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Gene: Syk MGI:99515

Gene Summary

Name:

spleen tyrosine kinase

Synonyms:

Sykb

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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 exploration in new environment	Syk^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.08×10^-05
increased total body fat amount	Syk^{tm1b(EUCOMM)Hmgu}	HET	Early adult	3.51×10^-06
decreased grip strength	Syk^{tm1b(EUCOMM)Hmgu}	HET	Early adult	7.29×10^-05
decreased lean body mass	Syk^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.31×10^-05
preweaning lethality, complete penetrance	Syk^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.000317

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Electrocardiogram (ECG)

Waveform Image

30 Images

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Human diseases caused by Syk 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 Syk (1 diseases)
Human diseases predicted to be associated with Syk (1200 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 82 With Systemic Inflammation		Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381

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

Disease	Matching phenotypes	Source
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Immunodeficiency, Common Variable, 6	Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro...	OMIM:613496
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:601859
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre...	ORPHA:397596
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesang...	OMIM:617575
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Au...	ORPHA:98813
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial effusion, Fetal p...	OMIM:619462
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ...	OMIM:617241
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Ch...	OMIM:616005
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Insulin resistance, Decreased circulating complement C...	ORPHA:79087
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	OMIM:209950
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio...	OMIM:618459
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Abnormality of the elbow, Splenic ruptu...	ORPHA:98878
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr...	ORPHA:295
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen...	ORPHA:277
Transcobalamin Deficiency	Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti...	ORPHA:859
Nephrosialidosis	Pericardial effusion, Ascites, Bone-marrow foam cells, Death in childhood	OMIM:256150
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Cernunnos-Xlf Deficiency	Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,...	ORPHA:169079
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Increased circulating IgE ...	OMIM:304790
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonary insufficiency, Hydrops fetalis...	OMIM:619433
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Hydrops Fetalis, Nonimmune	Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Neutropenia, Ly...	OMIM:300988
Fetal Gaucher Disease	Decreased fetal movement, Pancytopenia, Fetal akinesia sequence, Splenomegaly, Abnormality of the...	ORPHA:85212
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Boutonneuse Fever	Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopath...	ORPHA:83313
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Abscess, ...	OMIM:615816
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Hydrops fetalis, Limb undergrowth	ORPHA:2204
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Ascites, Chylous	Chylous ascites	OMIM:208300
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem...	OMIM:608709
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul...	OMIM:614470
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p...	OMIM:613779
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane...	OMIM:226990
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife...	ORPHA:99867
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Impaired T cell function, Autoimmunity, Minimal change glomerulonephrit...	ORPHA:1830
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrop...	ORPHA:163596
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin...	ORPHA:37042
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Familial Cervical Artery Dissection	Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral...	ORPHA:36382
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Infantile Sialic Acid Storage Disease	Premature birth, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Hydrops fetalis,...	OMIM:269920
Immunodeficiency 43	Decreased circulating IgG level, Hypoproteinemia, Lung abscess, Decreased specific antibody respo...	OMIM:241600
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Hydrops fe...	ORPHA:846
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, Chylopericardiu...	ORPHA:2414
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce...	OMIM:618935
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Reduced...	OMIM:242860
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi...	OMIM:202400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc...	OMIM:215250
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l...	ORPHA:1041
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer...	OMIM:618394
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Neutropenia,...	OMIM:617303
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Pseudo-Torch Syndrome 3	Premature birth, Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Hypertension, Congenital throm...	OMIM:618886
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Lymphocytic inters...	OMIM:618495
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Igg4-Related Kidney Disease	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Renal intersti...	ORPHA:449395
Congenital Factor Xiii Deficiency	Umbilical cord hematoma, Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extracti...	ORPHA:331
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Telangiectasia, Coarctation of aorta, Thrombo...	ORPHA:101028
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism	OMIM:614514
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Immunodeficiency 19	Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce...	OMIM:615617
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo...	OMIM:619644
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy	OMIM:608540
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating...	OMIM:619510
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi...	ORPHA:3002
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin...	OMIM:620210
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte ...	OMIM:618986
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen...	OMIM:614069
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Necrobiosis Lipoidica	Diabetes mellitus, Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil phy...	ORPHA:542592
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Preeclampsia	Proteinuria, Abnormality of the kidney, Autoimmunity, Chronic kidney disease, Elevated circulatin...	ORPHA:275555
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o...	ORPHA:400
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Increased circulating IgG level, Glucose in...	ORPHA:2298
Sneddon Syndrome	Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia	OMIM:182410
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti...	ORPHA:90060
Nuchal Bleb, Familial	Stillbirth, Fetal cystic hygroma, Hydrops fetalis	OMIM:257350
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p...	ORPHA:209004
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Antineutrophil antibody posi...	OMIM:301078
