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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
decreased prepulse inhibition	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult	1.52×10^-05
abnormal cholesterol homeostasis	Aire^{tm1.1(NCOM)Mfgc}	HET	Early adult	1.45×10^-08
increased monocyte cell number	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult	7.67×10^-05
abnormal eye morphology	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult	0.00
abnormal retina morphology	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult	2.01×10^-05

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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 Lateral Orientation

17 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

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Eye Morphology

Images Ophthalmoscopy

13 Images

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Histopathology

Images

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

17 Images

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Gross Pathology and Tissue Collection

Images

16 Images

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X-ray

XRay Images Skull Lateral Orientation

17 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Immunophenotyping

Panel B FCS file(s)

8 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 (1920 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		Atrophic gastritis, Chronic active hepatitis, Asplenia, Perifoveal ring of hyperautofluorescence,...	OMIM:240300
Autoimmune Polyendocrinopathy Type 1		Hypoparathyroidism, Adrenal hyperplasia, Autoimmunity, Primary adrenal insufficiency, Chronic muc...	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 otitis media, Recurrent pneumonia	OMIM:243110
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Follicular hyperplasi...	OMIM:614470
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-losing enteropathy,...	OMIM:619079
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Eczema, Celiac disease, Increased circulating IgE l...	OMIM:618985
Melioidosis	Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, Abnormal...	ORPHA:31202
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Rec...	OMIM:614379
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto...	OMIM:616871
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:619375
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Immunodeficiency 18	Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre...	OMIM:615615
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Inflammation of the large intestine, Decreased circulating IgG level, Hepatom...	ORPHA:436159
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia, Myelodysplasia	OMIM:162830
Congenital Pancreatic Cyst	Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Gastric Cancer	Stomach cancer	OMIM:613659
Idiopathic Achalasia	Bronchitis, Wheezing, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Recurrent aspiratio...	ORPHA:930
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity, Malabsorption, Recurrent infections, Recurrent in...	OMIM:137100
Autoimmune Thyroid Disease, Susceptibility To, 3	Thyroiditis	OMIM:608175
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju...	OMIM:614700
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ...	OMIM:613495
Immunodeficiency 24	Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S...	OMIM:615897
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the parathyroid gland...	ORPHA:2552
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Inflammation of the large...	ORPHA:2137
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Oral ulcer, Colit...	OMIM:616744
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, B-cell lymph...	OMIM:619924
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count, Chronic oral candidiasis	OMIM:615592
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T...	OMIM:618982
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Cap Polyposis	Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation, Colorectal polyposis	ORPHA:160148
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ...	ORPHA:183675
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, ...	ORPHA:37042
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Immunodeficiency 48	Recurrent respiratory infections, Failure to thrive, Hepatomegaly, Pneumonia, Splenomegaly, Diarr...	OMIM:269840
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Uveitis, Abn...	OMIM:612387
Neuromyelitis Optica Spectrum Disorder	Nausea, Autoimmune antibody positivity, Paraplegia, Optic neuritis, Peripheral demyelination, Mye...	ORPHA:71211
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Chronic bronchitis	OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmuni...	OMIM:609529
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immune Thrombocytopenia	Platelet antibody positive, Thrombocytopenia	OMIM:188030
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperiton...	ORPHA:64744
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis	OMIM:312863
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine...	OMIM:619281
Lipase Deficiency, Combined	Type II diabetes mellitus, Pancreatitis	OMIM:246650
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ...	ORPHA:60033
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity, Follicular hyperplasia	ORPHA:60026
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Autoimmunity, Portal hypertensi...	ORPHA:228426
Candidiasis, Familial, 1	Abnormality of the endocrine system, Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Autoimmunity, ...	ORPHA:1546
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Chylous Ascites	Abnormal intestine morphology, Pancreatitis	ORPHA:1160
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Increased circulating IgA level, Splenomegaly, Thyroiditis, Uveitis, Increased circ...	OMIM:617388
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Hashimoto thyroiditis, Fulminant hepatitis, Jaundice...	OMIM:618549
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Gastr...	OMIM:608971
Mantle Cell Lymphoma	Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Mahvash Disease	Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Obesity, Bro...	OMIM:615993
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphoma, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of cla...	OMIM:619126
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn...	ORPHA:141152
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, D...	ORPHA:2494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestat...	ORPHA:65682
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis	OMIM:216950
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Perifoveal ring of hyperautofluorescence,...	OMIM:240300
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607734
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect...	ORPHA:1303
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme...	ORPHA:206594
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Autoimmune t...	ORPHA:227990
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Oral ulcer, EBV encephalitis, U...	OMIM:615122
Granulomatosis With Polyangiitis	Sinusitis, Otitis media, Cough, Chronic otitis media, Abnormality of the hypothalamus-pituitary a...	ORPHA:900
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Hepatomegaly, Skin rash, Pneumonia, Reduced natural killer cell ...	OMIM:300400
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Cough, Dys...	ORPHA:139402
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Chronic diarrhea, Bronchiectasis, Recurrent pne...	OMIM:300755
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Hash...	ORPHA:227982
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Asthma, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Bronchie...	OMIM:617638
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Dyspnea, Wheezing, C...	OMIM:613490
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ...	OMIM:619164
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity...	OMIM:617006
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Failure to thriv...	OMIM:601457
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Autoimmune ...	OMIM:300853
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Omenn Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Chronic diarrhea, Thyroiditis, Erythroderma,...	ORPHA:39041
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in ...	OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Skin rash, Failure to thrive in infancy	OMIM:619175
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Pneumonia, Recurrent skin ...	ORPHA:486
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Immunodeficiency, Common Variable, 2	Impaired T cell function, Autoimmunity, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent ...	OMIM:240500
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Malabsorption, Hypothyroidism, At...	ORPHA:83471
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Lacrimation abnormality, Cleft palate, Hypohidrosis	ORPHA:1484
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiecta...	OMIM:615207
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, B...	OMIM:607594
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Optic disc pallor, Dystonia, Tetraparesis, Dysphagia, Pancreatitis	OMIM:618230
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopathy, Juvenile ...	ORPHA:85414
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections	OMIM:618806
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Roussy-Levy Hereditary Areflexic Dystasia	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:180800
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Celiac disease, Abnormality of the thyroid gland, Primary adrenal insufficien...	ORPHA:3143
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea...	ORPHA:79084
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Conjunctivitis, Skin rash, Uveitis	OMIM:120100
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Keratitis, Orchitis, Abnormal lung morphology, Abnormality of the anterio...	ORPHA:449563
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Diencephalic Syndrome	Cachexia, Long penis, Optic atrophy, Hyperhidrosis, Decreased body weight, Abnormality of the hyp...	ORPHA:1672
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Increased circulating antibody level, Pneumonia	OMIM:247800
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re...	OMIM:612444
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ...	OMIM:618963
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Recurrent respiratory infections, Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Shawl ...	ORPHA:2575
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Recurrent opportunistic infections...	ORPHA:277
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:614895
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Dysphagia, Hyp...	ORPHA:97285
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis	OMIM:620137
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis...	ORPHA:169160
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Diarrhea, Hematochezia, ...	ORPHA:263665
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis...	ORPHA:449395
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Ciliary Dyskinesia, Primary, 41	Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ...	OMIM:618449
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Segmental peripher...	OMIM:162500
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Chronic oral candidiasis, Skin rash, Recurrent aphthous stomatit...	ORPHA:275
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Autoimmu...	ORPHA:809
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Recurrent pneumonia, Optic atrophy, Restrictive ventilator...	OMIM:602271
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gou...	OMIM:232240
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Chronic diarrhea, Elevated circulating alanine aminot...	OMIM:618805
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen...	ORPHA:158061
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Peroxisome Biogenesis Disorder 8B	Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tremor, Dysme...	OMIM:614877
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Microscopic Polyangiitis	Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit...	ORPHA:727
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Dyspnea, Diarrhea, Splenomegaly, Uveitis, Arthritis, Restr...	ORPHA:36412
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R...	ORPHA:51636
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Arthritis, Restrictive ventilatory ...	ORPHA:575
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in...	ORPHA:572
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A...	OMIM:607115
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Thyroiditis, Angioid streaks of the fundus, Furrowed tongue...	OMIM:615108
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Arth...	ORPHA:397596
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:300991
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi...	OMIM:601098
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin...	OMIM:605285
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Malabso...	ORPHA:47
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Di...	ORPHA:39812
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
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
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:608644
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Thyroiditis, Angioid streaks of the fundus, Furrowed tongue...	OMIM:615109
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:3363
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Primary Sclerosing Cholangitis	Acute hepatic failure, Uveitis, Hepatic fibrosis, Elevated alkaline phosphatase of hepatic origin...	ORPHA:171
Igg4-Related Submandibular Gland Disease	Cholangitis, Autoimmunity, Retroperitoneal fibrosis, Prostatitis, Xerostomia, Abnormal pancreas m...	ORPHA:449432
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Optic atrophy, CNS hypomyelination, Progressive spas...	ORPHA:280234
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Axonal loss, Abnormali...	OMIM:617672
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro...	OMIM:209920
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu...	ORPHA:85410
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ...	ORPHA:86893
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Malabsorption, Diarrhea, Weight loss, Decreased circ...	ORPHA:33355
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Frequent falls,...	OMIM:618279
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Vomiting...	ORPHA:31204
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Small for gestational age, Chronic pancreatitis, Adrenal insufficiency...	OMIM:307030
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Keratoendotheliitis Fugax Hereditaria	Keratitis, Epiphora	OMIM:148200
Autoimmune Disease, Susceptibility To, 1	Hashimoto thyroiditis	OMIM:607836
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis	OMIM:617044
Vitreoretinopathy, Neovascular Inflammatory	Uveitis	OMIM:193235
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Optic disc hypoplasia, Aspiration pneumonia	OMIM:609528
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Decreased response...	OMIM:275400
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619386
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:607706
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Diar...	OMIM:607765
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte...	OMIM:266600
Familial Cold Autoinflammatory Syndrome 3	Recurrent sinopulmonary infections, Allergic rhinitis, Antinuclear antibody positivity, Asthma, R...	OMIM:614468
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Malabsorption, Myoca...	ORPHA:3452
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Psoriasiform dermatitis, Decreased serum insulin-like growt...	ORPHA:293978
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ...	DECIPHER:59
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:600882
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Infectious encephalitis, Autoimmune thrombocytopenia, Abnormality of the endocri...	ORPHA:391487
