystonia
41
X-linked Charcot-Marie-Tooth disease type 3
73
X-linked Charcot-Marie-Tooth disease type 4
56
X-linked Charcot-Marie-Tooth disease type 2
90
Autosomal dominant spastic paraplegia type 4
75
Autosomal recessive spastic paraplegia type 15
42
Intermediate collagen VI-related muscular dystrophy
18
Charcot-Marie-Tooth disease type 4C
71
Idiopathic small fibers neuropathy
94
Acute flaccid myelitis
169
Duchenne muscular dystrophy
5,313
Primary erythromelalgia
309
KCNQ2-related epileptic encephalopathy
71
Myoclonic-astatic epilepsy
232
Hereditary hyperekplexia
93
Rare metabolic diseases
Mitochondrial disease
3,121
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
506
Gaucher disease type 1
1,477
Cystinosis
588
Mucopolysaccharidosis type 3
322
Sanfilippo syndrome type C
113
Hurler syndrome
686
Barth syndrome
188
Acute hepatic porphyria
339
Mucopolysaccharidosis type 4
232
Glycogen storage disease due to acid maltase deficiency
1,244
Fabry disease
1,685
Niemann-Pick disease type C
721
Gaucher disease
1,825
Disorder of bile acid synthesis
661
Mucopolysaccharidosis type 4A
295
Classic galactosemia
343
Autosomal erythropoietic protoporphyria
333
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
224
Fucosidosis
67
Sanfilippo syndrome type A
271
Acute intermittent porphyria
444
Mucopolysaccharidosis type 10
133
Phenylketonuria
1,666
Mucopolysaccharidosis type 2
559
Tay-Sachs disease
307
GM2 gangliosidosis
275
Propionic acidemia
381
Ornithine transcarbamylase deficiency
372
Sandhoff disease
234
GM1 gangliosidosis
184
Tyrosinemia type 1
449
Danon disease
90
Erythropoietic porphyria
257
Galactosemia
472
Alkaptonuria
277
Porphyria
1,250
Vitamin B12-unresponsive methylmalonic acidemia
252
Sanfilippo syndrome type B
236
Farber disease
72
Mucopolysaccharidosis type 7
307
Galactosialidosis
57
Citrullinemia type I
124
Vitamin B12-responsive methylmalonic acidemia
164
Sialidosis
81
Congenital erythropoietic porphyria
142
Leigh syndrome
491
Krabbe disease
462
Citrullinemia
227
Mucopolysaccharidosis type 1
639
X-linked adrenoleukodystrophy
576
Lysosomal acid lipase deficiency
186
Mucopolysaccharidosis type 6
297
Mucolipidosis
236
Glycogen storage disease due to glycogen debranching enzyme deficiency
118
Homocystinuria due to cystathionine beta-synthase deficiency
496
Argininemia
188
Maple syrup urine disease
463
Mitochondrial trifunctional protein deficiency
64
Very long chain acyl-CoA dehydrogenase deficiency
184
Sanfilippo syndrome type D
89
PMM2-CDG
149
Alpha-mannosidosis
128
Glycogen storage disease due to glucose-6-phosphatase deficiency
424
Mitochondrial neurogastrointestinal encephalomyopathy
103
Wolman disease
103
Beta-mannosidosis
17
Argininosuccinic aciduria
105
Mitochondrial DNA-associated Leigh syndrome
38
GM3 synthase deficiency
29
Vitamin B12-unresponsive methylmalonic acidemia type mut0
74
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
36
Disorder of asparagine metabolism
41
Infantile neurovisceral acid sphingomyelinase deficiency
156
Congenital disorder of glycosylation
500
X-linked creatine transporter deficiency
92
X-linked erythropoietic protoporphyria
62
Lysinuric protein intolerance
81
Isolated complex I deficiency
143
Medium chain acyl-CoA dehydrogenase deficiency
103
Disorder of urea cycle metabolism and ammonia detoxification
156
Pyruvate dehydrogenase deficiency
336
Carnitine palmitoyltransferase II deficiency
160
Creatine deficiency syndrome
62
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