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa...	OMIM:269840
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac...	ORPHA:79126
Congenital Heart Block	Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges...	ORPHA:60041
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute...	ORPHA:3226
Complement Component 4A Deficiency	Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease...	OMIM:614380
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin resis...	ORPHA:411593
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ...	OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula...	ORPHA:449400
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Focal Segmental Glomerulosclerosis 1	Edema, Hypertension, Pleural effusion, Ascites, Anemia	OMIM:603278
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Asbestos Intoxication	Ground-glass opacification, Right ventricular failure, Atelectasis, Pleural thickening, Mediastin...	ORPHA:2302
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Neuraminidase Deficiency	Bone-marrow foam cells, Facial edema, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Card...	OMIM:256550
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ...	ORPHA:69735
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s...	OMIM:618999
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep...	ORPHA:93552
Chondrodysplasia, Blomstrand Type	Premature birth, Fetal ascites, Polyhydramnios, Micromelia, Flared metaphysis, Hydrops fetalis, A...	OMIM:215045
Glycogen Storage Disease Iv	Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosple...	OMIM:232500
Dengue Fever	Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Bruising susceptibility, ...	ORPHA:99828
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit...	OMIM:616100
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Mi...	ORPHA:90308
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Hydrops fetalis, Upper limb undergrowth, Nonimmune hydrops fetalis, Polyhydramnios	OMIM:613124
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ...	ORPHA:536
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au...	ORPHA:99931
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Periventricular Nodular Heterotopia 1	Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger, Clinodactyly	OMIM:300049
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Lymphatic Malformation 1	Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo...	OMIM:153100
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding	ORPHA:98880
Moderate Hemophilia A	Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Sialidosis Type 2	Splenomegaly, Ascites, Hydrops fetalis, Pedal edema	ORPHA:87876
Meconium Aspiration Syndrome	Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Abnormal heart rate varia...	ORPHA:70588
Brucellosis	Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Zika Virus Disease	Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M...	ORPHA:448237
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level...	OMIM:243700
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe...	OMIM:618261
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo...	OMIM:613845
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Diffuse Neonatal Hemangiomatosis	Premature birth, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thro...	ORPHA:2123
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced...	OMIM:614699
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Ascites	OMIM:301045
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage, Pedal edema	ORPHA:84090
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Secondary Intestinal Lymphangiectasia	Intestinal lymphedema, Edema, Lymphedema, Right ventricular failure, Chylous ascites, Intestinal ...	ORPHA:90363
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Long Qt Syndrome 3	Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy...	OMIM:603830
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy...	ORPHA:70587
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Abnormal immunoglobulin level, Bilateral cryptorc...	OMIM:242900
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Polyhydramnios...	ORPHA:1263
Essential Fructosuria	Abnormal urine carbohydrate level, Hyperglycemia, Abnormal erythrocyte enzyme level	ORPHA:2056
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Indomethacin Embryofetopathy	Cardiomyopathy, Premature birth, Hydrops fetalis, Oligohydramnios	ORPHA:1909
Congenital Enterovirus Infection	Abnormal bleeding, Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Pol...	ORPHA:292
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholester...	OMIM:245900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrops fetalis, Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropen...	OMIM:616738
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In...	OMIM:620010
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema	ORPHA:70589
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Ascites	ORPHA:2198
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,...	OMIM:617744
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus arteriosus, Hepa...	ORPHA:505248
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Recurrent urinary tract infections, Autoimmune hemol...	OMIM:613179
Immunodeficiency 22	Pericarditis, Abscess, Autoimmunity, Anemia, Decreased circulating total IgM, Panniculitis, Decre...	OMIM:615758
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia	ORPHA:375
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Free Sialic Acid Storage Disease	Splenomegaly, Ascites, Abnormality of the upper limb, Hydrops fetalis	ORPHA:834
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas...	OMIM:263400
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Splenomegaly, Ascites, Anemia, Oligohydramnios	ORPHA:1046
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A...	OMIM:617780
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Ovarian Hyperstimulation Syndrome	Ascites	OMIM:608115
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Stroke-like ep...	OMIM:300845
Alpha-Heavy Chain Disease	Splenomegaly, Ascites, Anemia, Hepatomegaly	ORPHA:100025
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Circulating immune complexes, Lymphad...	ORPHA:2035
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ...	OMIM:617021
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Syndactyly, Anemia of inadequate production, Anisocytosis, Spl...	OMIM:224120
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Intracranial...	ORPHA:449285
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positive, Elevated c...	OMIM:615934
Achondrogenesis, Type Ib	Polyhydramnios, Edema, Micromelia, Breech presentation, Hydrops fetalis, Stillbirth	OMIM:600972
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an...	OMIM:616414
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E...	OMIM:614034
Capillary Malformation-Arteriovenous Malformation	Abnormal bleeding, Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, Epistaxis, Lymphe...	ORPHA:137667
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardi...	OMIM:618815
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Cerebellar hemorrhage, Subdura...	ORPHA:97339
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin...	ORPHA:48435
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy, Anemia	ORPHA:1192
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ...	ORPHA:53719
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Pseudo-Torch Syndrome 2	Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Pleural effusion, Ascites,...	OMIM:617397
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Abnormal humerus morphology, Epistaxis, Pericardial effus...	ORPHA:464329