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Papulovesicular erupt...	ORPHA:330058
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Insulin-resistant diabetes mellitus, Autoimmune antibody posi...	ORPHA:411593
Celiac Disease, Susceptibility To, 1	Eczema, Celiac disease, Diarrhea, Thyroiditis, Weight loss, Vomiting, Recurrent aphthous stomatit...	OMIM:212750
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J...	ORPHA:103918
Sarcoidosis, Susceptibility To, 1	Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland morpholog...	OMIM:181000
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia	OMIM:268010
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Gastrointestinal dysmotility, Hypohidrosis, Recurrent skin infections, Decreased lacrimation	OMIM:616488
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis, Abnormal pro...	OMIM:212050
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Krabbe Disease	Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Vomi...	OMIM:245200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Optic atrophy, Failure to thrive, Pancreatitis	ORPHA:79312
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S...	OMIM:606777
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, Pancreatitis	ORPHA:289916
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Neonatal Alloimmune Neutropenia	Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Pneumon...	ORPHA:464370
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Nephritis, P...	ORPHA:449427
Dietary Iron Overload Disease	Viral hepatitis, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Peritonitis, Esophageal carc...	ORPHA:139507
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Failure to thrive	OMIM:230350
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal loss, Clusters of axo...	ORPHA:101097
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte...	ORPHA:1164
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Dyspnea, Splenomegaly, Hyperhidrosis, Restrictive venti...	ORPHA:83317
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent...	OMIM:620282
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ...	OMIM:618987
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hepatiti...	OMIM:304790
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Dysphagia,...	OMIM:249900
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatitis, Exo...	OMIM:167800
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:145900
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Weight loss	ORPHA:79238
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Impotence, Gastroesophageal reflux, Alacrima	OMIM:608088
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod...	OMIM:615206
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive	ORPHA:172
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Neutral Lipid Storage Myopathy	Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Obesity, Pineal cyst, Cholecystitis, Hepat...	ORPHA:98908
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis, Hypohidrosis	ORPHA:363523
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Bowel incontinence, Babinski sign, Pseudobulbar paral...	OMIM:169500
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Thyroiditis, Angioid streaks of the fundus, Furrowed tongue...	OMIM:158350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Weight loss, Increased serum serot...	ORPHA:100083
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Diarrhea, Cardiorespiratory arrest, Weight loss, Cough, Pl...	ORPHA:188
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Weight loss, Inflammation of the large intestine	OMIM:191390
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Diarrhea, Chronic constipation, Inflammation of t...	OMIM:301074
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Rheumatoid factor positive, Eczema, Anal fissure, Perianal abscess, Lymphaden...	OMIM:618935
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Immunodeficiency 25	Recurrent herpes, Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circula...	OMIM:610163
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy...	ORPHA:71277
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Recessive Mitochondrial Ataxia Syndrome	Ataxia, Dysmetria, Dysphagia, Abnormality of central motor conduction, Limb dysmetria, Hashimoto ...	ORPHA:94125
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Bloom Syndrome	Bronchitis, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulating...	ORPHA:125
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Reduced forced expiratory volume in one second, Reduced forced vita...	OMIM:219700
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma...	OMIM:615617
Kilquist Syndrome	Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teeth, Wide mouth, Chronic ...	OMIM:619080
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Jaundice, Recurrent pancreatitis, Pancreat...	ORPHA:676
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobac...	ORPHA:98813
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap...	OMIM:250100
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Bronchitis, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Bronchiectas...	OMIM:619381
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Aspergillosis	Chronic lung disease, Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pu...	ORPHA:1163
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Celiac disease, D...	OMIM:615952
Charcot-Marie-Tooth Disease, Type 4A	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:214400
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Recurrent pancreati...	OMIM:145001
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Alopecia Areata 1	Autoimmunity	OMIM:104000
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decreased acid sphingomyeli...	OMIM:607616
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi...	ORPHA:85436
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Immunodeficiency 62	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:618459
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect...	OMIM:611884
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu...	OMIM:614102
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118200
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp...	OMIM:209950
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p...	OMIM:182815
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s...	ORPHA:733
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation, Impaired oropharyngeal swallow response...	ORPHA:98916
Shigellosis	Failure to thrive in infancy, Pneumonia, Intestinal perforation, Myocarditis, Peritonitis, Uveiti...	ORPHA:810
Retinal Dystrophy And Microvillus Inclusion Disease	Optic disc pallor, Chronic diarrhea, Recurrent upper respiratory tract infections, Bronchiectasis...	OMIM:619446
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis	ORPHA:91546
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration, Recurrent bronchopulmonary infections	ORPHA:85334
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,...	ORPHA:781
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Malt Lymphoma	Recurrent respiratory infections, Abnormality of the thyroid gland, Hyperhidrosis, Weight loss, C...	ORPHA:52417
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:615481
Cach Syndrome	Dysmyelinating leukodystrophy, Optic atrophy, Spastic diplegia, Dysmetria, Limb ataxia, Hemipares...	ORPHA:135
Myasthenia Gravis	Myositis, Hyperthyroidism, Dyspnea, Anti-acetylcholine receptor antibody positivity, Primary adre...	ORPHA:589
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Microcytic anemia, Erythema nodosum, Thrombocytopenia, Splenomegaly, Epididymitis, ...	OMIM:256040
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Pancreatitis	ORPHA:27
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrophage colony sti...	OMIM:610910
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Hypogonadotrop...	OMIM:604168
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Ataxia, Peripheral demyelination, Dystonia	OMIM:616684
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Autoimmunity	OMIM:612227
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Microlissencephaly	Pneumonia	ORPHA:1083
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Wolman Disease	Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Esophageal varix, Adrenal insufficie...	ORPHA:75233
Juvenile Xanthogranuloma	Abnormal oral mucosa morphology, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative diso...	ORPHA:158000
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Atelecta...	OMIM:620321
Antiphospholipid Syndrome, Familial	Retinal detachment, Autoimmune thrombocytopenia, Keratitis, Vitritis, Central retinal artery occl...	OMIM:107320
Idiopathic Pulmonary Fibrosis	Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Gastroesoph...	ORPHA:2032
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118210
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Lymphad...	OMIM:308240
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss...	OMIM:613662
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Increased circulating IgG level, A...	ORPHA:1304
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B...	OMIM:617092
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat...	OMIM:608184
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Oral-pharyngeal dysphagia	OMIM:616287
Pfapa Syndrome	Hepatomegaly, Malabsorption, Recurrent pharyngitis, Splenomegaly, Weight loss, Arthritis, Infecti...	ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Cernunnos-Xlf Deficiency	Recurrent viral infections, Recurrent bacterial infections, Autoimmunity, Decreased circulating a...	ORPHA:169079
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph...	OMIM:601596
Cinca Syndrome	Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly, Uveitis, Lymp...	ORPHA:1451
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,...	ORPHA:77297
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ...	ORPHA:497764
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Eczema, Small for gestational age, Increased circulating IgE level,...	OMIM:617241
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Respiratory insufficiency, Weight loss, I...	ORPHA:26790
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody posi...	ORPHA:79078
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep...	OMIM:614602
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Lip...	OMIM:615947
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Pyloric ste...	OMIM:615577
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis media, Fail...	OMIM:613501
Legionnaires Disease	Pericarditis, Abnormal pleura morphology, Myocarditis, Diarrhea, Abnormal lung morphology, Recurr...	ORPHA:549
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Hypereosinophi...	OMIM:615387
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Generalized Pustular Psoriasis	Pustule, Overweight, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosis, Erythroderm...	ORPHA:247353
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas...	OMIM:612649
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Diarrhea, Weight loss, Vomiting, Failure to thrive	OMIM:612075
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Sandhoff Disease	Splenomegaly, Hepatomegaly, Failure to thrive	ORPHA:796
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot...	ORPHA:298
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Comedonal acne, Peripheral retinal atrophy	OMIM:615147
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl...	OMIM:615035
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Crimean-Congo Hemorrhagic Fever	Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbil...	ORPHA:99827
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:118220
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Optic atrophy, Respiratory failure, Asp...	OMIM:619057
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Recurrent pharyng...	ORPHA:32960
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Speech apraxia, Lower limb spasticity, Postural tremor, Rigidity, Iridocyclitis, Hand tremor, Lim...	ORPHA:412057
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Erythroderma, Cirrhosis, Decreased lacrimation	OMIM:242150
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst...	OMIM:301080
Riboflavin Transporter Deficiency	Optic disc pallor, Cachexia, Respiratory insufficiency, Hypogonadism, Abnormality of macular pigm...	ORPHA:97229
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Lacrimation abnormality, Cleft palate, Tooth agenesis, High palate	ORPHA:1135
Cockayne Syndrome Type 2	Delayed eruption of primary teeth, Cryptorchidism, Hypoplasia of the primary teeth, Uveitis, Wide...	ORPHA:90322
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Eczema, Reduced natural killer cell activity	OMIM:614493
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Cd8 Deficiency, Familial	Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Decreased circulating antibody...	OMIM:614069
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Atelectasis, Dyspnea, He...	ORPHA:728
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:435651
Bardet-Biedl Syndrome 4	External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal d...	OMIM:615982
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, De...	OMIM:193670
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Dystonia	OMIM:250850
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Acute pancreatitis, Hepatomegaly	OMIM:608600
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropa...	OMIM:613502
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T...	ORPHA:2386
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, U...	ORPHA:85408
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Ch...	OMIM:600802
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis	OMIM:608634
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s...	OMIM:613101
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Motor cond...	ORPHA:2932
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi...	OMIM:243150
Ciliary Dyskinesia, Primary, 34	Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B...	OMIM:617091
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Keratitis, Hereditary	Keratitis	OMIM:148190
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F...	ORPHA:264675
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa...	ORPHA:545
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Dystonia, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Le...	ORPHA:431361
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusitis, Recurrent bron...	OMIM:604571
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop...	OMIM:612541
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Arthritis, ...	OMIM:186580
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Chorioretinitis, Iritis	OMIM:109650
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Xerostomia, Widely spaced teeth, Enamel hypoplasia, Alacrima	OMIM:620193
Avian Influenza	Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c...	ORPHA:454836
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Conjunctivitis, Hypodontia, Microdontia, Alacrima	OMIM:620192
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti...	OMIM:612692
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Lacrimation abnormality, Hypohidrosis	ORPHA:1882
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma	OMIM:619182
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B...	ORPHA:411703
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Asthma, Xerostomia, Weig...	OMIM:617321
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Butyrylcholinesterase Deficiency	Abnormality of the liver, Paralysis	ORPHA:132
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Gastroesophageal reflux, Retinal degeneration	OMIM:617173
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomega...	ORPHA:79259
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Peripheral axonal neuropathy, Paralysis	OMIM:613710
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Hepatomegaly, Failure to thrive in infancy, Autoimmunity, Porta...	OMIM:613385