108
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
39
Multiple sulfatase deficiency
50
Pearson syndrome
30
Succinic semialdehyde dehydrogenase deficiency
99
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
39
Citrullinemia type II
114
Glutaryl-CoA dehydrogenase deficiency
165
PGM1-CDG
110
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
164
Disorder of fatty acid oxidation and ketogenesis
197
Aspartylglucosaminuria
40
Glycogen storage disease type IV
48
Sialidosis type 1
61
Triose phosphate-isomerase deficiency
36
Neonatal adrenoleukodystrophy
329
Mevalonic aciduria
184
Isovaleric acidemia
76
Multiple carboxylase deficiency
63
Hawkinsinuria
31
Peroxisomal acyl-CoA oxidase deficiency
100
Dihydropyrimidine dehydrogenase deficiency
236
Carnitine palmitoyl transferase 1A deficiency
119
Neutral lipid storage disease
67
Exercise intolerance with lactic acidosis
53
Multiple mitochondrial DNA deletion syndrome
8
Malonic aciduria
46
Succinyl-CoA:3-oxoacid CoA transferase deficiency
20
3-methylcrotonyl-CoA carboxylase deficiency
38
Gamma-aminobutyric acid transaminase deficiency
88
Hyperlysinemia
24
2-hydroxyglutaric aciduria
74
Fatal infantile cytochrome C oxidase deficiency
21
Isolated complex III deficiency
32
D,L-2-hydroxyglutaric aciduria
42
Pyruvate carboxylase deficiency, benign type
25
Pyruvate carboxylase deficiency, infantile type
30
Pyruvate carboxylase deficiency, severe neonatal type
14
Disorder of lysine and hydroxylysine metabolism
28
Disorder of folate metabolism and transport
102
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
36
Glycogen storage disease due to glycogen synthase deficiency
42
Symptomatic form of HFE-related hemochromatosis
41
Severe primary trimethylaminuria
31
Disorders of pentose/polyol metabolism
24
Sporadic porphyria cutanea tarda
110
Pyruvate carboxylase deficiency
45
Mitochondrial pyruvate carrier deficiency
95
Short chain acyl-CoA dehydrogenase deficiency
30
Heme oxygenase-1 deficiency
453
Gluconeogenesis disorder
510
2-methylbutyryl-CoA dehydrogenase deficiency
22
Chronic visceral acid sphingomyelinase deficiency
91
Glutaric acidemia type 3
20
Biotinidase deficiency
151
Holocarboxylase synthetase deficiency
81
Congenital glucokinase-related hyperinsulinism
21
Alpha-N-acetylgalactosaminidase deficiency type 1
11
MPI-CDG
86
L-2-hydroxyglutaric aciduria
39
D-2-hydroxyglutaric aciduria
28
DPAGT1-CDG
8
Isolated sulfite oxidase deficiency
67
Porphyria cutanea tarda
315
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
28
Chronic neurovisceral acid sphingomyelinase deficiency
82
Menkes disease
254
Multiple acyl-CoA dehydrogenase deficiency
226
Methylmalonic acidemia with homocystinuria
113
Rare oncological diseases
B-cell non-Hodgkin lymphoma
2,843
Rhabdoid tumor
1,021
Anaplastic thyroid carcinoma
2,276
Myeloproliferative neoplasm
3,193
Burkitt lymphoma
2,507
Malignant tumor of penis
1,605
Rare tumor of pancreas
1,876
Medulloblastoma
4,087
Adrenocortical carcinoma
1,693
Chondrosarcoma
2,299
Uveal melanoma
3,305
Malignant peripheral nerve sheath tumor
1,021
Von Hippel-Lindau disease
983
Primary cutaneous lymphoma
1,014
Systemic mastocytosis
959
Adenocarcinoma of the esophagus
3,174
Rare thyroid carcinoma
1,219
Malignant tumor of fallopian tubes
560
Chordoma
2,045
Adult T-cell leukemia/lymphoma
1,581
Gastroenteropancreatic neuroendocrine neoplasm
1,439
Cutaneous neuroendocrine carcinoma
1,683
Extranodal nasal NK/T cell lymphoma
1,250
