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Gene: Vav2 MGI:102718

Gene Summary

Name:

vav 2 oncogene

Synonyms:

2810040F13Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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
increased eosinophil cell number	Vav2^{em1(IMPC)Marc}	HOM	Early adult	1.02×10^-09
hyperactivity	Vav2^{em1(IMPC)Marc}	HOM	Early adult	2.82×10^-06
thin ventricular wall	Vav2^{em1(IMPC)Marc}	HOM	Early adult	1.62×10^-05
decreased heart left ventricle size	Vav2^{em1(IMPC)Marc}	HOM	Early adult	3.07×10^-05
increased basophil cell number	Vav2^{em1(IMPC)Marc}	HOM	Early adult	5.66×10^-11

Download data as: TSV XLS

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Vav2 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 Vav2 (0 diseases)
Human diseases predicted to be associated with Vav2 (1754 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Vav2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Ocular hypertension	OMIM:618880
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Buphthalmos, Anterior ...	OMIM:269400
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Ocular hypertension	OMIM:617272
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Restrictive cardio...	OMIM:607685
Immunodeficiency 88	Eosinophilia	OMIM:619630
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Ocular hypertension, Uv...	ORPHA:98973
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Ocular hypertension, Shallow anterior chamber, Posterior synechiae ...	OMIM:613195
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension	OMIM:156600
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Glaucoma 1, Primary Open Angle, C	Ocular hypertension	OMIM:601682
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Posterior synechiae of...	OMIM:610256
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Anterior Segment Dysgenesis 1	Ocular hypertension, Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior ...	OMIM:107250
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Ocular hypertension, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior...	OMIM:614195
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Microphthalmia, Isolated 6	Microcornea, Ocular hypertension	OMIM:613517
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias...	ORPHA:369929
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Elevated hepa...	ORPHA:99845
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556037
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E...	ORPHA:556030
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was...	OMIM:610600
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Recurrent urinary tract infections, Hepatomegaly, Ventricular septal defect, Splenom...	OMIM:620210
Autosomal Dominant Polycystic Kidney Disease	Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated...	ORPHA:730
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Iris coloboma, Ocular hypertension, Peters anomaly	OMIM:610023
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre...	OMIM:615474
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D...	OMIM:203400
Neovascular Glaucoma	Iris neovascularization, Ocular hypertension, Corneal stromal edema, Abnormal uvea morphology, Ab...	ORPHA:94058
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal...	ORPHA:320
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa...	OMIM:264350
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Immunodeficiency 102	Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti...	OMIM:301082
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase afte...	ORPHA:159
Schizophrenia 15	Hyperactivity	OMIM:613950
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera...	OMIM:177735
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi...	OMIM:601198
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas...	ORPHA:90791
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, ...	ORPHA:95409
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi...	OMIM:540000
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Foam cells, Decreased circulating...	OMIM:619802
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Weill-Marchesani Syndrome 3	Ocular hypertension, Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec...	OMIM:613677
Muscle Filaminopathy	Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ...	ORPHA:171445
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Aapoaiv Amyloidosis	Paraproteinemia, Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine con...	ORPHA:439232
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Elevated...	OMIM:619048
Gaisböck Syndrome	Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Increa...	ORPHA:90041
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Decreased circulating total IgM, Hypert...	OMIM:182410
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Hy...	ORPHA:340
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy...	ORPHA:650
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem...	ORPHA:427
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent tonsillitis, Hyper...	ORPHA:171876
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Ele...	OMIM:616636
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph...	OMIM:235550
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Hypotension, Arrhythmia, ...	ORPHA:188
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ...	ORPHA:189427
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
Glaucoma 3, Primary Congenital, A	Buphthalmos, Late onset congenital glaucoma, Ocular hypertension	OMIM:231300
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo...	ORPHA:3282
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m...	OMIM:619705
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Esophagitis, Eosinophilic, 2	Eosinophilia, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Dysphagia	OMIM:610247
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Abnormal mitral valve morphology, Cryptorchidism, Arterial stenosis, Cerebral artery...	ORPHA:1192
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis...	ORPHA:514
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Increased circulating interleukin 6 concentration, Elevated circulatin...	ORPHA:90051
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Ocular hypertension, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, ...	OMIM:602499
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Congenit...	ORPHA:2260
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypertension, Hyperaldosteronism, Increased circulating r...	OMIM:612780
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Rhabdomyolysis, Ventric...	OMIM:263800
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hepatocellular c...	OMIM:232200
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor...	ORPHA:860
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free f...	ORPHA:276575
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level, Renal salt wasting	OMIM:619406
Glaucoma 1, Open Angle, F	Ocular hypertension	OMIM:603383
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh...	ORPHA:90065