Propionic Acidemia	Hepatomegaly, Apnea, Eczema, Tachypnea, Constipation, Vomiting, Propionyl-CoA carboxylase deficie...	OMIM:606054
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Respiratory tract infection, Secretory diarrhea, Bronchi...	OMIM:619445
Lethal Congenital Contracture Syndrome 7	Facial diplegia, Oral-pharyngeal dysphagia, Paralysis	OMIM:616286
Porphyria, Acute Hepatic	Respiratory paralysis, Vomiting, Paralysis	OMIM:612740
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Cockayne Syndrome Type 1	Hepatomegaly, Delayed eruption of primary teeth, Abnormality of the dentition, Cryptorchidism, Di...	ORPHA:90321
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Chronic diarrhea...	OMIM:242700
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Alacrima, Abnormality of the dentition	OMIM:240000
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Decreased number of...	OMIM:162400
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri...	OMIM:611228
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE ...	OMIM:618523
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t...	OMIM:245590
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative co...	OMIM:618394
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Paralysis, Dysphagia, Athetosis, Axonal loss, Dystonia	OMIM:300857
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota...	OMIM:614878
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno...	OMIM:605253
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Autoimmunity, Primary adrenal insufficiency, Chronic muc...	ORPHA:3453
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutaneous candid...	OMIM:269200
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Cough, Dyspnea, Diarrhe...	ORPHA:319218
Senior-Loken Syndrome 9	Retinal dystrophy, Obesity, Cholestasis, Tubulointerstitial nephritis, Macular degeneration, Hypo...	OMIM:616629
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Alkaptonuria	Arthritis, Osteoarthritis, Prostatitis	ORPHA:56
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, B lymphocytopenia	OMIM:616941
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Hepatoblastoma, Small for gestational age, Splenomegaly...	ORPHA:84064
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Crackles, Nonproductive cough, Atelectasis, Dyspnea, W...	ORPHA:2902
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Isaacs Syndrome	Weight loss, Hyperhidrosis	ORPHA:84142
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Aicardi-Goutieres Syndrome 7	Hepatic steatosis, Atrophic gastritis, Hepatomegaly, Skin rash, Chilblains, Pneumonia, Hematemesi...	OMIM:615846
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, G...	ORPHA:83601
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard...	ORPHA:292
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronch...	OMIM:613807
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Chorioretinal atrophy, Decreased liver function, Acute hepatitis, Failure to thrive...	OMIM:238970
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Recurrent viral infections, Lymphadenitis, ...	ORPHA:331206
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Secretory diarrhea, Elevated gamma-glutamyltransferase level...	OMIM:619573
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Dysphagia, Hyperhidrosis, Neoplasm of the lung, Weight los...	ORPHA:1332
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopat...	ORPHA:2584
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosple...	ORPHA:444490
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Autoim...	ORPHA:199299
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic...	ORPHA:101111
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Achalasia, Alacrima, Dysphagia	OMIM:300858
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Horner Syndrome, Congenital	Congenital Horner syndrome, Paralysis	OMIM:143000
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination	OMIM:311070
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, I...	OMIM:242860
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Ceroid Lipofuscinosis, Neuronal, 3	Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration	OMIM:204200
Transketolase Deficiency	Hepatomegaly, Seborrheic dermatitis, Uveitis, Conjunctivitis, Type I diabetes mellitus	ORPHA:488618
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Diarrhea, Furrowed ton...	ORPHA:2930
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect...	ORPHA:79128
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Localized Scleroderma	Fasciitis, Abnormality on pulmonary function testing, Uveitis, Arthritis, Gastroesophageal reflux...	ORPHA:90289
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Bilateral cryptorchidism, Asthma, Obesity, Retinal va...	OMIM:619471
Bullous Pemphigoid	Diabetes mellitus, Psoriasiform dermatitis, Autoimmunity, Eczema, Weight loss	ORPHA:703
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp...	OMIM:616433
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi...	ORPHA:90117
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe...	OMIM:302800
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Caroli Syndrome	Elevated hepatic transaminase, Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Port...	ORPHA:480520
Vernal Keratoconjunctivitis	Punctate keratitis, Lacrimation abnormality	ORPHA:70476
Bardet-Biedl Syndrome 2	Diabetes mellitus, External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retina...	OMIM:615981
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na...	ORPHA:540
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Incr...	OMIM:616005
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Rod-cone dy...	ORPHA:79320
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613808
Charcot-Marie-Tooth Disease, Type 4H	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609311
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Immunodeficiency 54	Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red...	OMIM:609981
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa...	OMIM:235555
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Tubulointerstitial nephritis, Posterior synechiae of t...	ORPHA:279914
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Charcot-Marie-Tooth Disease Type 4G	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory...	ORPHA:99953
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Portal hypertension, Hepato...	OMIM:609136
Flynn-Aird Syndrome	Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes melli...	ORPHA:2047
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis	OMIM:207750
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypohidrosis, Constipation, Hypogonadis...	ORPHA:163746
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Tubulointerstitial nephritis, Vomiting, Failure to thrive, Pa...	OMIM:251000
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Anti-islet antigen-2 antibody positivity, Increased mean corpuscular volume, T-cell...	OMIM:620044
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Jaundice, Weight loss, Ovarian neopla...	ORPHA:370348
Variegate Porphyria	Constipation, Vomiting, Paralysis	OMIM:176200
Mccune-Albright Syndrome	Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert...	ORPHA:562
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo...	OMIM:203800
Sarcoidosis	Hemolytic anemia, Hyperthyroidism, Maculopapular exanthema, Eosinophilia, Erythema nodosum, Throm...	ORPHA:797
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Babinski sign, Axonal loss, Myoclonus, Apraxia, Spasticity, Peripheral demyelination	OMIM:221770
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Hashimoto thyroiditis, Reduced cir...	ORPHA:95512
Felty Syndrome	Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Hepatomegaly, Recurrent ...	ORPHA:47612
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Constipation, Menorrhagia	ORPHA:168816
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Optic disc pallor, Apnea, Episodic tachypn...	ORPHA:79264
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis, Recurrent gastroenteritis	OMIM:618648
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis, Lipemia retinalis	OMIM:238600
Seizures, Cortical Blindness, And Microcephaly Syndrome	Optic atrophy, Bronchiectasis	OMIM:616632
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p...	OMIM:618131
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Ab...	OMIM:619652
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Maple Syrup Urine Disease	Vomiting, Pancreatitis	OMIM:248600
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism, Peptic ulcer	OMIM:145981
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Mirizzi Syndrome	Elevated hepatic transaminase, Nausea, Jaundice, Gallbladder perforation, Elevated circulating al...	ORPHA:521219
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Autoimmunity, Gastr...	ORPHA:436252
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Diarrhea, Abnormal lactate dehydrogenase l...	ORPHA:42
Tularemia	Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulati...	ORPHA:3392
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Weight loss, Hyperhidrosis, Bon...	ORPHA:391
Helix Syndrome	Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Alacrima	OMIM:617671
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95513
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Diarrhea, Asthma, At...	ORPHA:2070
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Celiac disease, Antinuclear antibody positivity, Jaundice, Hep...	ORPHA:186
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Respiratory distress, Recurrent respiratory infections, Acute hepati...	ORPHA:537
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Vocal Cord Paralysis And Ptosis	Vocal cord paralysis	OMIM:193240
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Productive cough, Decreased nasal nitric oxide, Bronchiectasi...	OMIM:615434
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Ileus, Weight loss	ORPHA:168811
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova...	ORPHA:2348
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections	OMIM:607624
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Elevated he...	ORPHA:36426
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decrease...	OMIM:601495
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Partial absence of specific antibody response to Haemoph...	OMIM:301082
Bardet-Biedl Syndrome 21	Elevated hepatic transaminase, Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy,...	OMIM:617406
Eales Disease	Anterior uveitis, Constipation, Epistaxis, Iris neovascularization	ORPHA:40923
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Vocal cord paralysis	OMIM:607641
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hypocalciuric Hypercalcemia, Familial, Type I	Parathyroid adenoma, Hyperparathyroidism, Pancreatitis	OMIM:145980
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach	OMIM:114500
Reynolds Syndrome	Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivitis sicca,...	ORPHA:779
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive, Decreased acid cera...	OMIM:228000
Congenital Isolated Acth Deficiency	Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Hepati...	ORPHA:199296
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Charcot-Marie-Tooth Disease, Type 4B2	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:604563
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body...	OMIM:231000
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent...	OMIM:618048
Ceroid Lipofuscinosis, Neuronal, 1	Macular degeneration, Optic atrophy, Retinal degeneration	OMIM:256730
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Myasthenic Syndrome, Congenital, 16	Anti-acetylcholine receptor antibody positivity, Periodic paralysis	OMIM:614198
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas...	OMIM:275000
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration, Dysphagia	OMIM:607736
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re...	ORPHA:93941
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell...	OMIM:618398
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating...	OMIM:601847
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Chei...	OMIM:615468
Scedosporiosis	Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Diabetes mellitus, Bronc...	ORPHA:449280
Linear Iga Dermatosis	Inflammation of the large intestine, Autoimmunity, Epistaxis	ORPHA:46488
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Nephronophthisis 15	Elevated hepatic transaminase, Obesity, Retinal degeneration	OMIM:614845
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Recurrent otitis media, Ciliary...	OMIM:613193
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Frontonasal Dysplasia 2	Conical tooth, Bilateral cryptorchidism, Hypohidrosis, Widely spaced teeth, Broad philtrum, Decre...	OMIM:613451
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis,...	OMIM:620197
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Eczema, Autoimmunity, Recurrent pneumonia, Recurrent infections, Decreased circulating antibody l...	OMIM:617780
Alacrima, Congenital, Autosomal Dominant	Lacrimal gland hypoplasia, Alacrima, Decreased lacrimation	OMIM:103420
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Amoebic Keratitis	Scleritis, Anterior uveitis, Iris atrophy	ORPHA:67043
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im...	OMIM:618063
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hormone stimulati...	ORPHA:1855
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:605588
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann...	ORPHA:206448
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Hepatic stea...	ORPHA:101330
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Pericarditis, Hepatomegaly,...	OMIM:619487
Lichen Planopilaris	Abnormal intestine morphology, Hepatitis	ORPHA:525
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ...	ORPHA:91138
Immunodeficiency 96	Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re...	OMIM:619774
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Rift Valley Fever	Skin rash, Hematemesis, Jaundice, Hepatitis, Uveitis, Melena, Increased circulating IgG level, In...	ORPHA:319251
Intellectual Disability-Alacrima-Achalasia Syndrome	Achalasia, Deep philtrum, Alacrima, Dysphagia	ORPHA:289483
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Peripheral demyelination	ORPHA:99944
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Achalasia, Alacrima	ORPHA:91416
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Peripheral axonal neuropath...	OMIM:205400
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased body weight, Optic atrophy, Bronchiectasis, Delayed puberty	ORPHA:477814
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Intestinal obstruction, Skin rash, Malabsorption, Orchitis, ...	ORPHA:342
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Asthma, Recurrent pneumonia, Recurrent upper respiratory tract infecti...	OMIM:619752
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Intestinal Dysmotility Syndrome	Projectile vomiting, Diarrhea, Weight loss, Decreased intestinal transit time, High palate, Failu...	OMIM:620045
Spastic Ataxia 5, Autosomal Recessive	Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysphagia, Dysdiadochokinesis, Myoclonus, Spastic pa...	OMIM:614487
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Hereditary Neuropathy With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Vocal cord paralysis	ORPHA:640
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Hypohidrosis, Downturned corners of mouth, Short philtrum, Adrenal insuffici...	OMIM:615510
Immunodeficiency 37	Colitis, Infectious encephalitis, Decreased circulating antibody level	OMIM:616098
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,...	ORPHA:98897
Morm Syndrome	Truncal obesity, Micropenis, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607250
Neuropathy, Congenital Hypomyelinating, 2	Decreased motor nerve conduction velocity, Facial diplegia, Decreased number of peripheral myelin...	OMIM:618184
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl...	OMIM:604484
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Chondroectodermal Dysplasia With Night Blindness	Hyperhidrosis, Abnormal dental morphology, Epiphora, Otitis media	ORPHA:319195