Hepatoblastoma
1,608
Pseudomyxoma peritonei
1,022
Squamous cell carcinoma of the oral cavity
1,347
Diffuse intrinsic pontine glioma
1,889
Primary peritoneal carcinoma
656
Myelodysplastic neoplasm with increased blasts
2,001
Precursor T-cell acute lymphoblastic leukemia
2,966
Soft tissue sarcoma
5,998
Mantle cell lymphoma
3,048
Precursor B-cell acute lymphoblastic leukemia
3,177
Indolent B-cell non-Hodgkin lymphoma
908
Angioimmunoblastic T-cell lymphoma
734
Classic Hodgkin lymphoma
1,360
Medullary thyroid carcinoma
1,869
Waldenström macroglobulinemia
1,264
Anaplastic large cell lymphoma
1,424
Giant cell tumor of bone
1,894
Squamous cell carcinoma of the oropharynx
674
Classic mycosis fungoides
168
Squamous cell carcinoma of the anal canal
960
Central nervous system embryonal tumor
226
Carcinoma of the ampulla of Vater
1,000
Classic hairy cell leukemia
839
Ileal neuroendocrine tumor
333
Marginal zone lymphoma
1,329
Follicular lymphoma
3,455
Chronic myelomonocytic leukemia
880
Adenocarcinoma of ovary
2,479
Inflammatory myofibroblastic tumor
679
Benign schwannoma
1,741
Adult hepatocellular carcinoma
266
Skeletal Ewing sarcoma
813
Juvenile myelomonocytic leukemia
489
T-cell prolymphocytic leukemia
284
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
249
Carcinoma of the anal canal
860
Large granular lymphocyte leukemia
314
Benign tumor of fallopian tubes
55
Extramammary Paget disease
676
Hemangioblastoma
730
Yolk sac tumor
839
Germ cell tumor of testis
1,997
Plasmablastic lymphoma
290
Vulvar squamous cell carcinoma
933
Therapy related acute myeloid leukemia and myelodysplastic syndrome
3,271
Bronchial neuroendocrine tumor
341
Jejunal neuroendocrine tumor
81
Myelodysplastic neoplasm with increased blasts type 2
360
Mastocytosis
1,649
Perivascular epithelioid cell neoplasm
407
T-cell non-Hodgkin lymphoma
431
Carcinoma of gallbladder and extrahepatic biliary tract
1,064
Angiosarcoma
1,299
Primary mediastinal large B-cell lymphoma
473
Splenic marginal zone lymphoma
355
Blastic plasmacytoid dendritic cell neoplasm
348
Desmoid tumor
1,228
Carcinoid syndrome
1,762
Dedifferentiated liposarcoma
837
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
1,027
NUT midline carcinoma
180
Dermatofibrosarcoma protuberans
646
Primary intraocular lymphoma
336
Hereditary retinoblastoma
314
Rare head and neck tumor
212
Epstein-Barr virus-positive diffuse large B-cell lymphoma
164
Rare carcinoma of stomach
417
Li-Fraumeni syndrome
365
Rare uterine cancer
929
Thymic epithelial neoplasm
970
Liposarcoma
2,042
Rare hepatic and biliary tract tumor
130
Thymic carcinoma
1,458
Refractory anemia with excess blasts in transformation
717
Vaginal carcinoma
473
Gestational trophoblastic disease
1,300
Sézary syndrome
1,505
Rhabdoid tumor predisposition syndrome
32
MiT family translocation renal cell carcinoma
337
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
17
ALK-positive large B-cell lymphoma
105
Non-seminomatous germ cell tumor of testis
644
PTEN hamartoma tumor syndrome
179
Fibrolamellar hepatocellular carcinoma
328
Squamous cell carcinoma of the penis
803
Squamous cell carcinoma of the rectum
136
Rare carcinoma of small intestine
156
Squamous cell carcinoma of the hypopharynx
337
Hereditary leiomyomatosis and renal cell cancer
209
B-cell prolymphocytic leukemia
112
Acute myeloid leukaemia with myelodysplasia-related features
572
Nodular lymphocyte predominant Hodgkin lymphoma
311
Enteropathy-associated T-cell lymphoma
176