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Aspergillosis	Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Bronchiectasis, Pulmonary in...	ORPHA:1163
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal...	ORPHA:90362
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circu...	OMIM:613011
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth...	ORPHA:77259
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Ascites, Thrombocytopenia	OMIM:619463
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor...	ORPHA:464321
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase...	OMIM:617872
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the skin, Bronchiectasis	OMIM:620321
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane...	OMIM:147060
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Asc...	ORPHA:284227
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ...	OMIM:601495
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension	OMIM:619003
Chylous Ascites	Ascites, Lymphedema	ORPHA:1160
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu...	OMIM:235400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum...	ORPHA:340
Gm1-Gangliosidosis, Type I	Splenomegaly, Congestive heart failure, Vacuolated lymphocytes, Dilated cardiomyopathy, Hydrops f...	OMIM:230500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Pulmonary edema, Cerebral ...	ORPHA:244242
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ...	OMIM:618282
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Splenoportal Vascular Anomalies	Splenomegaly, Ascites	OMIM:271500
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aortic morphology, Anemia	ORPHA:3405
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sud...	OMIM:115197
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growth hor...	ORPHA:293978
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ...	ORPHA:244
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Edema, Anemia, Neonatal death, Ascites, Thrombocytopenia, Oligohy...	OMIM:608104
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr...	OMIM:214500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,...	OMIM:620014
Achondrogenesis Type 1B	Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Short foot, Talipes equi...	ORPHA:93298
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Rift Valley Fever	Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, Increased ci...	ORPHA:319251
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop...	ORPHA:79078
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Familial Atrial Myxoma	Tricuspid regurgitation, Congestive heart failure, Heart murmur, Pedal edema, Ascites	ORPHA:615
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Right bundle branch block, Pulmonary fibrosis	ORPHA:254361
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallb...	ORPHA:171
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ...	ORPHA:2902
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ...	ORPHA:158061
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ...	ORPHA:221139
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Congenital Toxoplasmosis	Thrombocytopenia, Ascites, Anemia, Hepatomegaly	ORPHA:858
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Dehydration, Leukopenia, Bone marrow hypocellularity, Thromb...	OMIM:243500
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hy...	OMIM:619751
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Prolidase Deficiency	Hepatomegaly, Eczema, Hyperimidodipeptiduria, Splenomegaly, Recurrent pneumonia, Crusting erythem...	OMIM:170100
Eosinophilic Gastroenteritis	Eosinophilia, Edema, Leukocytosis, Hematochezia, Ascites, Anemia	ORPHA:2070
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t...	OMIM:307200
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, Ascites, Oligoh...	OMIM:614702
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Yellow Fever	Renal insufficiency, Neutrophilia, Anuria, Increased circulating interleukin 6 concentration, Ele...	ORPHA:99829
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep...	ORPHA:439232
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis	OMIM:619340
Hepatic Veno-Occlusive Disease	Hepatomegaly, Ascites	ORPHA:890
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Farber Disease	CNS foam cells, Abnormality of the hand, Short toe, Abnormality of the elbow, Hydrops fetalis, Ly...	ORPHA:333
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Achondrogenesis Type 1A	Thickened nuchal skin fold, Polyhydramnios, Micromelia, Hydrops fetalis, Short foot, Short palm	ORPHA:93299
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Micropenis, Abnormal natural...	OMIM:615966
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli...	ORPHA:77297
Alg8-Cdg	Brachydactyly, Premature birth, Edema, Hydrops fetalis, Anemia, Talipes equinovarus, Camptodactyl...	ORPHA:79325
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic...	ORPHA:2968
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like...	OMIM:185070
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Mucopolysaccharidosis Type 7	Lymphedema, Metatarsus adductus, Splenomegaly, Hydrops fetalis, Arteriovenous malformation, Ascit...	ORPHA:584
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Fetal akinesia sequence, Adducted thumb, Hydrops fetalis, Femoral bowing, Hypop...	OMIM:617022
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites	OMIM:174050
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy...	OMIM:617591
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm...	ORPHA:494424
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Portal hypertension, Congesti...	ORPHA:367
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left ventricular diastolic...	ORPHA:57777
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis	ORPHA:140989
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Achondrogenesis	Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios, Micromelia	ORPHA:932
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Galactosemia I	Hemolytic anemia, Hepatomegaly, Increased level of galactitol in plasma, Albuminuria, Aminoacidur...	OMIM:230400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,...	OMIM:610978
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Increased circul...	ORPHA:297
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Ground-glass opacification, Atelectasis, Mediastinal lymphadenopathy, Ab...	OMIM:620233
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos...	OMIM:274150
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ...	OMIM:266200
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Left v...	OMIM:618052
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis, ...	OMIM:615122
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomeg...	OMIM:232220
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Circulating immu...	ORPHA:91138
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Polyhydramnios, Decreased fibular diameter, Flared metaphysis, Hyd...	OMIM:616897
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Hemochromatosis, Type 1	Hepatomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia,...	OMIM:235200
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosple...	OMIM:256540
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Autoimmu...	ORPHA:36412
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Hydrops fetalis...	ORPHA:288
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy...	ORPHA:650
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus, Abnormal circulating...	ORPHA:225
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Mulibrey Nanism	Congestive heart failure, Single transverse palmar crease, Ascites, Hydrops fetalis	OMIM:253250
