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Gene: Aire MGI:1338803

Gene Summary

Name:

autoimmune regulator

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal retina morphology	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult	3.80×10^-06
increased monocyte cell number	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult	7.59×10^-05
abnormal eye morphology	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult	0.00
decreased prepulse inhibition	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult	2.52×10^-05
abnormal cholesterol homeostasis	Aire^{tm1.1(NCOM)Mfgc}	HET	Early adult	1.40×10^-08

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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Eye Morphology

Images Ophthalmoscopy

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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Immunophenotyping

Panel B FCS file(s)

8 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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Gross Pathology and Tissue Collection

Images

16 Images

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Histopathology

Images

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

17 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Human diseases caused by Aire mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Aire (2 diseases)
Human diseases predicted to be associated with Aire (1966 diseases)

The table below shows human diseases associated to Aire by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia		Perifoveal ring of hyperautofluorescence, Female hypogonadism, Type I diabetes mellitus, Adrenal ...	OMIM:240300
Autoimmune Polyendocrinopathy Type 1		Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Chro...	ORPHA:3453

The table below shows human diseases predicted to be associated to Aire by phenotypic similarity.

Disease	Matching phenotypes	Source
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Immunodeficiency With Defective T-Cell Response To Interleukin 1	Recurrent pneumonia, Recurrent otitis media	OMIM:243110
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Diarrhea, Skin rash, Decreased circulating antibody level, Partial a...	OMIM:618108
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Lymphoproliferative disorder, ...	OMIM:614470
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog...	OMIM:619079
Monocyte Chemotactic Disorder	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:252250
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren...	OMIM:616576
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Melioidosis	Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit...	ORPHA:31202
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Delayed puberty, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis, Decreased s...	OMIM:618985
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Respiratory tract infection, Splenomegaly, S...	ORPHA:444463
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Lymphoma, Eczematoid dermatitis, Bone marrow hypocellu...	OMIM:616871
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Anti-U1 ribonucleoprotein antibody positivity, Anti-dsDNA antibody positivity, Thyr...	OMIM:619375
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Complement Component 4B Deficiency	Recurrent otitis media, Chronic active hepatitis, Chronic diarrhea, Recurrent sinusitis, Recurren...	OMIM:614379
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Type I diabetes mellitus, Psoriasiform dermatitis,...	ORPHA:436159
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly, Myelodysplasia	OMIM:162830
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Autoimmune anti...	ORPHA:90283
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k...	OMIM:608189
Congenital Pancreatic Cyst	Vomiting, Jaundice, Pancreatitis	ORPHA:313906
Immunoglobulin A Deficiency 1	Recurrent infections, Recurrent infection of the gastrointestinal tract, Autoimmunity, Recurrent ...	OMIM:137100
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Diarrhea, Croh...	OMIM:616100
Autoimmune Thyroid Disease, Susceptibility To, 3	Thyroiditis	OMIM:608175
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic diarrhea, Decreased specific antibody response to vaccination, Recurrent sinusitis, Splen...	OMIM:614700
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Immunodeficiency 24	Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,...	OMIM:615897
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Microsporidiosis	Intermittent diarrhea, Adrenocortical abnormality, Bronchitis, Cachexia, Chronic diarrhea, Sinusi...	ORPHA:2552
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Sclerosing ...	ORPHA:2137
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Lupus anticoagulant, Oral ulcer, Skin rash, Lymphopenia, Thrombocytopenia, Antinucle...	OMIM:616744
Idiopathic Achalasia	Gastroesophageal reflux, Bronchitis, Recurrent aspiration pneumonia, Dysphagia, Weight loss	ORPHA:930
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Herpes simplex encephalitis, Increased B cell count, Hep...	OMIM:618982
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Immunodeficiency 15B	Chronic oral candidiasis, Monocytosis, Reduced natural killer cell count, Failure to thrive	OMIM:615592
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons...	ORPHA:183675
Cap Polyposis	Colorectal polyposis, Diarrhea, Constipation, Hematochezia, Atrophic gastritis, Weight loss	ORPHA:160148
Immunoglobulin A Deficiency 2	Autoimmunity, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract,...	OMIM:609529
Macular Degeneration, Age-Related, 13	Macular degeneration, Macular scar, Drusen, Choroidal neovascularization	OMIM:615439
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Decreased response to growth hormone st...	OMIM:307200
Neuromyelitis Optica Spectrum Disorder	Myelitis, Paraplegia, Optic neuritis, Nausea, Autoimmune antibody positivity, Peripheral demyelin...	ORPHA:71211
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the endocrine system, Cac...	ORPHA:37042
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Immune Thrombocytopenia	Thrombocytopenia, Platelet antibody positive	OMIM:188030
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Vocal ...	ORPHA:64744
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Panniculitis, Conical tooth, Optic neuritis, Complete or near-co...	OMIM:301081
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Chronic diarrhea, Complete or near-complete absence of...	OMIM:607271
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 84	B lymphocytopenia, B-cell lymphoma, Splenomegaly, Perianal abscess	OMIM:619437
Yao Syndrome	Pleuritis, Diarrhea, Arthritis, Skin rash, Xerostomia, Pericarditis, Inflammatory abnormality of ...	OMIM:617321
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Drusen, Reticular pigmentary degeneration	OMIM:267800
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Anti-smooth muscle antibody positivity, Cholangitis, Thyroiditis, Neutropenia in prese...	ORPHA:228426
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus	OMIM:246650
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Neutrophilia, ...	OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the ...	OMIM:300635
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Candidiasis, Familial, 1	Chronic mucocutaneous candidiasis, Recurrent viral infections, Cutaneous anergy	OMIM:114580
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Autoimmune antibody positivity, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Recurren...	OMIM:615559
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy	OMIM:603649
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increased circulating IgA level, Punc...	OMIM:617388
Chylous Ascites	Abnormal intestine morphology, Pancreatitis	ORPHA:1160
Mantle Cell Lymphoma	B-cell lymphoma, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p...	OMIM:613495
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Pleural effusi...	OMIM:612387
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent...	OMIM:619290
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro...	OMIM:613021
Complement Component C1R/C1S Deficiency	Arthritis, Discoid lupus rash, Recurrent bronchitis, Nephritis, Autoimmunity	OMIM:216950
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphoma, Hepatosplenomeg...	OMIM:619126
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:65682
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Emphysema, Hepatomegaly, Bronchitis, Hepatocellular carcinoma,...	ORPHA:60
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti...	ORPHA:2494
Cryptococcosis	Systemic lupus erythematosus, Cirrhosis, Prostatitis, Pleural effusion, Abnormal optic nerve morp...	ORPHA:1546
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade...	OMIM:619644
Young Syndrome	Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai...	OMIM:279000
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Decreased number of peripheral myelinated nerve fibers, Dysphagia, Clusters of axonal reg...	OMIM:607734
Bardet-Biedl Syndrome 16	Recurrent otitis media, External genital hypoplasia, Recurrent respiratory infections, Bronchioli...	OMIM:615993
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Decreased circulating IgE, Chronic diarrhea, Skin rash, H...	OMIM:300400
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Abnormality of exocrine pancreas physiology, Chronic bronchitis	OMIM:211400
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Oral ulcer, D...	OMIM:615122
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Perifoveal ring of hyperautofluorescence, Female hypogonadism, Type I diabetes mellitus, Adrenal ...	OMIM:240300
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Hepatitis Delta	Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ...	ORPHA:402823
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Subacute Inflammatory Demyelinating Polyneuropathy	Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor...	ORPHA:206594
Autoimmune Polyendocrinopathy Type 3	Biliary cirrhosis, Type I diabetes mellitus, Aplasia/Hypoplasia of the spleen, Anterior pituitary...	ORPHA:227982
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Au...	OMIM:617006
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Eczematoid dermatitis, ...	OMIM:269840
Rat-Bite Fever	Morbilliform rash, Myocarditis, Pancreatitis, Diarrhea, Arthritis, Skin rash, Parotitis, Lymphade...	ORPHA:31205
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Chro...	OMIM:300755
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Pus...	ORPHA:139402
Macular Dystrophy, Retinal, 1, North Carolina Type	Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen	OMIM:136550
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo...	OMIM:133180
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Decreased specific anti-polysaccharide antibody level, Recurrent respir...	OMIM:606367
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Omenn Syndrome	Hepatomegaly, Thyroiditis, Chronic diarrhea, Erythroderma, Hypothyroidism, Failure to thrive, Spl...	ORPHA:39041
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Chronic diarrhea, Bronchiectasis, Recurrent sinus...	OMIM:615207
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ...	OMIM:618944
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Colonic eosinoph...	OMIM:617638
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re...	ORPHA:60033
Doyne Honeycomb Retinal Dystrophy	Retinal dystrophy, Reticular pigmentary degeneration	OMIM:126600
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Prostatitis, Pancreati...	ORPHA:900
Macular Dystrophy, Retinal, 2	Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal...	OMIM:608051
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Eosinophilopenia	Autoimmunity, Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent respirat...	OMIM:300853
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Hemangioma...	ORPHA:486
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Hypohidrosis, Non-midline cleft of the upper lip, Cleft palate, Lacrimation abnormality	ORPHA:1484
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Axial dystonia, Dystonia, Dysphagia, Tetraparesis, Optic disc pallor	OMIM:618230
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections	OMIM:618806
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Failure t...	OMIM:617514
Igg4-Related Kidney Disease	Decreased liver function, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder in...	ORPHA:449395
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased num...	OMIM:180800
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Arthritis, Skin rash, Pericarditis, Splenomegaly, Anterior uveitis, Autoimmunity...	ORPHA:85414
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Abnormal pulmonary interstitial mor...	ORPHA:227990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Diarrhea, Arthriti...	OMIM:601457
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Failure to thrive, Hepatosplenom...	OMIM:618963
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Abnorma...	ORPHA:3143
Cone-Rod Dystrophy 22	Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels...	OMIM:619531
Autoinflammatory Disease, Systemic, With Vasculitis	Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Congenital hydrocele, Atopic d...	OMIM:620376
Macular Dystrophy, Vitelliform, 2	Cystoid macular degeneration, Macular dystrophy, Subretinal fluid	OMIM:153700
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Diarrhea, Thyroiditis, Eczematoid dermatitis, Sin...	ORPHA:83471
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Recurrent bacterial infections, Partial absence of specific antibody resp...	OMIM:240500
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Myel...	OMIM:614172
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Skin rash, Uveitis, Conjunctivitis	OMIM:120100
Isolated Congenital Hypoglossia/Aglossia	Cleft palate, Weight loss, Aspiration pneumonia, Microglossia	ORPHA:141152
Igg4-Related Ophthalmic Disease	Prostatitis, Pancreatitis, Cholangitis, Sialadenitis, Thyroiditis, Neoplasm of the lung, Abnormal...	ORPHA:449563
Diencephalic Syndrome	Optic atrophy, Long penis, Cachexia, Decreased body weight, Abnormality of the hypothalamus-pitui...	ORPHA:1672
Retinitis Pigmentosa 31	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:609923
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hyperinsulinemia, Polycystic ovaries, Diabetes mellitus, Hepatic stea...	ORPHA:79084
Thyroid Hemiagenesis	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating free T3, Ja...	ORPHA:95719
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope...	OMIM:615285
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Glandular hypospadias, Diarrhea, Shawl scrotum, Recurrent respiratory inf...	ORPHA:2575
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Lymphopenia, Monocytopenia, Monocytosis, Neutropenia	ORPHA:2688
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Hepatomegaly, Diarrhea, Recurrent bronchitis, Impaired T cell function, B...	OMIM:607594
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Leber Congenital Amaurosis 19	Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:618513
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Gait ataxia, Vocal cord paresis, Basal lamina onion bulb formation, Decreased number of periphera...	OMIM:614895
Immunodeficiency 16	Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia	OMIM:615593
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count, Weight loss	ORPHA:100024
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Diarrhea, Increased circulating IgE level, Lack of T cell function, Anti-...	ORPHA:277
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Pancreatitis, Vomiting, Recurrent upper respiratory tract infections	OMIM:620137
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Glomerulonephritis	OMIM:247800
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Failure to thrive, Neutrophilia, ...	OMIM:226990
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abnormal gastric mucosa morphology, Constipati...	ORPHA:263665
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Recurrent pneumonia, Reduced sperm motility, Splenomegaly...	OMIM:602271
Bronchiolitis Obliterans	Pneumonia, Respiratory tract infection, Bronchiectasis, Autoimmunity, Bronchiolitis obliterans	ORPHA:1303
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Neoplasm of the tongue, Bone marrow hypocellularity, Recurr...	ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Decreased proporti...	ORPHA:169160
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati...	OMIM:162500
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenom...	OMIM:614480
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig...	OMIM:613830
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ...	ORPHA:66661
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Tracheobronchomegaly	Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:275300
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emph...	OMIM:613490
Bothnia Retinal Dystrophy	Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f...	ORPHA:85128
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Babinski sign, Hypertonia, Lower limb spasticity, Spasticity, Frequent falls, Gait...	OMIM:614877
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Hypothyroidism, Hypogonadism, Retinal dege...	ORPHA:3363
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Chronic diarrhea, Elevated circulating alanine aminotransferase conce...	OMIM:618805
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Decrea...	ORPHA:275
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Infertility, Recurrent sinusitis, Bronchiectasis, Immotile sperm	OMIM:618449
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Immunodeficiency 15A	Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi...	OMIM:618204
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Chronic pancreatitis, Fasciculations, Elevated circulating creatine kinase concentr...	OMIM:610717
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph...	OMIM:613812
Oliver-Mcfarlane Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Smal...	OMIM:275400
Cowden Syndrome 5	Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Hamartomatous polyposis...	OMIM:615108
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Recurrent otitis media, Microcephalic sperm head, Abnorma...	OMIM:301101
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Glycogen Storage Disease Ic	Delayed puberty, Hepatomegaly, Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflam...	OMIM:232240
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Sclerosing ch...	ORPHA:562639
Trimethylaminuria	Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Microscopic Polyangiitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pancreatitis, Diarrhea, Arthritis, Ski...	ORPHA:727
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski...	ORPHA:572
Cinca Syndrome	Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Uv...	OMIM:607115
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Gastritis, Gastrointestina...	ORPHA:809
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Peripher...	ORPHA:280234
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Hepatomegaly, Arthritis, Decreased circulating antibody level, Abnormal i...	ORPHA:397596
Combined Immunodeficiency, X-Linked	Recurrent bronchitis, Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia	OMIM:312863
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Whim Syndrome	Severe periodontitis, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal ne...	ORPHA:51636
Liberfarb Syndrome	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin...	OMIM:618889
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Hypertrophi...	OMIM:601098
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Cowden Syndrome 6	Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Hamartomatous polyposis...	OMIM:615109
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Decreased lymphocyte apoptosis, Anti-smooth muscle antibody positivity, Increased c...	OMIM:601859
Neuropathy, Hereditary Motor And Sensory, Russe Type	Peripheral hypomyelination, Axonal regeneration, Decreased number of large peripheral myelinated ...	OMIM:605285
Juvenile Arthritis	Skin rash, Thrombocytosis, Antinuclear antibody positivity, Leukocytosis	OMIM:618795
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy	OMIM:180020
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Lattice retinal degeneration, Rhegmatogenous retinal detachment	OMIM:619248
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Elevated circulating...	ORPHA:69663
Ciliary Dyskinesia, Primary, 33	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron...	OMIM:616726
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Babinski sign, Hypertonia, Decreased sensory nerve conduction velocity, Spasticity...	OMIM:609260
Wolman Disease	Hepatomegaly, Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, S...	OMIM:620151
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Abnormality of extrapyramidal motor function, Chorea, Spasticity, Rigidity, Dystonia, Ataxia, Par...	OMIM:617672
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr...	OMIM:603471
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B-cell lymp...	ORPHA:86893
Vitreoretinopathy, Neovascular Inflammatory	Uveitis	OMIM:193235
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Babinski sign, Decreased compound muscle action potential amplitude, Frequent falls, Hand tremor,...	OMIM:618279
Igg4-Related Submandibular Gland Disease	Prostatitis, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morphology, Siala...	ORPHA:449432
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Decreased lacrimation, Inflammatory abnormality of the e...	ORPHA:39812
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Malar rash, N...	OMIM:603909
Autoimmune Disease, Susceptibility To, 1	Hashimoto thyroiditis	OMIM:607836
Muckle-Wells Syndrome	Delayed puberty, Hepatomegaly, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis,...	ORPHA:575
Hydroa Vacciniforme	Epiphora, Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermati...	ORPHA:330058
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis	OMIM:617044
Keratoendotheliitis Fugax Hereditaria	Keratitis, Epiphora	OMIM:148200