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II...	ORPHA:225
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Lujo Hemorrhagic Fever	Shock, Lymphopenia, Renal insufficiency, Elevated hepatic transaminase, Elevated circulating C-re...	ORPHA:319213
Immunodeficiency With Hyper-Igm, Type 5	Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb...	OMIM:608106
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Sudden cardiac death, Left ventricular hypertrophy, Restrictive cardiomy...	OMIM:115210
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,...	OMIM:619824
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Hypertensio...	OMIM:121300
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ...	ORPHA:206546
Lassa Fever	Shock, Increased circulating IgM level, Jaundice, Oliguria	ORPHA:99824
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Syncope, ...	ORPHA:276580
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Cardiom...	OMIM:255100
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati...	ORPHA:168558
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Ocular hypertension, Anisocoria, Pos...	ORPHA:263479
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Hemolytic anemi...	OMIM:619487
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen cont...	ORPHA:263297
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Decreased circulating free fatty acid level, S...	ORPHA:276556
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Anuria, Hypertensive crisis, In...	ORPHA:544482
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Kimura Disease	Eosinophilia	ORPHA:482
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology	DECIPHER:39
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Right ventricular failure, Decreased prealbumin level, Reduced ...	ORPHA:90363
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolem...	ORPHA:31824
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hypokalemia, Hyperaldosteronism	OMIM:605635
Cln3 Disease	Vacuolated lymphocytes, Increased circulating androgen concentration, T-wave inversion, Bradycard...	ORPHA:228346
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De...	ORPHA:90793
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges...	ORPHA:727
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Facial palsy, Elevated circulating creatine kinase concent...	OMIM:613156
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Ocular hypertension, Spherophakia, Anterior synechiae of ...	OMIM:601552
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,...	OMIM:601678
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh...	ORPHA:449285
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev...	OMIM:613327
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Hypertension, Hypercholesterolemia, Premature coronary ...	OMIM:608320
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia	OMIM:189800
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,...	ORPHA:231632
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci...	OMIM:620282
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly...	OMIM:614921
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
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
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc...	OMIM:610947
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:617713
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn...	OMIM:618061
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Elevated circulating creatinine concentration, Hypertension, Abnormal renal ...	OMIM:616733
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature...	ORPHA:90795
Uveal Melanoma	Iris melanoma, Ocular hypertension, Inferior lens subluxation, Zonular cataract, Ciliary body mel...	ORPHA:39044
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Maturity-onset diabetes of the young, Maternal diabetes, Episodic hype...	ORPHA:324575
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L...	ORPHA:86812
Combined Oxidative Phosphorylation Deficiency 30	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:616974
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X...	ORPHA:220393
Myofibrillar Myopathy 10	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont...	OMIM:619040
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Carotid arte...	ORPHA:36382
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f...	ORPHA:73224
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Absent specific antibody response, Sever...	OMIM:102700
Liddle Syndrome 1	Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease...	OMIM:177200
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Ventriculomegaly, Neutropenia	ORPHA:2643
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ...	ORPHA:368
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E...	OMIM:614034
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Ocular hypertension, Posterior synechiae of the anterior ...	ORPHA:280921
Immunodeficiency 61	Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ...	OMIM:300310
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial...	OMIM:300280
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Orthostatic Hypotension 2	Anemia, Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Ocular hypertension, Keratitis, Abnormal pupil morphology, Abnormal c...	ORPHA:209959
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Lymphopenia, Peritoneal effusion, Pericardial effusion, Decreased circulating an...	ORPHA:90362
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa...	OMIM:232240
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Hypoalbuminemia, Atrial septal defect, Decreased circulating IgG...	ORPHA:505248
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu...	OMIM:235400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm...	ORPHA:331206
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo...	OMIM:300539
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap...	ORPHA:91139
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu...	OMIM:619355
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R...	OMIM:612201
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Relapsing Fever	Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react...	ORPHA:91547
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Porphyria Variegata	Hyponatremia, Proximal muscle weakness in upper limbs, Neurogenic bladder, Tachycardia, Elevated ...	ORPHA:79473
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ...	ORPHA:99827
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma...	OMIM:242900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Increased circulating interleukin 6 concentration, He...	ORPHA:542323
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Decreased circulating IgG level...	OMIM:620005
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ...	OMIM:608758
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
8P23.1 Duplication Syndrome	Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fallot, Hydrone...	ORPHA:251076
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Telangiectases of the cheeks	OMIM:615139