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Greenberg Dysplasia	Polyhydramnios, Micromelia, Hydrops fetalis, Hypoplasia of the calcaneus, Neonatal death, Short p...	OMIM:215140
Mirage Syndrome	Petechiae, Rocker bottom foot, Radial club hand, Patent ductus arteriosus, Anemia, Leukopenia, In...	OMIM:617053
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Abn...	ORPHA:79124
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocyt...	OMIM:226300
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Abnormality of the uppe...	ORPHA:624
Gm1 Gangliosidosis	Premature birth, Camptodactyly of finger, Splenomegaly, Congestive heart failure, Patent ductus a...	ORPHA:354
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Polyhydramnios, Micromelia, Abnormal carpal morphology, Hydrops fetalis...	ORPHA:85166
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Oliguria, Renal ...	ORPHA:97362
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ...	ORPHA:99827
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Lassa Fever	Increased circulating IgM level, Jaundice, Conjunctivitis, Oliguria	ORPHA:99824
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Lymphedema, Pericardial effusion, Splenomegaly, Pulmo...	ORPHA:2136
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Q Fever	Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti...	ORPHA:781
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Gaucher Disease, Perinatal Lethal	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Petechiae, ...	OMIM:608013
Waldenström Macroglobulinemia	Normocytic anemia, Cryoglobulinemia, Renal insufficiency, Hepatomegaly, Abnormality of neutrophil...	ORPHA:33226
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
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
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pedal edema, Leukopenia, Bone marrow hypo...	ORPHA:381
Combined Oxidative Phosphorylation Deficiency 5	Death in infancy, Hypertrophic cardiomyopathy, Ascites, Edema	OMIM:611719
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Abnormal...	ORPHA:540
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Abnormality of the kidney, Increased circulating IgG4 level, C...	ORPHA:449432
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Necrotizing Enterocolitis	Shock, Edema, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Mosaic Trisomy 9	Rocker bottom foot, Polyhydramnios, Micromelia, Asplenia, Elbow dislocation, Camptodactyly of fin...	ORPHA:99776
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Lymphedema, Patent ductus arteriosus, Hydrops fetalis, Vascular...	OMIM:601927
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund...	ORPHA:75565
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia...	ORPHA:186
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Autoimmune thr...	ORPHA:391487
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Hypoglycemia, Decreased response to growth hormone stimulation test, Ant...	OMIM:615577
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Abnorma...	ORPHA:538
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Decreased fetal movement, Ulnar deviation of the hand, Femur fracture, Single transverse palmar c...	OMIM:618291
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Combined Oxidative Phosphorylation Deficiency 42	Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Anemia	OMIM:618839
Alg12-Cdg	Hyponatremia, Hypospadias, Hypocholesterolemia, Partial absence of specific antibody response to ...	ORPHA:79324
Japanese Encephalitis	Hyponatremia, Neutrophilia, Increased circulating IgM level, Increased circulating antibody level...	ORPHA:79139
Combined Oxidative Phosphorylation Deficiency 40	Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardiomyopathy, Anemia	OMIM:618835
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Thyroid lymphangiectasia, Lymphedema, Pe...	OMIM:235510
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia	ORPHA:3348
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati...	OMIM:232240
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Sinusitis, Increased in...	ORPHA:183
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Combined Oxidative Phosphorylation Defect Type 27	Nonimmune hydrops fetalis	ORPHA:477774
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg...	OMIM:618347
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites	OMIM:608776
Bloom Syndrome	Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-positive T ce...	ORPHA:125
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Pericardial effusion, Congestive heart failure, ST se...	OMIM:261740
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Chronic kidney disease, Imbalanced hemoglobin...	ORPHA:330015
Congenital Myopathy 1B, Autosomal Recessive	Decreased fetal movement, Hydrops fetalis, Polyhydramnios	OMIM:255320
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-blue histiocytosis, As...	OMIM:257200
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Anemia, Leukopenia...	ORPHA:64743
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta...	OMIM:175050
Hypophosphatasia, Infantile	Polyhydramnios, Micromelia, Bowing of the legs, Intracranial hemorrhage, Stillbirth, Metaphyseal ...	OMIM:241500
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Netherton Syndrome	Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating IgE level, Hypereosin...	OMIM:256500
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele...	OMIM:610377
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Ataxia-Telangiectasia	Decreased circulating IgG level, Sinusitis, Diabetes mellitus, Elevated circulating alpha-fetopro...	OMIM:208900
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim...	ORPHA:1855
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Hepatomeg...	OMIM:619487
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio...	OMIM:620366
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia,...	OMIM:251260
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hy...	OMIM:212065
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Genera...	ORPHA:64739
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Proteinuria, Abnormality of the kidney, Hypoglycemia, Hyperlipidemia, Portal fibros...	ORPHA:369
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Decreased fetal movement, Cerebral hemorrhage, Breech presentation, Subdural hemorrhage, Chylotho...	OMIM:620278
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Pneumocystosis	Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul...	ORPHA:723
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud p...	ORPHA:3260
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El...	ORPHA:90291
Gm1 Gangliosidosis Type 1	Cherry red spot of the macula, Hydrops fetalis, Hepatosplenomegaly, Flattened femoral head, Cardi...	ORPHA:79255
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Tapered toe, Tapered finger, Long fingers, Dilated cardiomyopathy, Elbow flexion contra...	OMIM:608836
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis	OMIM:615139
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Combined Oxidative Phosphorylation Deficiency 57	Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fetalis, Cardiac arrest, Fetal p...	OMIM:620167
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp...	OMIM:300972
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Iron deficiency anemi...	OMIM:618885
Hemochromatosis, Neonatal	Abnormal bleeding, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:231100
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Polyhydramnios, Preaxial hand polydactyl...	ORPHA:261344
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Polyhydramnios, Bowing of the legs, Micromelia, Abnormal ...	OMIM:200600