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Otitis media	OMIM:618781
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
X-Linked Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Chronic diarrhea, Glossoptosis, Sinusitis, Abnormal l...	ORPHA:47
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Optic disc hypoplasia, Aspiration pneumonia	OMIM:609528
Granulomatosis With Polyangiitis	Chronic otitis media, Pleuritis, Localized pulmonary hemorrhage, Episcleritis, Sinusitis, Elevate...	OMIM:608710
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Vocal cord paresis, Decreased number of peripher...	OMIM:607706
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Alacrima, Impotence, Gastroesophageal reflux	OMIM:608088
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Arthritis, Rheumatoid arthritis, Antinuclear antibody positivity, Autoimmuni...	ORPHA:85410
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Cholangi...	OMIM:209920
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy	OMIM:610381
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Autosomal Agammaglobulinemia	Chronic otitis media, Diarrhea, Arthritis, Skin rash, High palate, Sinusitis, Failure to thrive, ...	ORPHA:33110
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Inflammation of...	OMIM:266600
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Ciliary Dyskinesia, Primary, 21	Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis	OMIM:615294
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Glycerol Kinase Deficiency	Chronic pancreatitis, Episodic vomiting, Vomiting, Nausea, Adrenocortical hypoplasia, Small for g...	OMIM:307030
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral...	DECIPHER:59
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hypohidrosis, Recurrent respiratory infections, Hepatitis	ORPHA:363523
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Emphysema, Inflammatory abnormality of the eye, Diarrhea, Arthritis, Skin rash, Ple...	ORPHA:36412
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulatin...	OMIM:304790
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased compound muscle action potential amplitude, Fasciculations, Foot osteomyelitis, Decreas...	OMIM:600882
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Retinal arterial occlusion, Acute infectious pneumonia,...	ORPHA:73263
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Leukopenia, Lymphopeni...	ORPHA:289390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Abnormal intestine ...	ORPHA:391487
Familial Cold Autoinflammatory Syndrome 3	Recurrent otitis media, Hashimoto thyroiditis, Antinuclear antibody positivity, Recurrent sinopul...	OMIM:614468
Central Areolar Choroidal Dystrophy	Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse...	ORPHA:75377
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmune antibody positivity, Weight loss, Systemic lupus erythematosus, ...	ORPHA:411593
Celiac Disease, Susceptibility To, 1	Delayed puberty, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Thyroiditis, Diarrhea, E...	OMIM:212750
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Immunodeficiency 97 With Autoinflammation	Increased circulating lactate dehydrogenase concentration, Granuloma, Splenomegaly, Lymphopenia, ...	OMIM:619802
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619386
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hypohidrosis, Recurrent skin infections, Decreased lacrimation, Gastrointestinal dysmotility	OMIM:616488
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Vomiting, Nausea, Pancreatic ca...	ORPHA:103918
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Skin rash, Thrombocytopenia, S...	OMIM:603552
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Cholestasis, Failure to thrive, Splenomegaly, Neoplasm	ORPHA:172
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Hepatomegaly, Pancreatitis, Chorea, Hemiplegia/hemiparesis, Dystonia, Choreoathetosis	ORPHA:289916
Reticular Dysgenesis	Chronic otitis media, Diarrhea, Skin rash, Decreased circulating antibody level, Failure to thriv...	ORPHA:33355
Ciliary Dyskinesia, Primary, 39	Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections	OMIM:618254
Neutral Lipid Storage Myopathy	Hepatomegaly, Chronic pancreatitis, Fasciculations, Diabetes mellitus, Abnormal circulating creat...	ORPHA:98908
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Pleural effusion, Exocrine pancreatic insuffici...	OMIM:167800
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Antineutrophil antibod...	ORPHA:464370
Nocardiosis	Pericarditis, Thyroiditis, Chorioretinitis, Weight loss, Conjunctivitis, Pneumonia, Scleritis, Cu...	ORPHA:31204
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:158057
Retinitis Pigmentosa 33	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:610359
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Babinski sign, Decreased nerve conduction velocity, Spastic tetraparesis, Gait ataxia, CNS demyel...	OMIM:249900
Glut1 Deficiency Syndrome 1	Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo...	OMIM:606777
Immunodeficiency 11A	Pneumocystis jirovecii pneumonia, Decreased circulating antibody level, Agammaglobulinemia, Reduc...	OMIM:615206
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Inflammatory a...	ORPHA:179
Immunodeficiency 19	Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, T ly...	OMIM:615617
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Hypertrophic nerve changes, Tongue fasciculations, P...	OMIM:145900
Peripheral Cone Dystrophy	Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor	OMIM:609021
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hodgkin lymphoma, Recurrent sinusitis, Splenomegaly, Bronchiectasis, Generalized ly...	OMIM:620282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf...	OMIM:618987
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Bronch...	OMIM:618986
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Babinski sign, Spasticity, Symmetric peripheral demyelination, Autonomic erectile dysfunction, Bo...	OMIM:169500
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Pneumonia, Recurrent otitis media, Male infertility, Chronic rhinitis, Recu...	OMIM:612444
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Weight loss, Hepatomegaly	ORPHA:79238
Galactosemia Iii	Jaundice, Hepatomegaly, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230350
Igg4-Related Pachymeningitis	Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Nephritis, Increased circulating IgG4 level, D...	ORPHA:449427
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio...	OMIM:212050
Cowden Syndrome 1	Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Hamartomatous polyposis...	OMIM:158350
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia...	ORPHA:231401
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Vitreous floaters, Posterior uveitis, Retinal pigment epitheli...	OMIM:605808
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Abnormal...	ORPHA:1876
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Thrombocytosis, Anoperineal fistula, Lymphocytosis, Chr...	OMIM:301074
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly	ORPHA:79312
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Pleural effusion, Lymphadeni...	OMIM:618935
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Persistent CMV viremia, Increased circulatin...	OMIM:618495
Ciliary Dyskinesia, Primary, 46	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:619436
Thyroid Lymphoma	Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Dysphagia, Goiter	ORPHA:97285
Inflammatory Bowel Disease 11	Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss	OMIM:191390
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Recurrent bronchopulmonary infections	ORPHA:85334
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent candida infections, Anti-smooth muscle antibody positivity...	OMIM:610163
Krabbe Disease	Optic atrophy, Hypertonia, Decreased nerve conduction velocity, Decerebrate rigidity, Progressive...	OMIM:245200
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa...	OMIM:224100
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocytopenia, Recu...	OMIM:150550
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia...	ORPHA:71277
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Pleuritis, Myositis, Arthritis, Diarrhea,...	ORPHA:3452
Retinitis Pigmentosa 11	Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore...	OMIM:600138
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Leukocyto...	OMIM:620565
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Kilquist Syndrome	Gastroesophageal reflux, Midgut malrotation, Intestinal malrotation, Hypoplasia of teeth, Wide mo...	OMIM:619080
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Abnormal immunoglobulin level, Recurrent bacterial infections, Increased ...	ORPHA:98813
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Frequent...	ORPHA:101097
Metachromatic Leukodystrophy	Optic atrophy, Babinski sign, Decreased nerve conduction velocity, Gallbladder dysfunction, Chore...	OMIM:250100
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Recessive Mitochondrial Ataxia Syndrome	Sensory axonal neuropathy, Hashimoto thyroiditis, Abnormality of central motor conduction, Ataxia...	ORPHA:94125
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Crohn's disease, Skin rash, Bronchitis, Splenomegaly, Decreased circulating total...	OMIM:619381
Immunoglobulin Kappa Light Chain Deficiency	Recurrent infections, Chronic diarrhea, Diarrhea, Absent circulating immunoglobulin kappa chain, ...	OMIM:614102
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Jaundice, Pancreatic calcification, Recurr...	ORPHA:676
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Increased circulating antibo...	OMIM:181000
Alopecia Areata 1	Autoimmunity	OMIM:104000
Charcot-Marie-Tooth Disease, Type 4A	Decreased sensory nerve conduction velocity, Axonal degeneration, Hypertrophic nerve changes, CNS...	OMIM:214400
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Increased inflam...	OMIM:209950
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, N...	OMIM:619220
Selective Igm Deficiency	Chronic diarrhea, Crohn's disease, Recurrent vulvovaginal candidiasis, Decreased specific antibod...	ORPHA:331235
Immunodeficiency 62	Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib...	OMIM:618459
Aids Wasting Syndrome	Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration	ORPHA:90081
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Rheumatoid factor positive, Inflammation of the large intestine, Sacroiliac a...	OMIM:106300
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Increased circulating IgE level, Hypoplasia of the thymus, Redu...	OMIM:617241
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, Paralysis, G...	ORPHA:83601
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Decreased acid sphingomyeli...	OMIM:607616
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Recurrent pancreatitis, Parathyroid adenoma, Hyperparathyroidism, Pancreat...	OMIM:145001
C1Q Deficiency 2	Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Ar...	OMIM:620321
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Male infertility, Recurrent sinusitis, Bronchiectasis, Recurrent respirator...	OMIM:300991
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ...	OMIM:615615
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent upper respiratory tract...	OMIM:619446
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Recurrent Staphylococcus aureus infections, Skin rash, Dysphagia, Recurrent cutan...	OMIM:147060
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot...	OMIM:118200
Psoriasis-Related Juvenile Idiopathic Arthritis	Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Antinuclear anti...	ORPHA:85436
Shigellosis	Myocarditis, Acute colitis, Arthritis, Splenic abscess, Intestinal perforation, Cholestasis, Bloo...	ORPHA:810
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Spastic Paraplegia With Neuropathy And Poikiloderma	Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb formation, Demyelinating motor n...	OMIM:182815
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra...	ORPHA:75564
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology, Achalasia, Alacrima	OMIM:300858
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re...	OMIM:615139
Diabetes Mellitus, Ketosis-Prone	Autoimmunity, Beta-cell dysfunction	OMIM:612227
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Hepatomegaly, Pancreatitis, Paraparesis, Ataxia, Choreoathetosis, Tetraparesis	ORPHA:27
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis	ORPHA:231445
Optic Atrophy 6	Optic atrophy, Retinal degeneration	OMIM:258500
Systemic Capillary Leak Syndrome	Myocarditis, Pulmonary edema, Pancreatitis, Diarrhea, Pleural effusion, Pericarditis, Weight loss	ORPHA:188
Malt Lymphoma	Posterior uveitis, Constipation, Hyperhidrosis, Abnormality of the thyroid gland, Weight loss, Re...	ORPHA:52417
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Giant cell hepatitis, Elevated circulating hepatic transaminase concent...	OMIM:214950
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Chronic rhinitis, Recurrent sinusitis, R...	OMIM:620438
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis	OMIM:620032
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Recurrent upper r...	OMIM:608184
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig...	OMIM:608106
Familial Adenomatous Polyposis	Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duodenal adenocarcinom...	ORPHA:733
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Wolman Disease	Steatorrhea, Hepatomegaly, Cachexia, Esophageal varix, Hepatic failure, Splenomegaly, Adrenal cal...	ORPHA:75233
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy	OMIM:617879
Scrub Typhus	Myocarditis, Skin rash, Hyperhidrosis, Splenomegaly, Anterior uveitis, Infectious encephalitis	ORPHA:83317
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Charcot-Marie-Tooth Disease, Type 4K	Dystonia, Ataxia, Peripheral demyelination, Axonal loss	OMIM:616684
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Hypergonadotropic hypogon...	OMIM:604168
Bloom Syndrome	Esophageal neoplasm, Cheilitis, Gastroesophageal reflux, Stomach cancer, Bronchitis, Skin rash, D...	ORPHA:125
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent otitis media, Panniculitis, Increased circulating antibody level, Thick lower lip vermi...	OMIM:256040
Sjogren Syndrome	Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis, Autoimmunity, Tubulointerstitial ne...	OMIM:270150
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Spinocerebellar Ataxia Type 43	Limb ataxia, Progressive cerebellar ataxia, Peripheral axonal neuropathy, Cogwheel rigidity, Gait...	ORPHA:497764
Immunodeficiency 115 With Autoinflammation	Intermittent diarrhea, Intestinal lymphangiectasia, Partial absence of specific antibody response...	OMIM:620632
Cach Syndrome	Limb ataxia, Optic atrophy, Pancreatitis, Truncal ataxia, Spasticity, Optic neuritis, Vomiting, H...	ORPHA:135
Ciliary Dyskinesia, Primary, 23	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi...	OMIM:615451
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	High palate, Tooth agenesis, Cleft palate, Lacrimation abnormality, Hypogonadotropic hypogonadism	ORPHA:1135
Bardet-Biedl Syndrome 4	External genital hypoplasia, Obesity, Hypogonadism, Retinal degeneration, Cryptorchidism, Rod-con...	OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Steatorrhea, Rectal prolapse, Diarrhea, ...	OMIM:219700
Juvenile Xanthogranuloma	Iritis, Myeloproliferative disorder, Blepharitis, Abnormal oral mucosa morphology, Asymmetry of i...	ORPHA:158000
Cernunnos-Xlf Deficiency	Autoimmunity, Recurrent viral infections, Decreased circulating antibody level, Recurrent bacteri...	ORPHA:169079
Chilblain Lupus	Increased circulating antibody level, Antiphospholipid antibody positivity, Malar rash, Skin rash...	ORPHA:90280
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
Q Fever	Elevated circulating hepatic transaminase concentration, Pericarditis, Splenomegaly, Cholecystiti...	ORPHA:781
Microlissencephaly	Pneumonia	ORPHA:1083
Usher Syndrome, Type Iv	Retinal degeneration, Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluoresc...	OMIM:618144
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Cinca Syndrome	Anemia, Lymphadenopathy, Inflammatory abnormality of the eye, Leukocytosis, Abnormal granulocyte ...	ORPHA:1451
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Comedonal acne, Peripheral retinal atrophy, Retinal dystrophy	OMIM:615147
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Antiphospholipid Syndrome, Familial	Iritis, Lupus anticoagulant, Retinal detachment, Retinal vasculitis, Central retinal artery occlu...	OMIM:107320
Isolated Agammaglobulinemia	Pneumonia, Inflammatory abnormality of the eye, Diarrhea, Arthritis, Skin rash, Sinusitis, Failur...	ORPHA:229717
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial...	OMIM:601596
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber...	OMIM:118210
Brucellosis	Bronchitis, Pericarditis, Hyperhidrosis, Splenomegaly, Anterior uveitis, Myocarditis, Increased c...	ORPHA:1304
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Facial diplegia, Vocal cord paralysis, Oral-pharyngeal dysphagia	OMIM:616287
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Optic nerve compression, Myositis, Thyroiditis, Xerostomia, A...	ORPHA:79078
Congenital Syphilis	Myocarditis, Pancreatitis, Diarrhea, Chorioretinitis, High palate, Synovitis, Prolonged neonatal ...	ORPHA:499009
Retinitis Pigmentosa 73	Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E...	OMIM:616544
Immunodeficiency 66	Recurrent skin infections, Pustule, Defective T cell proliferation	OMIM:618847
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Protein-losing enteropathy, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Systemic Lupus Erythematosus 17	Myelitis, Malar rash, Optic neuritis, Anti-aquaporin 4 antibody positivity, Lymphopenia, Antinucl...	OMIM:301080
Immunodeficiency 116	Bronchiectasis, Recurrent respiratory infections	OMIM:608957
Ciliary Dyskinesia, Primary, 3	Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis	OMIM:608644
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Abnormality of the gastrointestinal tract, Elevated circulating hepatic transaminase c...	ORPHA:298
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Failure to thrive, Absent circulating B cells...	OMIM:613501
Retinitis Pigmentosa 81	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,...	OMIM:617871
Cogan Syndrome	Anemia, Thrombocytosis, Inflammatory abnormality of the eye, Leukocytosis, Episcleritis, Keratiti...	ORPHA:1467
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic he...	OMIM:614602
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ...	OMIM:620378
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Myelodysplasia	ORPHA:721
Myasthenia Gravis	Systemic lupus erythematosus, Myositis, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid...	ORPHA:589
Sandhoff Disease	Failure to thrive, Hepatomegaly, Splenomegaly	ORPHA:796
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Recurrent pancreatitis, Lipemia reti...	OMIM:615947
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Cockayne Syndrome Type 2	Hypoplasia of the primary teeth, Male hypogonadism, Enamel hypoplasia, Widely spaced primary teet...	ORPHA:90322
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Systemic Lupus Erythematosus	Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocyto...	OMIM:152700
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Lymphoma, Ascites, Splenomegaly	ORPHA:100025
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis	OMIM:615872
Ciliary Dyskinesia, Primary, 27	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615504
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Babinski sign, Lower limb spasticity, Peripheral axonal neuropathy, Knee clonus, S...	OMIM:615035
Autosomal Spastic Paraplegia Type 58	Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spasticity, Tremor, Tituba...	ORPHA:397946
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Decreased mot...	OMIM:118220
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Erythroderma, Cirrhosis, Decreased lacrimation, Conjunctivitis	OMIM:242150
Generalized Pustular Psoriasis	Cheilitis, Arthritis, Palmoplantar pustulosis, Pustule, Geographic tongue, Obesity, Erythroderma,...	ORPHA:247353
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R...	OMIM:613731
Crimean-Congo Hemorrhagic Fever	Hematemesis, Hyperhidrosis, Leukopenia, Splenomegaly, Erythema nodosum, Cholecystitis, Adrenal in...	ORPHA:99827
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration, Gastroesophageal reflux	OMIM:617173
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Limb ataxia, Pancreatitis, Oculomotor apraxia, Lower limb spasticity, Truncal ataxia, Delayed men...	ORPHA:412057
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Increased circulating IgE level, Recurrent bacterial skin infections, Atopi...	ORPHA:217390
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination, Axonal degeneration/regeneration, Onion bulb formation, Segme...	OMIM:606483
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, ...	ORPHA:435651
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Tremor, Vocal cord paralysis, Abnormal motor nerve conduction velocity	OMIM:158580
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Recurrent pharyngitis, Pleuritis, Myositis, Arthritis, Skin rash, Diarrhe...	ORPHA:32960
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone...	ORPHA:100083
Unclassified Myelodysplastic Syndrome	Autoimmunity, Leukocytosis, Acute myeloid leukemia, Bone marrow hypocellularity	ORPHA:98827
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Reduced natural killer cell activity, Eczematoid dermatitis	OMIM:614493
Aspergillosis	Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Abnormal esophagus morphology, Bronchi...	ORPHA:1163
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Allergic rhinitis, Increased ...	OMIM:243700
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Dystonia, Peripheral demyelination	OMIM:250850
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Hypertonia, Decreased number of peripheral myelinated nerve fibers, Clumsiness, Tetraparesis, Slu...	ORPHA:2386