Rare renal tumor
194
Intravascular large B-cell lymphoma
225
Diffused pleural mesothelioma
705
Primary benign peritoneal tumor
13
Klatskin tumor
2,584
Thymoma
2,201
Malignant epithelial tumor of salivary glands
802
Malignant peritoneal mesothelioma
1,542
MALT lymphoma
1,380
Small cell carcinoma of the ovary
1,891
Atypical chronic myeloid leukemia
138
Familial papillary or follicular thyroid carcinoma
1,377
Acute leukemia of ambiguous lineage
579
Bone sarcoma
2,134
Nodal marginal zone B-cell lymphoma
222
Rare hematologic diseases
Shwachman-Diamond syndrome
210
Thrombotic thrombocytopenic purpura
1,785
Beta-thalassemia major
822
Shiga toxin-associated hemolytic uremic syndrome
624
Rare acquired aplastic anemia
275
Bernard-Soulier syndrome
138
Sickle cell disease and related diseases
1,757
Paroxysmal nocturnal hemoglobinuria
1,113
Essential thrombocythemia
1,698
Von Willebrand disease
1,494
Severe hemophilia A
3,207
Alpha-thalassemia
336
Diamond-Blackfan anemia
397
Acquired hemophilia A
896
Ricin poisoning
813
Polycythemia vera
1,840
Autoimmune hemolytic anemia
1,504
Hemolytic disease due to fetomaternal alloimmunization
733
Hemoglobin H disease
163
Idiopathic aplastic anemia
204
Severe hemophilia B
940
Rare aplastic anemia
283
Hemolytic anemia due to red cell pyruvate kinase deficiency
83
Glanzmann thrombasthenia
472
Beta-thalassemia intermedia
464
Cold agglutinin disease
410
Beta-thalassemia
3,128
Partial deep dermal and full thickness burns
968
Congenital factor X deficiency
131
Fetal and neonatal alloimmune thrombocytopenia
353
Uremic pruritus
541
Hypoplasminogenemia
138
Congenital factor VII deficiency
477
Congenital factor II deficiency
229
Congenital factor XI deficiency
356
Hereditary spherocytosis
419
Congenital dyserythropoietic anemia
139
Congenital factor XIII deficiency
214
Hemoglobin E disease
64
Hereditary thrombophilia due to congenital antithrombin deficiency
28
Acquired methemoglobinemia
451
Acquired prothrombin deficiency
43
X-linked sideroblastic anemia
61
Imerslund-Gräsbeck syndrome
25
Acquired factor VII deficiency
59
Acquired factor XIII deficiency
141
Congenital dyserythropoietic anemia type I
70
Hemophilia B Leyden
1,455
Congenital fibrinogen deficiency
150
Rare cardiac diseases
Catecholaminergic polymorphic ventricular tachycardia
785
Inherited arrhythmogenic cardiomyopathy
720
Rare familial disorder with hypertrophic cardiomyopathy
272
Familial long QT syndrome
1,688
Peripartum cardiomyopathy
623
Brugada syndrome
895
Jervell and Lange-Nielsen syndrome
1,387
Postcardiotomy right ventricular failure
570
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
5
Inherited isolated arrhythmogenic cardiomyopathy
112
Primary triglyceride deposit cardiomyovasculopathy
33
Rare immune diseases
Primary immunodeficiency
2,145
Dyskeratosis congenita
377
Common variable immunodeficiency
1,175
Chronic granulomatous disease
1,020
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
520
Wiskott-Aldrich syndrome
614
X-linked hyper-IgM syndrome
193
Primary hemophagocytic lymphohistiocytosis
870
Hyperimmunoglobulinemia D with periodic fever
164
T-B+ severe combined immunodeficiency due to gamma chain deficiency
189
Acute graft versus host disease
3,442
Hyper-IgE syndrome
384
Severe combined immunodeficiency due to adenosine deaminase deficiency
485
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
17
Autoimmune lymphoproliferative syndrome
274
Severe combined immunodeficiency due to complete RAG1/2 deficiency