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur...	OMIM:255125
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Edema, Autoimmune thrombocytopenia, Abnormal erythrocyte ...	ORPHA:324636
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy...	ORPHA:69076
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H...	OMIM:251900
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Hydrops fetalis, Aplasia of the ulna	OMIM:276822
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Mucopolysaccharidosis, Type Vii	Metatarsus adductus, Splenomegaly, Hydrops fetalis, Genu valgum, Cardiomyopathy, Talipes equinova...	OMIM:253220
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi...	OMIM:137940
Schneckenbecken Dysplasia	Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Advanced ossification of ca...	OMIM:269250
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise, Acute kid...	ORPHA:57
Achondrogenesis, Type Ii	Polyhydramnios, Edema, Short tubular bones of the hand, Hydrops fetalis, Stillbirth	OMIM:200610
Trisomy 13	Patent ductus arteriosus, Postaxial hand polydactyly, Hydrops fetalis, Ectrodactyly, Bilateral si...	ORPHA:3378
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa...	ORPHA:79259
Propionic Acidemia	Pancytopenia, Cerebellar hemorrhage, Dehydration, Anemia, Cardiomyopathy, Neutropenia, Thrombocyt...	OMIM:606054
Kyphoscoliotic Ehlers-Danlos Syndrome	Decreased fetal movement, Arachnodactyly, Abnormality of the hand, Cerebral hemorrhage, Dislocate...	ORPHA:536545
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Pleural effusion, Ascites, Nonimmune hydrops fetalis	OMIM:617049
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Bowing of the long bones, Micromelia, Postaxial polydactyly, Hydrops f...	OMIM:614091
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Atelectasis, Mediastinal lymph...	ORPHA:73263
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Autoimmune t...	ORPHA:227990
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr...	ORPHA:508533
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Increased circulating a...	ORPHA:77261
Arteriovenous Malformations Of The Brain	Cerebral arteriovenous malformation	OMIM:108010
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Dehydration, Leukopenia, Cardiomyopathy, Neutropenia, Thrombocytopenia	OMIM:251000
Osteogenesis Imperfecta, Type Ii	Premature birth, Nonimmune hydrops fetalis, Congestive heart failure, Tibial bowing, Limb undergr...	OMIM:166210
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash...	ORPHA:227982
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosi...	ORPHA:134
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Ascites	ORPHA:131
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma...	ORPHA:508542
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage, Neutropenia, Megaloblastic anemia	ORPHA:79284
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema	ORPHA:168811
Fibrochondrogenesis 1	Rhizomelia, Dumbbell-shaped long bone, Small hand, Hydrops fetalis, Fibular hypoplasia, Short foo...	OMIM:228520
Ovarian Fibroma	Pleural effusion, Ascites	ORPHA:314473
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn...	OMIM:232300
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Iron deficiency anemia, Supraventricular tachycardia, Brain...	ORPHA:97214
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:83617
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h...	ORPHA:79240
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Pseudomyxoma Peritonei	Ascites	ORPHA:26790
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula...	ORPHA:449427
Combined Oxidative Phosphorylation Deficiency 41	Premature birth, Nonimmune hydrops fetalis, Anemia	OMIM:618838
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Campomelia, Cumming Type	Brachydactyly, Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetalis, Clubbing of toe...	ORPHA:1318
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d...	OMIM:616733
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Patent ductus arte...	ORPHA:79329
Classic Galactosemia	Abnormal erythrocyte enzyme level, Hepatomegaly, Ascites	ORPHA:79239
Whim Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenitis, Recurrent upper respiratory t...	ORPHA:51636
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Hydrops fetalis, Single umbilical artery, Clubbing of fingers, Ta...	ORPHA:1865
Type 1 Diabetes Mellitus	Diabetes mellitus, Autoimmunity, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyper...	OMIM:222100
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of the amniotic fl...	OMIM:609015
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Gracile Bone Dysplasia	Asplenia, Death in infancy, Hypoplastic spleen, Ascites	OMIM:602361
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop...	OMIM:300555
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Asplenia, Neonatal death, Nonimmune hydrops fetalis, Patent ductus arteriosus, Pu...	OMIM:265380
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Intrahepatic cholestasis, ...	OMIM:227810
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Renal...	ORPHA:263455
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt...	ORPHA:3243
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage, Talipes equinovarus, Polyhydramnios, Tapered finger	OMIM:613603
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Hypochromic microcytic anemia, Mild proteinuria, H...	OMIM:619147
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc...	OMIM:613404
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Ascites, Anemia	ORPHA:83469
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Abnormal ...	ORPHA:79408
Wolcott-Rallison Syndrome	Hepatomegaly, Dehydration, Iron deficiency anemia, Lymphocytosis, Neutropenia, Ascites	ORPHA:1667
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia,...	OMIM:619525
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br...	OMIM:615067
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Lymphedema, Mitral regurgitation, Neonatal death, Pulmonary arterial h...	OMIM:620244
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E...	OMIM:137920
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Chronic otitis m...	ORPHA:2314
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Generalized lymphadenopathy, Telangiect...	ORPHA:420741
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe...	ORPHA:79282
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of...	ORPHA:79086
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypoglycemia, Hypo...	OMIM:616026
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Smith-Kingsmore Syndrome	Cryptorchidism, Hypoglycemia, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Ascites, Anemia	ORPHA:139411
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Thrombocytopenia, Cerebellar hemorrhage, Dilated cardiomyopathy, Congestive...	ORPHA:99901
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Leukopenia, Pulmonary arterial hypertension, As...	ORPHA:974
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Cholestasis, Progressive Familial Intrahepatic, 3	Splenomegaly, Ascites, Hepatomegaly	OMIM:602347
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod...	ORPHA:634
Congenital Sialidosis Type 2	Hepatomegaly, Abnormal EKG, Edema, Hepatosplenomegaly, Telangiectasia, Ascites	ORPHA:93400
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Bone marr...	OMIM:617341
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Nephrotic range proteinu...	ORPHA:544482
Poems Syndrome	Edema, Pericardial effusion, Pulmonary arterial hypertension, Thrombocytosis, Pleural effusion, A...	ORPHA:2905
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Hepat...	OMIM:613385