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c...	ORPHA:99829
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, S...	ORPHA:90064
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen...	ORPHA:466650
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Variegate Porphyria	Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tachycardia, Porph...	OMIM:176200
Congenital Disorder Of Glycosylation, Type Iil	Impaired T cell function, Elevated circulating creatine kinase concentration, Elevated gamma-glut...	OMIM:614576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card...	OMIM:212138
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602087
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Potocki-Shaffer Syndrome	Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism, Anemia	ORPHA:52022
Mogs-Cdg	Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hepatosplenomegal...	ORPHA:79330
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Birdshot Chorioretinopathy	Cataract, Abnormal chorioretinal morphology, Choroidal neovascularization, Ocular hypertension, A...	ORPHA:179
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Elbow contracture, Hydrocephalus, Patent ductus art...	OMIM:618162
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Paget Disease Of Bone 6	Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Left ventricular hyper...	OMIM:616833
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Decreased c...	OMIM:615577
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Hydrocephalus, Thrombocytopenia	OMIM:166990
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Overlap Myositis	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Abnormal circulating lipi...	ORPHA:206572
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Wells Syndrome	Eosinophilia	ORPHA:901
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop...	ORPHA:324
Congenital Disorder Of Glycosylation, Type Iid	Decreased muscle mass, Elevated circulating creatine kinase concentration, Elevated circulating a...	OMIM:607091
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:218030
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty...	ORPHA:263455
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis...	OMIM:214700
Ataxia-Telangiectasia	Elevated hepatic transaminase, Lymphopenia, Skeletal muscle atrophy, Diabetes mellitus, Telangiec...	ORPHA:100
Hereditary Coproporphyria	Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Hyponatremia, Abnormal circulat...	ORPHA:79273
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov...	ORPHA:280356
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Immunodeficiency 85 And Autoimmunity	Lymphopenia, T lymphocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decre...	OMIM:619510
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ...	OMIM:168000
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Long penis, Hyperinsulinemia, Hypercalci...	ORPHA:508
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Patent ductus arteri...	ORPHA:369837
Tularemia	Brain abscess, Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal...	ORPHA:3392
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic...	ORPHA:276608
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Abnormal intraocular pressure	ORPHA:209956
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita...	OMIM:202010
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Oculoauricular Syndrome	Cataract, Sclerocornea, Ocular hypertension, Chorioretinal atrophy, Developmental cataract, Micro...	OMIM:612109
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho...	OMIM:603909
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Atrial septal defect, Left ventricular hypertrophy,...	OMIM:242840
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont...	OMIM:615418
Congenital Microcoria	Ocular hypertension, Developmental cataract, Corneal stromal edema, Iris transillumination defect...	ORPHA:566
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,...	OMIM:602086
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,...	OMIM:614022
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva...	ORPHA:90038
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy, Increased CSF la...	OMIM:614458
Roifman Syndrome	Noncompaction cardiomyopathy, Splenomegaly, Ventricular septal defect, Eosinophilia	OMIM:616651
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Increased circulating IgE level, Incr...	OMIM:243700
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp...	ORPHA:94093
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor...	ORPHA:2041
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Ventriculomegaly, Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic sy...	ORPHA:488627
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hypertension, Hepatic stea...	ORPHA:79084
Pparg-Related Familial Partial Lipodystrophy	Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Hepatomegaly, Calf muscle pseudoh...	ORPHA:79083
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasi...	ORPHA:746
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonal...	OMIM:300755
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula...	OMIM:605373
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle...	ORPHA:254892
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Muscular dys...	OMIM:613153
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ...	OMIM:619774
Pituitary Gigantism	Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l...	ORPHA:99725
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Dilation of Virchow-Robin spaces, Transient ischemic attack, Lacunar stroke, Hypertension, Stroke	OMIM:616779
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro...	ORPHA:331235
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus art...	OMIM:601005
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Immunodeficiency, Common Variable, 6	Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro...	OMIM:613496
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Elevated circulating creatine kina...	OMIM:615980
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail...	ORPHA:139507
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ventriculomegaly	OMIM:618228
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c...	ORPHA:308552
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Immunodeficiency 22	Pericarditis, Abscess, Thrombocytopenia, Capillary leak, Decreased circulating total IgM, Decreas...	OMIM:615758
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Acute rhabdomyolysis, Premature thelarche, Cardiac arre...	OMIM:616878
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Hyperuricemia, Arr...	ORPHA:3222
Congenital Fibrinogen Deficiency	Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp...	ORPHA:335
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess	OMIM:618282
Alkaptonuria	Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u...	OMIM:203500
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Hypertension...	OMIM:105200