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Adrenocorticotropin receptor defect, Adrenal insufficiency,...	OMIM:231550
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit...	ORPHA:163525
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Niemann-Pick Disease, Type A	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B...	OMIM:257200
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Immunodeficiency 77	Chronic pulmonary obstruction, Gastroparesis, Bronchiectasis, Cutaneous abscess	OMIM:619223
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:615376
Epithelial Recurrent Erosion Dystrophy	Epiphora	OMIM:122400
Immunodeficiency 22	Pericarditis, Autoimmunity, Diarrhea, Recurrent upper respiratory tract infections, Protracted di...	OMIM:615758
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-los...	OMIM:175500
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Corneal Dystrophy, Meesmann, 2	Epiphora	OMIM:618767
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pn...	ORPHA:276
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Inflammatory abnormality of the eye, Abnormality of retinal pi...	ORPHA:816
Blepharonasofacial Malformation Syndrome	Lacrimation abnormality, Cryptorchidism, Non-midline cleft lip, Cleft palate, Tooth agenesis, Lon...	ORPHA:1252
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive primary hyperald...	ORPHA:171876
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Vomiting, Hepat...	ORPHA:247585
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, R...	OMIM:243700
Neurotrophic Keratopathy	Anterior uveitis, Diabetes mellitus	ORPHA:137596
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Ataxia	OMIM:614116
Myasthenia, Limb-Girdle, Autoimmune	Thymoma, Hashimoto thyroiditis, Mildly elevated creatine kinase, Systemic lupus erythematosus	OMIM:159400
Rabies	Vocal cord paresis, Cerebral palsy, Diarrhea	ORPHA:770
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis, Spastic tetraparesis, Abnormality of extrapyramidal motor function	ORPHA:79314
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Microcolon, Vomiti...	OMIM:155310
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Recurrent viral infections, ...	ORPHA:35078
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat...	OMIM:614921
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rheumatoid factor posi...	ORPHA:49041
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Parkinsonism, Paralysis	OMIM:105500
Renpenning Syndrome	Diabetes mellitus, Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular...	ORPHA:3242
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre...	OMIM:616037
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Autoimmunity, Paraproteinemia, Recurrent infections, C3...	ORPHA:329918
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Asthma...	ORPHA:449400
Ciliary Dyskinesia, Primary, 37	Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea	OMIM:617577
Common Variable Immunodeficiency	Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Recurrent bronchitis, ...	ORPHA:1572
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Failure to thrive, High palate, Pancreatitis	OMIM:236200
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Lacrimation abnormality, Malabsorption, Abnormality of the dentition, ...	ORPHA:2315
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Sunct Syndrome	Episodic hyperhidrosis, Hyperhidrosis, Increased tear production, Vomiting, Nausea, Epiphora	ORPHA:57145
Behçet Disease	Myositis, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar optic neuritis, Keratoco...	ORPHA:117
Anaplastic Thyroid Carcinoma	Respiratory distress, Cough, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Weight...	ORPHA:142
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Anal atresia, Hypohidrosis	ORPHA:884
Thymoma	Myositis, Glomerulonephritis, Autoimmunity, Dyspnea, Anti-acetylcholine receptor antibody positiv...	ORPHA:99867
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s...	ORPHA:2357
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Acute Peripheral Arterial Occlusion	Paralysis	ORPHA:90064
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomega...	OMIM:610199
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne...	OMIM:618282
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Lacrimal Duct Defect	Sinusitis, Conjunctivitis, Epiphora	OMIM:149700
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Respiratory insufficiency	ORPHA:157973
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Deeah Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:619004
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice	OMIM:121300
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Posterior Column Ataxia With Retinitis Pigmentosa	Ataxia, Optic atrophy, Achalasia, Decreased sensory nerve conduction velocity, Peripheral demyeli...	OMIM:609033
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Cowden Syndrome 7	Intestinal polyposis, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter	OMIM:616858
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Choroidal neovascularization, Intermediate...	ORPHA:91500
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Glomerulonephritis, Antinuclear antibody positivity, D...	ORPHA:93126
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Leukocoria, Uveitis, Posterior synechiae of the anterior chamber, Persistent pupillary membrane, ...	OMIM:221900
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Ataxia, Involuntary movements, Hypergonadotropic hypogonadism, Decreased number of large peripher...	OMIM:271245
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Ataxia, E...	OMIM:615688
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Episodic hyperhidrosis, Diarrhea, Hypogeusia, Gastroesophageal reflux, Constipation, Vomiting, Al...	OMIM:223900
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Facial palsy, Elevated circulating C-reactive protein concentrati...	ORPHA:297
Classic Progressive Supranuclear Palsy Syndrome	Neuromuscular dysphagia, Decreased lacrimation	ORPHA:240071
Keratosis Pilaris Atrophicans	Epiphora	OMIM:604093
Dacryocystitis-Osteopoikilosis Syndrome	Lacrimation abnormality	ORPHA:1562
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ...	ORPHA:33577
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus...	OMIM:613404
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A...	OMIM:618220
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Splenomegaly, Enterocolitis, Anemia, Reduced natural ...	OMIM:616050
Limbal Stem Cell Deficiency	Keratitis, Lacrimation abnormality, Epiphora	ORPHA:171673
Corneal Dystrophy, Meesmann, 1	Epiphora	OMIM:122100
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin...	OMIM:613489
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomer...	ORPHA:36234
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin-resistant diabetes mellitus, Hyperinsulin...	ORPHA:79086
Immunodeficiency 31C	Recurrent respiratory infections, Villous atrophy, Osteomyelitis, Diabetes mellitus, Eczema, Hepa...	OMIM:614162
Ethylene Glycol Poisoning	Gastritis, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea, Vomiting, N...	ORPHA:31826
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Dystonia, Ataxia, Elevated circulating creatine kinase concentrat...	OMIM:208920
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:99948
Japanese Encephalitis	Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti...	ORPHA:79139
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Impaired T cell funct...	OMIM:613179
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Dysphagia, Weight loss, Pigmentary retinopathy, Aspiration pneumonia, Cough, R...	ORPHA:216866
Incontinentia Pigmenti	Delayed eruption of teeth, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Conical t...	OMIM:308300
Paroxysmal Extreme Pain Disorder	Lacrimation abnormality	OMIM:167400
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormality of thyroid physiology, Autoimmunity, Minimal change glomer...	ORPHA:1830
Acquired Partial Lipodystrophy	Autoimmunity, Lymphocytosis	ORPHA:79087
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Autoimmunity	ORPHA:163703
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Hypokalemic Periodic Paralysis	Paralysis, Adrenocortical adenoma, Respiratory paralysis, Periodic hypokalemic paresis, Mildly el...	ORPHA:681
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly...	ORPHA:98849
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun...	ORPHA:911
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hepatic failure, Biliary cirrhosis, Ch...	OMIM:617394
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Bowel incontinence, Opt...	ORPHA:702
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, S...	OMIM:617591
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Aspiration pneumonia,...	ORPHA:99772
Focal Facial Dermal Dysplasia Type Iii	Downturned corners of mouth, Lacrimation abnormality, Short philtrum, Anal atresia	ORPHA:1807
Eosinophilic Fasciitis	Arthritis, Fasciitis, Weight loss, Myositis	ORPHA:3165
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis	ORPHA:140989
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Conjunctivitis, Alacrima, Dental malocclusion	OMIM:615560
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Skin rash, Abnormal retinal morphology, Abnormality of...	ORPHA:33276
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema	OMIM:180104
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Decreased nerve conduction velocity, Tremor, Vocal cord paralysis, Arthritis, Dysphagia, Mildly e...	ORPHA:397744
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent skin infections, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Nonproductive cough, ...	ORPHA:97287
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Decreased specific antibody response to polysacch...	OMIM:241600
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea	OMIM:202110
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Incontinentia Pigmenti	Delayed eruption of teeth, Skin rash, Abnormal dental enamel morphology, Abnormal dental morpholo...	ORPHA:464
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Dyspareunia, Skin rash, Cheilitis, Hepatitis, Cough, Abnormal v...	ORPHA:1334
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Autoimmunity, Oral ulcer, Synovitis, Arthritis, Anti-dsDNA antibod...	ORPHA:567544
Takayasu Arteritis	Increased inflammatory response, Hyperhidrosis, Weight loss, Arthritis, Gastrointestinal infarcti...	ORPHA:3287
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Weight loss	ORPHA:704
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hepatocellular carcinoma, Gout, Delayed puberty, Int...	OMIM:232200
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Zika Virus Disease	Maculopapular exanthema, Skin rash, Acute demyelinating polyneuropathy, Arthritis, Abnormal optic...	ORPHA:448237
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Turner Syndrome Due To Structural X Chromosome Anomalies	High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal...	ORPHA:99413
Silver-Russell Syndrome	Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec...	ORPHA:813
Mosaic Monosomy X	High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal...	ORPHA:99228
Monosomy X	High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal...	ORPHA:99226
Turner Syndrome	High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal...	ORPHA:881
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Choroidal neovascularization	OMIM:608895
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogona...	ORPHA:572333
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Ataxia, Tremor, Splenomegaly, Diarrhea, Hyp...	ORPHA:99745
Christianson Syndrome	Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Alacrima, Congenital, Autosomal Recessive	Alacrima	OMIM:601549
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Gastroesophageal reflux, Recurrent aspiration pneumonia	OMIM:619971
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Vomiting, Protein-losing enteropathy, Cough, Elevated hep...	OMIM:619991
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Obesity, Gout, Hepatic steat...	ORPHA:412
Stuve-Wiedemann Syndrome 1	Pursed lips, Carious teeth, Hyperhidrosis, Thin vermilion border, Smooth tongue, Dysphagia, Decre...	OMIM:601559
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse goiter, Activat...	ORPHA:424
Flotch Syndrome	Inflammatory abnormality of the eye, Blepharitis	ORPHA:2045
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ...	OMIM:601455
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Lung abscess, Liver abscess, Dyspnea, Gastrointestinal dysmotility, Diarr...	ORPHA:67
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Seckel Syndrome 10	Retinal detachment, Acute pancreatitis, Diabetes mellitus, Elevated circulating aspartate aminotr...	OMIM:617253
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul...	ORPHA:85138
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Dyspnea, Cardiorespiratory arres...	ORPHA:26791
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Bowel incontinence, Babinski s...	ORPHA:171629
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Vomiting, Cough, Chronic diarrhea...	ORPHA:3260
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ...	ORPHA:90340
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:3162
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro...	OMIM:619693
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Abnormal liver ...	ORPHA:90003
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Babinski s...	OMIM:604360
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Increased circulating AC...	ORPHA:43
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Cough, Achalasia, Abnormality of the fem...	ORPHA:1018
Pgm3-Cdg	Rheumatoid factor positive, Recurrent viral infections, Sepsis, Increased circulating IgG level, ...	ORPHA:443811
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Herpes Simplex Virus Stromal Keratitis	Keratitis, Epiphora	ORPHA:137599
Agammaglobulinemia 10, Autosomal Dominant	Recurrent sinusitis, Transient neutropenia, Absent circulating B cells	OMIM:619707
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Cachex...	ORPHA:109
Charcot-Marie-Tooth Disease Type 2B1	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:98856
Immunodeficiency 70	Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce...	OMIM:618969
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia	OMIM:164500
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Adrenal calcifi...	ORPHA:275761
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Proteus Syndrome	Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma	OMIM:176920
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Tachypne...	ORPHA:36238
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhini...	OMIM:244400
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin r...	OMIM:102700
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Malabsorption, ...	ORPHA:379
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Postural tremor, Babinski sign, Vocal cord paralysis, Optic atrophy, Hand tremor, Poor fine motor...	ORPHA:99947
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ...	OMIM:610532
Erythrokeratodermia Variabilis	Diabetes mellitus, Skin rash, Weight loss	ORPHA:317
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Abnormality of ...	ORPHA:228123
Thymic Carcinoma	Neoplasm of the thymus, Dyspnea, Weight loss, Hyperhidrosis, Cough	ORPHA:99868
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Rod-co...	OMIM:615986
Slc35A1-Cdg	Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Retinal arteritis, Panuveitis, Posterior ...	ORPHA:209959
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Elevated circulating creatine ...	ORPHA:101082
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Pericarditis, Maculopapular exanthema, Skin rash, Orch...	ORPHA:99826
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De...	OMIM:270550
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Abnormal lung morphology, Weight loss, P...	ORPHA:767
Essential Thrombocythemia	Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Foodborne Botulism	Cerebral palsy, Paralysis, Diarrhea, Diaphragmatic paralysis, Xerostomia, Constipation, Dysphagia	ORPHA:228371