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Diarrhea, Decreased circulating antibody level, High palate, Decreased circulating IgG level, Rec...	OMIM:614069
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Constipation, Slender build, Weight loss, Gastrointestin...	OMIM:613662
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Autoimmune hemolytic anemia, Rectal atresia, Intestinal at...	OMIM:243150
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Abnormal T cell co...	OMIM:613493
Acute Lung Injury	Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr...	ORPHA:178320
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Diarrhea, Recurrent bronchitis, Decreased circulating IgG level, Recurren...	OMIM:612692
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hip osteoarthritis, Lymphadenopathy, Knee osteoarthritis, Arthritis, Uveitis, Synovitis, ...	ORPHA:85408
Retinitis Pigmentosa 38	Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Macular atrophy	OMIM:267760
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Motor conduction block, ...	ORPHA:2932
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis, Diabetic ketoacidosis	ORPHA:70578
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Babinski sign, Sensory axonal neuropathy, Elevated circulating creatine kinase concentration, Dec...	OMIM:620542
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract infections...	OMIM:615577
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Macular degeneration, Subretinal deposits, Choriocapillaris atrophy	OMIM:601553
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Diarrhea 12, With Microvillus Atrophy	Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Respiratory tract infe...	OMIM:619445
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomeg...	ORPHA:545
Majeed Syndrome	Acne, Hepatomegaly, Cachexia, Synovitis, Failure to thrive, Pustule, Inflammatory abnormality of ...	ORPHA:77297
Keratitis, Hereditary	Keratitis	OMIM:148190
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Recurrent pharyngitis, Diarrhea, Pericarditis, Abnormal lung...	ORPHA:549
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Hepatosplenomeg...	OMIM:613101
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Lacrimoauriculodentodigital Syndrome 3	Widely spaced teeth, Enamel hypoplasia, Carious teeth, Alacrima, Xerostomia	OMIM:620193
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Recurrent otitis media, Recurrent lower respiratory tract infections, Pan...	OMIM:600802
Cone-Rod Dystrophy 24	Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse...	OMIM:620342
Senior-Loken Syndrome 9	Retinal dystrophy, Macular degeneration, Cholestasis, Obesity, Hypogonadism, Hepatic fibrosis, Ro...	OMIM:616629
Pfapa Syndrome	Hepatomegaly, Recurrent pharyngitis, Arthritis, Splenomegaly, Weight loss, Infectious encephalitis	ORPHA:42642
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Microdontia, Carious teeth, Conjunctivitis, Hypodontia, Alacrima	OMIM:620192
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,...	OMIM:603554
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Chronic diarrhea, Increased circulating IgE level, Eczematoid dermatitis,...	OMIM:618523
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgE, Crohn's disease, Chronic diarrhea, Decreased circulating IgG level, Re...	OMIM:618394
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Cholesteryl Ester Storage Disease	Increased circulating lactate dehydrogenase concentration, Leukopenia, Splenomegaly, Acute hepati...	OMIM:278000
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal peritoneum morphology, Testicu...	ORPHA:83469
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling	OMIM:600977
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Panniculitis, Hypoplasia of the thy...	OMIM:612541
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr...	OMIM:620430
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia, Nonprogressive cerebellar ataxia, Dystonia, Choreoathetosis, ...	ORPHA:431361
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology	ORPHA:2978
Immunodeficiency 102	Sepsis, Increased circulating interleukin 6 concentration, Recurrent lower respiratory tract infe...	OMIM:301082
Pseudomyxoma Peritonei	Intestinal obstruction, Abnormal peritoneum morphology, Constipation, Inflammation of the large i...	ORPHA:26790
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Emphysema, Chronic diarrhea, Recurrent bronchopulmona...	OMIM:242700
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography...	ORPHA:90003
Stargardt Disease	Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions...	ORPHA:827
Behcet Syndrome	Iritis, Arthritis, Chorioretinitis, Epididymitis, Iridocyclitis, Erythema nodosum	OMIM:109650
Whim Syndrome 1	Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody level, Recurrent ...	OMIM:193670
Blau Syndrome	Iritis, Arthritis, Synovitis, Eczematoid dermatitis, Pericarditis, Nongranulomatous uveitis, Eryt...	OMIM:186580
Hereditary Butyrylcholinesterase Deficiency	Paralysis, Abnormality of the liver	ORPHA:132
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Ciliary Dyskinesia, Primary, 45	Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis	OMIM:618801
Moynahan Syndrome	Cachexia, Hypogonadism	ORPHA:2574
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima, Abnormality of the dentition	OMIM:240000
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Erysi...	OMIM:214900
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphoma, Splenomegaly	ORPHA:37748
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration, Reduced tissue tripeptidyl peptidase 1 activity	OMIM:204500
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema, Weight loss	ORPHA:1164
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis, Peripheral axonal neuropathy	OMIM:613710
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Lacrimation abnormality, Hypohidrosis	ORPHA:1882
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C...	OMIM:610755
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Recurrent otitis media	OMIM:616941
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections...	OMIM:614878
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Foot osteomyelitis, Tongu...	OMIM:162400
Lethal Congenital Contracture Syndrome 7	Paralysis, Facial diplegia, Oral-pharyngeal dysphagia	OMIM:616286
Cockayne Syndrome Type 1	Hypoplasia of the primary teeth, Hepatomegaly, Male hypogonadism, Decreased lacrimation, Diarrhea...	ORPHA:90321
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Gastroesophageal reflux, Chronic diarrhea, Autoimmunity, Portal hypertension, Hypot...	OMIM:613385
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port...	ORPHA:824
Late-Onset Isolated Acth Deficiency	Premature ovarian insufficiency, Hypoparathyroidism, Decreased circulating ACTH concentration, Di...	ORPHA:199299
Bardet-Biedl Syndrome 2	External genital hypoplasia, Obesity, Hypogonadism, Retinal degeneration, Diabetes mellitus, Rod-...	OMIM:615981
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dystonia, Dysphagia, Paralysis, Axonal loss	OMIM:300857
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess...	OMIM:619007
Morm Syndrome	Retinal atrophy, Micropenis, Truncal obesity, Retinal dystrophy	ORPHA:75858
Charcot-Marie-Tooth Disease, Type 4J	Peripheral hypomyelination, Decreased nerve conduction velocity, Frequent falls, Decreased motor ...	OMIM:611228
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Recurrent lower respiratory tract infections, Increased circulating an...	OMIM:615846
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Recurrent aphthous stomatitis, Arthritis, Skin rash, Leukocytosis, Splenomegaly,...	OMIM:611762
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Cachexia, Vomiting, Failure to thrive, Weight loss	OMIM:612075
Porphyria, Acute Hepatic	Paralysis, Vomiting, Respiratory paralysis	OMIM:612740
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Chro...	ORPHA:3453
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Interface hepatitis, Elevated serum transaminases during infections...	OMIM:611182
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Riboflavin Transporter Deficiency	Diabetes insipidus, Abnormality of macular pigmentation, Cachexia, Dysphagia, Hypogonadism, Optic...	ORPHA:97229
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss...	ORPHA:79127
Bullous Pemphigoid	Anti-BP230 antibody positivity, Eczematoid dermatitis, Anti-BP180 antibody positivity, Weight los...	ORPHA:703
Macular Dystrophy, Vitelliform, 3	Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula...	OMIM:608161
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel...	OMIM:605253
Isaacs Syndrome	Hyperhidrosis, Weight loss	ORPHA:84142
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo...	OMIM:301078
Familial Chylomicronemia Syndrome	Perianal abscess, Jaundice, Acute pancreatitis, Decreased body weight, Failure to thrive, Hepatos...	ORPHA:444490
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Gastritis, Intractable diarrhea, Panhypogammaglobulinemia, Villous atrop...	ORPHA:84064
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Periodontitis, Increased hep...	ORPHA:79259
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin...	OMIM:604571
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, D...	ORPHA:79083
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Diarrhea, Pheochromocytoma, Neoplasm of the lung, Primary h...	ORPHA:1332
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Steatorrhea, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asplenia, Hypoth...	OMIM:269200
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Villous atrophy, Necrotizing enterocolitis, ...	OMIM:619573
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Immunodeficiency 40	Chronic oral candidiasis, Intermittent diarrhea, Recurrent otitis media, Macrovesicular hepatic s...	OMIM:616433
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom...	OMIM:613313
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Antinuclear antibody positivity, Abnormal immunoglobulin level	ORPHA:90159
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Decreased lymphocyte proliferation in response to mitogen, Recurrent...	ORPHA:331206
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis, Hepati...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Pneumonia	OMIM:266265
Familial Hemophagocytic Lymphohistiocytosis	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, M...	ORPHA:540
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical dis...	OMIM:610475
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Episodic vomiting, Acute hepatitis, Chorioretinal atrophy...	OMIM:238970
Horner Syndrome, Congenital	Paralysis, Congenital Horner syndrome	OMIM:143000
Relapsing Polychondritis	Myocarditis, Atelectasis, Recurrent aphthous stomatitis, Anteriorly placed anus, Inflammatory abn...	ORPHA:728
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Alg6-Cdg	Jaundice, Protein-losing enteropathy, Abnormal circulating enzyme concentration or activity, Fail...	ORPHA:79320
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Decreased number ...	OMIM:608673
Spinocerebellar Ataxia Type 25	Babinski sign, Spastic dysarthria, Progressive cerebellar ataxia, Gait ataxia, Vomiting, Decrease...	ORPHA:101111
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Hepatitis, Adrenocorticotropin...	ORPHA:199296
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:615085
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Neoplasm of the skin, L...	ORPHA:2584
Bestrophinopathy, Autosomal Recessive	Retinal flecks, Retinal pigment epithelial atrophy	OMIM:611809
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:311070
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy	OMIM:204200
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Small for gestational age, Aspiration pneumonia	OMIM:619057
Localized Scleroderma	Gastroesophageal reflux, Arthritis, Esophagitis, Short dental root, Abnormality of the dentition,...	ORPHA:90289
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre...	OMIM:618699
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Failure to thrive, Exocrine p...	OMIM:612714
Marsili Syndrome	Hypohidrosis, Lacrimation abnormality	OMIM:147430
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Peripheral hypomyelination, Cerebral dysmyelination, Short-segment aganglionic megacolon, Demyeli...	OMIM:609136
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Onion bulb formation, Peripheral demyelination	OMIM:615185
Propionic Acidemia	Hepatomegaly, Pancreatitis, Propionyl-CoA carboxylase deficiency, Eczematoid dermatitis, Vomiting...	OMIM:606054
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, Anti-glutamic acid decarboxylase antibody positi...	OMIM:620044
Bardet-Biedl Syndrome 21	Retinal thinning, Elevated circulating hepatic transaminase concentration, Hyperautofluorescent m...	OMIM:617406
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Failure to thriv...	OMIM:602450
Retinitis Pigmentosa 19	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:601718
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota...	ORPHA:98848
Adult Krabbe Disease	Hoffmann sign, Babinski sign, Delayed brainstem auditory evoked response conduction time, Spastic...	ORPHA:206448
Adenohypophysitis	Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn...	ORPHA:95512
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decreased circulating total IgM,...	OMIM:613500
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Crohn's disease, Abnormal T cell count, In...	OMIM:615767
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Babinski sign, Peripheral axonal degeneration, Axonal degeneration, Incoordination, Tremor, Frequ...	OMIM:302800
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Impaired oropharyngeal swallow response, Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambi...	OMIM:617092
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated alkaline phosphatase of bone origin,...	OMIM:616828
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Reduced natural killer cell count...	OMIM:609981
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Ovarian cyst, Abnormal endocrine physiology, Increased circu...	ORPHA:562
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Peripheral axonal neuropathy, Demyelinating peri...	ORPHA:99953
Transketolase Deficiency	Hepatomegaly, Seborrheic dermatitis, Conjunctivitis, Type I diabetes mellitus, Uveitis	ORPHA:488618
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decr...	OMIM:609311
Retinitis Pigmentosa 88	Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation...	OMIM:618826
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:615505
Bietti Crystalline Dystrophy	Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc...	ORPHA:41751
Achromatopsia	Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ...	ORPHA:49382
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Increased circulating antibody level, Melena, Diarrhea, Acute pancre...	ORPHA:319218
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Decreased lacrimation, Microcolon, Hypohidrosis, Constipatio...	ORPHA:163746
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Variegate Porphyria	Paralysis, Vomiting, Constipation	OMIM:176200
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Lymphoma, Bone marrow hypocellularity, Splenomegaly, We...	ORPHA:391
Flynn-Aird Syndrome	Cachexia, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality of the thyroid gl...	ORPHA:2047
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M...	ORPHA:3226
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Apraxia, Spasticity, Myoclonus, Peripheral demyelination, Axonal loss	OMIM:221770
Central Retinal Vein Occlusion	Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,...	ORPHA:411527
Apolipoprotein C-Ii Deficiency	Lipemia retinalis, Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Recurrent gastroenteritis, Bronchiectasis	OMIM:618648
Caroli Syndrome	Hematemesis, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Pancre...	ORPHA:480520
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Panhypophysitis	Impotence, Abnormal posterior pituitary morphogenesis, Decreased circulating cortisol level, Decr...	ORPHA:95513
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Chronic diarrhea, Rectal abscess, Decreased cir...	OMIM:601495
Sarcoidosis	Enlarged lacrimal glands, Anemia, Lymphadenopathy, Maculopapular exanthema, Abnormal lymph node m...	ORPHA:797
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Chronic diarrhe...	OMIM:619652
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Abnormality of extrapyramidal motor function, Peripheral axonal neuropathy, Exagge...	ORPHA:320406
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, Bilateral cryptorchidism, ...	OMIM:619471
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Gastrointestinal atresia, Intestinal atresia, Rectal abscess, Perito...	ORPHA:436252
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy, Bronchiectasis	OMIM:616632
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Weight loss, Pulmonary fibrosis, Lymphocytic interstitial pneumonia...	ORPHA:133
Felty Syndrome	Chronic otitis media, Hepatomegaly, Recurrent pharyngitis, Pleuritis, Arthritis, Synovitis, Sinus...	ORPHA:47612
Peritoneal Cystic Mesothelioma	Dyspareunia, Constipation, Menorrhagia, Weight loss, Peritonitis, Metrorrhagia	ORPHA:168816
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Intermediate Uveitis	Optic neuritis, Anterior uveitis, Psoriasiform dermatitis, Posterior synechiae of the anterior ch...	ORPHA:279914
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Failure to thrive, Decreased response to growth hormone stimulation test, Lymphocytic interstitia...	OMIM:245590
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop...	OMIM:613750
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Tremor, Peri...	OMIM:613239
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul...	OMIM:608323
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ...	ORPHA:521219
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ...	OMIM:611040
Nephronophthisis 15	Retinal degeneration, Elevated circulating hepatic transaminase concentration, Obesity	OMIM:614845
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Familial Nasal Acilia	Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Gastroesophageal reflux, Infertility, Chronic rhinitis, Recurrent pneumon...	OMIM:615482
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Ciliary Dyskinesia, Primary, 34	Male infertility, Recurrent bronchitis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Im...	OMIM:617091
Helix Syndrome	Hypohidrosis, Anhidrosis, Hyperparathyroidism, Alacrima, Xerostomia	OMIM:617671
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections	OMIM:607624
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Peripheral Primitive Neuroectodermal Tumor	Jaundice, Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm, Increased circulating lactate...	ORPHA:370348
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Diarrhea, Macroglossia, Bronchiectasis, Sinusitis, Protruding tongue, Increased circulating IgM l...	OMIM:242860
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Recurrent...	OMIM:615468
Cronkhite-Canada Syndrome	Hepatomegaly, Intestinal polyposis, Stomach cancer, Diarrhea, Cachexia, Furrowed tongue, Hamartom...	ORPHA:2930
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Reynolds Syndrome	Keratoconjunctivitis sicca, Gastroesophageal reflux, Arthritis, Skin rash, Abnormal gastric mucos...	ORPHA:779
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Pigmentary retinopathy, Aspiration pneumon...	ORPHA:79264
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n...	OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Axonal degeneration/regeneration, Dysphagia, Peripheral demyelination	OMIM:607736
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased...	OMIM:618048
Myasthenic Syndrome, Congenital, 16	Anti-acetylcholine receptor antibody positivity, Periodic paralysis	OMIM:614198
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility, Bronchiectasis, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:615434
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Dysmenorrhea, Splenomegaly, Polycystic ovaries,...	ORPHA:2348
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:131
Hypocalciuric Hypercalcemia, Familial, Type I	Pancreatitis, Parathyroid adenoma, Hyperparathyroidism	OMIM:145980
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Onion bulb formation, Decreased number of peripheral m...	OMIM:604563
Maple Syrup Urine Disease, Type Ia	Vomiting, Pancreatitis, Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured...	OMIM:248600
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr...	ORPHA:3203
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Decreased acid ceramidase activity, Arthritis, Failure to thriv...	OMIM:228000
Immunodeficiency 96	Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti...	OMIM:619774
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Immunodeficiency 58	Chronic otitis media, Seborrheic dermatitis, Chronic diarrhea, Decreased specific antibody respon...	OMIM:618131
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Macular degeneration, Retinal degeneration	OMIM:256730
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline p...	ORPHA:186
Interstitial Lung Disease 1	Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava...	OMIM:619611
Glucocorticoid Deficiency 2	Bilateral cryptorchidism, Alacrima, Recurrent pneumonia, Decreased circulating cortisol level, Ac...	OMIM:607398
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve...	OMIM:613470
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal...	ORPHA:101330
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Subcutaneous panniculitis-like T-cell lymphoma, Panniculitis, Anemia, Hemophagocytosis, Pancytope...	OMIM:618398
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent infections, Decreased circulating antibody level, Eczematoid dermatitis, Vomiting, Recu...	OMIM:617780
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Alkaptonuria	Prostatitis, Black pigment gallstones, Arthritis, Hypothyroidism, Osteoarthritis	ORPHA:56
Intellectual Disability-Alacrima-Achalasia Syndrome	Achalasia, Deep philtrum, Dysphagia, Alacrima	ORPHA:289483