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Malar rash, Decreased circulating total ...	OMIM:210900
Lujo Hemorrhagic Fever	Shock, Excessive bleeding after a venipuncture, Atelectasis, Myocarditis, Subconjunctival hemorrh...	ORPHA:319213
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se...	OMIM:612301
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyhydramnios, Pericardial effusion, Hematochezia, Anasarca, Pleural effusion,...	OMIM:618183
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Syndactyly	OMIM:616430
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Anemia	OMIM:301500
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat...	ORPHA:900
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased c...	ORPHA:3132
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Polyhydramnios, Splenomegaly, Postaxial hand polydactyly, Patent ductus a...	OMIM:613610
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Premature birth, Increased nuchal translucency, Fetal intraventricular hemorrhage, Clinodactyly o...	OMIM:618480
Menkes Disease	Intracranial hemorrhage	OMIM:309400
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Anem...	OMIM:620040
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali...	ORPHA:178320
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithiasi...	OMIM:232200
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr...	OMIM:123550
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok...	OMIM:619377
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Micro...	ORPHA:86818
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Ascites, Mitral regurgitation	ORPHA:2848
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Hypoglycemia, Cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Decreas...	OMIM:607143
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi...	ORPHA:347
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Xerostomia, Ascites, Mucosal telangiectasiae	ORPHA:779
Myotubular Myopathy With Abnormal Genital Development	Atelectasis	OMIM:300219
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Osteogenesis Imperfecta	Aortic regurgitation, Bowing of the long bones, Rhizomelia, Micromelia, Diaphyseal thickening, Ce...	ORPHA:666
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb,...	ORPHA:124
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:136680
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ...	ORPHA:213
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Neonatal death, Intraventricular hemorrhage, Prolonged prothrombin time	OMIM:619055
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve...	ORPHA:261222
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Vascular dilatation, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus...	OMIM:613177
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Death in infancy, Polyhydramnios, Lymphedema, Splenomegaly, Ascites	OMIM:235255
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter	ORPHA:3409
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Abnormality of th...	ORPHA:449563
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis	ORPHA:88618
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia	OMIM:616069
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Thoracic aortic aneurysm, Respiratory tract infection, Atelectasis, Ab...	ORPHA:365
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Mogs-Cdg	Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot...	ORPHA:79330
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B vi...	ORPHA:90003
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Fraser Syndrome 3	Stillbirth, Ascites, Nonimmune hydrops fetalis, Oligohydramnios	OMIM:617667
Ovarian Fibrothecoma	Pleural effusion, Ascites	ORPHA:314478
Cirrhosis, Familial	Hypertension, Ascites, Pulmonary arterial hypertension	OMIM:215600
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El...	ORPHA:542323
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Palmar telangiectasia, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral ...	OMIM:607823
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Uveitis, Conjunctivitis, Increase...	ORPHA:90321
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage, Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices	OMIM:616507
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Neurocutaneous Melanocytosis	Intracranial hemorrhage	ORPHA:2481
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Premature birth, Rhizomelia, Polyhydramnios, Flared m...	ORPHA:50945
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Melas	Hypoparathyroidism, Diabetes mellitus, Proteinuria, Focal segmental glomerulosclerosis, Proximal ...	ORPHA:550
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, ...	ORPHA:440713
Juvenile Nephropathic Cystinosis	Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney...	ORPHA:411634
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Nonimmune hydrops fetalis, Brachydactyly	OMIM:618265
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein c...	ORPHA:355
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hydrops fetalis, Dehydra...	OMIM:557000
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Oligozoospermia, Decreased circulating total ...	OMIM:602668
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Polyhydramnios, Abn...	ORPHA:3472
Alg9-Cdg	Thickened nuchal skin fold, Decreased fetal movement, Ulnar deviation of the hand, Rhizomelia, Tr...	ORPHA:79328
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke	ORPHA:447788
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Hypocalcemia, Recurrent aphthous ...	OMIM:212750
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Right ventricular failure, Heart murmur, Palpitations, Facial telangiectasia, Ascites	ORPHA:100085
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ch...	OMIM:615846
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation,...	ORPHA:109
Coach Syndrome 2	Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Portal fibrosis, Hepa...	OMIM:619111
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci...	OMIM:262190
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arterio...	OMIM:153400
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet...	OMIM:276700
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:2088
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Patent ductus arteriosus, ...	ORPHA:163979
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Sclerosing Cholangitis, Neonatal	Splenomegaly, Ascites, Portal hypertension, Hepatomegaly	OMIM:617394
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Multiple Pterygium Syndrome, Escobar Variant	Decreased fetal movement, Syndactyly, Arachnodactyly, Rocker bottom foot, Patellar aplasia, Hydro...	OMIM:265000
Congenital Erythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Ed...	ORPHA:79277
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Ascending tubular aorta aneurysm,...	ORPHA:536467
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Mic...	OMIM:300519
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Intraventricular hemorrhage...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Intraventricular hemorrhage...	ORPHA:363958
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Ascites, Thrombocytopenia	OMIM:251880
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Cardiomyopathy, Reduced left ventricular ejection fraction, Arrhythmia, Pulmonary ar...	ORPHA:258
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo...	ORPHA:2879
Hepatoerythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormality ...	ORPHA:95159
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Renal Nutcracker Syndrome	Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundi...	ORPHA:2331