Familial Cervical Artery Dissection	Diabetes mellitus, Facial palsy, Paralysis	ORPHA:36382
Nipah Virus Disease	Tremor, Infectious encephalitis, Myoclonus	ORPHA:99825
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac...	ORPHA:398124
Trisomy 8P	Cryptorchidism, Malrotation of small bowel, Cleft palate, Thin vermilion border, Constipation, Ap...	ORPHA:264450
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Failure to thrive in infancy, Cachexia	OMIM:616801
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Perioral eczema	ORPHA:79242
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased ...	OMIM:619510
Brachydactylous Dwarfism, Mseleni Type	Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth...	ORPHA:2619
Snakebite Envenomation	Paralysis, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Vomi...	ORPHA:449285
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm...	ORPHA:143
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Neonatal asphyxia, Atelectasis, Wheezing, Pneumothorax, ...	ORPHA:70588
Riddle Syndrome	Pneumonia, Bronchitis, Neonatal asphyxia, Diarrhea, Recurrent pneumonia, Abnormal pulmonary inter...	ORPHA:420741
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat...	ORPHA:90060
Familial Gestational Hyperthyroidism	Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor...	ORPHA:99819
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Gastroesophageal reflux, Retinal degenera...	OMIM:249270
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis, Peritonitis, B...	ORPHA:90038
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism	OMIM:607080
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade...	ORPHA:97289
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripheral...	OMIM:218000
Hypobetalipoproteinemia, Familial, 1	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615558
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Familial Dysautonomia	Abnormal peritoneum morphology, Hypohidrosis, Hyperhidrosis, Gastroesophageal reflux, Alacrima	ORPHA:1764
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Narrow palate, Respiratory insufficiency, Respiratory failure, Gastroesophageal reflux,...	OMIM:618186
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hallermann-Streiff Syndrome	Natal tooth, Abnormality of the dentition, Cryptorchidism, High, narrow palate, Supernumerary too...	ORPHA:2108
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Hemochromatosis, Type 2A	Splenomegaly, Hepatomegaly, Cirrhosis, Arthritis	OMIM:602390
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ...	ORPHA:400
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Optic atrophy, Skin rash, Cachexia	ORPHA:220295
Abetalipoproteinemia	Fat malabsorption, Retinopathy, Retinal degeneration	OMIM:200100
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysis, Tremor, Thyrotoxicos...	ORPHA:79102
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Uveitis, Cleft palate, Taurodontia, Hig...	OMIM:164200
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Enthesitis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Enthesitis, Arthritis, Sacroiliac arthriti...	ORPHA:85438
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t...	ORPHA:96179
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Allodynia, Peripheral demyelination	ORPHA:221091
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Diabetes insipidus, Weight loss	ORPHA:30925
Mucopolysaccharidosis Type 7	Splenomegaly, Ascites, Hepatitis	ORPHA:584
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tachypnea, Chorioretinal atrophy,...	ORPHA:415
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Complement Component 4A Deficiency	Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Cockayne Syndrome A	Anhidrosis, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Splen...	OMIM:216400
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Hypoalbuminemia, Vomiting, Constrictive pericarditis, Intestinal lymphedema,...	ORPHA:90363
Mucolipidosis Iv	Optic atrophy, Achlorhydria, Retinal degeneration	OMIM:252650
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hyperhidrosis, Gastroesophageal reflux, High palate, Open mouth, Alacrima	OMIM:614653
Good Syndrome	Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Diabetes mellitus, Cough,...	ORPHA:169105
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Herpes simplex encephalitis	OMIM:617900
Primary Ciliary Dyskinesia	Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d...	ORPHA:244
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we...	ORPHA:2590
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hyperthyroidism, Goiter	OMIM:188580
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Infection-Related Hemolytic Uremic Syndrome	Diabetes mellitus, Pneumonia, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secret...	ORPHA:544482
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Primary hyperparathyroidism, Peptic ulcer	OMIM:600740
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Decreased distal sensory nerve action ...	ORPHA:466768
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Dental crowding, Cryptorchidism, Chronic diarrhea, Chronic constipation, High palat...	OMIM:619005
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Diarrhea, Jaundice, Hepatitis, Uveit...	ORPHA:509
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Villous atrophy, Elevated al...	ORPHA:398063
Serrated Polyposis Syndrome	Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis...	ORPHA:157798
Pheochromocytoma/Paraganglioma Syndrome 2	Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ...	OMIM:601650
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c...	OMIM:619705
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Poliomyelitis	Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Paralytic ileus, Hyperkinetic m...	ORPHA:2912
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:615490
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis, Abnormality of the tonsils	ORPHA:93476
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Lysinuric Protein Intolerance	Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Intraalveolar phospholipid accumulation, Respirator...	OMIM:222700
Cockayne Syndrome	Anhidrosis, Hepatomegaly, Abnormal dental morphology, Delayed eruption of primary teeth, Carious ...	ORPHA:191
Rheumatoid Arthritis	Anti-citrullinated protein antibody positivity, Rheumatoid factor positive, Rheumatoid arthritis,...	OMIM:180300
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Paroxysmal Hemicrania	Rhinitis, Epiphora	ORPHA:157835
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Diarrhea, Tachypnea, Jaun...	ORPHA:20
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes mellitus	ORPHA:1133
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Esophagitis, Achalasia, Hepatic steatosis, Alacrima	OMIM:615356
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Hyp...	ORPHA:228119
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomegaly, Micronodular cirrhosis, Mi...	ORPHA:404454
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, High, narrow palate...	OMIM:209900
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly...	OMIM:170100
Infantile Krabbe Disease	Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Optic atro...	ORPHA:206436
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp...	OMIM:614868
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Dysmenorrhe...	ORPHA:280365
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Multiple Sulfatase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, CNS demyelination, Spasticity, Peripheral demyelination	OMIM:272200
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Chronic ...	ORPHA:169154
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Cirrhosis, Familial	Fulminant hepatitis, Jaundice, Esophageal varix, Micronodular cirrhosis, Biliary cirrhosis, Cirrh...	OMIM:215600
Ceroid Lipofuscinosis, Neuronal, 10	Retinal atrophy, Apnea, Respiratory insufficiency, Respiratory failure, Rod-cone dystrophy	OMIM:610127
American Trypanosomiasis	Hepatomegaly, Skin rash, Aganglionic megacolon, Myocarditis, Diarrhea, Autoimmune antibody positi...	ORPHA:3386
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis, Cough	OMIM:619468
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Onion bulb formation, Elevated circulating creatine kinase concentration	OMIM:614455
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Autoimmunity, Abnormal pulmonary interst...	ORPHA:732
Hypogonadism-Cataract Syndrome	Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti...	OMIM:240950
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Orofaciodigital Syndrome Viii	High palate, Recurrent aspiration pneumonia, Cleft palate	OMIM:300484
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Diabetes mellitus, Acne, Increased circulating cortisol level, Primary hyper...	OMIM:615830
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Recurrent pneumonia	OMIM:615637
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Hypospadias, Optic atrophy, Bronchiectasis, Respiratory insuffi...	OMIM:618253
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Tremor, Episodic hyperhidrosis, Cranial nerve compression, Vocal ...	ORPHA:94080
Melas	Hypoparathyroidism, Diabetes mellitus, Intestinal pseudo-obstruction, Hypogonadotropic hypogonadi...	ORPHA:550
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Weight loss, Arthritis, Inflammation of ...	ORPHA:324964
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus	ORPHA:90036
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro...	ORPHA:91139
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Low choleste...	OMIM:257220
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss	ORPHA:86884
Dermatitis Herpetiformis	Microcytic anemia, Autoimmunity, Eczema, Malabsorption	ORPHA:1656
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus...	OMIM:618213
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Hypospadias, Cachexia, Cryptorchidism, Failure t...	ORPHA:217346
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c...	ORPHA:913
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Acute Disseminated Encephalomyelitis	Viral hepatitis, Respiratory failure requiring assisted ventilation, Anti-myelin oligodendrocyte ...	ORPHA:83597
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac...	OMIM:270200
Glutaric Acidemia I	Hepatomegaly, Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Sym...	OMIM:231670
Cockayne Syndrome B	Anhidrosis, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Cryptorchidism, Splen...	OMIM:133540
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign, Vomiting, Oculomot...	OMIM:608703
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Obesity, Hypog...	OMIM:615994
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Combined Immunodeficiency Due To Crac Channel Dysfunction	Anhidrosis, Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Chronic otitis media	ORPHA:169090
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure...	ORPHA:95455
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea...	OMIM:617718
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Glomerulonephritis, Decreased res...	ORPHA:470
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure, Retinal dege...	OMIM:615630
Ceroid Lipofuscinosis, Neuronal, 5	Retinal degeneration	OMIM:256731
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:256550
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma...	OMIM:256850
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Failure to thrive	OMIM:619046
Attrv30M Amyloidosis	Vitreous floaters, Diarrhea, Weight loss, Impotence, Constipation	ORPHA:85447
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction, Skin rash, Recurren...	ORPHA:183
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Celiac disease, Gastrointestinal dysmotili...	ORPHA:293987
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Skin rash, Ataxia, Reduced natural killer cell activity, Increased circulating ferr...	OMIM:603553
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Pseudohypoaldosteronism	OMIM:145260
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul...	ORPHA:786
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cheilit...	ORPHA:2273
Roifman Syndrome	Thin upper lip vermilion, Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Recurrent pneumoni...	ORPHA:353298
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Atopic dermatitis, Rhinitis, B lymphocytopenia, Otitis media, Decreased proportion of ...	ORPHA:70593
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Acquired Ichthyosis	Recurrent skin infections, Autoimmunity	ORPHA:454
Roifman Syndrome	Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent...	OMIM:616651
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob...	ORPHA:1333
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm...	ORPHA:99880
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ...	ORPHA:71493
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Cholelithiasis, Splenomegaly, Chronic diarrhea, Macroglossia, Elevated circulating ...	OMIM:618268
Toxin-Mediated Infectious Botulism	Cerebral palsy, Paralysis, Diaphragmatic paralysis, Constipation, Dysphagia	ORPHA:230800
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Autoimmunity, Small for ...	ORPHA:69665
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Apnea, Retinal degeneration	OMIM:616896
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Ataxia, Delayed peripheral myelination, Puberty and gonadal disorders, Fas...	ORPHA:464282
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Autoimmune h...	ORPHA:647
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacolon, Aplasia...	ORPHA:3440
Leprosy	Epistaxis, Abnormality of the spleen, Uveitis, Hypohidrosis, Abnormality of the liver, Abnormalit...	ORPHA:548
Inhalational Botulism	Diarrhea, Constipation, Xerostomia, Paralysis	ORPHA:254504
Cysticercosis	Iridocyclitis, Infectious encephalitis, Chorioretinitis, Increased circulating antibody level	ORPHA:1560
Branchiootorenal Syndrome 1	Lacrimation abnormality, Intestinal malrotation, Cleft palate, Euthyroid goiter, Gustatory lacrim...	OMIM:113650
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Diarrhea, Abnormal lun...	ORPHA:54251
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaun...	ORPHA:90790
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom...	OMIM:605373
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Cachexia, Obesity, Hyperhidrosis, Hypogonadism, High palate, Decreased testi...	ORPHA:85293
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Waardenburg Syndrome Type 1	Tented upper lip vermilion, Aganglionic megacolon, Lacrimation abnormality, Cleft upper lip, Clef...	ORPHA:894
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:607831
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Abnormal salivary gland morpholo...	ORPHA:2298
Stickler Syndrome	Recurrent respiratory infections, Slender build, Cachexia, Osteoarthritis, Uveitis, Cleft palate,...	ORPHA:828
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis...	ORPHA:95430
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Constipation, Cachexia	ORPHA:371364
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Failure to thrive in infancy, Pust...	OMIM:612852
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation	OMIM:615284
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Inflammation of the large ...	OMIM:301000
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Free Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Ascites, Failure to thrive in infancy	ORPHA:834
Wilson Disease	Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf...	OMIM:277900
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Abnormal circulating enzym...	ORPHA:565612
Fatal Familial Insomnia	Apnea, Hyperhidrosis, Weight loss, Constipation, Dysphagia	OMIM:600072
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis...	ORPHA:2331
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum testosterone concentration, Streak ovary, Abnormal peripheral myelination, Increa...	ORPHA:168563
Maternal Uniparental Disomy Of Chromosome 6	Eczema, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Thr...	ORPHA:96181