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron...	OMIM:614679
Linear Iga Dermatosis	Autoimmunity, Inflammation of the large intestine	ORPHA:46488
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Hyper...	OMIM:275000
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Anti-granulocyte-macrophage colony stimula...	OMIM:610910
Rift Valley Fever	Hematemesis, Jaundice, Melena, Increased circulating IgG level, Skin rash, Increased circulating ...	ORPHA:319251
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Congenital adrenal hyperplasia	OMIM:201710
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Anti-dsDNA an...	ORPHA:1855
Pneumocystosis	Chronic oral candidiasis, Increased circulating antibody level, Acute infectious pneumonia, Pleur...	ORPHA:723
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Diarrhea, Cholestasis, Small intestin...	ORPHA:95427
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:605588
Ciliary Dyskinesia, Primary, 11	Chronic rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Recurrent respirat...	OMIM:612649
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Pancreatitis, Diarrhea, Vomiting, Failure to thrive, Tubulointerstitial nephritis	OMIM:251000
Eales Disease	Constipation, Rubeosis iridis, Anterior uveitis	ORPHA:40923
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis	OMIM:615481
Lichen Planopilaris	Abnormal intestine morphology, Hepatitis	ORPHA:525
Amoebic Keratitis	Scleritis, Iris atrophy, Anterior uveitis	ORPHA:67043
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Inflammatory abnormality ...	ORPHA:816
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Optic atrophy, Decreased body weight, Delayed puberty, Bronchiectasis	ORPHA:477814
Alacrima, Congenital, Autosomal Dominant	Alacrima, Lacrimal gland hypoplasia, Decreased lacrimation	OMIM:103420
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Arthritis, Viral hepatitis, Splenomegaly, Abnormality ...	ORPHA:91138
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Isolated Congenital Alacrima	Keratitis, Alacrima, Lacrimal gland hypoplasia, Conjunctivitis	ORPHA:91416
Tangier Disease	Hepatomegaly, Decreased circulating apolipoprotein A-I concentration, Peripheral axonal neuropath...	OMIM:205400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Hirschsprung Disease	Intestinal obstruction, Neoplasm of the thyroid gland, Aganglionic megacolon, Intestinal polyposi...	ORPHA:388
Aicardi-Goutieres Syndrome 9	Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chorioretin...	OMIM:619487
Alexander Disease Type I	Vomiting, Cachexia, Failure to thrive, Dysphagia	ORPHA:363717
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pancreatiti...	ORPHA:36426
Intestinal Dysmotility Syndrome	Diarrhea, Projectile vomiting, High palate, Decreased intestinal transit time, Failure to thrive,...	OMIM:620045
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607677
Tularemia	Pneumonia, Increased circulating antibody level, Inflammatory abnormality of the eye, Skin rash, ...	ORPHA:3392
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607731
Systemic Lupus Erythematosus, Susceptibility To, 6	Pleuritis, Malar rash, Arthritis, Pericarditis, Antinuclear antibody positivity, Systemic lupus e...	OMIM:609939
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Gastropares...	OMIM:155310
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Bronchiectasis	ORPHA:2375
Subacute Cutaneous Lupus Erythematosus	Cheilitis, Antiphospholipid antibody positivity, Anti-dsDNA antibody positivity, Malar rash, Disc...	ORPHA:163525
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Macrocytic dyserythropoietic a...	OMIM:224120
Immunodeficiency 37	Decreased circulating antibody level, Infectious encephalitis, Colitis	OMIM:616098
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Spastic Ataxia 5, Autosomal Recessive	Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Dystonia, Ataxia, Spastic ataxia, Dysphagia, ...	OMIM:614487
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Peripheral axonal neuropathy, Decreased motor nerve conduction velocity, Ataxia, Decreased number...	OMIM:607250
Frontonasal Dysplasia 2	Widely spaced teeth, Decreased lacrimation, Conical tooth, Bilateral cryptorchidism, Hypohidrosis...	OMIM:613451
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre...	OMIM:619752
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Neurotrophic Keratopathy	Diabetes mellitus, Anterior uveitis	ORPHA:137596
Rabies	Diarrhea, Vocal cord paresis, Cerebral palsy	ORPHA:770
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Infertility, Rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronc...	OMIM:615500
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Short philtrum, Hypohidrosis, Alacrima, Downturned corners of mouth, Dysphagia, Achalasia, Esopha...	OMIM:615510
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,...	OMIM:616108
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia, Onion bulb formation, Decreased numbe...	OMIM:618184
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Epithelial Recurrent Erosion Dystrophy	Epiphora	OMIM:122400
Pleural Mesothelioma	Hepatomegaly, Pleural effusion, Abnormal lung morphology, Dysphagia, Abnormal pleura morphology, ...	ORPHA:50251
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Abnormal T cell count, Abnormal B cell count, Autoimmune thrombocy...	OMIM:613496
Avian Influenza	Pneumothorax, Elevated circulating hepatic transaminase concentration, Myelitis, Diarrhea, Pleura...	ORPHA:454836
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Axonal degeneration, Fasciculations, Tetraplegia, Degeneration of anterior horn cells, Decreased ...	OMIM:604484
Citrullinemia Type Ii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreatitis, Decreased bo...	ORPHA:247585
Corneal Dystrophy, Meesmann, 2	Epiphora	OMIM:618767
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Myasthenia, Limb-Girdle, Autoimmune	Mildly elevated creatine kinase, Hashimoto thyroiditis, Thymoma, Systemic lupus erythematosus	OMIM:159400
Malignant Peritoneal Mesothelioma	Ileus, Weight loss, Peritonitis	ORPHA:168811
Neuropathy, Hereditary Sensory, Type Ie	Ataxia, Decreased number of peripheral myelinated nerve fibers, Osteomyelitis	OMIM:614116
C3 Glomerulopathy	C3 nephritic factor positivity, Recurrent infections, Paraproteinemia, Membranoproliferative glom...	ORPHA:329918
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pancreatiti...	ORPHA:537
Achalasia-Addisonianism-Alacrima Syndrome	Adrenocorticotropin receptor defect, Alacrima, Decreased circulating cortisol level, Decreased ci...	OMIM:231550
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Mildly elevated creatine kinase, Decreased motor nerve conduction velocity, Decreased number of l...	OMIM:615376
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis	ORPHA:640
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Increased ci...	OMIM:618282
L-2-Hydroxyglutaric Aciduria	Abnormality of extrapyramidal motor function, Spastic tetraparesis, Infectious encephalitis	ORPHA:79314
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe...	OMIM:617087
Immunodeficiency 22	Chronic oral candidiasis, Decreased circulating total IgM, Panniculitis, Decreased circulating Ig...	OMIM:615758
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Facial palsy, Frequent falls, Decreased motor ne...	OMIM:607684
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Reduced cystathionine beta-synthase activity in cultured fibroblasts, High palate, ...	OMIM:236200
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Autoimmunity	ORPHA:163703
Chondroectodermal Dysplasia With Night Blindness	Abnormal dental morphology, Epiphora, Hyperhidrosis, Otitis media	ORPHA:319195
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Sunct Syndrome	Episodic hyperhidrosis, Epiphora, Vomiting, Nausea, Hyperhidrosis, Increased tear production	ORPHA:57145
Sheehan Syndrome	Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrenal insufficiency, Decr...	ORPHA:91355
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Retrograde ejaculation, Anti-smooth muscle anti...	ORPHA:49041
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic rhinitis, Reduced sperm motility, Bronchiectasis, Recurrent respira...	OMIM:612650
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Paralysis, Abnormal lower motor neuron morphology, Parkinsonism	OMIM:105500
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a...	OMIM:612260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Increased circul...	ORPHA:276
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Ato...	ORPHA:2070
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Myelody...	ORPHA:846
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody...	ORPHA:3318
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Skin rash, Re...	OMIM:619374
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia	OMIM:616873
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Neoplasm of the tongue, Skin rash, Abnormal...	ORPHA:100026
Hypokalemic Periodic Paralysis	Respiratory paralysis, Adrenocortical adenoma, Mildly elevated creatine kinase, Periodic hypokale...	ORPHA:681
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess, Gastroparesis	OMIM:619223
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Diarrhea, Pleural effusion, Weight loss, Bronchiectasis	ORPHA:411703
Tetrasomy 12P	Hypohidrosis, Cachexia, Anal atresia, Abnormal soft palate morphology	ORPHA:884
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Rectovaginal fistula, Chronic diarrhea, Skin rash, ...	ORPHA:35078
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Mye...	OMIM:601382
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Jaundice, Elevated circulating hepatic transamin...	OMIM:208085
Postinfectious Vasculitis	Gastrointestinal inflammation, Bacterial endocarditis, Arthritis, Viral hepatitis, Retinal vascul...	ORPHA:48435
Renpenning Syndrome	High, narrow palate, Hypospadias, Cachexia, Anal atresia, Decreased testicular size, Cleft palate...	ORPHA:3242
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus...	ORPHA:48377
Retinitis Pigmentosa 9	Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy	OMIM:180104
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Persistent pupillary membrane, Uveitis, Leukocoria, Posterior synechiae of the anterior chamber, ...	OMIM:221900
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Ataxia, Achalasia, Peripheral demyeli...	OMIM:609033
Ciliary Dyskinesia, Primary, 16	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis	OMIM:614017
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination, Chorea, Intention tremor, Ataxia, Abnormal pyramidal sign, Abnormalit...	ORPHA:48431
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Pancr...	OMIM:610199
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Conical tooth, Selective tooth agenesis, Anhidrosis, Blepharitis, Cleft uppe...	OMIM:106260
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Infertility, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infe...	OMIM:616481
Igg4-Related Aortitis	Intestinal obstruction, Increased circulating antibody level, Elevated circulating C-reactive pro...	ORPHA:449400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality	OMIM:167400
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Glossitis, Cachexia, Diarrhea, Hamartomatous polyposis, Vomiting, Hem...	OMIM:175500
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Recurrent otitis media, Panniculitis, Hepatomegaly, Lupus anticoagulant, Elevated ...	OMIM:615688
Pauci-Immune Glomerulonephritis	Abnormality of the pulmonary vasculature, Scleritis, Abnormality of the gastrointestinal tract, P...	ORPHA:93126
Cowden Syndrome 7	Hashimoto thyroiditis, Goiter, Intestinal polyposis, Papillary thyroid carcinoma	OMIM:616858
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Hyperkinetic movements, Abnormal glossopharyngeal ne...	ORPHA:297
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Babinski sign, Sensory axonal neuropathy, Athetosis, Involuntary movements, Hyperg...	OMIM:271245
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Hepatic fai...	ORPHA:108
Blepharonasofacial Malformation Syndrome	Non-midline cleft of the upper lip, Tooth agenesis, Cleft palate, Long philtrum, Lacrimation abno...	ORPHA:1252
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Iris nevus, Increased circulating antibody level, Increased circula...	ORPHA:91500
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, High palate, Impaired oropharyngeal swallow respo...	ORPHA:98897
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Dacryocystitis-Osteopoikilosis Syndrome	Lacrimation abnormality	ORPHA:1562
Glycogen Storage Disease Ib	Delayed puberty, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati...	OMIM:232220
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Weight loss, Autoi...	ORPHA:33577
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thri...	OMIM:613489
Lacrimal Duct Defect	Sinusitis, Epiphora, Conjunctivitis	OMIM:149700
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Increased circulating antibody level, Respiratory par...	ORPHA:79139
Scedosporiosis	Abnormal jejunum morphology, Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Art...	ORPHA:449280
Limbal Stem Cell Deficiency	Lacrimation abnormality, Keratitis, Epiphora	ORPHA:171673
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczematoid dermatitis, Bronchiectasis, Rheumatoid arthritis, Failure to ...	ORPHA:79128
Cone-Rod Dystrophy 15	Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy	OMIM:613660
Acquired Partial Lipodystrophy	Lymphocytosis, Autoimmunity	ORPHA:79087
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Recurrent sinusitis, Bronchiectasis, Recurrent respirator...	OMIM:620197
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Chronic axonal neuropathy, Demyelinating peripheral neuropat...	ORPHA:99948
Behçet Disease	Gastrointestinal hemorrhage, Pancreatitis, Recurrent aphthous stomatitis, Pleuritis, Myositis, Op...	ORPHA:117
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating th...	ORPHA:424
Achromatopsia 7	Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea	OMIM:616517
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Vomiting, Nausea, Hepatosplenomegaly, Splenomegaly, Lipemia retinalis	OMIM:238600
Immunodeficiency, Common Variable, 14	Chronic diarrhea, Decreased specific antibody response to vaccination, Decreased circulating IgG ...	OMIM:617765
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Recurrent bronchitis, Infertility, Recurrent sinusitis, Bronchiectasis	OMIM:613193
Corneal Dystrophy, Meesmann, 1	Epiphora	OMIM:122100
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Skin rash, Enterocolitis, Failure to thrive, Thrombocytopenia, Splenomegaly...	OMIM:616050
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin...	OMIM:613404
Classic Progressive Supranuclear Palsy Syndrome	Neuromuscular dysphagia, Decreased lacrimation	ORPHA:240071
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Pleuritis, Diarrhea, Arthriti...	ORPHA:342
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Episodic hyperhidrosis, Gastroesophageal reflux, Diarrhea, Vomiting, Constipation, Alacrima	OMIM:223900
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Immunodeficiency 31C	Delayed puberty, Chronic oral candidiasis, Hepatomegaly, Protein-losing enteropathy, Diarrhea, Ch...	OMIM:614162
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Panniculitis, Hyperinsulinemia, Acute pancreatitis, Autoimmunity, Polycy...	ORPHA:79086
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Abnormality of the gastrointestinal tract, Atelectasis, Increased c...	ORPHA:2902
Cleft Velum	Recurrent otitis media, Oral-pharyngeal dysphagia, Cleft soft palate, Aspiration pneumonia, Velop...	ORPHA:99772
Common Variable Immunodeficiency	Chronic otitis media, Emphysema, Recurrent bronchitis, Decreased circulating antibody level, Gast...	ORPHA:1572
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Atopic dermatitis, Glucocortocoid-insensitive primary hyperaldosteronism, Vomitin...	ORPHA:171876
Glycogen Storage Disease Ixb	Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Splenomegaly, Increased hepatic glyc...	OMIM:261750
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, Chorea, Tremor, Elevated ci...	OMIM:208920
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Weight loss	ORPHA:312
Macular Degeneration, Age-Related, 3	Macular degeneration, Drusen, Choroidal neovascularization	OMIM:608895
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Abnormal lung morphology, Abnorma...	ORPHA:33276
Ciliary Dyskinesia, Primary, 15	Recurrent otitis media, Infertility, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory i...	OMIM:613808
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Ciliary Dyskinesia, Primary, 14	Male infertility, Polysplenia, Recurrent pneumonia, Reduced sperm motility, Otitis media, Bronchi...	OMIM:613807
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Keratosis Pilaris Atrophicans	Epiphora	OMIM:604093
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Recurrent otitis media, Elevated c...	OMIM:614921
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Incontinentia Pigmenti	Breast hypoplasia, Conical tooth, Delayed eruption of teeth, Breast aplasia, Oligodontia, Hypopla...	OMIM:308300
Thymoma	Neoplasm of the thyroid gland, Prostate neoplasm, Systemic lupus erythematosus, Myositis, Neoplas...	ORPHA:99867
Laryngotracheoesophageal Cleft Type 4	Cachexia, Tracheoesophageal fistula, Abnormal mesentery morphology, Abnormality of the spleen, In...	ORPHA:93941
Sweet Syndrome	Increased circulating interleukin 6 concentration, Panniculitis, Elevated circulating C-reactive ...	ORPHA:3243
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Failure to thrive, Splenomegaly, Cardiomegaly	OMIM:269920
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Alacrima, Conjunctivitis	OMIM:615560
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea	OMIM:202110
Eosinophilic Fasciitis	Myositis, Arthritis, Fasciitis, Weight loss	ORPHA:3165
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi...	ORPHA:98849
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:617591
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Skin rash, C...	ORPHA:911
Cone-Rod Dystrophy, X-Linked, 1	Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli...	OMIM:304020
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Ciliary Dyskinesia, Primary, 7	Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis	OMIM:611884
Focal Facial Dermal Dysplasia Type Iii	Lacrimation abnormality, Anal atresia, Downturned corners of mouth, Short philtrum	ORPHA:1807
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili...	ORPHA:482
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Minimal change glomerulonephritis, Abnormal lymp...	ORPHA:1830
Amyloidosis, Familial Visceral	Skin rash, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Oligodontia, Abnormality of the dentition, Anal atresia, Microdontia, ...	ORPHA:2315
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Primary Angiitis Of The Central Nervous System	Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis, Pseudopapilledema	ORPHA:140989
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Recurrent skin infections	OMIM:620210
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Bronchogenic Cyst	Bronchogenic cyst, Abnormal stomach morphology, Atelectasis, Abnormal peritoneum morphology, Abno...	ORPHA:2357
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:881
Typhoid	Hypertonia, Hepatomegaly, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Tremor, Constipation,...	ORPHA:99745
Deeah Syndrome	Narrow palate, Decreased response to growth hormone stimulation test, Hepatomegaly, Short philtru...	OMIM:619004
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Orofacial cleft, Delayed eruption of teeth, Abnormal dental en...	ORPHA:464
Retinitis Pigmentosa 86	Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund...	OMIM:618613
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Aspiration pneumonia, Dysphagia, Weight loss, Rod-cone dystrophy, Optic d...	ORPHA:216866
Immunodeficiency 43	Lung abscess, Abnormal circulating IgM level, Decreased circulating IgG level, Abnormal circulati...	OMIM:241600
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Failure to thrive in infancy, Crazy paving pattern, Autoimmune antibo...	ORPHA:264675
Silver-Russell Syndrome	Hypospadias, Gastroesophageal reflux, Abnormal vagina morphology, Abnormal male external genitali...	ORPHA:813
Mcdonough Syndrome	Cachexia, Cryptorchidism	ORPHA:2471
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Lacrimal gland aplasia, Short philtrum, Decreased lacrimation, S...	ORPHA:572333
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy	ORPHA:75373
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r...	OMIM:617304
Glycogen Storage Disease Ia	Delayed puberty, Intermittent diarrhea, Hepatomegaly, Elevated circulating hepatic transaminase c...	OMIM:232200
Alacrima, Congenital, Autosomal Recessive	Alacrima	OMIM:601549
Ciliary Dyskinesia, Primary, 5	Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Reduced sperm...	OMIM:608647
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Dysphagia, Pigmentary retinopathy	OMIM:164500
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Recurrent aspiration pneumonia, Gastroesophageal reflux	OMIM:619971
Zika Virus Disease	Myelitis, Arthritis, Skin rash, Abnormal optic disc morphology, Vomiting, Increased circulating I...	ORPHA:448237
Bacterial Toxic-Shock Syndrome	Myocarditis, Myositis, Arthritis, Skin rash, Diarrhea, Hepatitis, Sinusitis, Nausea, Vomiting, Re...	ORPHA:36234
Christianson Syndrome	Cachexia, Dysphagia, Gastroesophageal reflux	ORPHA:85278
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female...	ORPHA:85138
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Recurrent respiratory infections	ORPHA:1389
Retinitis Pigmentosa 80	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy	OMIM:617781
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Anemia, Hypochromic microcytic anemia, Cholestasis, Portal hypertensio...	ORPHA:440713
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Hypothyroidism, Obesity, Gout, Diabetes mellitus, Hepatic steat...	ORPHA:412
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Frequent falls, Onion b...	OMIM:601455