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, Hypovolemia, Dehydration, Hepatosp...	ORPHA:275761
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia	OMIM:618856
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis, ...	OMIM:263520
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Ulnar deviation of the hand, Premature birth, Nonimmune hydrops fetalis...	OMIM:208150
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated...	OMIM:201475
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski...	ORPHA:33001
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Polyhydramnios, Edema, Abnormal retinal artery morphology...	ORPHA:51608
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Polyhydramnios, Edema, Splenomegaly, Neonatal death, Ascites	OMIM:269860
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228305
Caroli Disease	Hepatomegaly, Liver abscess, Portal hypertension, Splenomegaly, Leukocytosis, Ascites	ORPHA:53035
Congenital Myopathy 22B, Severe Fetal	Decreased fetal movement, Scapular winging, Tapered toe, Nonimmune hydrops fetalis, Polyhydramnio...	OMIM:620369
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Classic Homocystinuria	Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ...	ORPHA:394
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Hepatocellular carcinom...	ORPHA:465508
Peripheral Primitive Neuroectodermal Tumor	Ascites, Pelvic mass, Anemia	ORPHA:370348
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Myoglobinuria, Hepatic steatosis,...	OMIM:231530
Greig Cephalopolysyndactyly Syndrome	Cryptorchidism, Hyperglycemia, Hypospadias	OMIM:175700
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Familial Mediterranean Fever	Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lympha...	ORPHA:342
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Spleno...	OMIM:181000
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	OMIM:613327
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Abnormality of the tonsils, Retinal arteriolar tortuosity, Splenomeg...	ORPHA:567
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon...	ORPHA:534
Xfe Progeroid Syndrome	Hypertension, Ascites, Death in adolescence	OMIM:610965
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Niemann-Pick Disease Type C	Fetal ascites, Bone-marrow foam cells, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Foam ce...	ORPHA:646
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Medulloblastoma	Neoplasm of the lung, Cerebellar hemorrhage	ORPHA:616
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Hennekam-Beemer Syndrome	Mastocytosis, Pneumonia	ORPHA:2135
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V...	OMIM:122470
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Polyhydramnios, Splenomegaly, Hepatosplenomegaly, Ascites	ORPHA:1655
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ...	ORPHA:3337
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria...	ORPHA:369837
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ...	ORPHA:324
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Death in infancy, Ascites, Congestive heart failure, Polyhydramnios	OMIM:617156
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr...	ORPHA:2177
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:608600
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An...	ORPHA:64744
Encephalitis Lethargica	Autoimmunity, Increased circulating antibody level, Urinary incontinence	ORPHA:83600
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Patent ductus arteriosus, Elbow...	OMIM:300868
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Arteria lusoria,...	OMIM:212093
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Agel Amyloidosis	Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Mycophenolate Mofetil Embryopathy	Foot polydactyly, Hydrops fetalis, Coarctation of aorta, Short palm	ORPHA:268249
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec...	OMIM:154230
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Polyhydramnios, Micromelia, Preaxial polydactyly, Hydrops fetalis	OMIM:616546
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Hepatosplenomegaly	OMIM:618278
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Donohue Syndrome	Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell ...	OMIM:246200
Dend Syndrome	Hyperglycemia, Autoimmune antibody positivity, Elevated hemoglobin A1c	ORPHA:79134
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria	OMIM:618857
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Dpagt1-Cdg	Prolonged QT interval, Decreased fetal movement, Arachnodactyly, Fetal akinesia sequence, Stroke-...	ORPHA:86309
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Senior-Boichis Syndrome	Portal hypertension, Hepatosplenomegaly, Hypertension, Ascites, Anemia	ORPHA:84081
Cockayne Syndrome Type 3	Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stro...	ORPHA:90324
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy	ORPHA:330001
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent...	ORPHA:343
Ddost-Cdg	Hepatic steatosis, Nephrotic range proteinuria	ORPHA:300536
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Meningioma	Syncope, Cerebral hemorrhage	ORPHA:2495
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu...	OMIM:175780
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Clinodactyly of the 5th finger, Patent ductus arteriosus, Overlapping toe, Cerebral hemorrhage	OMIM:616682
Relapsing Polychondritis	Pericarditis, Atelectasis, Myocarditis, Large vessel vasculitis, Vascular dilatation, Purpura	ORPHA:728
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia	ORPHA:2089
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp...	ORPHA:565
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax...	ORPHA:2929
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Niemann-Pick Disease, Type C2	Hepatomegaly, Death in infancy, Polyhydramnios, Fetal ascites, Bone-marrow foam cells, Splenomega...	OMIM:607625
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Eczema, Cryptorchidism, Acute lymphoblastic leukemia, Otitis media,...	OMIM:223370
Ohdo Syndrome	Cryptorchidism, Proteinuria	OMIM:249620
Combined Oxidative Phosphorylation Deficiency 54	Retrobulbar optic neuritis, Hyperglycemia	OMIM:619737
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomeru...	OMIM:619127
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Ascites, Polysplenia	OMIM:200995
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Fumarase Deficiency	Ascites, Polycythemia, Polyhydramnios	OMIM:606812
Bardet-Biedl Syndrome 9	Renal insufficiency, Hyperglycemia	OMIM:615986
Functioning Gonadotropic Adenoma	Ascites	ORPHA:91348
Vipoma	Hepatomegaly, Abnormal abdomen morphology, Dehydration, Hematochezia, Normochromic anemia, Ascites	ORPHA:97282
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Abnormality of t...	ORPHA:2162
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal abdomen morphology, Hypochromic microcytic an...	ORPHA:97283
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Patent ductus arterio...	OMIM:214100
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Ketonuria, Hypoglycemia, Hyperammonemia	OMIM:615453
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:98895
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Acute lymphoblastic leukemia...	ORPHA:1052
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper...	OMIM:208500
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Acanthocytosis, Abnormal abdomen morphology, Normochro...	ORPHA:97280
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Ascites, Thrombocytopenia, Hepatomegaly	OMIM:301072
Atresia Of Urethra	Pulmonary insufficiency, Ascites, Oligohydramnios	ORPHA:105