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Dystonia, Facial-lingual fa...	ORPHA:276244
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Premature ovarian insufficiency, Cachexia, Optic atrophy, Failure ...	OMIM:610965
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Rett Syndrome	Apnea, Intermittent hyperventilation, Cachexia, Constipation, Gastroesophageal reflux	OMIM:312750
Drug-Induced Lupus Erythematosus	Pericarditis, Antinuclear antibody positivity, Autoimmune antibody positivity, Anemia, Lupus anti...	ORPHA:231111
Eec Syndrome	Lacrimation abnormality, Decreased response to growth hormone stimulation test, Abnormal dental e...	ORPHA:1896
Grfoma	Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ...	ORPHA:97261
Amyotrophic Lateral Sclerosis	Spasticity, Xerostomia, Paralysis	ORPHA:803
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo...	ORPHA:662
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Hamartom...	ORPHA:251992
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, Retinal degeneration, A...	OMIM:619260
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity	ORPHA:363558
Congenital Disorder Of Deglycosylation 1	Anhidrosis, Hepatomegaly, Oral-pharyngeal dysphagia, Hyperhidrosis, Hepatic fibrosis, Impaired or...	OMIM:615273
Familial Hypocalciuric Hypercalcemia	Pancreatitis, Autoimmunity, Peptic ulcer	ORPHA:405
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail...	OMIM:267700
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers...	ORPHA:90103
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Malabsorption, Hypersp...	ORPHA:98850
East Syndrome	Peripheral axonal neuropathy, Ataxia, Hyperaldosteronism, Peripheral hypomyelination, Increased c...	ORPHA:199343
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Splenomegaly, Autoimmunity, Keratitis, Tremor, Thyrotoxicosis with di...	ORPHA:525731
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus, Constipation, Cachexia	ORPHA:52503
Preeclampsia	Helicobacter pylori infection, Autoimmunity, Thrombocytopenia, Polycystic ovaries	ORPHA:275555
Acrodermatitis Enteropathica	Glossitis, Malabsorption, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, Weight loss, Con...	ORPHA:37
Epithelial Recurrent Erosion Dystrophy	Keratoconjunctivitis sicca, Epiphora	ORPHA:293381
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, C...	OMIM:615895
Uveal Melanoma	Ciliary body melanoma, Inflammatory abnormality of the eye, Iris melanoma, Mydriasis	ORPHA:39044
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Diarrhea, Respiratory insuffici...	ORPHA:29207
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Retinal cotton wool spot, Skin rash, Pneumonia, Nodular regenerative...	ORPHA:247691
Nephroblastoma	Neoplasm of the lung, Neoplasm of the liver, Aniridia, Weight loss	ORPHA:654
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Type I diabetes mellitus, Cachexia, Weight loss	ORPHA:1979
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Anhidrosis, Decreased nerve conduction ve...	OMIM:201300
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development	Hiatus hernia	OMIM:272000
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia	OMIM:230800
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Chronic diarrhea, Function...	ORPHA:90362
Viss Syndrome	Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph...	OMIM:619472
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser...	OMIM:608594
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu...	ORPHA:79332
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Diabetes insipidus, Weight loss	ORPHA:178029
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod...	ORPHA:79126
Hereditary Bullous Dystrophy, Macular Type	Decreased testicular size, Cryptorchidism, Pneumonia, External genital hypoplasia	ORPHA:1867
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Papilledema, Cachexia, Abnormality of the spleen, Splenomegaly,...	ORPHA:2072
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Atelectasis, Dyspnea, Chronic diarrhea, Asthma, Bronchiectasis, Wheezing,...	OMIM:620233
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Antiphospholipid antibody posit...	ORPHA:93552
Timothy Syndrome	Pulmonary arterial hypertension, Hypothyroidism, Pneumonia, Bronchitis	OMIM:601005
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Gastrointestinal dysmotility, Optic atroph...	ORPHA:391428
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration	OMIM:616211
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Recurrent otitis media, Lymphopenia	OMIM:605309
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Downturned corners of mouth, Alacrima, Long philtrum, Smooth philtrum	OMIM:618548
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Decrease...	OMIM:269700
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Hypertonia, Vomiting, Leukodystrophy, Otitis media, Hepatic steatosis, Intention tremor, ...	OMIM:619475
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thri...	OMIM:300972
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Failure to thrive in inf...	OMIM:610377
Retinoblastoma	Cleft palate, Heterochromia iridis, Leukocoria, Uveitis	ORPHA:790
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Hypohidrosis, Paralysis	OMIM:242100
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa...	ORPHA:26793
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Severe demyelination of the white matter, Jaundice, Optic atrophy, Poor fine motor coordi...	ORPHA:79282
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Vaginal neoplasm, Weight loss, Neoplasm of the lung, Neoplasm of ...	ORPHA:2126
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Porphyria, Acute Intermittent	Paralysis, Diarrhea, Paralytic ileus, Respiratory paralysis, Vomiting, Constipation, Hepatocellul...	OMIM:176000
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Dystonia, Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic a...	ORPHA:255210
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Constipation, Adrenoco...	ORPHA:97283
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Autoimmunity, Pituitary adenoma, Adrenocor...	ORPHA:91354
Carcinoid Syndrome	Hepatic necrosis, Protracted diarrhea, Small intestine carcinoid, Intestinal carcinoid, Epiphora	ORPHA:100093
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Ppoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Constipation, Adrenoco...	ORPHA:97278
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Streak ovary, Aganglionic megacolon, Abnormality of the gingiva, Recur...	ORPHA:798
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, ...	OMIM:151660
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph...	OMIM:259700
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Roifman-Chitayat Syndrome	Arthritis, Optic atrophy, Pneumonia	OMIM:613328
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Lacrimation abnormality, Abnormal dental enamel morphology, Macrodontia, Cleft palate, Hypodontia	ORPHA:2916
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatospleno...	OMIM:260920
Molybdenum Cofactor Deficiency, Complementation Group B	Spastic tetraplegia, Opisthotonus, Axonal loss, Hypertonia, Myoclonic spasms, Peripheral demyelin...	OMIM:252160
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn...	OMIM:214500
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Farber Disease	Respiratory distress, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or...	ORPHA:333
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss...	ORPHA:679
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Bowel incontinence, Retinal degeneration	OMIM:270700
Anti-Glomerular Basement Membrane Disease	Arthritis, Autoimmunity, Anemia	ORPHA:375
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Congenital Disorder Of Glycosylation, Type Iil	Impaired T cell function, Elevated circulating creatine kinase concentration, Chronic diarrhea, D...	OMIM:614576
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Hepatomegaly, Diarrhea, Respiratory insufficiency, Weight loss,...	ORPHA:1842
Alveolar Echinococcosis	Pulmonary cyst, Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Dyspnea, Abnor...	ORPHA:284
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia	OMIM:253700
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Absent vas deferens, ...	ORPHA:586
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:611881
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Failure to thrive, Gastroesophageal reflux, Retinal degeneration	ORPHA:442835
Glucagonoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Constipation, Adrenoco...	ORPHA:97280
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Vipoma	Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcin...	ORPHA:97282
Acute Myelomonocytic Leukemia	Dyspnea, Weight loss	ORPHA:517
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Increased c...	ORPHA:447788
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
Chronic Hiccup	Weight loss	ORPHA:396
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Erythematous oral mucosa, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous...	OMIM:158310
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Axonal loss, Myoclonic spasms, Periphera...	OMIM:252150
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Lacrimation abnormality, Short philtrum, Cleft palate	ORPHA:949
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pneumonia, Hepatosplenomegaly, Macroglossia, Recurrent gastroenteritis	ORPHA:309288
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom...	OMIM:607625
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating...	ORPHA:64
Adiposis Dolorosa	Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Arthritis, Constipation, Hypothyro...	ORPHA:36397
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle...	OMIM:607944
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy...	ORPHA:88
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia, Epiphora	OMIM:616353
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ...	ORPHA:79076
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Fa...	OMIM:251290
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Encephalitis Lethargica	Increased circulating antibody level, Autoimmunity, Bowel incontinence, Recurrent viral infections	ORPHA:83600
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Wild Type Attr Amyloidosis	Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Abnormal pulmon...	ORPHA:330001
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Machado-Joseph Disease Type 1	Dystonia, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal ...	ORPHA:276238
Machado-Joseph Disease Type 2	Dystonia, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal ...	ORPHA:276241
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, P...	ORPHA:60025
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Esophageal stric...	OMIM:617053
Glossopharyngeal Neuralgia	Autoimmunity, Oral-pharyngeal dysphagia, Cranial nerve compression, Schwannoma, Vocal cord paraly...	ORPHA:221098
Stiff-Person Syndrome	Exaggerated startle response, Diabetes mellitus, Autoimmunity, Rigidity, Opisthotonus, Hyperhidro...	OMIM:184850
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Leukop...	ORPHA:77259
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Dys...	ORPHA:100085
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Autoimmunity, Dysphagia	ORPHA:220402
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Decreased circulating parathyroid hormone level, Weight loss	OMIM:143880
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, H...	ORPHA:85450
Sympathetic Ophthalmia	Posterior synechiae of the anterior chamber, Posterior uveitis	ORPHA:79098
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Incr...	OMIM:210250
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec...	OMIM:615816
Alexander Disease	Diabetes mellitus, Ataxia, Facial palsy, Clonus, Bowel incontinence, Tremor, Hypothyroidism, Chor...	ORPHA:58
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora...	ORPHA:254930
Meningococcal Meningitis	Papilledema, Projectile vomiting, Skin rash, Elevated circulating C-reactive protein concentratio...	ORPHA:33475
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Recurrent respiratory infections, Bilateral cryptorchidism, Recurrent pneumoni...	OMIM:150230
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Joubert Syndrome 6	Breathing dysregulation, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma, Retin...	OMIM:610688
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Hypohidrosis...	OMIM:301220
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue histiocytosis, Failur...	OMIM:230600
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Gastropares...	ORPHA:85443
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ...	ORPHA:98905
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Inflammatory abnormality of the eye, Respiratory insufficiency	ORPHA:93262
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Type 1 Diabetes Mellitus	Autoimmunity	OMIM:222100
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Episodic hyperhidrosis, Cr...	ORPHA:276621
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastroin...	ORPHA:44890
Retinal Cone Dystrophy 3B	Cone/cone-rod dystrophy, Macular atrophy	OMIM:610356
Scheie Syndrome	Retinal degeneration	OMIM:607016
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Diarrhea, Protein-losing enteropathy, Weight loss	ORPHA:103910
Peho Syndrome	Optic atrophy, Myoclonus, Peripheral dysmyelination	OMIM:260565
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Gastroesophageal ...	ORPHA:534
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Protracted diarrhea, Melena, Bloody diarrhea, Weight loss, Bronchospasm, Atypical p...	ORPHA:100080
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Macular degeneration, Choroidal neovascularization	ORPHA:404451
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Cough, Failure to thrive...	ORPHA:238468
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Esophageal stricture, Hepatic fibrosis, Microdontia, Oral leukoplakia, Epiphora	OMIM:224230
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Abnormal pattern of respir...	ORPHA:90062
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Abnormality of retinal pigmentation, Diabe...	ORPHA:48818
Loeffler Endocarditis	Dyspnea, Pericarditis, Weight loss, Cough	ORPHA:75566
Gm1 Gangliosidosis	Recurrent respiratory infections, Abnormal retinal vascular morphology, Splenomegaly, Optic atrop...	ORPHA:354
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De...	ORPHA:101085
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Bronchospasm, Constipat...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Protracted diarrhea, Hematochezia, Melena, Bloody diarrhea, Bronchospasm, Constipat...	ORPHA:100082
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w...	ORPHA:2905
Overlap Myositis	Autoimmunity, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Leukopeni...	ORPHA:206572
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Splenomegaly, Leukocytosis, Jaundice, Enterocolitis, Ane...	ORPHA:90051
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine pancreatic insu...	ORPHA:309031
Gitelman Syndrome	Neoplasm of the pancreas, Maternal diabetes, Paralysis, Diarrhea, Gout, Hyperhidrosis, Tubulointe...	ORPHA:358
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Weight loss	ORPHA:764
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Autoimmune antibody positivity, Intraalveolar phospholip...	ORPHA:747
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Autoimmunity, Malabsorption, Carious teeth, Xerostomia, Arthritis, Gastroesophageal ...	ORPHA:220393
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati...	ORPHA:320375
Gaucher Disease	Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Cherry red spot of the macula, Hepatit...	ORPHA:355
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:252920
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia	ORPHA:300605
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia	ORPHA:204
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Conical in...	OMIM:149730
Trisomy 18	Abnormality of retinal pigmentation, Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate,...	ORPHA:3380