Flotch Syndrome	Blepharitis, Inflammatory abnormality of the eye	ORPHA:2045
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Leukodystrophy, Hypomyelinating, 5	Babinski sign, Delayed brainstem auditory evoked response conduction time, Truncal titubation, In...	OMIM:610532
Seckel Syndrome 10	Retinal detachment, Acute pancreatitis, Elevated circulating alanine aminotransferase concentrati...	OMIM:617253
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal vagina morphology, Skin rash, Dyspareunia, Recurrent respiratory infections, ...	ORPHA:1334
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Truncal obesity, Obesity, Attenuation of retinal blood v...	OMIM:615986
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Babinski sign, Oculomotor apraxia, Lower limb spasticity, Dysdiadochokinesis, Spas...	ORPHA:171629
Stuve-Wiedemann Syndrome 1	Thin vermilion border, Decreased lacrimation, Smooth tongue, Carious teeth, Hyperhidrosis, Dyspha...	OMIM:601559
Pelizaeus-Merzbacher Disease	Optic atrophy, Cachexia, Bowel incontinence, Failure to thrive in infancy, Recurrent respiratory ...	ORPHA:702
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
X-Linked Adrenoleukodystrophy	Increased circulating ACTH level, Paralysis, Incoordination, Paraparesis, Hemiparesis, Progressiv...	ORPHA:43
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit...	ORPHA:3260
Familial Gestational Hyperthyroidism	Diarrhea, Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating th...	ORPHA:99819
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Rheuma...	ORPHA:85435
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Goiter, Hypothyroidism, Chronic rhinitis	OMIM:617577
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Xerostomia, Skin rash, Posterior uve...	ORPHA:90340
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Abnorma...	ORPHA:90793
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Gastroesophageal...	ORPHA:2032
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Lymphoma, Sp...	ORPHA:3162
Pemphigus Erythematosus	Malar rash, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-acetylcholine rec...	ORPHA:79480
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Thyroid carcinoma, Intestinal polyposis, Cachexia, Neoplasm of the adrenal cortex,...	ORPHA:109
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurren...	OMIM:614935
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Babinski sign, Lower limb spasticity, Knee clonus, Spastic paraplegia, Ataxia, Dysp...	OMIM:604360
Pgm3-Cdg	Chronic otitis media, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity,...	ORPHA:443811
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Atopic dermatitis, Sinusitis, Rhinitis, Otitis media, Decreased proportion of ...	ORPHA:70593
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Agammaglobulinemia 10, Autosomal Dominant	Recurrent sinusitis, Transient neutropenia, Absent circulating B cells	OMIM:619707
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pleuritis, Pericarditis, Abnormal lung morphology, Wei...	ORPHA:767
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive, Thrombocytopenia, Absent circula...	OMIM:619693
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Optic atrophy, Babinski sign, Sensory axonal neuropathy, Poor fine motor coordination, Vocal cord...	ORPHA:99947
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Biliary hyperplasia, Splenomegaly, Hepat...	OMIM:619991
Immunodeficiency 70	B lymphocytopenia, Furuncle, Verrucae, Recurrent sinusitis, Decreased proportion of CD4-positive ...	OMIM:618969
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Glycogen Storage Disease Ixa1	Reduced hepatic phosphorylase kinase activity, Hepatomegaly, Elevated circulating hepatic transam...	OMIM:306000
Nipah Virus Disease	Tremor, Infectious encephalitis, Myoclonus	ORPHA:99825
Leber Congenital Amaurosis 9	Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin...	OMIM:608553
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Ethylene Glycol Poisoning	Vomiting, Pulmonary edema, Gastritis, Nausea	ORPHA:31826
Erythrokeratodermia Variabilis	Skin rash, Diabetes mellitus, Weight loss	ORPHA:317
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor	OMIM:604393
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Dysphagia, Aspiration pneumonia	ORPHA:90117
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3-positive T c...	ORPHA:760
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Intestinal obstruction, Liver abscess, Elevated circulating hepatic transaminase co...	ORPHA:67
Proteus Syndrome	Lipoma, Hemangioma, Lymphangioma, Splenomegaly, Multiple lipomas	OMIM:176920
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Gastroesophageal reflux, Cone/cone-rod dystrophy, Retinal degeneration, Cryptorchi...	OMIM:249270
Phacoanaphylactic Uveitis	Posterior synechiae of the anterior chamber, Posterior uveitis, Keratitis, Anterior uveitis, Panu...	ORPHA:209959
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Achlorhydria	OMIM:252650
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Abnormality of the female genitalia, Anti-smooth muscle antibody positivity,...	ORPHA:1018
Ciliary Dyskinesia, Primary, 38	Chronic otitis media, Infertility, Rhinitis, Bronchiectasis, Chronic sinusitis	OMIM:618063
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Retinitis Pigmentosa 79	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O...	OMIM:617460
Spastic Ataxia, Charlevoix-Saguenay Type	Spastic gait, Babinski sign, Decreased sensory nerve conduction velocity, Spasticity, Upper motor...	OMIM:270550
Lysosomal Acid Lipase Deficiency	Decreased liver function, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concen...	ORPHA:275761
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Decreased nerve conduction velocity, Elevated circulating creatine ...	ORPHA:101082
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Eczematoid dermatitis, Failure to thrive in infancy, Decreased proportion of C...	OMIM:619510
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Foodborne Botulism	Diarrhea, Diaphragmatic paralysis, Cerebral palsy, Constipation, Dysphagia, Paralysis, Xerostomia	ORPHA:228371
Trigeminal Neuralgia	CNS demyelination, Allodynia, Peripheral demyelination, Cranial nerve compression	ORPHA:221091
Snakebite Envenomation	Respiratory paralysis, Diarrhea, Neuromuscular dysphagia, Vomiting, Paralysis, Hypopituitarism, P...	ORPHA:449285
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Cachexia, Failure to thrive in infancy	OMIM:616801
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Increased circulating lactate dehyd...	ORPHA:457077
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Rectal prolapse, Pancreatitis, Acute colitis, Diarrhea, Intestinal perforation, Bloody diarrhea, ...	ORPHA:90038
Retinitis Pigmentosa 10	Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ...	OMIM:180105
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Decreased response to growth hormone stimulation test, Prem...	ORPHA:96179
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Increased circulating antibody level, Abnormality of the gastrointestinal...	ORPHA:99826
Familial Cervical Artery Dissection	Paralysis, Facial palsy	ORPHA:36382
Abetalipoproteinemia	Retinopathy, Retinal degeneration, Fat malabsorption	OMIM:200100
Parathyroid Carcinoma	Peptic ulcer, Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone ...	ORPHA:143
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Atopic dermatitis, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Demyelinating p...	OMIM:218000
Cone-Rod Dystrophy 21	Macular atrophy, Retinal dystrophy	OMIM:616502
Takayasu Arteritis	Gastrointestinal infarctions, Inflammatory abnormality of the eye, Arthritis, Hyperhidrosis, Weig...	ORPHA:3287
Charcot-Marie-Tooth Disease Type 2B1	Axonal degeneration, Sensory axonal neuropathy, Decreased number of small peripheral myelinated n...	ORPHA:98856
Familial Dysautonomia	Gastroesophageal reflux, Abnormal peritoneum morphology, Hypohidrosis, Hyperhidrosis, Alacrima	ORPHA:1764
Nephronophthisis 14	Retinal degeneration	OMIM:614844
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism	OMIM:607080
Coccidioidomycosis	Morbilliform rash, Abnormality of the female genitalia, Pneumonia, Pancreatitis, Panniculitis, Ab...	ORPHA:228123
Diffuse Alveolar Hemorrhage	Anemia, Antiphospholipid antibody positivity, Leukocytosis, Rheumatoid factor positive, Antinucle...	ORPHA:90060
Oculodentodigital Dysplasia	Broad alveolar ridges, Premature loss of teeth, Selective tooth agenesis, High palate, Uveitis, M...	OMIM:164200
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pneumonia, Recurrent lower respiratory tract infections, Neutropenia...	OMIM:613179
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Attenuation of retinal blood vessels, He...	OMIM:203800
Mucopolysaccharidosis Type 7	Ascites, Hepatitis, Splenomegaly	ORPHA:584
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, High palate	ORPHA:596
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, M...	ORPHA:398124
Prolidase Deficiency	Hepatomegaly, Anemia, Eczematoid dermatitis, Prolonged neonatal jaundice, Failure to thrive, Recu...	OMIM:170100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Complement Component 4A Deficiency	Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Cockayne Syndrome A	Hepatomegaly, Irregular menstruation, Decreased lacrimation, Anhidrosis, Carious teeth, Enamel hy...	OMIM:216400
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate...	ORPHA:231222
Hereditary Central Diabetes Insipidus	Diarrhea, Weight loss, Vomiting, Diabetes insipidus	ORPHA:30925
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Antinuclear antibody positivity, Increased...	OMIM:620514
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Gastroesophageal reflux, High palate, Hyperhidrosis, Open mouth, Alacrima	OMIM:614653
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Cachexia, Optic atrophy, Skin rash	ORPHA:220295
Trisomy 8P	Thin vermilion border, Annular pancreas, Decreased lacrimation, Constipation, Bifid uvula, Cleft ...	ORPHA:264450
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf...	OMIM:614868
Retinitis Pigmentosa 41	Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio...	OMIM:612095
Paroxysmal Hemicrania	Rhinitis, Epiphora	ORPHA:157835
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Knee osteoarthritis, Arthritis, Sacroiliac arthritis, Enthesitis, Anterior uv...	ORPHA:85438
Severe Early-Childhood-Onset Retinal Dystrophy	Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d...	ORPHA:364055
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Hemiparesis	OMIM:617900
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Respiratory paralysis, Tetraplegia, Tremor, Thyr...	ORPHA:79102
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Decreased circulating IgG level, Bronchiectasis, Decreased circulating total IgM...	OMIM:619705
Pemphigus Vulgaris	Anti-desmoglein-3 antibody positivity, Anti-desmoglein-1 antibody positivity, Weight loss, Recurr...	ORPHA:704
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hyperthyroidism, Weight loss	OMIM:188580
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulating 21-deoxycortisol concentration	OMIM:201910
Hemochromatosis, Type 2A	Arthritis, Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Vocal cord paralysis, Glomus tympanicum paraganglioma, Glomus jugular tumor,...	OMIM:601650
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Axonal degeneration, Peripheral axonal neuropathy, Vocal cord paralysis, Decreased number of peri...	OMIM:615490
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Lymphoproliferat...	ORPHA:90033
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:26791
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Pancreatitis, Primary hyperparathyroidism	OMIM:600740
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233710
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Intestinal lymphedema, Recurrent infections, Chronic diarrhea, Decreased ...	ORPHA:90363
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Herpes simplex encephalitis	OMIM:610551
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Elevated circulating alanine aminotransferase concentration, Elevated circulating as...	OMIM:615558
Poliomyelitis	Hyperkinetic movements, Myelitis, Fasciculations, Paraparesis, Vomiting, Nausea, Dysphagia, Abnor...	ORPHA:2912
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Hepat...	OMIM:606003
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Gastrointestinal infarctions, Pancreatitis, Pleuritis, Acute colitis, Diarrhea, Pleu...	ORPHA:544482
Ciliary Dyskinesia, Primary, 22	Recurrent otitis media, Infertility, Rhinitis, Recurrent sinusitis, Reduced sperm motility, Bronc...	OMIM:615444
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Babinski sign, Hypertonia, Decreased distal sensory nerve action potential, Fasciculations, Senso...	ORPHA:466768
Multiple Sulfatase Deficiency	Hepatomegaly, Spasticity, CNS demyelination, Ataxia, Splenomegaly, Peripheral demyelination	OMIM:272200
Hurler-Scheie Syndrome	Abnormality of the tonsils, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93476
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Inflammatory abnormality of the eye, Tracheoesophageal fistula, Ecze...	ORPHA:379
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Glossoptosis, Abnormality of the dentition, Narrow mout...	ORPHA:2108
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Male hypogona...	OMIM:240950
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Male infertility, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Bron...	OMIM:244400
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
American Trypanosomiasis	Myocarditis, Hepatomegaly, Aganglionic megacolon, Diarrhea, Skin rash, Autoimmune antibody positi...	ORPHA:3386
Bardet-Biedl Syndrome 17	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Obesity, Hypogonadism, Micropen...	OMIM:615994
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Hepatic failure, Pulmonary carcinoid tu...	ORPHA:97287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Esophagitis, Alacrima, Achalasia, Hepatic steatosis	OMIM:615356
Serrated Polyposis Syndrome	Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti...	ORPHA:157798
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Anaplastic Thyroid Carcinoma	Anaplastic thyroid carcinoma, Neoplasm of the lung, Tracheoesophageal fistula, Nodular goiter, Dy...	ORPHA:142
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Gait ataxia, Decreased amplitude of sensory action potential...	ORPHA:90103
Retinitis Pigmentosa 58	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:613617
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Cockayne Syndrome	Hepatomegaly, Keratoconjunctivitis sicca, Gastroesophageal reflux, Decreased lacrimation, Malar r...	ORPHA:191
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Autoimmunity, Skin rash, Systemic lupus erythematosus	ORPHA:90036
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:415
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Dental crowding, Chronic diarrhea, High palate, Thick vermilion border, Chronic con...	OMIM:619005
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Decreased lacrimation, Microvesicular hepatic steatosis, Impaired oral bolus format...	ORPHA:404454
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ...	OMIM:145350
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster...	ORPHA:403
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes mellitus	ORPHA:1133
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Atelis Syndrome 1	High palate, Eczematoid dermatitis, Hypothyroidism, Bronchiectasis, Decreased lymphocyte prolifer...	OMIM:620184
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Hepatic fibrosis, Obesity, Splenomegaly, Retinal degeneration, Hepatic...	OMIM:615630
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Rheumatoid Arthritis	Rheumatoid arthritis, Rheumatoid factor positive, Anti-citrullinated protein antibody positivity,...	OMIM:180300
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Perianal abscess, Anoperineal fistula, Increased circulating IgG ...	OMIM:618213
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Cachexia, Intestin...	OMIM:603041
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233690
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Non-Functioning Paraganglioma	Episodic hyperhidrosis, Tremor, Vocal cord paralysis, Paraganglioma of head and neck, Cranial ner...	ORPHA:94080
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Acne, Diabetes mellitus, Primary hypercortisolism, Increased circulating cor...	OMIM:615830
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Fusariosis	Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth...	ORPHA:228119
Intellectual Developmental Disorder, Autosomal Recessive 41	Recurrent pneumonia, Hepatomegaly, Splenomegaly	OMIM:615637
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Onion bulb formation, Elevated circulating creatine kinase concentration, Axonal loss	OMIM:614455
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Biliary tract abnor...	OMIM:209900
Good Syndrome	Diarrhea, Decreased circulating antibody level, Sinusitis, Diabetes mellitus, Dysphagia, Thymoma,...	ORPHA:169105
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Decreased serum leptin, Dysmenorrhea, Splenomeg...	ORPHA:280365
Glutaric Acidemia I	Hepatomegaly, Symmetrical progressive peripheral demyelination, Delayed myelination, Rigidity, Dy...	OMIM:231670
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis...	ORPHA:98757
Refractory Celiac Disease	Elevated alkaline phosphatase of bone origin, Protein-losing enteropathy, Elevated circulating he...	ORPHA:398063
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Diarrhea, Intraalveolar phospholipid accumulation, Vomiting, Failure ...	OMIM:222700
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Low ch...	OMIM:257220
Attrv30M Amyloidosis	Diarrhea, Vitreous floaters, Impotence, Constipation, Weight loss	ORPHA:85447
Sjogren-Larsson Syndrome	Macular dots, Retinal thinning, Macular degeneration, Macular crystals, Retinal pigment epithelia...	OMIM:270200
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Arthritis, Viral hepatiti...	ORPHA:91139
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Hemiparesis	OMIM:613002
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Diarrhea, Arthritis, Bronchitis, Decreased circulatin...	ORPHA:420741
Orofaciodigital Syndrome Viii	High palate, Recurrent aspiration pneumonia, Cleft palate	OMIM:300484
Leptospirosis	Jaundice, Hepatomegaly, Diarrhea, Optic neuritis, Skin rash, Chorioretinitis, Pleural effusion, P...	ORPHA:509
Zollinger-Ellison Syndrome	Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Pituitary growth hormone cel...	ORPHA:913
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Skin rash, Bloody diarrhea, Perin...	OMIM:617718
Holocarboxylase Synthetase Deficiency	Eczematoid dermatitis, Perioral eczema, Weight loss, Keratoconjunctivitis	ORPHA:79242
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Diabetes mellitus	ORPHA:140896
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Vocal cord paralysi...	OMIM:168000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertonia, Jaundice, Hepatomegaly, Tetraplegia, Skin rash, Hypoproteinemia, CNS demyelination, A...	OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly	OMIM:619183
Spinocerebellar Ataxia 25	Babinski sign, Oculomotor apraxia, Vomiting, Ataxia, Decreased number of peripheral myelinated ne...	OMIM:608703
19Q13.11 Microdeletion Syndrome	Hypospadias, Cachexia, Bifid scrotum, Failure to thrive, Recurrent respiratory infections, Crypto...	ORPHA:217346
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Weight loss, ...	ORPHA:324964
Acquired Ichthyosis	Autoimmunity, Recurrent skin infections	ORPHA:454
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Decreased lacrimation, Everted lower lip v...	ORPHA:293987
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia	OMIM:619046
Cysticercosis	Increased circulating antibody level, Chorioretinitis, Increased anti-parasite IgE antibody level...	ORPHA:1560
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Dysphagia, Abnormal circulating enzyme concentration or activity	ORPHA:2590
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Atelectasis, Retinal arterial tortuosity, Pancreatitis, Splenic cyst, Retinal deta...	OMIM:620371
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Episodic vomitin...	ORPHA:20
Cockayne Syndrome B	Hepatomegaly, Decreased lacrimation, Anhidrosis, Carious teeth, Hypoplasia of teeth, Splenomegaly...	OMIM:133540
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly	OMIM:256550
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ...	ORPHA:786
Retinitis Pigmentosa	Optic atrophy, Bone spicule pigmentation of the retina, Hyperinsulinemia, Abnormal testis morphol...	ORPHA:791
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation, Reduced circulating prolactin concentration	OMIM:264110
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Melas	Optic atrophy, Hypoparathyroidism, Intestinal pseudo-obstruction, Diarrhea, Hypothyroidism, Failu...	ORPHA:550
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss, Hepatosplenomegaly	ORPHA:86884
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Cachexia, High palate, Gastroesophageal reflux	OMIM:618186
Retinitis Punctata Albescens	Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina...	ORPHA:52427
Slc35A1-Cdg	Pneumonia, Pulmonary hemorrhage	ORPHA:238459
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Aganglionic megacolon, Episcleritis, Eczematoid dermatitis, Blepharitis, Hypohidrosis,...	ORPHA:2273
Lysinuric Protein Intolerance	Cirrhosis, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, D...	ORPHA:470
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Te...	ORPHA:99880
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Anhidrosis, Splenomegaly, Pneumonia, Autoimmunity	ORPHA:169090
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis, ...	ORPHA:71493
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Dystonia, Abnormal pyrami...	OMIM:272750
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Recurrent otitis media, Hepatomegaly, Cholelithiasis, Gast...	OMIM:618268