62
X-linked lymphoproliferative disease due to SAP deficiency
119
Chronic graft versus host disease
2,416
Familial hemophagocytic lymphohistiocytosis
840
Leukocyte adhesion deficiency type I
115
X-linked agammaglobulinemia
492
Combined immunodeficiency with granulomatosis
37
Combined immunodeficiency due to partial RAG1 deficiency
24
Omenn syndrome
303
Hyper-IgM syndrome type 3
148
Leukocyte adhesion deficiency type II
47
Rare systemic or rheumatologic diseases
Hereditary angioedema with C1Inh deficiency
1,138
Wild type ATTR amyloidosis
563
Anti-neutrophil cytoplasmic antibody-associated vasculitis
1,852
Anti-glomerular basement membrane disease
698
Hereditary angioedema type 1
515
Juvenile idiopathic arthritis
2,879
Kawasaki disease
1,926
Juvenile dermatomyositis
581
Hereditary ATTR amyloidosis
1,149
Familial Mediterranean fever
1,252
Dermatomyositis
1,937
Adult-onset Still disease
820
Marfan syndrome
1,638
CAR T cell therapy-associated cytokine release syndrome
163
Macrophage activation syndrome
817
Multisystem inflammatory syndrome in children and adults
357
Diffuse cutaneous systemic sclerosis
1,097
IgG4-related disease
1,443
AL amyloidosis
1,634
Limited systemic sclerosis
778
Eosinophilic granulomatosis with polyangiitis
1,335
Calciphylaxis
725
Polymyositis
964
Microscopic polyangiitis
1,073
Pyoderma gangrenosum
1,411
Pediatric systemic lupus erythematosus
1,123
Langerhans cell histiocytosis
1,287
Ehlers-Danlos syndrome
769
Granulomatosis with polyangiitis
2,025
Rheumatic fever
1,015
Limited cutaneous systemic sclerosis
358
Antiphospholipid syndrome
2,706
F12-related hereditary angioedema with normal C1Inh
215
Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
1,330
Hereditary angioedema
1,749
Tenosynovial giant cell tumor
606
Muckle-Wells syndrome
372
Systemic-onset juvenile idiopathic arthritis
453
Polyarticular juvenile idiopathic arthritis
705
Buerger disease
833
Schnitzler syndrome
201
Tumor necrosis factor receptor 1 associated periodic syndrome
144
Takayasu arteritis
1,320
Acquired angioedema
226
Juvenile polymyositis
142
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
76
Acquired angioedema type 1
103
Idiopathic recurrent pericarditis
296
Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
1,179
Behçet disease
1,971
NLRP3-associated autoinflammatory disease
458
Erdheim-Chester disease
459
Rare infectious diseases
Marburg hemorrhagic fever
421
Herpes simplex virus encephalitis
1,243
Amoebic keratitis
1,056
Botulism
1,362
Ebola hemorrhagic fever
2,120
Lassa fever
711
Crimean-Congo hemorrhagic fever
516
Progressive multifocal leukoencephalopathy
791
Necrotizing soft tissue infection
1,014
Yellow fever
1,255
Invasive candidiasis
5,315
Human infection by orthopoxvirus
1,934
Inhalational anthrax
775
Chikungunya
2,007
Staphylococcal necrotizing pneumonia
401
Meningococcal meningitis
1,815
Lyme disease
2,204
Typhoid
2,653
Zygomycosis
2,199
Infant botulism
718
Japanese encephalitis
1,712
Plague
1,027
Ankylostomiasis
1,112
Whipple disease
314
Mycetoma
533
Microsporidiosis
413
Rift valley fever
652
Loiasis
196
Dracunculiasis
102
Avian influenza
4,614
Zika virus disease
2,266
Chromomycosis
475
Cyclosporiasis
37
Nocardiosis
1,094
Paracoccidioidomycosis
724
Staphylococcal scalded skin syndrome
163
Scrub typhus
538
Rocky Mountain spotted fever
218
Nipah virus disease
693
Clonorchiasis
291
Borna virus encephalitis
72
Sporotrichosis
724
Cryptococcosis
2,680
Strongyloidiasis
828