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hypoproteinemia, Ventricular...	ORPHA:26793
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart ...	ORPHA:3426
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle...	OMIM:614654
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Weakness of facial musculature, Rayn...	ORPHA:247691
Cinca Syndrome	Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly	OMIM:607115
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Anorexia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphop...	ORPHA:169160
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM...	OMIM:619752
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo...	OMIM:613845
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Stroke, Bacterial endocar...	ORPHA:1054
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Hyperlysinemia, Type I	Hyperactivity, Anemia	OMIM:238700
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu...	OMIM:617575
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, U...	ORPHA:221139
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu...	OMIM:618886
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu...	OMIM:613101
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus, Trapezius muscle aplasia	OMIM:600257
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp...	ORPHA:277
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Arthrogryposis multiplex congenita, Tetralogy of Fallot	ORPHA:250994
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Elevated circ...	OMIM:618183
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure...	OMIM:269920
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia, Dysphagia	ORPHA:2070
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Decreased circulating total IgM, Hypocalce...	OMIM:607143
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph...	ORPHA:79086
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr...	ORPHA:534
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemi...	ORPHA:97289
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased...	OMIM:616005
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Moyamoya Disease With Early-Onset Achalasia	Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte...	ORPHA:401945
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Dec...	OMIM:619750
Lambert Syndrome	Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Decreased circulating antibody lev...	ORPHA:1296
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens...	OMIM:219080
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Rhabdomyolysis, Hypokalemia, Palpitations, Goiter	OMIM:188580
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy...	OMIM:145600
Stiff-Person Syndrome	Tachycardia, Diabetes mellitus, Hyperhidrosis, Anemia, Proximal limb muscle stiffness, Hypertensi...	OMIM:184850
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated he...	OMIM:617253
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ragged-red muscle fibers, Primary ad...	OMIM:530000
Ritscher-Schinzel Syndrome 1	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Ventricul...	OMIM:220210
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Abnormal lymphocyte ...	ORPHA:300751
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Decreased circulating antibody level, Hypocystinemia, Decreased serum crea...	OMIM:617744
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, ...	ORPHA:525731
Von Hippel-Lindau Disease	Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Hyperhidrosis, Upper...	ORPHA:892
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ...	ORPHA:45452
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula...	ORPHA:97287
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Prominent superficial veins, Insulin-resi...	OMIM:608600
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Skeletal muscle hypertrophy, Hypertens...	OMIM:613877
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ...	OMIM:619167
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri...	ORPHA:94080
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Increased circulating IgE level, Coarctation of aorta	OMIM:616069
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive he...	ORPHA:49827
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid...	OMIM:603373
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c...	ORPHA:361
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Vasculitis, Lymphad...	ORPHA:83313
Acute Intermittent Porphyria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Tachycardia, Hyponatrem...	ORPHA:79276
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Glycogen Storage Disease Due To Acid Maltase Deficiency	Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal internal carotid arter...	ORPHA:365
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, A...	ORPHA:136
Lead Poisoning	Decreased HDL cholesterol concentration, Chronic kidney disease, Imbalanced hemoglobin synthesis,...	ORPHA:330015
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis...	ORPHA:157
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasi...	OMIM:615862
Mucopolysaccharidosis-Plus Syndrome	Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, ...	OMIM:617303
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I...	ORPHA:347
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Hyperhidrosis, Prominent U wa...	ORPHA:466677
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology, Ocular hypertension	ORPHA:98977
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ...	OMIM:619652
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension...	ORPHA:3156
Bacterial Toxic-Shock Syndrome	Shock, Renal insufficiency, Recurrent urinary tract infections, Myositis, Glomerulonephritis, Abs...	ORPHA:36234
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Nep...	OMIM:301000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Recurrent urinary tract infections, Diabetes mellitus, Liver abscess, Cholangiti...	ORPHA:183675
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of...	ORPHA:1329
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating c...	OMIM:619111
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Adrenal overactivity, Leio...	ORPHA:139411
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,...	ORPHA:293978
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe...	OMIM:618261
Ring Chromosome 21 Syndrome	Abnormal heart morphology, Diabetes insipidus, Holoprosencephaly, Decreased circulating antibody ...	ORPHA:1445
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp...	OMIM:611489
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Elevated circulating creatine kinase concentration, Hydrocephalus, Flexion contract...	OMIM:613155
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th...	ORPHA:85443
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf...	ORPHA:125
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral regurgitation, Pulmon...	OMIM:615355
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo...	ORPHA:173
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ...	ORPHA:99106
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, ...	ORPHA:423