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kinase concentrati...	ORPHA:682
Refsum Disease, Classic	Decreased phytanoyl-CoA hydroxylase activity, Rod-cone dystrophy, Retinal degeneration	OMIM:266500
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Rhabdoid Tumor	Neoplasm of the liver, Respiratory insufficiency, Weight loss	ORPHA:69077
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Dystonia, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Gastroesop...	ORPHA:500144
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Peripheral hypomyelination, Increased circulating...	OMIM:612780
African Trypanosomiasis	Tremor, Choreoathetosis, Conjunctivitis, Vomiting, Iritis, Nausea, Papilledema, Hepatomegaly, Abn...	ORPHA:3385
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Di...	ORPHA:542323
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
Acute Monoblastic/Monocytic Leukemia	Exertional dyspnea, Weight loss, Central hypothyroidism	ORPHA:514
Hartnup Disease	Skin rash, Infectious encephalitis, Ataxia	ORPHA:2116
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Epiphora	ORPHA:141083
Orofaciodigital Syndrome Ix	Retinal coloboma, High palate, Recurrent aspiration pneumonia, Cleft palate	OMIM:258865
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Malabsorption, Respiratory tract infection, Spl...	ORPHA:581
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Hemifacial spasm, Ataxia, Trem...	ORPHA:466677
Axial Spondylometaphyseal Dysplasia	Neonatal respiratory distress, Retinal dystrophy, Peripheral retinal degeneration, Respiratory tr...	ORPHA:168549
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ...	ORPHA:440437
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype...	OMIM:616028
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration, Intestinal pseudo-obstruction, Dysphagia	OMIM:619780
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Abnormality of retinal pigmentation, Short hard palate, Cachexia	ORPHA:1969
Lipodystrophy, Familial Partial, Type 7	Spontaneous pneumothorax, Small for gestational age, Pulmonary arteriovenous malformation, Diarrh...	OMIM:606721
Listeriosis	Liver abscess, Tremor, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, Nausea, ...	ORPHA:533
Insensitivity To Pain, Congenital, With Anhidrosis	Anhidrosis, Osteomyelitis, Keratitis, Abnormal autonomic nervous system physiology, Decreased num...	OMIM:256800
Dyskeratosis Congenita, Digenic	Abnormality of the dentition, Gastroesophageal reflux, Oral leukoplakia, Dysphagia, Decreased tes...	OMIM:620040
Glioblastoma	Paralysis	ORPHA:360
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia, Dysphagia	ORPHA:52368
Poikiloderma With Neutropenia	Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne...	OMIM:604173
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Thr...	ORPHA:50918
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Ataxia, Hepatocellular carc...	OMIM:256810
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S...	OMIM:619418
Brown-Vialetto-Van Laere Syndrome 1	Ataxia, Facial palsy, Vocal cord paralysis, Dysphagia, Clumsiness, Ankle clonus, Tongue fascicula...	OMIM:211530
Hurler Syndrome	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Macroglossia, R...	OMIM:607014
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Diabetes mellitus, Paradoxical incre...	ORPHA:96253
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p...	OMIM:608233
Marfan Syndrome	Retinal detachment, Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, High, narrow palate...	ORPHA:558
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers, Anhidrosis	ORPHA:64752
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Autoimmunity, Cough, Dyspnea, Wei...	ORPHA:93672
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Giant Cell Arteritis	Pericarditis, Diabetes insipidus, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, O...	ORPHA:397
Combined Oxidative Phosphorylation Deficiency 25	Chronic constipation, Failure to thrive, Reduced circulating growth hormone concentration, Aspira...	OMIM:616430
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Dysphagia, Stridor, Gastroesophageal reflux, Cough, Bronchioli...	OMIM:230900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of...	OMIM:264800
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha...	ORPHA:90291
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ...	OMIM:174900
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Paget Disease Of Bone 5, Juvenile-Onset	Macular scar, Angioid streaks of the fundus, Elevated circulating alkaline phosphatase concentrat...	OMIM:239000
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dystonia, Laryngeal ...	ORPHA:2388
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Episodic vomiting, ...	ORPHA:330021
Huntington Disease-Like 2	Weight loss	OMIM:606438
Mucopolysaccharidosis Type 6	Chronic otitis media, Splenomegaly, Failure to thrive, Sinusitis	ORPHA:583
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Dyspnea, Abnor...	ORPHA:35687
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, High, narrow palate, Recurrent bronchopulmonary infe...	ORPHA:33364
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Gastroesophageal reflux, Retinal degeneration	ORPHA:542306
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis	ORPHA:35858
Werner Syndrome	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:277700
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Neonatal respiratory distress, Gastroesophageal reflux, Recurrent aspi...	ORPHA:79243
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Episodic hyperhidrosis, Cr...	ORPHA:29072
Infantile Neuroaxonal Dystrophy	Optic atrophy, Apneic episodes in infancy, Constipation, Aspiration pneumonia, Increased circulat...	ORPHA:35069
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly	OMIM:252900
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary ci...	OMIM:613471
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp...	ORPHA:91347
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormality of macular pigmentation	ORPHA:1573
Acquired Hypertrichosis Lanuginosa	Macroglossia, Chronic diarrhea, Glossitis, Weight loss	ORPHA:2221
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia	ORPHA:314655
Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis	ORPHA:93474
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Acute Promyelocytic Leukemia	Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Weight loss, Stomatitis, Exertional dys...	ORPHA:520
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Elevated gamma-glutamyltr...	OMIM:608885
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Failure to thrive, Low alkaline phosphatase	OMIM:201100
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hepatomegaly, Failure to thrive, Anemia	OMIM:239200
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Increased circulating ACTH level, Protr...	ORPHA:100075
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Lujo Hemorrhagic Fever	Respiratory distress, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Crackles...	ORPHA:319213
Schwartz-Jampel Syndrome	Apnea, Cachexia, Cleft palate, Respiratory insufficiency, High palate, Testicular torsion, Decrea...	ORPHA:800
Chops Syndrome	Gastroparesis, High, narrow palate, Splenomegaly, Cryptorchidism, Optic atrophy, Obesity, Anomalo...	OMIM:616368
Hyperostosis Cranialis Interna	Epiphora	OMIM:144755
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Hepatomegaly, Hypopituitarism, Sinusitis, Skin rash, P...	ORPHA:811
Nasopalpebral Lipoma-Coloboma Syndrome	Epiphora	OMIM:167730
Progeroid Short Stature With Pigmented Nevi	Diabetes mellitus, Small for gestational age, Allergic rhinitis, Impaired T cell function, Allerg...	OMIM:176690
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Ataxia, Increased hepatocellular lipid droplets, Tremor, Microvesicular hepatic steatos...	OMIM:220111
Chronic Graft Versus Host Disease	Fasciitis, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Bronchiectasis, Abnormal esophagus...	ORPHA:99921
Yellow Fever	Acute pancreatitis, Skin rash, Elevated circulating aspartate aminotransferase concentration, Hem...	ORPHA:99829
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot...	OMIM:616959
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Antisynthetase Syndrome	Myositis, Skin rash, Autoimmunity, Myocarditis, Xerostomia, Keratoconjunctivitis sicca, Dysphagia	ORPHA:81
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, ...	OMIM:276700
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Fa...	OMIM:603467
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Optic atrophy, Hypogonadism, Delayed puberty, Optic nerve c...	ORPHA:1328
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Recurrent bacterial s...	ORPHA:167
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Optic disc pallor, Aspiration pneumonia	OMIM:619167
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Decreased female libido, Autoimmunity, Adrenal hypoplasia, ...	ORPHA:95409
Hennekam-Beemer Syndrome	Pneumonia, Respiratory insufficiency, High palate, Vomiting, Mastocytosis, Failure to thrive	ORPHA:2135
Gaisböck Syndrome	Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Gout, Inc...	ORPHA:90041
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Neurocutaneous Melanocytosis	Hemiparesis, Infectious encephalitis	ORPHA:2481
Autoimmune Hypoparathyroidism	Autoimmunity, Autoimmune hypoparathyroidism, Autoimmune antibody positivity, Chronic mucocutaneou...	ORPHA:36913
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa...	ORPHA:33226
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormality of the endocrine system, Cryptorchidism, Rod-cone dystrophy, Retinal degeneration	ORPHA:166035
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Skin rash, Neoplasm of the skin	ORPHA:53715
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Recurrent pneumonia, Optic disc coloboma, Chronic constipation, High pa...	OMIM:300472
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Ataxia-Telangiectasia	Decreased circulating IgG level, Sinusitis, Diabetes mellitus, Female hypogonadism, Decreased cir...	OMIM:208900
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Gelatinous Drop-Like Corneal Dystrophy	Epiphora	ORPHA:98957
Hermansky-Pudlak Syndrome 10	Splenomegaly, Hepatomegaly, Neutropenia	OMIM:617050
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Abnormal oral mucosa morphology, Pustule, Crusting erythem...	ORPHA:79481
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Autoimmunity, Hiatus hernia, Intestinal perforation, Periodontit...	OMIM:130080
Pancreatoblastoma	Diarrhea, Jaundice, Weight loss, Vomiting, Pancreatic calcification	ORPHA:677
Andersen-Tawil Syndrome	Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Hyperaldosteronism, Periodic paral...	ORPHA:37553
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira...	ORPHA:70
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Perianal abscess, Respi...	ORPHA:2968
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology	ORPHA:281090
Gitelman Syndrome	Ataxia, Paralysis, Vomiting, Increased circulating renin level, Constipation, Delayed puberty	OMIM:263800
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Respiratory insufficiency due to muscle weakness, Retinal degeneration	OMIM:615249
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Occipital Horn Syndrome	Gastroparesis, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Gastroesopha...	ORPHA:198
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa...	OMIM:608013
Alport Syndrome	Clitoral hypertrophy, Dyspnea, Dysphagia, Stridor, Macular degeneration, Retinal flecks, Vomiting...	ORPHA:63
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Abnormal circulating enzyme concentration or activity, Macular degeneration	ORPHA:284289
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Infectious encephalitis	ORPHA:1194
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Decreased lymphocyte proliferation in res...	ORPHA:221139
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunct...	OMIM:253260
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Small intestinal dysmotility, Apnea, Hypopnea, Chronic constipation, Restrictive...	OMIM:619482
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Vocal cord paresis, ...	OMIM:601152
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Tremor, Optic atrophy, Vocal cord paralysis, Poo...	ORPHA:99956
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Skin rash, Pustule, Orchitis, Hemiplegia/hemiparesis, ...	ORPHA:761
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Neoplasm of the lung, Art...	ORPHA:2796
Mucolipidosis Iii Alpha/Beta	Retinopathy, Increased iduronate sulfatase level, Retinal degeneration	OMIM:252600
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Autoimmunity	ORPHA:293964
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis, Dysphagia	ORPHA:684
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Retinal degeneration	ORPHA:168491
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Andersen Cardiodysrhythmic Periodic Paralysis	Hyperthyroidism, Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Stüve-Wiedemann Syndrome	Lacrimation abnormality, Abnormality of the dentition, Hyperhidrosis, Hypohidrosis, Smooth tongue...	ORPHA:3206
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Mucopolysaccharidosis Type 2	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Splen...	ORPHA:580
Laryngeal Abductor Paralysis	Vocal cord paralysis, Dysphagia	OMIM:150260
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Polyminimyoclonus, Fasciculations, Dysphagia, Vocal cord paresis	OMIM:619574
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Vomiting, Diarrhea	ORPHA:454831
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism,...	ORPHA:744
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ...	OMIM:242840
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Elevated hepatic transaminase, Pneumonia, Glomerulonephritis, Epistaxis, He...	ORPHA:340
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Ataxia, Paralysis, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundi...	OMIM:203700
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Dyskeratosis Congenita, Autosomal Dominant 3	Cryptorchidism, Oral leukoplakia, Epiphora	OMIM:613990
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastroesophageal reflux, Hepatic hemangioma, Dysphag...	ORPHA:73230
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly	OMIM:617809
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, High, narrow palate, Retinal hemorrhage, Angioid streaks of the fund...	OMIM:177850
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Wolfram Syndrome 2	Gastric ulcer	OMIM:604928
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Anhidrosis, Ataxia, Eczema, Vocal cord paralysis, Chronic constipation, Hy...	OMIM:617799
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Retinal atrophy, Retinal dystroph...	ORPHA:90324
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Glomerulonephritis, Nodular pattern on pul...	OMIM:233450
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib...	ORPHA:731
Arnold-Chiari Malformation Type I	Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the vestibulocochl...	ORPHA:268882
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Oromandibular Dystonia	Respiratory distress, Weight loss, Dysphagia	ORPHA:93958
Atypical Werner Syndrome	Fasting hyperinsulinemia, Abnormality of the pulmonary artery, Hepatic steatosis, Retinal degener...	ORPHA:79474
Congenital Myopathy 15	Vocal cord paralysis	OMIM:620161
Norrie Disease	Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid...	ORPHA:649
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy	ORPHA:436245
Williams Syndrome	Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Microdontia, Hypothyroidism, Lacr...	ORPHA:904
Plague	Glossitis, Chapped lip, Respiratory distress, Hepatomegaly, Skin rash, Erythema nodosum, Lymphade...	ORPHA:707
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Carious teeth, Cryptorchidism, Esophageal stricture, Hyperhidrosis, Ep...	OMIM:305000
Posterior Polymorphous Corneal Dystrophy	Lacrimation abnormality	ORPHA:98973
Arteriosclerosis, Severe Juvenile	Gastric ulcer	OMIM:208060