African trypanosomiasis
3,579
Coccidioidomycosis
901
Pneumocystosis
1,709
Onchocerciasis
1,273
Cysticercosis
1,255
Histoplasmosis
1,122
Rare genetic diseases
Rare developmental defect during embryogenesis
Fragile X syndrome
1,561
Hutchinson-Gilford progeria syndrome
652
Alagille syndrome
325
Phelan-McDermid syndrome
169
Prader-Willi syndrome
1,046
22q11.2 deletion syndrome
636
Usher syndrome type 1
142
Maternal phenylketonuria
370
Tuberous sclerosis complex
2,525
Hereditary hemorrhagic telangiectasia
1,156
Usher syndrome
427
Univentricular heart
1,976
Congenital pseudoarthrosis of the tibia
373
Proximal Xq28 duplication syndrome
100
Isolated biliary atresia
1,596
Lesch-Nyhan syndrome
256
Fetal alcohol syndrome
1,501
Congenital varicella syndrome
94
Exstrophy-epispadias complex
578
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
195
Noonan syndrome
557
Bardet-Biedl syndrome
251
Rare infantile hemangioma
330
Turner syndrome
1,208
Smith-Magenis syndrome
103
Pitt-Hopkins syndrome
52
Alström syndrome
70
Cockayne syndrome
204
Hypoplastic left heart syndrome
1,918
Congenital herpes simplex virus infection
106
Isolated pseudoarthrosis of the limbs
115
Costello syndrome
109
Werner syndrome
460
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
13
Cardiofaciocutaneous syndrome
80
Cantú syndrome
39
Fetal methylmercury syndrome
139
Kabuki syndrome
126
X-linked intellectual disability, Snyder type
32
Pelizaeus-Merzbacher-like disease
91
Smith-Lemli-Opitz syndrome
142
Rubinstein-Taybi syndrome due to CREBBP mutations
24
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
10
Prader-Willi-like syndrome
51
Klippel-Trénaunay syndrome
237
Premature closure of the arterial duct
1,331
Hypoplastic right heart syndrome
138
Rare lymphatic malformation
1,051
Epithelioid hemangioendothelioma
381
Coats disease
270
Rare endocrine diseases
Obesity due to congenital leptin deficiency
169
Familial chylomicronemia syndrome
279
Congenital adrenal hyperplasia
1,152
Cushing disease
1,227
Cushing syndrome due to ectopic ACTH secretion
802
Congenital generalized lipodystrophy
351
Obesity due to leptin receptor gene deficiency
232
Familial lipoprotein lipase deficiency
372
Obesity due to melanocortin 4 receptor deficiency
605
Primary adrenal insufficiency
782
Apolipoprotein A-I deficiency
332
Arginine vasopressin deficiency
435
LCAT deficiency
245
Tangier disease
301
Addison disease
468
ACTH-dependent Cushing syndrome
838
Homozygous familial hypercholesterolemia
1,412
Congenital isolated hyperinsulinism
712
Acromegaly
3,180
Endogenous Cushing syndrome
364
Rare diabetes mellitus type 1
337
Growth hormone insensitivity syndrome
208
Insulinoma
2,886
Isolated congenital hypogonadotropic hypogonadism
124
Obesity due to pro-opiomelanocortin deficiency
627
Familial LCAT deficiency
145
Zollinger-Ellison syndrome
906
Insulin autoimmune syndrome
176
Congenital hypogonadotropic hypogonadism
492
Chronic primary adrenal insufficiency
298
Laron syndrome
339
Rabson-Mendenhall syndrome
43
Acquired partial lipodystrophy
168
Familial partial lipodystrophy
243
Leprechaunism
57
Chylomicron retention disease
31
Prolactinoma
2,213
Autoimmune polyendocrinopathy
712
MODY
634
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
67
Localized lipodystrophy
229
Sheehan syndrome
86
Cholesterol-ester transfer protein deficiency
99
Resistance to thyrotropin-releasing hormone syndrome
120
Rare hypoparathyroidism
194
Rare central precocious puberty
1,013