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Congenital Disorder Of Glycosylation, Type Ia	Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Decrease...	OMIM:212065
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy...	ORPHA:31826
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Hypergonadotropic hypogonadism, Lower limb muscle weakness	OMIM:619737
Alg12-Cdg	Hypoalbuminemia, Hypocholesterolemia, Micropenis, Patent foramen ovale, Hyponatremia, Hypospadias...	ORPHA:79324
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Type I diabetes mellitus, Panhypogammaglobulinemia, Ventriculomegaly	ORPHA:251009
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Hepatic steatosis, Per...	OMIM:615846
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:618048
Irvan Syndrome	Ocular hypertension	ORPHA:209943
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Sneddon Syndrome	Intracranial hemorrhage, Nephropathy, Hypertension, Arterial stenosis	ORPHA:820
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ...	OMIM:602088
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly	OMIM:269840
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Ocular hypertension, Abnormal anterior eye segment mo...	ORPHA:67042
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Hypertension, Neoplasm of the ...	ORPHA:69077
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Abnormal heart morphology, Tachycardia, Hy...	ORPHA:79264
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Myopathy, Hypertension, Cirrhosis, Hepatic ...	ORPHA:363400
Liddle Syndrome	Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh...	ORPHA:1345
Cardiomyopathy, Dilated, 1B	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con...	OMIM:600884
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Bacterial endocarditis, Abnormal circulati...	ORPHA:48435
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
16P12.1P12.3 Triplication Syndrome	Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn...	ORPHA:485405
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting	OMIM:201710
Glutaric Aciduria Iii	Hyperthyroidism, Glutaric aciduria, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase activi...	OMIM:231690
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat...	OMIM:617872
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:609152
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Flexion contracture, Hypogonadism, Transient hypogammaglobulinemia of infancy	OMIM:251240
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Tetanus	Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ...	ORPHA:3299
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,...	ORPHA:494424
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic...	OMIM:615238
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def...	ORPHA:137675
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam...	ORPHA:31825
Reticular Dysgenesis	Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ...	ORPHA:33355
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ...	ORPHA:90037
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho...	OMIM:618986
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hemolytic-uremic syndrome, Hy...	ORPHA:2169
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circulating IgM ...	ORPHA:37748
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom...	OMIM:215250
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Intermediate Uveitis	Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Hepatomegaly, Elevated hepatic transaminase, Unilateral r...	OMIM:216360
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Iron def...	OMIM:226300
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he...	ORPHA:398124
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Ad...	OMIM:617053
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater...	OMIM:604367
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Thrombocytopenia, Gi...	OMIM:611209
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr...	OMIM:616084
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Bloom Syndrome	Hepatic steatosis, Elevated hemoglobin A1c, Cryptorchidism, Decreased circulating total IgM, Type...	OMIM:210900
Hypercalcemia, Infantile, 1	Polyuria, Decreased circulating parathyroid hormone level, Hypercalcemia, Nephrolithiasis, Hyperc...	OMIM:143880
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, De...	ORPHA:99811
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i...	ORPHA:3453
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Hydrocephalus, Abnormal localization of kidney, Mitral regurgitation, ...	ORPHA:83473
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia	ORPHA:100025
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil...	ORPHA:66529
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder	OMIM:617182
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Functional abnormality of the bladder, Myopathy	ORPHA:2571
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr...	ORPHA:276621
Igg4-Related Aortitis	Thoracic aortic aneurysm, Increased circulating IgG4 level, Elevated circulating C-reactive prote...	ORPHA:449400
Sympathetic Ophthalmia	Cataract, Ocular hypertension, Anterior chamber cells, Posterior synechiae of the anterior chambe...	ORPHA:79098
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva...	OMIM:618620
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Hydrocephalus, Decreased circulating total IgM, Lateral ventricle dil...	OMIM:612301
Mitochondrial Complex I Deficiency, Nuclear Type 16	Aplasia of the left hemidiaphragm, Adrenal insufficiency, Increased CSF lactate	OMIM:618238
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P...	ORPHA:29072
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Hypertension, Hypogonadism, Limb muscle weakness, Diabetes...	ORPHA:97229
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cardiomegaly, Hydrocephalus, Jaund...	ORPHA:858
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi...	ORPHA:97214
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ...	ORPHA:562
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno...	ORPHA:79644
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Hyperhidrosis, Hypertension, Hypotension, Hepatic failure, Acute kid...	ORPHA:43116
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,...	ORPHA:391487
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Jaundice, H...	ORPHA:381
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Bilateral cryptorchidism, Secundum atrial se...	ORPHA:1600
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
X-Linked Adrenoleukodystrophy	Neurogenic bladder, Increased circulating ACTH level, Adrenal insufficiency, Leg muscle stiffness...	ORPHA:43
Syndromic Diarrhea	Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepa...	ORPHA:84064
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Pure Autonomic Failure	Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca...	ORPHA:441
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Abnormal pericardium mo...	ORPHA:183