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Glucose-Galactose Malabsorption	Diarrhea, Failure to thrive, Vomiting, Weight loss	ORPHA:35710
Myasthenia Gravis	Autoimmunity, Dysphagia	OMIM:254200
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Autoimmune antibody positivity, ...	ORPHA:99885
Nijmegen Breakage Syndrome	Anal stenosis, Sinusitis, Autoimmune hemolytic anemia, Recurrent bronchitis, Premature ovarian in...	OMIM:251260
Pyruvate Dehydrogenase E2 Deficiency	Abnormal circulating enzyme concentration or activity, Retinal degeneration	ORPHA:79244
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra...	ORPHA:29073
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Macroglossia, Retinal degeneration, Hepatomegaly	OMIM:248500
Cornelia De Lange Syndrome 1	Hypospadias, Pneumonia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pyloric stenosi...	OMIM:122470
Charge Syndrome	Delayed eruption of teeth, Lacrimation abnormality, Hypogonadotropic hypogonadism, Cleft upper li...	ORPHA:138
Angioedema, Hereditary, 1	Diarrhea, Autoimmunity, Vomiting, Intestinal edema	OMIM:106100
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hy...	OMIM:604292
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Pancreatic cysts, Rod-cone dystrophy, Intrahepatic bile duct ...	OMIM:616307
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma	OMIM:212550
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Abnor...	OMIM:222470
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Hypospadias, Retinal dyst...	ORPHA:397715
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ...	OMIM:129900
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium	ORPHA:1433
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Peripher...	OMIM:618733
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Recurrent respiratory infections, Hepatomegaly, Retinal dystrophy, Cholangitis, Pancreatic cysts,...	OMIM:266920
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes...	ORPHA:100078
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Keratoconjunctivitis sicca, Absent scrotum, Retinal degeneration	OMIM:618479
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive...	ORPHA:2821
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha...	OMIM:602782
Acquired Central Diabetes Insipidus	Diabetes insipidus, Weight loss	ORPHA:95626
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Cryptorchidism, Optic atrophy, Macular degeneration, Panniculitis, Hypo...	ORPHA:3132
Aregenerative Anemia	Abnormality of interleukin secretion, Bone marrow hypocellularity	ORPHA:101096
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Cleft...	OMIM:236670
Nephronophthisis 11	Hepatic fibrosis, Retinal degeneration	OMIM:613550
Beta-Ketothiolase Deficiency	Hepatomegaly, Diarrhea, Tachypnea, Weight loss, Vomiting, Cough	ORPHA:134
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Autoimmunity, Gastrointestinal stroma tumor, Myoc...	ORPHA:221
Bohring-Opitz Syndrome	Recurrent respiratory infections, Retinal atrophy, Apnea, Optic atrophy, Cleft palate, Vomiting, ...	ORPHA:97297
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Cleft palate...	ORPHA:485
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Cholera	Achlorhydria, Diarrhea, Tachypnea, Vomiting, Aspiration pneumonia, Hyperventilation	ORPHA:173
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity, Retinal degeneration, Dysphagia	ORPHA:2822
Encephalocraniocutaneous Lipomatosis	Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity	ORPHA:2396
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Spastic paraplegia, Optic atrophy, Gastroesophageal reflux, Constipation, ...	ORPHA:847
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Isolated Osteopoikilosis	Discoid lupus rash, Autoimmunity, Cleft palate	ORPHA:166119
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the...	ORPHA:722
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hepatomegaly, Recurrent pneumonia, Anemia	OMIM:612301
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Vocal cord paresis, Mildly elevated creatine kinase, Dysphagia	ORPHA:600
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Ataxia, Pneumonia, Facial palsy, Pustule, Hemiparesis, Abnormality of the adrenal glan...	ORPHA:68
Semilobar Holoprosencephaly	Central apnea, Chronic lung disease, Diabetes insipidus, Decreased response to growth hormone sti...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Chronic lung disease, Diabetes insipidus, Decreased response to growth hormone sti...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Chronic lung disease, Diabetes insipidus, Decreased response to growth hormone sti...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Chronic lung disease, Diabetes insipidus, Decreased response to growth hormone sti...	ORPHA:93924
Chikungunya	Maculopapular exanthema, Skin rash, Peripheral nerve compression, Erythema nodosum, Diarrhea, Cru...	ORPHA:324625
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration	OMIM:250410
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Retinal atrophy, Abnormal re...	ORPHA:2785
Dyskeratosis Congenita, Autosomal Dominant 1	Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Pulmonary fibrosis, Cirrhosis, Bone marrow h...	OMIM:127550
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Psoriasiform dermatitis,...	ORPHA:2237
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis, Thrombocy...	OMIM:263700
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ...	ORPHA:699
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Nasopalpebral Lipoma-Coloboma Syndrome	Epiphora	ORPHA:2399
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph...	ORPHA:252164
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Precocious puberty, Optic atrophy, Hepatos...	ORPHA:845
Short Syndrome	Hypoplasia of the iris, Abnormal pupil morphology, Diabetes mellitus, Weight loss	ORPHA:3163
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir...	OMIM:301072
Seckel Syndrome	Cachexia	ORPHA:808
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Macroglossia, Decreased beta-galactosidase activity, Aspiration pneumonia, Ch...	ORPHA:79255
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Chronic constipation, Decreased number of peripheral myelina...	ORPHA:477817
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio...	OMIM:120330
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Failure to thrive	OMIM:612132
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De...	ORPHA:77293
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Splenomegal...	ORPHA:576
X-Linked Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Elevated circulating creatine kinase concentration	ORPHA:98863
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Epistaxis, Malabsorption, Dyspnea, Ocular albinism, Weight loss, Pul...	ORPHA:79430
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
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Esophageal stricture, Pneumo...	ORPHA:79404
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Recurrent uppe...	OMIM:253200
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Dyspnea, Jaundice, Weight loss...	ORPHA:160
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Weight loss	OMIM:256700
Marshall-Smith Syndrome	Apnea, Optic nerve hypoplasia, Bilateral cryptorchidism, Pyloric stenosis, Cryptorchidism, Recurr...	OMIM:602535
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis, Optic nerve compression, Hepatosplenomegaly	OMIM:259730
Liposarcoma	Weight loss	ORPHA:69078
Cystinosis, Nephropathic	Male infertility, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal ...	OMIM:219800
Macrophthalmia, Colobomatous, With Microcornea	Optic disc coloboma, Macular atrophy, Chorioretinal coloboma	OMIM:602499
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Splenomegal...	ORPHA:79277
Degcags Syndrome	Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Hepatomegaly, Hypospadias, Hiatu...	OMIM:619488
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Renal Nutcracker Syndrome	Dyspareunia, Dysmenorrhea, Vulval varicose vein, Varicocele, Weight loss, Infertility, Nausea	ORPHA:71273
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Velopharyngeal insufficiency, Submucous cleft hard ...	OMIM:192430
Wolfram Syndrome	Gastrointestinal hemorrhage, Gastric ulcer, Constipation, Malabsorption	ORPHA:3463
Tropical Endomyocardial Fibrosis	Orthopnea, Hepatomegaly, Cachexia, Dyspnea, Splenomegaly, Autoimmune antibody positivity, Pulmona...	ORPHA:75565
Knobloch Syndrome	Retinal detachment, Pyloric stenosis, Abnormal vitreous humor morphology, Macular degeneration, V...	ORPHA:1571
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Shawl scrotum, Cryptorchidism, Tracheoesophageal fi...	ORPHA:2745
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre...	ORPHA:252183
Alpha-Mannosidosis, Infantile Form	Abnormal circulating enzyme concentration or activity, Optic disc pallor, Pneumonia, Hepatospleno...	ORPHA:309282
Digeorge Syndrome	Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology...	OMIM:188400
Distal Renal Tubular Acidosis	Constipation, Vomiting, Diarrhea, Paralysis	ORPHA:18
22Q11.2 Deletion Syndrome	Impaired T cell function, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal reflux, Hyp...	ORPHA:567
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Pulmonary embolism, Hyperhidrosis, Elevated circulating alkaline p...	ORPHA:94093
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Superficial dermal perivascular inflam...	ORPHA:83617
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Extracranial Carotid Artery Aneurysm	Autoimmunity, Severe infection, Arteritis, Extrapulmonary tuberculosis, Opportunistic infection	ORPHA:494424
Hereditary Motor And Sensory Neuropathy, Type Iic	Vocal cord paresis, Decreased distal sensory nerve action potential	OMIM:606071
Peripartum Cardiomyopathy	Myocarditis, Autoimmunity, Increased circulating interferon-gamma concentration	ORPHA:563
Bohring-Opitz Syndrome	Gastroesophageal reflux, Delayed peripheral myelination, Hyperechogenic pancreas	OMIM:605039
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Hypospadias, Intestinal malrotation, Pneumonia, Cryptorchidism,...	ORPHA:353281
8P23.1 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Obesity, Weight loss, High palate	ORPHA:251071
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Cleft palate, Failure to thrive, Recurrent aspiration pneumonia, Duodenal atresia	OMIM:247200
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Abnormal fundus morphology, Macular degeneration, Dysphagia, Failure to ...	ORPHA:94147
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Impotence, Decreased sweating due to autonomic dysfunction, Constipation, Aspiration ...	ORPHA:99027
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ...	ORPHA:95159
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Pineoblastoma	Papilledema, Paralysis	ORPHA:251909
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Corneal Dystrophy, Posterior Polymorphous, 1	Epiphora	OMIM:122000
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist...	ORPHA:2538
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Asthma, Obesity, Glossoptosis...	ORPHA:444077
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Recurrent otitis media, Gastroesophageal reflux, Autoimmunity	ORPHA:449291
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Inflammation of the large inte...	ORPHA:70591
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Intestinal pseudo-obstruction, Gastroparesis, Respiratory insufficiency, Weight loss, Dysphagia	OMIM:607459
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration, Dysphagia	ORPHA:247234
Fanconi Anemia	Abnormality of the liver, High palate, Abnormality of the uterus, Abnormality of the hypothalamus...	ORPHA:84
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity...	ORPHA:93284
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Hydrolethalus Syndrome 1	Accessory spleen, Adrenal gland dysgenesis	OMIM:236680
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Anal stenosis, Hydrocele testis, High palate, Gastroesophag...	ORPHA:280633
Niemann-Pick Disease Type C	Hepatomegaly, Low cholesterol esterification rate, Splenomegaly, Abnormal lung morphology, Jaundi...	ORPHA:646
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m...	ORPHA:512
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Retinal degeneration	OMIM:253280
Coffin-Siris Syndrome	Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, Papillary thyroid carc...	ORPHA:1465
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Dysphagia	OMIM:234200
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Microcytic anemia	ORPHA:2959
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Dysphagia	ORPHA:411602
Esophageal Atresia	Maternal diabetes, Hypertonia, Vomiting, Gastroesophageal reflux, Esophagitis, Dysphagia, Vocal c...	ORPHA:1199
Doors Syndrome	Thrombocytosis, Adrenal hyperplasia, Aspiration pneumonia, Congenital hypothyroidism	ORPHA:79500
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro...	ORPHA:508533
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Optic disc pallor, Apnea, Breathing dysregulation, Abnormality of the endocrine ...	ORPHA:438213
Kabuki Syndrome 1	Anal stenosis, Intestinal malrotation, Premature thelarche, Malabsorption, Autoimmune thrombocyto...	OMIM:147920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Hypospadias, Intestinal malrotation, Pneumonia, Cryptorchidism,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Hypospadias, Intestinal malrotation, Pneumonia, Cryptorchidism,...	ORPHA:353277
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Intestinal...	OMIM:616268
Persistent Hyperplastic Primary Vitreous	Epiphora	ORPHA:91495
Acute Transverse Myelitis	Invasive parasitic infection, Gastroparesis, Autoimmunity, Severe viral infection, Systemic lupus...	ORPHA:139417
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Small for gestational age, Pneumonia, Hypospadias, Cryptorchidi...	OMIM:264090
Fontaine Progeroid Syndrome	Small scrotum, Small for gestational age, Protruding tongue, High, narrow palate, Cryptorchidism,...	OMIM:612289
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Feingold Syndrome 1	Accessory spleen, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas	OMIM:164280
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Osteoarthritis, Upper airway obstruction, Weight los...	ORPHA:740
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Unilateral vocal cord paralysis, Optic atrophy	ORPHA:324540
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Cleft palate, Gastric ulcer, High palate, Intussusception	OMIM:135900
Aicardi-Goutières Syndrome	Myositis, Chilblains, Autoimmunity, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chr...	ORPHA:51
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia	ORPHA:501
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Williams-Beuren Syndrome	Diabetes mellitus, Incoordination, Portal hypertension, Poor coordination, Vocal cord paralysis, ...	OMIM:194050
Hereditary Sensory And Autonomic Neuropathy Type 4	Anhidrosis, Fasciitis, Osteomyelitis, Hyperhidrosis, Dysphagia, Septic arthritis, Recurrent aspir...	ORPHA:642
Codas Syndrome	Vocal cord paresis, Gastroesophageal reflux	OMIM:600373
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Hypogonadotropic hypogonadism,...	ORPHA:79318
Van Esch-O'Driscoll Syndrome	Spasticity, Unilateral vocal cord paralysis, Hypogonadotropic hypogonadism	OMIM:301030
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Weight loss	ORPHA:3337
Yunis-Varon Syndrome	Small for gestational age, Failure to thrive in infancy, Hypospadias, Pyloric stenosis, Cryptorch...	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
Ovary - MPATH pathological process term developmental dysplasia	Aire^{tm1.1(NCOM)Mfgc}	HOM	Early adult
Salivary gland - MPATH pathological process term inflammation	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^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Aire^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, 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

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

Histopathology

X-ray

Gross Pathology and Tissue Collection

X-ray

Immunophenotyping

X-ray

Immunophenotyping

Eye Morphology

Human diseases caused by Aire mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data