Hereditary pheochromocytoma-paraganglioma
391
Craniopharyngioma
1,946
Rare primary hyperaldosteronism
414
Familial primary hyperparathyroidism
464
Rare skin diseases
Ichthyosis
868
Pseudoxanthoma elasticum
298
Xeroderma pigmentosum
1,229
Dystrophic epidermolysis bullosa
1,038
Severe generalized junctional epidermolysis bullosa
298
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
220
Netherton syndrome
279
Localized scleroderma
864
Alopecia totalis
548
Inherited epidermolysis bullosa
757
Generalized pustular psoriasis
742
Epidermolysis bullosa acquisita
371
Recessive X-linked ichthyosis
98
Autosomal recessive congenital ichthyosis
178
Bullous pemphigoid
1,239
Linear IgA dermatosis
153
Sjögren-Larsson syndrome
49
Late-onset junctional epidermolysis bullosa
179
Solar urticaria
235
Pemphigus vulgaris
1,484
Keratinopathic ichthyosis
9
Darier disease
325
Nephrogenic systemic fibrosis
254
Palmoplantar keratoderma, Nagashima type
22
Localized junctional epidermolysis bullosa
124
Acute generalized exanthematous pustulosis
160
X-linked ichthyosis syndrome
44
Stevens-Johnson syndrome
1,344
Necrobiosis lipoidica
222
Xeroderma pigmentosum variant
346
Centrifugal lipodystrophy
13
Junctional epidermolysis bullosa inversa
65
Punctate palmoplantar keratoderma type 1
12
Pellagra
505
Rare bone diseases
Fibrodysplasia ossificans progressiva
505
Osteogenesis imperfecta
1,889
Hypophosphatasia
486
Achondroplasia
637
X-linked hypophosphatemia
631
Osteopetrosis and related disorders
1,720
Osteonecrosis of the jaw
2,073
Hypophosphatemic rickets
836
Osteochondritis dissecans
1,568
Hypochondroplasia
114
Legg-Calvé-Perthes disease
916
Camurati-Engelmann disease
85
Diastrophic dysplasia
36
Pseudoachondroplasia
53
Sclerosteosis
206
TRPV4-related bone disorder
18
High bone mass osteogenesis imperfecta
73
Secondary non-traumatic avascular necrosis
323
Aneurysmal bone cyst
1,025
Metaphyseal chondrodysplasia, Jansen type
20
Idiopathic juvenile osteoporosis
66
Solitary bone cyst
291
Rare ophthalmic disorders
Retinopathy of prematurity
3,171
Inherited retinal disorder
2,180
Autosomal dominant optic atrophy
107
Choroideremia
204
Leber congenital amaurosis
987
Infectious posterior uveitis
331
Central retinal vein occlusion
2,110
Stargardt disease
585
Limbal stem cell deficiency
1,469
Anterior uveitis
1,278
Central retinal artery occlusion
741
Non-infectious anterior uveitis
445
Retinitis pigmentosa
3,422
Leber hereditary optic neuropathy
543
Endophthalmitis
3,244
Intermediate uveitis
707
Euthyroid Graves orbitopathy
793
Best vitelliform macular dystrophy
114
Idiopathic posterior uveitis
204
Leber plus disease
79
Vernal keratoconjunctivitis
929
X-linked retinoschisis
236
Non-infectious posterior uveitis
572
Scarring in glaucoma filtration surgical procedures
1,250
Congenital stationary night blindness
149
Progressive cone dystrophy
185
Gyrate atrophy of choroid and retina
160
Fundus albipunctatus
21
Progressive retinal dystrophy due to retinol transport defect
19
Central serous chorioretinopathy
1,247
Sympathetic ophthalmia
304
Bietti crystalline dystrophy
39
Infective keratitis
263
Rare gastroenterologic diseases
Necrotizing enterocolitis
3,764
Rare pancreatic disease
2,345
Familial adenomatous polyposis
2,546
Pouchitis
1,532
Microvillus inclusion disease
82
Peutz-Jeghers syndrome
395
Idiopathic gastroparesis
787
Primary eosinophilic gastrointestinal disease
306
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
108
Hirschsprung disease
1,823