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim...	ORPHA:1855
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein ...	ORPHA:420741
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ...	ORPHA:90033
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate...	OMIM:115310
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp...	OMIM:618619
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension	OMIM:267430
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fib...	ORPHA:1349
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Precocious atherosclerosis, Mi...	ORPHA:275761
Alagille Syndrome	Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cr...	ORPHA:52
Mucopolysaccharidosis, Type X	Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in...	OMIM:619698
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephr...	ORPHA:110
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79332
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Immunodeficiency 87 And Autoimmunity	Abnormal lymphocyte proliferation, Elevated circulating C-reactive protein concentration, Elevate...	OMIM:619573
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes ins...	OMIM:209900
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy, Nonketotic hyperglycinemia	ORPHA:401866
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morphology, Venou...	ORPHA:542643
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet...	ORPHA:3027
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Ventriculomegaly, Telangiectases producing 'marbled' skin	OMIM:206570
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus, Flexion contracture	OMIM:300884
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper...	OMIM:239200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Cryptorchidism, Hypospadias, Decreased circulating antibody level	OMIM:616910
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Precocious atherosclerosis,...	ORPHA:280365
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade...	ORPHA:397596
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Hydroc...	ORPHA:1926
Stiff Skin Syndrome	Nephrolithiasis, Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus	ORPHA:2833
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Nelson Syndrome	Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort...	ORPHA:199244
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi...	OMIM:617780
3C Syndrome	Hypoplasia of penis, Ventriculomegaly, Hypospadias, Ventricular septal defect, Adrenal hypoplasia...	ORPHA:7
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Reduced le...	ORPHA:79329
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia	ORPHA:2902
Alport Syndrome	Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi...	ORPHA:63
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Eosinophilia, Lymphocytosis	ORPHA:139402
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgi...	OMIM:173900
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level	OMIM:193670
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Increased urinary glycerol, Abnormal ci...	ORPHA:348
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab...	ORPHA:980
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcif...	OMIM:208060
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia...	OMIM:201750
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,...	ORPHA:75233
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration	OMIM:266100
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga...	OMIM:208085
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood...	ORPHA:251004
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp...	ORPHA:230851
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Micropenis, Ovarian serous cystadeno...	ORPHA:1772
Cystic Echinococcosis	Eosinophilia, Abscess, Abnormal heart morphology, Splenic cyst, Peritoneal abscess	ORPHA:400
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Pure red cell a...	ORPHA:99867
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Glucocorticoid Resistance, Generalized	Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s...	OMIM:615962
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Abnormality...	ORPHA:228123
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis	ORPHA:181
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva...	OMIM:613070
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Diencephalic Syndrome	Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Long penis, Hyperhidrosis	ORPHA:1672
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Hyperkalemia, Renal hypopl...	OMIM:617595
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Hypospadias, Cryptorchidism, Penoscrotal transposition, Patent ductus arteriosus, ...	OMIM:619148
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Genera...	ORPHA:171
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Proteinuria, Ventricular septa...	OMIM:613404
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abn...	ORPHA:1666
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra...	OMIM:301078
Graft Versus Host Disease	Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Dupuytren contracture, Tachycar...	ORPHA:39812
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia, Hypothyroidism, Ventriculomegaly	OMIM:619851
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr...	ORPHA:251992
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco...	OMIM:618913
Naxos Disease	Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric...	ORPHA:34217
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Arth...	OMIM:232500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte...	ORPHA:77296
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98855
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal...	ORPHA:1764
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri...	ORPHA:371428
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, D...	ORPHA:79259
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ...	OMIM:240300
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cho...	OMIM:615630
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia	OMIM:617388
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate...	OMIM:613610
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Abnormal left vent...	ORPHA:36913
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy, Ventriculomegaly	OMIM:618321
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin	ORPHA:90036
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car...	OMIM:208000
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder	OMIM:300076
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein...	ORPHA:71273
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Gaucher Disease	Elevated circulating C-reactive protein concentration, Cherry red spot of the macula, Hepatomegal...	ORPHA:355
Edinburgh Malformation Syndrome	Hydrocephalus, Neonatal hyperbilirubinemia, Jaundice	OMIM:129850
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Mercury Poisoning	Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury	ORPHA:330021