Acute Disseminated Encephalomyelitis	Myelitis, Optic neuritis, Herpes simplex encephalitis, Anti-myelin oligodendrocyte glycoprotein a...	ORPHA:83597
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Pseudohypoaldosteronism	OMIM:145260
Cirrhosis, Familial	Cirrhosis, Jaundice, Fulminant hepatitis, Esophageal varix, Biliary cirrhosis, Micronodular cirrh...	OMIM:215600
Roifman Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Recurrent pneumonia...	OMIM:616651
Familial Pancreatic Carcinoma	Intermittent diarrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Intesti...	ORPHA:1333
Ring Chromosome 10 Syndrome	Cachexia, Aganglionic megacolon	ORPHA:1438
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, High palate, Decreased testicular size, Obesity, Hyperhidrosis, Hy...	ORPHA:85293
Retinitis Pigmentosa 56	Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves...	OMIM:613581
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Primary Ciliary Dyskinesia	Chronic otitis media, Male infertility, Recurrent otitis media, Atelectasis, Pulmonary situs ambi...	ORPHA:244
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular coloboma, Geographic atrophy, Attenuation of retinal blood vessels, Retinal degeneration,...	OMIM:619260
Inhalational Botulism	Paralysis, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ...	ORPHA:97289
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Nephronophthisis-Like Nephropathy 2	Bronchiectasis, Recurrent respiratory infections	OMIM:619468
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Kaposi's sarc...	OMIM:612783
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ...	OMIM:219080
Toxin-Mediated Infectious Botulism	Diaphragmatic paralysis, Cerebral palsy, Constipation, Dysphagia, Paralysis	ORPHA:230800
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro...	OMIM:616037
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Alopecia Totalis	Autoimmunity, Inflammation of the large intestine	ORPHA:700
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly	ORPHA:290
Insulin-Resistance Syndrome Type B	Skin rash, Increased body weight, Biliary cirrhosis, Fasting hyperinsulinemia, Hyperinsulinemia, ...	ORPHA:2298
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:613464
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Adrenal pheochromocytoma, Vocal cord paralysis, Elevated circulating catecholamine ...	OMIM:605373
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Autoimmunity, Pancreatitis	ORPHA:405
Branchiootorenal Syndrome 1	Euthyroid goiter, Increased overbite, High palate, Microdontia, Intestinal malrotation, Bifid uvu...	OMIM:113650
Waardenburg Syndrome	Intestinal obstruction, Orofacial cleft, Aganglionic megacolon, Abnormality of the gastrointestin...	ORPHA:3440
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Elevated circulating hepatic transaminase concentration, Diarrhea, Abnormal testis...	ORPHA:54251
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of peripheral my...	OMIM:607831
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Constipation, Cachexia, Severe failure to thrive	ORPHA:371364
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Arthritis, Hepatocellular carcinoma, Chronic hepat...	ORPHA:465508
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy...	ORPHA:66628
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Failure to thrive in in...	OMIM:612852
Waardenburg Syndrome Type 1	Aganglionic megacolon, Cleft upper lip, Cleft palate, Tented upper lip vermilion, Lacrimation abn...	ORPHA:894
Xfe Progeroid Syndrome	Optic atrophy, Premature ovarian insufficiency, Elevated circulating hepatic transaminase concent...	OMIM:610965
Mitochondrial Complex I Deficiency, Nuclear Type 33	Optic atrophy, Hypospadias, Aspiration pneumonia, Dysphagia, Bronchiectasis, Small for gestationa...	OMIM:618253
Late-Onset Retinal Degeneration	Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d...	ORPHA:67042
Infantile Krabbe Disease	Optic atrophy, Gastroesophageal reflux, Abnormal circulating enzyme concentration or activity, Ca...	ORPHA:206436
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Spasticity, Dystonia, Ataxia, Delayed peripheral myelination, Puberty and ...	ORPHA:464282
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276244
Wiskott-Aldrich Syndrome	Hematemesis, Chronic diarrhea, Recurrent sinusitis, Recurrent meningitis, Inflammation of the lar...	OMIM:301000
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Onion bulb formation, Myelin outfoldings	OMIM:615284
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Anal stenosis, Anorectal anomaly, Cachexia, Chronic diarrhea, Anal a...	ORPHA:647
Intellectual Developmental Disorder And Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:618195
Drug-Induced Lupus Erythematosus	Lupus anticoagulant, Anemia, Malar rash, Pericarditis, Autoimmune antibody positivity, Thrombocyt...	ORPHA:231111
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Ascites, Hepatomegaly, Splenomegaly	ORPHA:834
Polymyositis	Abnormal pulmonary interstitial morphology, Hepatomegaly, Gastrointestinal hemorrhage, Gastroesop...	ORPHA:732
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230650
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal peripheral nerve morphology by anatomical site, Decreased serum estra...	ORPHA:168563
Leprosy	Abnormality of the adrenal glands, Iritis, Hypohidrosis, Abnormality of the spleen, Abnormality o...	ORPHA:548
Congenital Disorder Of Deglycosylation 1	Hepatomegaly, Oral-pharyngeal dysphagia, Anhidrosis, Impaired oral bolus formation, Impaired orop...	OMIM:615273
Ciliary Dyskinesia, Primary, 2	Infertility, Sinusitis, Otitis media, Bronchiectasis, Recurrent respiratory infections	OMIM:606763
X-Linked Creatine Transporter Deficiency	Constipation, Cachexia, Aganglionic megacolon, Ileus	ORPHA:52503
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Failure to thrive, Leukopenia,...	OMIM:267700
Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia, Xerostomia, Tongue atrophy	ORPHA:803
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal ...	ORPHA:90362
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Vernal Keratoconjunctivitis	Epiphora, Keratoconjunctivitis, Punctate keratitis, Blepharitis, Allergic conjunctivitis	ORPHA:70476
Thymic Carcinoma	Hyperhidrosis, Neoplasm of the thymus, Weight loss	ORPHA:99868
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Hyperkinetic movements, Ja...	ORPHA:525731
Herpes Simplex Virus Stromal Keratitis	Keratitis, Epiphora	ORPHA:137599
Hsd10 Disease, Infantile Type	Optic atrophy, Abnormal circulating enzyme concentration or activity, Dysphagia, Gastrointestinal...	ORPHA:391428
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Nephroblastoma	Neoplasm of the liver, Aniridia, Weight loss, Neoplasm of the lung	ORPHA:654
Epithelial Recurrent Erosion Dystrophy	Epiphora, Keratoconjunctivitis sicca	ORPHA:293381
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Esophageal ulceration, Gastric ulcer	OMIM:618372
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Type I diabetes mellitus, Weight loss	ORPHA:1979
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy...	ORPHA:179494
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Oral-pharyngeal dysphagia, Diarrhea, Xerostomia, Skin rash, Intest...	ORPHA:95455
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u...	ORPHA:1501
Interstitial Cystitis	Autoimmunity, Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosi...	ORPHA:37202
Eec Syndrome	Orofacial cleft, Decreased response to growth hormone stimulation test, Anterior hypopituitarism,...	ORPHA:1896
Stickler Syndrome	Chronic otitis media, Gastroesophageal reflux, Short hard palate, Cachexia, Glossoptosis, Slender...	ORPHA:828
Immunodeficiency 31B	Herpes simplex encephalitis	OMIM:613796
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cryptorchidism, External genital hypoplasia, Decreased testicular size	ORPHA:1867
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating alkaline phosphatase concentration, Retinal neo...	ORPHA:247691
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Diarrhea, Crohn's disease, Arthritis, Pleural effusion, Vomiting, Erysip...	OMIM:249100
East Syndrome	Peripheral hypomyelination, Peripheral axonal neuropathy, Action tremor, Increased circulating re...	ORPHA:199343
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development	Hiatus hernia	OMIM:272000
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Episodic hyperh...	OMIM:201300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C...	OMIM:615895
Uveal Melanoma	Mydriasis, Ciliary body melanoma, Iris melanoma, Inflammatory abnormality of the eye	ORPHA:39044
Carcinoid Syndrome	Epiphora, Small intestine carcinoid, Hepatic necrosis, Protracted diarrhea, Intestinal carcinoid	ORPHA:100093
New-Onset Refractory Status Epilepticus	Autoimmunity, Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym...	ORPHA:79332
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Pustule, Autoimmune ant...	ORPHA:555905
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Lupus anticoagulant, Lymphadenopathy, Antiphospholipid...	ORPHA:93552
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:608594
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Multiple myeloma, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration, Bowel incontinence	OMIM:270700
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Recurrent otitis media, Obesity, Splenomegaly, Lymphopenia	OMIM:605309
Maternal Uniparental Disomy Of Chromosome 6	Increased serum testosterone level, Eczematoid dermatitis, Hydrocele testis, Thrombocytopenia, Co...	ORPHA:96181
Viss Syndrome	Pulmonary artery aneurysm, Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, ...	OMIM:619472
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Weight loss, Diabetes insipidus	ORPHA:178029
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas...	ORPHA:189427
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Decreased circulating total IgA, Antinuclear antibo...	ORPHA:1929
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hypertonia, Hepatomegaly, Episodic vomiting, Chorea, Spasticity, Demyelinating per...	ORPHA:255210
Retinitis Pigmentosa And Erythrocytic Microcytosis	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy...	OMIM:616959
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Downturned corners of mouth, Smooth philtrum, Long philtrum, Alacrima, Thin upper lip vermilion	OMIM:618548
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Retinopathy, Optic atrophy, Macular atrophy, Optic disc pallor	OMIM:616171
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Failure to thrive, Retinal degeneration, Gastroesophageal reflux	ORPHA:442835
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Intestinal obstruction, Gastroesophageal reflux, Myositis, Arthritis, Skin rash, Sin...	ORPHA:183
Crigler-Najjar Syndrome	Abnormality of the liver, Jaundice, Infectious encephalitis	ORPHA:205
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepati...	OMIM:610377
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Anemia, Arthritis	ORPHA:375
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice...	ORPHA:100086
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Impotence, Adren...	ORPHA:91354
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Inflammatory a...	ORPHA:565612
Reactive Arthritis	Recurrent aphthous stomatitis, Diarrhea, Arthritis, Pericarditis, Pustule, Inflammation of the la...	ORPHA:29207
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoinsulinemia, Neoplasm of the lung, Abnormal prostate morpholo...	ORPHA:2126
Ichthyosis, Congenital, Autosomal Recessive 2	Paralysis, Anhidrosis, Hypohidrosis	OMIM:242100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Recurrent respiratory infections, Hepatic fibrosis, Polycystic liver disease, Bile duct...	OMIM:208500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco...	ORPHA:90791
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Cerebral palsy, Head titubation, Ataxia, Hepatic steatosis, Leukodystrophy, Hype...	OMIM:619475
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	OMIM:269700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:293978
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Idiopathic Pulmonary Hemosiderosis	Anti-smooth muscle antibody positivity, Iron deficiency anemia, Rheumatoid factor positive, Autoi...	ORPHA:99931
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:306400
Molybdenum Cofactor Deficiency, Complementation Group B	Hypertonia, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Peripheral demyelination, Axonal...	OMIM:252160
Adams-Oliver Syndrome 6	Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Retinoblastoma	Heterochromia iridis, Cleft palate, Uveitis, Leukocoria	ORPHA:790
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Jaundice, Stomatitis, Poor fine motor coordination, Ataxia, Severe demyelination o...	ORPHA:79282
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Increased proportion of CD25+ mast cells, Diarrhea, Portal hypertens...	ORPHA:98850
Somatostatinoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Pitui...	ORPHA:97283
Cone-Rod Dystrophy 8	Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re...	OMIM:605549
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pituitary adenoma,...	ORPHA:97278
Malakoplakia	Prostate neoplasm, Neoplasm of the rectum, Diarrhea, Skin rash, Inflammatory abnormality of the s...	ORPHA:556
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Porphyria, Acute Intermittent	Respiratory paralysis, Diarrhea, Hepatocellular carcinoma, Vomiting, Nausea, Constipation, Paraly...	OMIM:176000
Schinzel-Giedion Syndrome	Annular pancreas, Aganglionic megacolon, Short philtrum, Delayed eruption of teeth, Streak ovary,...	ORPHA:798
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Abnormal pulmonary interstitial morphology, Cholelithiasis, Azoospermia, Bacteri...	ORPHA:2072
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Type II diabetes mellitus, Labial pseudohyper...	OMIM:151660
Mcleod Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased circulating ...	OMIM:300842
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphadenitis, Neu...	OMIM:260920
Acrodermatitis Enteropathica	Cheilitis, Glossitis, Chronic diarrhea, Furrowed tongue, Blepharitis, Pustule, Failure to thrive,...	ORPHA:37
Combined Oxidative Phosphorylation Deficiency 59	Vomiting, Failure to thrive, Retinal degeneration, Cholelithiasis	OMIM:620646
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Recurrent infections, Chronic diarrhea, Es...	OMIM:614576
Retinitis Pigmentosa 23	Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e...	OMIM:300424
Cancer-Associated Retinopathy	Optic atrophy, Granular macular appearance, Neoplasm of the pancreas, Small cell lung carcinoma, ...	ORPHA:71505
Timothy Syndrome	Pneumonia, Bronchitis, Hypothyroidism	OMIM:601005
Giant Axonal Neuropathy 1, Autosomal Recessive	Sensory axonal neuropathy, Facial palsy, Spastic paraplegia, Vomiting, Decreased number of periph...	OMIM:256850
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Cleft palate, Hypodontia, Lacrimation abnormality, Macrodontia	ORPHA:2916
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Myoclonic spasms, Opisthotonus, Spastic tetraplegia, Peripheral demyelinati...	OMIM:252150
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Periodontitis, Recurrent bacte...	OMIM:214500
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Hepatocellular carcinoma, Ascites, El...	OMIM:277900
Mucoepithelial Dysplasia, Hereditary	Melena, Epiphora, Chronic diarrhea, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Furr...	OMIM:158310
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti...	OMIM:610283
Retinitis Pigmentosa 60	Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep...	OMIM:613983
Farber Disease	Atelectasis, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme...	ORPHA:333
Glucagonoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Skin ...	ORPHA:97280
Cerebral Visual Impairment	Optic atrophy, Oculomotor apraxia, Optic nerve hypoplasia, Cerebral palsy, Optic disc pallor, Inc...	ORPHA:447788
Chronic Hiccup	Weight loss	ORPHA:396
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Roifman-Chitayat Syndrome	Optic atrophy, Arthritis, Pneumonia	OMIM:613328
Mirage Syndrome	Hypospadias, Gastroesophageal reflux, Chronic diarrhea, Achalasia, Decreased body weight, Adrenal...	OMIM:617053
Adiposis Dolorosa	Diarrhea, Arthritis, Hypothyroidism, Constipation, Recurrent skin infections, Autoimmunity, Xeros...	ORPHA:36397
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Fa...	OMIM:259700
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa...	ORPHA:79076
Yellow Nail Syndrome	Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Biliary tract neoplasm, Bronchiectasis, Rec...	ORPHA:662
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Acrocraniofacial Dysostosis	Lacrimation abnormality, Advanced eruption of teeth, Cleft palate, Short philtrum	ORPHA:949
Panbronchiolitis, Diffuse	Bronchiectasis	OMIM:604809
Meconium Aspiration Syndrome	Pneumothorax, Maternal diabetes, Atelectasis, Aspiration pneumonia	ORPHA:70588
Stiff-Person Syndrome	Frequent falls, Exaggerated startle response, Myoclonic spasms, Rigidity, Hyperhidrosis, Opisthot...	OMIM:184850
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276241
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Projectile vomiting, Skin rash, Increased ...	ORPHA:33475
Familial Glucocorticoid Deficiency	Azoospermia, Diarrhea, Decreased circulating dehydroepiandrosterone concentration, Congenital hyp...	ORPHA:361
Encephalitis Lethargica	Autoimmunity, Recurrent viral infections, Increased circulating antibody level, Bowel incontinence	ORPHA:83600
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Intestinal obstruction, Male infertility, Hepatomegaly, Primary testicu...	ORPHA:85450
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Cheilitis, Arthritis, Skin rash, Leukocytosis, P...	ORPHA:2331
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Limited Cutaneous Systemic Sclerosis	Autoimmunity, Dysphagia, Gastroesophageal reflux	ORPHA:220402
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Duodenal ulcer, Chronic diarrhea, Steatorrhea	ORPHA:3217
Fatal Familial Insomnia	Constipation, Hyperhidrosis, Dysphagia, Weight loss	OMIM:600072
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Glossopharyngeal Neuralgia	Abnormal glossopharyngeal nerve morphology, Oral-pharyngeal dysphagia, Vocal cord paralysis, Cran...	ORPHA:221098
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Hepatosplenomegaly, Pneumonia, Macroglossia, Recurrent gastroenteritis	ORPHA:309288
Dyskeratosis Congenita, Autosomal Recessive 6	Premature loss of teeth, Carious teeth, Epiphora, Oral leukoplakia	OMIM:616353
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Diarrhea, Failure to thrive, Weight loss, Recurrent respiratory infections	ORPHA:1842
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Alveolar Echinococcosis	Abnormal adrenal morphology, Jaundice, Liver abscess, Increased circulating antibody level, Chola...	ORPHA:284
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Rod-cone dystrophy	OMIM:610127
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Cone-Rod Dystrophy 2	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ...	OMIM:120970
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Oral-pharyngeal dysphagia, Peripheral axonal neuropathy, Facial diplegia, Ataxia, ...	ORPHA:254930
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Hypothyroidism, Recu...	OMIM:607944
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Nephronophthisis 9	Retinal degeneration	OMIM:613824
Immunodeficiency 23	Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulating IgE lev...	OMIM:615816
Acute Zonal Occult Outer Retinopathy	Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac...	ORPHA:284454
Hypercalcemia, Infantile, 1	Vomiting, Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss	OMIM:143880
Alexander Disease	Chorea, Tetraplegia, Tremor, Spasticity, Abnormal autonomic nervous system physiology, Facial pal...	ORPHA:58
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:264580
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Arthritis, Episodic hemolytic anemia, Reticulo...	OMIM:210250
Alström Syndrome	Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h...	ORPHA:64
Trichorhinophalangeal Syndrome, Type Ii	Hydrometrocolpos, Recurrent otitis media, Partial anomalous pulmonary venous return, Gastroesopha...	OMIM:150230
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated alkalin...	ORPHA:100085
Malignant Atrophic Papulosis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Arteritis, Intestinal perforation, Ple...	ORPHA:679
Rett Syndrome	Constipation, Cachexia, Gastroesophageal reflux	OMIM:312750
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Vomiting, Obesit...	ORPHA:26793
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Hashimo...	OMIM:618223
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Hypohidrosis, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy...	OMIM:301220
Sympathetic Ophthalmia	Posterior uveitis, Posterior synechiae of the anterior chamber	ORPHA:79098
Cystic Fibrosis	Pneumothorax, Absent vas deferens, Cirrhosis, Male infertility, Elevated circulating hepatic tran...	ORPHA:586
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bronchiectasis, Osteoarthritis	OMIM:620080
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co...	OMIM:615954
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Type 1 Diabetes Mellitus	Autoimmunity	OMIM:222100
Sporadic Pheochromocytoma/Secreting Paraganglioma	Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal co...	ORPHA:276621
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Vexas Syndrome	Nasal chondritis, Macrocytic anemia, Arteritis, Arthritis, Autoimmune antibody positivity, Thromb...	OMIM:301054
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Optic atrophy, Retinal degeneration	OMIM:616896
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Failure to thrive, Splenomegaly, Decreased beta-galactosida...	OMIM:230600
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Hepatomegaly, Splenomegaly	OMIM:252920
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Splenic infarction, Splenic ruptur...	ORPHA:355
Systemic Lupus Erythematosus	Cheilitis, Anti-U1 ribonucleoprotein antibody positivity, Malar rash, Arthritis, Discoid lupus ra...	ORPHA:536