Radiation proctitis
1,007
Anal fistula
1,488
Refractory celiac disease
339
Rare renal diseases
Thrombotic microangiopathy
2,465
Alport syndrome
594
Idiopathic nephrotic syndrome
1,611
Hemolytic uremic syndrome
2,287
Primary membranous glomerulonephritis
1,397
C3 glomerulopathy
587
Primary hyperoxaluria
807
Primary hyperoxaluria type 1
603
Idiopathic steroid-sensitive nephrotic syndrome
615
Primary membranoproliferative glomerulonephritis
512
Distal renal tubular acidosis
404
Arginine vasopressin resistance
765
Congenital nephrotic syndrome, Finnish type
129
Dent disease type 1
23
Cystinuria type A
161
Genetic steroid-resistant nephrotic syndrome
511
Immunoglobulin-mediated membranoproliferative glomerulonephritis
53
Hereditary xanthinuria
57
Genetic thrombotic microangiopathy
687
Proximal renal tubular acidosis
210
MUC1-related autosomal dominant tubulointerstitial kidney disease
24
Juvenile nephronophthisis
40
Atypical hemolytic uremic syndrome with anti-factor H antibodies
326
Cystinuria type B
86
Rare hepatic diseases
Progressive familial intrahepatic cholestasis
592
Primary sclerosing cholangitis
1,477
Wilson disease
1,247
Crigler-Najjar syndrome
421
Intrahepatic cholestasis of pregnancy
671
Dubin-Johnson syndrome
52
Syndromic biliary atresia
392
Congenital bile acid synthesis defect
45
Benign recurrent intrahepatic cholestasis
109
Congenital bile acid synthesis defect type 4
25
Parenteral nutrition-associated cholestasis
854
Congenital bile acid synthesis defect type 1
17
Congenital bile acid synthesis defect type 3
22
Benign recurrent intrahepatic cholestasis type 2
38
Benign recurrent intrahepatic cholestasis type 1
32
Rare respiratory disease
Bronchopulmonary dysplasia
4,247
Lymphangioleiomyomatosis
680
Primary ciliary dyskinesia
448
Recurrent respiratory papillomatosis
752
Chronic thromboembolic pulmonary hypertension
1,785
Idiopathic pulmonary arterial hypertension
3,563
Autoimmune pulmonary alveolar proteinosis
229
Pleural empyema
1,870
Pneumonia caused by Pseudomonas aeruginosa infection
939
Diffuse alveolar hemorrhage
648
Idiopathic pulmonary fibrosis
6,511
High altitude pulmonary edema
532
Meconium aspiration syndrome
851
Chronic beryllium disease
79
Hereditary pulmonary alveolar proteinosis
109
Chronic respiratory distress with surfactant metabolism deficiency
85
Hypersensitivity pneumonitis
604
Alpha-1-antitrypsin deficiency
1,040
Apnea of prematurity
1,216
Plastic bronchitis
279
Asbestos intoxication
390
Pulmonary arterial hypertension associated with HIV infection
60
Heritable pulmonary arterial hypertension
1,397
Pulmonary fungal infections in patients deemed at risk
204
Combined pulmonary fibrosis-emphysema syndrome
81
Interstitial lung disease due to SP-C deficiency
100
Pulmonary venoocclusive disease
182
Infantile apnea
86
Middle East respiratory syndrome
1,419
Rare circulatory system diseases
Rare urogenital diseases
Rare odontologic diseases
Rare otorhinolaryngologic disease
Rare gynecologic or obstetric diseases
Rare infertility
Rare abdominal surgical diseases
Rare maxillo-facial surgical disease
Rare disorder due to toxic effects
Paracetamol poisoning
2,686
Lead poisoning
1,475
Digitalis poisoning
351
Methanol poisoning
605
Cocaine intoxication
313
Infantile mercury poisoning
28
Paraquat poisoning
1,031
Colchicine poisoning
209
Acute opioid intoxication
63
Acute tricyclic antidepressant poisoning
218
Radiation-induced disorder
2,644
Cyanide poisoning
951
Mercury poisoning
980