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Hypercholesterolemia, Cholangiti...	ORPHA:69663
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Subependymal nodules, Carcinoid tumor, ...	ORPHA:805
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98853
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level,...	ORPHA:264675
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydroc...	OMIM:610333
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Leber Hereditary Optic Neuropathy	Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Granulomatosis, Abnormality of the hypotha...	ORPHA:900
Distal Deletion 13Q	Encephalocele, Renal hypoplasia/aplasia, Primary adrenal insufficiency, Anencephaly, Abnormal car...	ORPHA:1590
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventricular septal defect, Hydrocephalus, Leukemia, Nephroblastoma, Ventriculomegaly	OMIM:602501
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ...	ORPHA:276
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Hepatocellular carci...	OMIM:176000
Poems Syndrome	Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Pericardial effusion, Prima...	ORPHA:2905
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Attention deficit hyperactivi...	OMIM:620141
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Elevated circulating creatinine con...	OMIM:223900
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Multiple Endocrine Neoplasia Type 2	Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary...	ORPHA:653
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Tangier Disease	Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio...	ORPHA:31150
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty	ORPHA:141333
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu...	OMIM:264800
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98863
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA...	OMIM:616034
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn...	OMIM:222470
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Sarcoidosis	Abnormal cerebrospinal fluid morphology, Heart block, Increased T cell count, Ventricular tachyca...	ORPHA:797
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Whipple Disease	Gastrointestinal hemorrhage, Hyponatremia, Myositis, Pericarditis, Hepatomegaly, Myocardial infar...	ORPHA:3452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda...	OMIM:613385
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephrit...	OMIM:619351
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Werner Syndrome	Renal neoplasm, Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnor...	ORPHA:902
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchid...	ORPHA:1166
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Abnormality of the...	ORPHA:186
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er...	ORPHA:447
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased ci...	OMIM:201810
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:91355
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy...	ORPHA:272
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St...	ORPHA:567546
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Mi...	ORPHA:2183
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Abnormal muscle fiber morphology, Cryptorchidism, Hydrocephalus, Abnormal heart morp...	OMIM:175700
Hydroxykynureninuria	Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension	ORPHA:79155
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:79443
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Anem...	OMIM:620040
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Noonan Syndrome 10	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, Coarc...	OMIM:616564
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus	OMIM:210350
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Elevated circulat...	ORPHA:521219
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hy...	OMIM:219090
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,...	ORPHA:35858
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia, Moyamoya phenomenon	OMIM:615750
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Renal cyst, Intracranial he...	OMIM:614424
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Thrombocyto...	ORPHA:169105
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Lymp...	OMIM:618495
Facial Spasm	Anisocoria	OMIM:134300
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Ventricu...	OMIM:611812
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, ...	OMIM:615122
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Ventricular septal defect, Adrenal hypoplasia, Dextrocardia, Crypt...	OMIM:264480
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Leukopenia, Increased circulating IgG level, Hypoalbuminemia, Abnormal ...	ORPHA:2298
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Denys-Drash Syndrome	Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma	ORPHA:220
Wagro Syndrome	Aniridia, Cataract, Corneal opacity, Ocular hypertension	OMIM:612469
Emanuel Syndrome	Recurrent urinary tract infections, Torticollis, Truncus arteriosus, Ventricular septal defect, U...	OMIM:609029
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Contracture of the d...	ORPHA:83617
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly, ...	OMIM:151660
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut...	OMIM:601495
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Hy...	ORPHA:449291
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Hydrocephalus, Elevated circulating long chain fatty acid concentr...	OMIM:614886
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly	OMIM:300886
H Syndrome	Diabetes mellitus, Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Hydrocepha...	ORPHA:168569
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Aplastic anemia, Renal agenesis, Hypergonadotropic hypogonadism, Ventricular se...	OMIM:300514
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal...	ORPHA:261102
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Eosinophilia	OMIM:158310
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Panhypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95513
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e...	OMIM:261740
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary a...	ORPHA:589
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95512
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne...	ORPHA:96149
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Triple A Syndrome	Abnormality of the calf musculature, Anterior hypopituitarism, Adrenal insufficiency, Abnormality...	ORPHA:869
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N...	OMIM:617729
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Late...	OMIM:300952
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Dex...	OMIM:620305
Bardet-Biedl Syndrome 17	Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog...	OMIM:615994
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy,...	ORPHA:370959
Vici Syndrome	Decreased circulating IgG2 level, Ureteral atresia, Renal tubular acidosis, Cardiomyopathy, Decre...	ORPHA:1493