Jalili Syndrome	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:217080
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Protein-losing enteropathy, Hematochezia, Weight loss	ORPHA:103910
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I...	ORPHA:542323
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Ataxia-Telangiectasia	Hypoplasia of the thymus, Lymphoma, T lymphocytopenia, Sinusitis, Hodgkin lymphoma, Acute lymphob...	OMIM:208900
Gm1 Gangliosidosis	Optic atrophy, Gastroesophageal reflux, Aspiration pneumonia, Decreased beta-galactosidase activi...	ORPHA:354
Peho Syndrome	Optic atrophy, Peripheral dysmyelination, Myoclonus	OMIM:260565
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis	OMIM:616084
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Macular degeneration, Cryptorchidism, Choroidal neovascularization	ORPHA:404451
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Lower limb spasticity,...	ORPHA:320375
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Intermittent diarrhea,...	ORPHA:330001
Overlap Myositis	Arthritis, Rheumatoid arthritis, Antinuclear antibody positivity, Leukopenia, Thrombocytopenia, S...	ORPHA:206572
Refsum Disease, Classic	Retinal degeneration, Reduced phytanic acid oxidase activity in cultured fibroblasts, Rod-cone dy...	OMIM:266500
Dyskeratosis Congenita, Autosomal Recessive 1	Epiphora, Microdontia, Carious teeth, Oral leukoplakia, Hepatic fibrosis, Esophageal stricture	OMIM:224230
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Dysphagia, Intestinal pseudo-obstruction	OMIM:619780
Al Amyloidosis	Abnormal pulmonary interstitial morphology, Hepatomegaly, Gastrointestinal hemorrhage, Increased ...	ORPHA:85443
Gitelman Syndrome	Delayed puberty, Neoplasm of the pancreas, Maternal diabetes, Diabetic ketoacidosis, Diarrhea, Gr...	ORPHA:358
Hartnup Disease	Skin rash, Ataxia, Infectious encephalitis	ORPHA:2116
Pancreatic Triacylglycerol Lipase Deficiency	Steatorrhea, Diarrhea, Exocrine pancreatic insufficiency, Weight loss, Keratoconjunctivitis sicca...	ORPHA:309031
Charcot-Marie-Tooth Disease Type 1F	Limb ataxia, Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve co...	ORPHA:101085
Pyomyositis	Myositis, Recurrent cutaneous abscess formation, Weight loss	ORPHA:764
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia	ORPHA:300605
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Optic atrophy, Gastroesophageal reflux, Spasticity, Vocal cord paralysis, Increased cup-to-disc r...	ORPHA:500144
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Decreased body weight, Leukocytosis, En...	ORPHA:90051
Hypohidrotic Ectodermal Dysplasia	Inflammatory abnormality of the eye, Xerostomia, Eczematoid dermatitis, Sinusitis, Hypohidrosis, ...	ORPHA:238468
Vipoma	Neoplasm of the pancreas, Abnormal gastrointestinal motility, Pituitary adenoma, Parathyroid aden...	ORPHA:97282
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Scorpion Envenomation	Myocarditis, Hyperkinetic movements, Increased circulating NT-proBNP concentration, Diarrhea, Tre...	ORPHA:466677
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Cavernous hemangioma, Hypers...	OMIM:616028
Aceruloplasminemia	Abnormal pancreas morphology, Abnormal circulating enzyme concentration or activity, Macular dege...	ORPHA:48818
Hurler Syndrome	Recurrent otitis media, Hepatomegaly, Recurrent respiratory infections, Hepatosplenomegaly, Splen...	OMIM:607014
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xerostomia, Aplasia of the paro...	OMIM:149730
Mucopolysaccharidosis Type 3	Optic atrophy, Chronic otitis media, Intermittent diarrhea, Hepatomegaly, Aspiration pneumonia, C...	ORPHA:581
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Hy...	ORPHA:534
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Peripheral hypomyelination, Chronic axonal neuropathy, Dysdiadochokinesis, Intention tremor, Incr...	OMIM:612780
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Retinal dystrophy, Peripheral retinal degeneration, Respiratory tract infection, R...	ORPHA:168549
African Trypanosomiasis	Abnormality of the endocrine system, Fasciculations, Optic neuritis, Abnormal growth hormone leve...	ORPHA:3385
Systemic Sclerosis	Gastroparesis, Bowel incontinence, Pericarditis, Anti-topoisomerase I antibody positivity, Dyspha...	ORPHA:90291
Glioblastoma	Paralysis	ORPHA:360
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, B lymphocytopenia, Bone marrow hypocellularity, Inflammation of the lar...	OMIM:620133
Familial Colorectal Cancer Type X	Neoplasm of the thyroid gland, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Neoplasm of...	ORPHA:440437
Trisomy 18	Narrow palate, Esophageal atresia, Cachexia, Anal atresia, Abnormality of retinal pigmentation, C...	ORPHA:3380
Orofaciodigital Syndrome Ix	High palate, Cleft palate, Recurrent aspiration pneumonia, Retinal coloboma	OMIM:258865
Hyperkalemic Periodic Paralysis	Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Cerebral palsy, Elevated circulating...	ORPHA:682
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Portal fibrosis, Episodic vomiting, Microvesicular hepatic ste...	OMIM:619377
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Recurrent otitis media, Abnormality of macular pigmentation, Retinal atrophy, C...	OMIM:608940
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Inflammatory abnormality of the eye	ORPHA:93262
Lipodystrophy, Familial Partial, Type 7	Diarrhea, Pleural effusion, Spontaneous pneumothorax, Vomiting, Failure to thrive, Dysphagia, Rec...	OMIM:606721
Insensitivity To Pain, Congenital, With Anhidrosis	Abnormal autonomic nervous system physiology, Anhidrosis, Keratitis, Osteomyelitis, Decreased num...	OMIM:256800
Poems Syndrome	Hepatomegaly, Increased circulating antibody level, Abnormality of the endocrine system, Pleural ...	ORPHA:2905
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Epiphora	ORPHA:141083
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma, Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Congenital Multicore Myopathy With External Ophthalmoplegia	Small scrotum, High palate, Pneumonia, Recurrent respiratory infections, Cryptorchidism, Micropenis	ORPHA:98905
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Retinopathy, Failure to thrive, Retinal degeneration, Macular scar...	OMIM:239000
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Abnormality of retinal pigmentation, Abnormality of the thyroid gland	ORPHA:1969
Dermatitis Herpetiformis	Autoimmunity, Microcytic anemia, Eczematoid dermatitis	ORPHA:1656
Listeriosis	Pericarditis, Pustule, Ataxia, Myoclonus, Cholecystitis, Myocarditis, Jaundice, Splenic abscess, ...	ORPHA:533
Alopecia Universalis	Autoimmunity, Psoriasiform dermatitis, Atopic dermatitis	ORPHA:701
Poikiloderma With Neutropenia	Recurrent otitis media, Skin rash, Increased circulating lactate dehydrogenase concentration, Ble...	OMIM:604173
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Diarrhea, Microvesicular hep...	OMIM:256810
Cushing Disease	Increased circulating ACTH level, Acne, Decreased eosinophil count, Secondary amenorrhea, Increas...	ORPHA:96253
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Dysphagia, Aspiration pneumonia	ORPHA:52368
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera...	ORPHA:231580
Werner Syndrome	Retinal degeneration, Hypogonadism, Elevated circulating alanine aminotransferase concentration, ...	OMIM:277700
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration, Gastroesophageal reflux	ORPHA:542306
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Microvesicular hepatic stea...	OMIM:619418
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism	ORPHA:369929
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Truncal ataxia, Vocal cord paralysis, Knee clonus, Facial palsy, Ataxia, D...	OMIM:211530
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, P...	OMIM:608233
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Choreoacanthocytosis	Chorea, Lingual dystonia, Abnormal autonomic nervous system physiology, Limb dystonia, Head titub...	ORPHA:2388
Trichothiodystrophy	Gonadal dysgenesis, High, narrow palate, Macular degeneration, Recurrent bronchopulmonary infecti...	ORPHA:33364
Immunoglobulin A Vasculitis	Optic atrophy, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Arthritis, Skin rash, E...	ORPHA:761
Diffuse Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Arthritis, Dyspareunia, Carious teeth, Dysphagia, Autoimmunity, Xerostomia	ORPHA:220393
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Tongue fasciculations, Demyelinating peripheral neuropathy, Frequent falls, Head t...	ORPHA:99949
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Recurrent otitis media, Atelectasis, Recurrent lower ...	OMIM:620233
Hereditary Sensory And Autonomic Neuropathy Type 5	Anhidrosis, Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity	OMIM:252900
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Melena, Bloody diarrhea, Constipation, Atypical pulmonary carcinoid tumor, Carcinoi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Melena, Bloody diarrhea, Constipation, Atypical pulmonary carcinoid tumor, Carcinoi...	ORPHA:100082
Hypotrichosis With Juvenile Macular Degeneration	Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Acute Interstitial Pneumonia	Atelectasis, Pleural effusion, Interlobular septal thickening, Pulmonary fibrosis, Bronchiectasis...	ORPHA:79126
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Melena, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tumor, Weigh...	ORPHA:100080
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Combined Oxidative Phosphorylation Deficiency 25	Reduced circulating growth hormone concentration, Failure to thrive, Chronic constipation, Aspira...	OMIM:616430
Pancreatoblastoma	Jaundice, Diarrhea, Vomiting, Pancreatic calcification, Weight loss	ORPHA:677
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Loeffler Endocarditis	Pericarditis, Weight loss	ORPHA:75566
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Huntington Disease-Like 2	Weight loss	OMIM:606438
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Hereditary Pheochromocytoma-Paraganglioma	Episodic hyperhidrosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Tremor, Vocal co...	ORPHA:29072
Dyskeratosis Congenita, Digenic	Gastroesophageal reflux, Epiphora, Abnormality of the dentition, Decreased testicular size, Dysph...	OMIM:620040
Imerslund-Gräsbeck Syndrome	Glossitis, Angular cheilitis, Vomiting, Failure to thrive, Constipation, Weight loss	ORPHA:35858
Scheie Syndrome	Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93474
Antisynthetase Syndrome	Myocarditis, Keratoconjunctivitis sicca, Myositis, Arthritis, Skin rash, Dysphagia, Autoimmunity,...	ORPHA:81
Acute Liver Failure	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, D...	ORPHA:90062
Livedoid Vasculopathy	Lupus anticoagulant, Anemia, Pancytopenia, Superficial dermal perivascular inflammatory infiltrat...	ORPHA:542643
Progeroid Short Stature With Pigmented Nevi	Delayed puberty, Impaired T cell function, Vomiting, Esophageal ulceration, Diabetes mellitus, Al...	OMIM:176690
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Failure to thrive, Recurrent aspiration pneumonia, Thrombocytopenia, Spleno...	OMIM:230900
Giant Cell Arteritis	Optic atrophy, Gastrointestinal infarctions, Recurrent pharyngitis, Diabetes insipidus, Glossitis...	ORPHA:397
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Elevated gamma-glutamyltransferase level, H...	OMIM:608885
Carney-Stratakis Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Dysphagia, We...	ORPHA:97286
Acquired Hypertrichosis Lanuginosa	Glossitis, Chronic diarrhea, Macroglossia, Weight loss	ORPHA:2221
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Mucopolysaccharidosis Type 6	Chronic otitis media, Sinusitis, Failure to thrive, Splenomegaly	ORPHA:583
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hepatomegaly, Splenomegaly, Low alkaline phosphatase	OMIM:201100
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal abdome...	OMIM:216360
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Retinal peau d'orange, Choroidal neovascularization, Angioid streaks...	OMIM:264800
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Truncal ataxia, Spasticity, Tremor, Microvesicular hepatic steatosis, Vomiting, CNS demyelination...	OMIM:220111
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Lymphatic Filariasis	Knee osteoarthritis, Lymphadenitis, Abnormal lung morphology, Hydrocele testis, Abnormal scrotum ...	ORPHA:2035
Nasopalpebral Lipoma-Coloboma Syndrome	Epiphora	OMIM:167730
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis...	ORPHA:91347
Shwachman-Diamond Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Steatorrhea, Abnormality of ...	ORPHA:811
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Small for gestational age, Gastroesophageal reflux	ORPHA:79243
Erdheim-Chester Disease	Abnormal pulmonary interstitial morphology, Diabetes insipidus, Skin rash, Pleural effusion, Hype...	ORPHA:35687
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal ovarian morphology, Abnormal circulating pregnenolone concentration, De...	ORPHA:95699
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Retinal degeneration, Cryptorchidism, Rod-cone dystrophy, Abnormality of the endocrine system	ORPHA:166035
Yellow Fever	Hematemesis, Jaundice, Diarrhea, Skin rash, Acute pancreatitis, Elevated circulating alanine amin...	ORPHA:99829
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	High palate, Bilateral cryptorchidism, Bifid uvula, Recurrent pneumonia, Recurrent aspiration pne...	OMIM:300472
Hyperostosis Cranialis Interna	Epiphora	OMIM:144755
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Leber Congenital Amaurosis 15	Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat...	OMIM:613843
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Herpes simplex encephalitis, Complete or ...	OMIM:233600
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Autoimmune Hypoparathyroidism	Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism, Autoimmune antibody positivity,...	ORPHA:36913
Preeclampsia	Autoimmunity, Polycystic ovaries, Thrombocytopenia, Helicobacter pylori infection	ORPHA:275555
Marfan Syndrome	High, narrow palate, Emphysema, Retinal detachment, Cachexia, Spontaneous pneumothorax, Arthralgi...	ORPHA:558
Infantile Neuroaxonal Dystrophy	Optic atrophy, Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia, C...	ORPHA:35069
Acute Adrenal Insufficiency	Delayed puberty, Diarrhea, Adrenal hypoplasia, Recurrent acute respiratory tract infection, Andro...	ORPHA:95409
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Weight loss	ORPHA:514
Camurati-Engelmann Disease	Optic atrophy, Delayed puberty, Hepatomegaly, Optic nerve compression, Elevated circulating aldol...	ORPHA:1328
Benign Schwannoma	Abnormality of the liver, Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esoph...	ORPHA:252164
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Failure to th...	OMIM:603467
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Aspiration pneumonia, Hepatomegaly, Optic disc pallor	OMIM:619167
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Hepatomegaly, Anemia, Splenomegaly	OMIM:239200
Pemphigus Foliaceus	Oral ulcer, Abnormal oral mucosa morphology, Pustule, Erythroderma, Autoimmunity, Psoriasiform de...	ORPHA:79481
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Gastrointestinal hemorrhage, Melena, Episodic vomiting, Hepatocellular c...	OMIM:276700
Multiple Endocrine Neoplasia Type 1	Hematemesis, Duodenal ulcer, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocyto...	ORPHA:652
Congenital Tracheomalacia	Pneumothorax, Emphysema, Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, ...	ORPHA:95430
Ehlers-Danlos Syndrome, Periodontal Type, 1	Gingival fragility, Alveolar bone loss around teeth, Periodontitis, Premature loss of teeth, Ging...	OMIM:130080
Pulmonary Alveolar Microlithiasis	Pneumothorax, Pleural thickening, Hepatomegaly, Bronchitis, Testicular microlithiasis, Gonadal ca...	ORPHA:60025
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Skin rash, Gastrointestinal stroma tumor...	ORPHA:221
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Monoclonal immunoglobul...	ORPHA:33226
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Increased circulating dehydroepiandrosterone-sulfate concentration, Elevated ...	OMIM:201810
Andersen-Tawil Syndrome	Periodic paralysis, Hyperaldosteronism, Periodic hyperkalemic paralysis, Periodic hypokalemic par...	ORPHA:37553
Neurocutaneous Melanocytosis	Hemiparesis, Infectious encephalitis	ORPHA:2481
Rhabdoid Tumor	Neoplasm of the liver, Weight loss	ORPHA:69077
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Arthritis, Skin rash, Constipation, Pericarditis, Dysphagi...	ORPHA:93672
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Macular degeneration, Abnormal circulating enzyme concentration or activity	ORPHA:284289
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Chops Syndrome	Optic atrophy, High, narrow palate, Gastroparesis, Gastroesophageal reflux, Aspiration pneumonia,...	OMIM:616368
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology	ORPHA:281090
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos...	OMIM:259720
Familial Tumoral Calcinosis	Skin rash, Hepatomegaly, Neoplasm of the skin, Splenomegaly	ORPHA:53715
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Trisomy X	Constipation, Autoimmunity	ORPHA:3375
Neuroendocrine Tumor Of Stomach	Hematemesis, Intermittent diarrhea, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:100075
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lym...	ORPHA:99889
Gitelman Syndrome	Delayed puberty, Vomiting, Increased circulating renin level, Constipation, Ataxia, Paralysis	OMIM:263800
Late Infantile Neuronal Ceroid Lipofuscinosis	Retinal degeneration, Abnormal circulating enzyme concentration or activity	ORPHA:168491
Gelatinous Drop-Like Corneal Dystrophy	Epiphora	ORPHA:98957
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Lujo Hemorrhagic Fever	Myocarditis, Atelectasis, Elevated circulating hepatic transaminase concentration, Diarrhea, Skin...	ORPHA:319213
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Chronic diarrhea, Sinusitis, Abnormal platelet morphology, Hem...	ORPHA:906
Chronic Graft Versus Host Disease	Pneumothorax, Abnormal esophagus physiology, Gastroesophageal reflux, Diarrhea, Arthritis, Xerost...	ORPHA:99921
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Reduced leukocyte alpha-mannosidase activity, Decreased circulating alpha-mannosida...	OMIM:248500
Occipital Horn Syndrome	High, narrow palate, Jaundice, Abnormal esophagus physiology, Gastroparesis, Gastroesophageal ref...	ORPHA:198
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Infectious encephalitis	ORPHA:1194
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Decreased body weight, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splen...	OMIM:608013
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Poor fine motor coordination, Tre...	ORPHA:99956
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Increased serum...	OMIM:202010
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Optic atrophy, Vocal cord paresis, Decreased motor nerve conduction velocity, Axonal degeneration...	OMIM:601152
Hennekam-Beemer Syndrome	High palate, Mastocytosis, Vomiting, Failure to thrive, Pneumonia	ORPHA:2135
Schwartz-Jampel Syndrome	Elevated circulating aldolase concentration, Cachexia, Decreased body weight, High palate, Decrea...	ORPHA:800
Acute Radiation Syndrome	Diarrhea, Interstitial pneumonitis, Inflammatory abnormality of the skin, Vomiting	ORPHA:454831
Cockayne Syndrome Type 3	Hepatomegaly, Keratoconjunctivitis sicca, Elevated circulating hepatic transaminase concentration...	ORPHA:90324
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Hepatomegaly, Leukocytosis, Failure to thrive, Sple...	ORPHA:289157
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, High, narrow palate, Angioid streaks of the fundus, Macular degenera...	OMIM:177850
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Decreased circulating total IgG, Gastroesophageal reflux, Diarrhea, Art...	ORPHA:221139
Mucopolysaccharidosis Type 2	Optic atrophy, Hepatomegaly, Hip osteoarthritis, Chronic diarrhea, Retinopathy, Abnormal foveal m...	ORPHA:580
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Bile duct proliferation, Vo...	OMIM:203700
Klatskin Tumor	Jaundice, Hepatomegaly, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Huntington Disease	Decreased body mass index, Weight loss, Oral-pharyngeal dysphagia	ORPHA:399
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Dysphagia	ORPHA:684
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Hyperthyroidism, Periodic hypokalemic paresis	OMIM:170390
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Acute Promyelocytic Leukemia	Stomatitis, Diffuse alveolar hemorrhage, Weight loss	ORPHA:520
Biotinidase Deficiency	Decreased circulating biotinidase concentration, Hepatomegaly, Seborrheic dermatitis, Skin rash, ...	OMIM:253260
Atypical Werner Syndrome	Delayed puberty, Hypogonadism, Fasting hyperinsulinemia, Hepatic steatosis, Hyperinsulinemia, Ova...	ORPHA:79474
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Laryngeal Abductor Paralysis	Vocal cord paralysis, Dysphagia	OMIM:150260
Pachydermoperiostosis	Hepatomegaly, Anemia, Seborrheic dermatitis, Arthritis, Neoplasm of the skin, Neoplasm of the lun...	ORPHA:2796
Mucolipidosis Iii Alpha/Beta	Retinopathy, Retinal degeneration, Hepatomegaly, Increased iduronate sulfatase level	OMIM:252600
Stüve-Wiedemann Syndrome	Smooth tongue, Abnormality of the dentition, Hypohidrosis, Hypothyroidism, Hyperhidrosis, Lacrima...	ORPHA:3206
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Fasciculations, Tremor, Polyminimyoclonus, Vocal cord paresis, Dysphagia	OMIM:619574
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Retinitis Pigmentosa 97	Macular degeneration, Rod-cone dystrophy	OMIM:620422
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Vici Syndrome	Recurrent bacterial infections, Chronic mucocutaneous candidiasis, High palate, Cutaneous anergy,...	OMIM:242840
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal hyperte...	OMIM:620005
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatic hemangioma, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastro...	ORPHA:73230