Scleromyxedema	Paraproteinemia, Abnormality of the kidney, Elevated circulating creatine kinase concentration	ORPHA:167635
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m...	ORPHA:247245
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria, Increased serum bile acid c...	OMIM:619685
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or...	ORPHA:556
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating...	OMIM:616878
Intrahepatic Cholestasis Of Pregnancy	Ascites	ORPHA:69665
Yunis-Varon Syndrome	Single transverse palmar crease, Polyhydramnios, Short metatarsal, Hydrops fetalis, Palmoplantar ...	OMIM:216340
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis	OMIM:209010
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney dis...	OMIM:608612
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Smooth...	ORPHA:1018
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Fetal polyuria, Premature birth, Polyhydramnios, Edema, Hydrops fetalis	OMIM:602522
Perlman Syndrome	Ascites, Polyhydramnios, Visceromegaly, Edema	OMIM:267000
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Highly elevated creatine kinase, Exercise-induced myoglobinuria	ORPHA:352479
Digeorge Syndrome	Atelectasis, Splenomegaly, Recurrent pneumonia, Patent ductus arteriosus, Abnormal thymus morphol...	OMIM:188400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Phace Syndrome	Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid...	ORPHA:42775
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Lactic...	ORPHA:3008
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Hepatosplenomegaly...	ORPHA:731
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology	ORPHA:97278
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Cryptorchidism, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Spondyloepimetaphyseal Dysplasia, Krakow Type	Eczema, Allergic rhinitis, Patent ductus arteriosus, Decreased circulating total IgM, Annular pan...	OMIM:618162
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My...	ORPHA:740
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Micronodular cirrhosis, Proteinuria	OMIM:192315
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Abnormal bleeding, Thrombocytopenia, Intracranial hemorrhage,...	ORPHA:90062
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Portal hypertension, Anasarca, Ascites, Anemia, Oligohydramnios	OMIM:613658
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hyperglycemia, Macronodular adrenal hyperplasia	OMIM:615954
Mitchell-Riley Syndrome	Ascites	OMIM:615710
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Long toe, Arachnodactyly, Arteri...	OMIM:619472
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Orchitis, Pustule, Hem...	ORPHA:761
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag...	OMIM:613795
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology	ORPHA:97261
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Adult-Onset Still Disease	Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity	ORPHA:829
Rabson-Mendenhall Syndrome	Enlarged ovaries, Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsuli...	ORPHA:769
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis	OMIM:257220
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys...	ORPHA:95455
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Thymic hormone decr...	OMIM:216400
Chand Syndrome	Atelectasis	ORPHA:1401
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Arachnoid Cyst	Subarachnoid hemorrhage	ORPHA:2356
Wagro Syndrome	Nephroblastoma, Proteinuria, Decreased testicular size	OMIM:612469
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Ascites	OMIM:256810
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Micropenis	OMIM:133540
Gallbladder Neuroendocrine Tumor	Ascites	ORPHA:100086
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Ovarian cyst, Glucose intolerance, Hyper...	OMIM:269880
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest,...	OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:607155
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Liver Disease, Severe Congenital	Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal left ventricular function, Leukopenia, Lym...	OMIM:619991
Cutis Marmorata Telangiectatica Congenita	Ascites, Telangiectasia of the skin	ORPHA:1556
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:206549
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Ch...	OMIM:124000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Witteveen-Kolk Syndrome	Toe syndactyly, Overlapping toe, Arachnodactyly, Polyhydramnios, Proximal placement of thumb, Sho...	OMIM:613406
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Anasarca, Ascites	OMIM:203700
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Pmm2-Cdg	Pericarditis, Proteinuria, Elevated circulating growth hormone concentration, Reduced thyroxin-bi...	ORPHA:79318
Trichorhinophalangeal Syndrome, Type Ii	Recurrent respiratory infections, Internal carotid artery dissection, Cerebral arteriovenous malf...	OMIM:150230
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Hypercholesterolemia, Micropenis, Pancreatitis	OMIM:619471
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Abnormality of ...	ORPHA:2750
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Cryptorchidism, Patent ductus arteriosus, Breast hypoplasia	ORPHA:1272
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat...	OMIM:311200
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki...	ORPHA:423
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrops fetalis, Short foot, S...	ORPHA:93271
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Abscess, Subarachnoid hemorrhage	ORPHA:139417
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes ...	OMIM:248370
Leprechaunism	Hepatomegaly, Enlarged ovaries, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria,...	ORPHA:508
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Chronic Graft Versus Host Disease	Pleural effusion, Pancytopenia, Ascites, Xerostomia	ORPHA:99921
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Myocarditis, Increa...	ORPHA:466677
Johanson-Blizzard Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Dilated cardiomyopathy, Anasarca, Death in child...	OMIM:243800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Hor...	ORPHA:444077
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Type I diabetes mellitus, Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin...	ORPHA:79102
Atypical Werner Syndrome	Renal neoplasm, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fas...	ORPHA:79474
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Hyperlipidemia, Adrenocortic...	ORPHA:293987
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Diabetes mellitus, Patent ductus arteriosus, Biliary at...	OMIM:600001
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypoglycemia, Microvesicular hepatic steatosis, Hyperammonemia, Hyperglyc...	OMIM:220111
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Cryptorchidism, Jaundice, Moderate albuminuria	OMIM:614231

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.

There is no histopathology data for Syk

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 Syk.

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

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MGI Allele	Allele Type	Produced
Syk^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Syk^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Syk^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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: Syk MGI:99515

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Electrocardiogram (ECG)

Human diseases caused by Syk mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data