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Failure to thrive, Osmotic diarrhea, Weight loss	ORPHA:35710
Alport Syndrome	Clitoral hypertrophy, Macular degeneration, Recurrent bronchitis, Vomiting, Nephritis, Dysphagia,...	ORPHA:63
Dyskeratosis Congenita, Autosomal Dominant 3	Gastrointestinal hemorrhage, Epiphora, Oral leukoplakia, Cryptorchidism, Esophageal stricture	OMIM:613990
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration, Abnormal circulating enzyme concentration or activity	ORPHA:79244
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Athetoid cerebral palsy, Lower limb spasticity, Gastroesophageal reflux, ...	OMIM:617799
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, High palate, Aspiration pneumonia	ORPHA:314655
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Delayed puberty, Abnormal vitreous humor morpho...	ORPHA:649
Arnold-Chiari Malformation Type I	Abnormality of the vestibulocochlear nerve, Babinski sign, Abnormality of the twelfth cranial ner...	ORPHA:268882
Mercury Poisoning	Interstitial pneumonitis, Episodic vomiting, Nausea	ORPHA:330021
Proteus Syndrome	Retinal hamartoma, Abnormal lung lobation, Bronchogenic cyst, Ovarian neoplasm, Pulmonary bulla, ...	ORPHA:744
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Recurrent otitis media, Anal stenos...	OMIM:251260
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Plague	Hematemesis, Mydriasis, Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infec...	ORPHA:707
Senior-Loken Syndrome 8	Retinal dystrophy, Intrahepatic bile duct dilatation, Hepatic cysts, Rod-cone dystrophy, Pancreat...	OMIM:616307
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Abnormal salivary gland morphology, Lacrimal gland aplasia, Epiphora, Abnormal d...	ORPHA:2363
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, Cholangitis, Retinal dystrophy, Macular degeneration, Cholestasis, Hepatic fibrosis...	OMIM:266920
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy	OMIM:212550
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Increased circulating lactate dehy...	ORPHA:747
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte...	ORPHA:731
Bloom Syndrome	Malar rash, Decreased circulating IgG level, Type II diabetes mellitus, Recurrent upper respirato...	OMIM:210900
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Myasthenia Gravis	Autoimmunity, Dysphagia	OMIM:254200
Arteriosclerosis, Severe Juvenile	Gastric ulcer	OMIM:208060
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Splenomegaly, Lipoma	OMIM:612918
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Multiple Myeloma	Increased circulating IgG level, Functional abnormality of the gastrointestinal tract, Increased ...	ORPHA:29073
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Retinal degeneration, Absent scrotum, Keratoconjunctivitis sicca	OMIM:618479
Williams Syndrome	Chronic otitis media, Everted lower lip vermilion, Tracheoesophageal fistula, Microdontia, Wide m...	ORPHA:904
Angioedema, Hereditary, 1	Diarrhea, Autoimmunity, Intestinal edema, Vomiting	OMIM:106100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Decreased response to growth hormone stimulation test, Absence of Stensen duct, Anal stenosis, Se...	OMIM:604292
Posterior Polymorphous Corneal Dystrophy	Lacrimation abnormality	ORPHA:98973
Perry Syndrome	Weight loss	ORPHA:178509
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium	ORPHA:436245
Say-Barber-Miller Syndrome	Optic atrophy, Panniculitis, Macular degeneration, High palate, Eczematoid dermatitis, Hypogonadi...	ORPHA:3132
Cornelia De Lange Syndrome 1	Optic atrophy, High, narrow palate, Hypospadias, Gastroesophageal reflux, Hypoplastic male extern...	OMIM:122470
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Rectovaginal fistula, Inflammation of the large intestine, Pulmonary hypoplasia, D...	OMIM:619708
Dyskeratosis Congenita, X-Linked	Cirrhosis, Epiphora, Premature loss of teeth, Decreased testicular size, Carious teeth, Blepharit...	OMIM:305000
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Decreased response to growth hormone stimulation test, Absence of Stensen duct, Rectovaginal fist...	OMIM:129900
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Eleva...	OMIM:618733
Charge Syndrome	Anterior hypopituitarism, Abnormal soft palate morphology, Delayed eruption of teeth, Gastroesoph...	ORPHA:138
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Cholestasis, Increased mean platelet volume, Failure to thrive...	OMIM:222470
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Nephronophthisis 11	Retinal degeneration, Hepatic fibrosis	OMIM:613550
Ileal Neuroendocrine Tumor	Intermittent diarrhea, Elevated circulating hepatic transaminase concentration, Episodic vomiting...	ORPHA:100078
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Arthritis, Gastric ulcer	OMIM:161700
Scheie Syndrome	Retinal degeneration	OMIM:607016
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Demyelinating peripheral neuropathy, Basal lamina onion bulb formation, Progressive...	ORPHA:2821
Encephalocraniocutaneous Lipomatosis	Hypertonia, Tetraplegia, Spasticity, Hemiparesis, Rigidity, Paralysis, Hemiplegia	ORPHA:2396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplastic male ex...	OMIM:236670
Autosomal Recessive Spastic Paraplegia Type 11	Retinal degeneration, Overweight, Obesity, Dysphagia	ORPHA:2822
Cone-Rod Dystrophy 6	Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat...	OMIM:601777
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion	OMIM:250410
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Recurrent otitis m...	OMIM:619525
Acquired Central Diabetes Insipidus	Weight loss, Diabetes insipidus	ORPHA:95626
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Episcleritis, Histiocytosis, Hepatosplenome...	OMIM:602782
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Severe failure to thrive, Cholelithiasis, Retinal atrophy, Vomit...	ORPHA:97297
Lynch Syndrome	Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo...	ORPHA:144
Ciliary Dyskinesia, Primary, 20	Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent si...	OMIM:615067
Vocal Cord And Pharyngeal Distal Myopathy	Mildly elevated creatine kinase, Decreased nerve conduction velocity, Vocal cord paresis, Dysphagia	ORPHA:600
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ...	ORPHA:85167
Isolated Osteopoikilosis	Autoimmunity, Discoid lupus rash, Cleft palate	ORPHA:166119
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Aganglionic megacolon, Gastroesophageal reflux, Spastic paraplegia, Constipation, ...	ORPHA:847
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration	ORPHA:101096
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Delayed puberty, Abnormal pulmonary interstitial morphology, Cirrhosis,...	ORPHA:77293
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Pulmonary edema, Elevated circulating hepatic transaminase concentration, Acute tubu...	ORPHA:340
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Hypospadias, Retinal dystrophy, Gastroes...	ORPHA:397715
Cryptogenic Organizing Pneumonia	Pneumothorax, Weight loss	ORPHA:1302
Kniest Dysplasia	Retinal detachment, Vitreoretinopathy, Lattice retinal degeneration, Degenerative vitreoretinopat...	ORPHA:485
Papillorenal Syndrome	Retinal detachment, Macular degeneration, Chorioretinal atrophy, Retinal coloboma, Optic disc col...	OMIM:120330
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Conjunctivitis, Reduced e...	OMIM:263700
Hypoplasminogenemia	Duodenal ulcer, Abnormal fallopian tube morphology, Periodontitis, Abnormality of the ovary, Cerv...	ORPHA:722
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Chikungunya	Peripheral nerve compression, Neuritis, Diarrhea, Arthritis, Skin rash, Synovitis, Vomiting, Enth...	ORPHA:324625
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
Osteopetrosis, Autosomal Recessive 7	Recurrent pneumonia, Hepatomegaly, Anemia, Splenomegaly	OMIM:612301
Gm1 Gangliosidosis Type 1	Aspiration pneumonia, Hepatosplenomegaly, Cherry red spot of the macula, Decreased beta-galactosi...	ORPHA:79255
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Cholecystitis	ORPHA:69665
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Cleft palate, Parathyroid hypoplasia, Abnormality of T cell physiology, Psori...	ORPHA:2237
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Gastroparesis, Constipation, Recurrent aspiration pneumonia, Dysphagia, ...	ORPHA:70
Short Syndrome	Diabetes mellitus, Abnormal pupil morphology, Weight loss, Hypoplasia of the iris	ORPHA:3163
Pearson Syndrome	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepa...	ORPHA:699
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy, Chorioretinal coloboma, Optic disc coloboma	OMIM:602499
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Aspiration pneumonia, Splenomegaly, Micronodular cirrhosis, ...	OMIM:301072
Amoebiasis Due To Free-Living Amoebae	Abnormality of the adrenal glands, Facial palsy, Sinusitis, Nausea, Hemiparesis, Pustule, Ataxia,...	ORPHA:68
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers, Chro...	ORPHA:477817
Seckel Syndrome	Cachexia	ORPHA:808
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:612132
Nasopalpebral Lipoma-Coloboma Syndrome	Epiphora	ORPHA:2399
Monosomy 18P	Autoimmunity, Cleft palate	ORPHA:1598
Oromandibular Dystonia	Dysphagia, Weight loss	ORPHA:93958
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Small intestinal dysmotility, Aspiration pneumonia, Ineffective esophage...	OMIM:619482
Tay-Sachs Disease	Optic atrophy, Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, Preco...	ORPHA:845
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Knobloch Syndrome	Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration, Vitreoretinopathy, ...	ORPHA:1571
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Reduced pancreatic beta cells, Failure to thrive, Weight loss, Neonatal in...	ORPHA:99885
Dyskeratosis Congenita, Autosomal Dominant 1	Cirrhosis, Bone marrow hypocellularity, Hepatic necrosis, Pulmonary fibrosis, Interstitial pneumo...	OMIM:127550
Peripartum Cardiomyopathy	Increased circulating interferon-gamma concentration, Autoimmunity, Myocarditis	ORPHA:563
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Retinal atrop...	ORPHA:2785
Cystinosis, Nephropathic	Delayed puberty, Male infertility, Hepatomegaly, Primary hypothyroidism, Retinopathy, Hypohidrosi...	OMIM:219800
X-Linked Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Elevated circulating creatine kinase concentration	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Elevated circulating creatine kinase concentration	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Elevated circulating creatine kinase concentration	ORPHA:98853
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Reticular pattern on pulmonary HRCT, Hemos...	OMIM:233450
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Weight loss	OMIM:256700
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Hepatosplenomegaly, Optic nerve compression	OMIM:259730
Liposarcoma	Weight loss	ORPHA:69078
Velocardiofacial Syndrome	Hypoparathyroidism, Pulmonary artery atresia, Impaired T cell function, Velopharyngeal insufficie...	OMIM:192430
Congenital Fiber-Type Disproportion Myopathy	High palate, Aspiration pneumonia, Failure to thrive, Dysphagia, Weight loss, Recurrent respirato...	ORPHA:2020
Cholera	Diarrhea, Achlorhydria, Vomiting, Aspiration pneumonia	ORPHA:173
Renal Nutcracker Syndrome	Infertility, Dyspareunia, Vulval varicose vein, Varicocele, Nausea, Dysmenorrhea, Weight loss	ORPHA:71273
Neurofibroma	Abnormal biliary tract morphology, Recurrent otitis media, Multiple intestinal neurofibromatosis,...	ORPHA:252183
Congenital Erythropoietic Porphyria	Squamous cell carcinoma, Neoplasm of the skin, Keratoconjunctivitis, Recurrent bacterial skin inf...	ORPHA:79277
Beta-Ketothiolase Deficiency	Diarrhea, Hepatomegaly, Weight loss, Vomiting	ORPHA:134
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Abnormality of th...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Abnormality of th...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Abnormality of th...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Abnormality of th...	ORPHA:93924
Bickerstaff Brainstem Encephalitis	Pneumonia, Autoimmune antibody positivity, Respiratory tract infection, Recurrent gastroenteritis	ORPHA:79138
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Decreased response to growth hormone stimulatio...	ORPHA:1435
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Chronic constipation, Rec...	OMIM:253200
Marshall-Smith Syndrome	Optic nerve hypoplasia, Decreased body weight, Glossoptosis, Aspiration pneumonia, Bilateral cryp...	OMIM:602535
Distal Renal Tubular Acidosis	Paralysis, Diarrhea, Vomiting, Constipation	ORPHA:18
Spinocerebellar Ataxia Type 7	Abnormal fundus morphology, Macular degeneration, Cone/cone-rod dystrophy, Failure to thrive, Dys...	ORPHA:94147
Alpha-Mannosidosis, Infantile Form	Abnormal circulating enzyme concentration or activity, Recurrent gastroenteritis, Hepatosplenomeg...	ORPHA:309282
Opitz Gbbb Syndrome	Hypospadias, Ectopic anus, Thyroglossal cyst, Bifid scrotum, Bicornuate uterus, Tracheoesophageal...	ORPHA:2745
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Cleft palate, Recurrent aspiration pneumonia, Cryptorchidism, Duodenal atresia	OMIM:247200
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Degcags Syndrome	Hepatomegaly, Hypospadias, Oral-pharyngeal dysphagia, Gastroesophageal reflux, Cholestasis, Abnor...	OMIM:619488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, B lymphocytopenia, Seborrheic dermatitis, Pancreatic hypoplasia, Su...	ORPHA:83617
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Vocal cord paresis	OMIM:606071
Mucolipidosis Type Ii	Hepatosplenomegaly, Splenomegaly, Otitis media, Weight loss, Recurrent respiratory infections	ORPHA:576
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Gastroesophageal reflux, Delayed peripheral myelination	OMIM:605039
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Aspiration pneumonia, Increased circulat...	ORPHA:94093
8P23.1 Microdeletion Syndrome	Pulmonary artery stenosis, Obesity, High palate, Weight loss	ORPHA:251071
Digeorge Syndrome	Seborrheic dermatitis, Recurrent sinusitis, Bifid uvula, Splenomegaly, Abnormal thymus morphology...	OMIM:188400
Adult-Onset Autosomal Dominant Leukodystrophy	Erectile dysfunction, Impotence, Aspiration pneumonia, Anhidrosis, Constipation, Dysphagia, Decre...	ORPHA:99027
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Anorectal anomaly, Seborrheic dermatitis, Bowe...	ORPHA:567
Severe Generalized Junctional Epidermolysis Bullosa	Pneumothorax, Gastrointestinal inflammation, Pyoderma, Vomiting, Constipation, Failure to thrive,...	ORPHA:79404
Extracranial Carotid Artery Aneurysm	Arteritis, Opportunistic infection, Extrapulmonary tuberculosis, Autoimmunity, Severe infection	ORPHA:494424
Chronic Thromboembolic Pulmonary Hypertension	Lupus anticoagulant, Antiphospholipid antibody positivity, Myeloproliferative disorder, Inflammat...	ORPHA:70591
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal optic nerve morphology, Weight loss, Pulmonary fibrosis, Me...	ORPHA:79430
Microgastria-Limb Reduction Defect Syndrome	Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula...	ORPHA:2538
Pineoblastoma	Paralysis, Papilledema	ORPHA:251909
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Hypospadias, Gastroesophageal reflux, Retinopathy, Failure to thrive, Obesity, Int...	ORPHA:353281
Wolfram Syndrome	Constipation, Gastrointestinal hemorrhage, Gastric ulcer	ORPHA:3463
Corneal Dystrophy, Posterior Polymorphous, 1	Epiphora	OMIM:122000
Hepatoerythropoietic Porphyria	Abnormal circulating enzyme concentration or activity, Keratoconjunctivitis, Recurrent bacterial ...	ORPHA:95159
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Dysphagia	ORPHA:247234
Beckwith-Wiedemann Syndrome	Large for gestational age, Rhabdomyosarcoma, Hepatomegaly, Enlarged kidney, Abnormal pancreas mor...	ORPHA:116
Castleman Disease	Intestinal obstruction, Jaundice, Weight loss, Abnormality of the gastrointestinal tract	ORPHA:160
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Autoimmunity, Recurrent otitis media, Gastroesophageal reflux	ORPHA:449291
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Perry Syndrome	Weight loss	OMIM:168605
Neuroblastoma	Chronic diarrhea, Weight loss, Elevated circulating catecholamine level	ORPHA:635
Fanconi Anemia	Meckel diverticulum, Tracheoesophageal fistula, Hypogonadism, Aganglionic megacolon, Hypospadias,...	ORPHA:84
Tropical Endomyocardial Fibrosis	Cachexia, Hepatomegaly, Splenomegaly, Autoimmune antibody positivity	ORPHA:75565
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Retinal degeneration, Dysphagia, Pigmentary retinopathy	OMIM:234200
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Cry...	OMIM:154500
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Uterine prolapse, Peripheral pulmonary artery stenosis, Emphysema	OMIM:123700
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ...	ORPHA:141127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Retinal dysplasia, Retinal atrophy, Hypoplasia of the retina, Retinal degeneration	OMIM:253280
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Accessory spleen	OMIM:236680
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Bowel incontinence, Abnormal duodenum morphology, Abnormal stomach m...	ORPHA:512
Coffin-Siris Syndrome	Hypospadias, Papillary thyroid carcinoma, Aspiration pneumonia, Recurrent upper respiratory tract...	ORPHA:1465
Esophageal Atresia	Hypertonia, Maternal diabetes, Gastroesophageal reflux, Esophagitis, Vomiting, Vocal cord paresis...	ORPHA:1199
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypospadias, Gastroesophageal reflux, Glos...	ORPHA:444077
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Rectovestibular fistula, Anal stenosis, Gastroesophageal reflux, High palate, Anal atresia, Bleph...	ORPHA:280633
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Dysphagia, Gastroparesis, Intestinal pseudo-obstruction	OMIM:607459
Doors Syndrome	Adrenal hyperplasia, Thrombocytosis, Aspiration pneumonia, Congenital hypothyroidism	ORPHA:79500
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi...	ORPHA:508533
Hereditary Late-Onset Parkinson Disease	Weight loss, Dysphagia, Chronic constipation	ORPHA:411602
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Aspiration pneumonia, Abnormal lung morphology, Low cholesterol esterific...	ORPHA:646
Kabuki Syndrome 1	Recurrent otitis media, Anal stenosis, Anoperineal fistula, High palate, Anal atresia, Premature ...	OMIM:147920
Acute Transverse Myelitis	Gastroparesis, Invasive parasitic infection, Severe viral infection, Constipation, Paralytic ileu...	ORPHA:139417
Persistent Hyperplastic Primary Vitreous	Epiphora	ORPHA:91495
Atrial Septal Defect, Ostium Secundum Type	Pneumonia	ORPHA:99103
Arboleda-Tham Syndrome	Optic atrophy, Chronic otitis media, Recurrent otitis media, Gastroesophageal reflux, Bilateral c...	OMIM:616268
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Weight loss	OMIM:301310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Hypospadias, Gastroesophageal reflux, High palate, Intestinal malrotation, Failure...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Hypospadias, Gastroesophageal reflux, High palate, Intestinal malrotation, Failure...	ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Gastroesophageal reflux, Abnormality of the endocrine system, Aspiration pneumonia, Hypothyroidis...	ORPHA:438213
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Increased serum testosterone level, Long penis, Hypoplasia of the thymus, Failure to...	OMIM:264090
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Aicardi-Goutières Syndrome	Panniculitis, Increased circulating interferon-gamma concentration, Arthritis, Myositis, Chilblai...	ORPHA:51
Feingold Syndrome 1	Annular pancreas, Accessory spleen, Vocal cord paralysis, Asplenia, Polysplenia	OMIM:164280
Fontaine Progeroid Syndrome	Pneumothorax, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Protruding to...	OMIM:612289
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Optic atrophy, Unilateral vocal cord paralysis	ORPHA:324540
Coffin-Siris Syndrome 1	Duodenal ulcer, High palate, Intestinal malrotation, Cleft palate, Intussusception, Gastric ulcer	OMIM:135900
Oculopharyngodistal Myopathy 1	High palate, Dysphagia, Weight loss	OMIM:164310
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela...	ORPHA:740
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Osteoarthritis, Autoimmunity, ...	OMIM:619656
Hereditary Sensory And Autonomic Neuropathy Type 4	Anhidrosis, Hyperhidrosis, Recurrent aspiration pneumonia, Dysphagia, Septic arthritis, Fasciitis...	ORPHA:642
Codas Syndrome	Vocal cord paresis, Gastroesophageal reflux	OMIM:600373
Acrofacial Dysostosis, Cincinnati Type	Recurrent otitis media, Lower limb spasticity, Vocal cord paralysis, Abnormality of coordination,...	OMIM:616462
Williams-Beuren Syndrome	Recurrent otitis media, Gastroesophageal reflux, Incoordination, Vocal cord paralysis, Portal hyp...	OMIM:194050
Van Esch-O'Driscoll Syndrome	Unilateral vocal cord paralysis, Spasticity, Hypogonadotropic hypogonadism	OMIM:301030
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Abnormal liver parenchyma morphol...	ORPHA:79318
Primary Fanconi Renotubular Syndrome	Weight loss, Pulmonary fibrosis	ORPHA:3337
Yunis-Varon Syndrome	Severe failure to thrive, Hypospadias, High palate, Aspiration pneumonia, Pyloric stenosis, Failu...	OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Life Stage
Salivary gland - MPATH pathological process term inflammation	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult
Ovary - MPATH pathological process term developmental dysplasia	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult
Ovary - MPATH pathological process term hypoplasia	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Aire.

No publications found that use IMPC mice or data for Aire.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Aire^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Aire^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Aire^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Aire^{tm1.1(NCOM)Mfgc}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Aire MGI:1338803

Gene Summary

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