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,...	OMIM:609757
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le...	OMIM:617099
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr...	OMIM:619127
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Aque...	OMIM:619534
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmat...	OMIM:619488
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Central Precocious Puberty In Male	Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad...	ORPHA:649929
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Uni...	ORPHA:96170
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Hyperhidrosis, Leukopenia, ...	ORPHA:1304
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Monosomy 18P	Hypertension, Hypothyroidism, Holoprosencephaly	ORPHA:1598
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art...	ORPHA:51608
Fried Syndrome	Skeletal muscle atrophy, Hydrocephalus	ORPHA:85335
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Extra-axial cerebrospinal fluid accumulation, Hypothyroidism	OMIM:617763
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ...	ORPHA:90790
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Occipital encephalocele, Multicystic kidney dysplasia, Renal insuf...	ORPHA:1454
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contrac...	ORPHA:90321
Mucolipidosis Type Ii	Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra...	ORPHA:576
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocephalus, Elbow flexio...	OMIM:245600
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Abnormal pericardium morphology, Abnormal spleen morphology, Anemia,...	ORPHA:284
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop...	OMIM:227646
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology	ORPHA:2185
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia...	ORPHA:567
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte...	ORPHA:56
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Macrocephaly/Autism Syndrome	Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Decreased circula...	OMIM:605309
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Abnormal...	ORPHA:93473
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ...	OMIM:218350
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, O...	ORPHA:199299
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated cardiomyopathy,...	ORPHA:3260
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:613154
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Dilatation of the cerebral artery, Decreased liver function, Polycystic kidney dysp...	OMIM:600666
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ...	ORPHA:99103
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Heparan sulfa...	OMIM:309900
Ataxia-Telangiectasia	Conjunctival telangiectasia, Lymphopenia, Diabetes mellitus, Female hypogonadism, Elevated circul...	OMIM:208900
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ...	ORPHA:97282
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, He...	OMIM:243910
Flynn-Aird Syndrome	Skeletal muscle atrophy, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II...	ORPHA:2047
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperp...	ORPHA:96181
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va...	OMIM:220220
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Distal Triplication 15Q	Abnormality of the kidney, Hydrocephalus, Flexion contracture, Dilatation of the renal pelvis, Pa...	ORPHA:314588
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H...	OMIM:616222
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Elevated circulating C-reactive protein concentration, Increas...	OMIM:615934
Tenorio Syndrome	Raynaud phenomenon, Hydrocephalus, Macroglossia, Enuresis, Syncope, Hypoinsulinemia, Ventriculome...	OMIM:616260
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat...	ORPHA:90673
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, F...	ORPHA:261290
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Flexion contracture...	OMIM:614008
Melas	Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in m...	ORPHA:550
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture	OMIM:619470
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry...	ORPHA:739
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Holoprosencephaly, Hypocholesterolemia, Atrial septal defect, Microp...	OMIM:270400
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Decreased circulating IgA level	DECIPHER:45
Thanatophoric Dysplasia Type 2	Encephalocele, Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Holoprosenceph...	ORPHA:93274
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi...	OMIM:619758
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hyperhidrosis, H...	OMIM:614653
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Hydrocephalus, Fl...	ORPHA:99947
Adrenomyodystrophy	Primary adrenal insufficiency, Megacystis, Myopathy, Abnormality of the urinary system, Hepatic s...	ORPHA:977
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hyponatremia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac...	OMIM:617913
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Renal hypop...	ORPHA:171839
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t...	ORPHA:364055
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Hepatomegaly, Proximal tubulopathy, Polyuria	OMIM:560000
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ...	OMIM:618165
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno...	ORPHA:100079
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, ...	ORPHA:1335
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Progressive flexion contractures, Hypertension, Transient hyperphenylalaninemia, Dec...	ORPHA:98808
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Micropenis, Anterior hypopituitarism, Renal dysplasia	OMIM:241800
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao...	ORPHA:3400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
Tetrasomy 15Q26	Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Camptodactyly...	OMIM:614846
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly	OMIM:613320
Mucopolysaccharidosis Type 2, Severe Form	Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ...	ORPHA:217085
Nephroblastoma	Lymphadenopathy, Hematuria, Hypertension, Neoplasm of the liver, Nephroblastoma	ORPHA:654
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Hypospadias, Mitral atresia, Increased hepatocellular lipid dro...	OMIM:220111
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s...	ORPHA:47
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Paroxysmal Hemicrania	Hypertension, Diabetes mellitus	ORPHA:157835
Thyrotoxic Periodic Paralysis	Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi...	ORPHA:79102
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ...	ORPHA:261476
Congenital Sialidosis Type 2	Abnormal EKG, Hepatomegaly, Abnormality of the kidney, Hydrocephalus, Abnormal heart morphology, ...	ORPHA:93400
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Increased circulating IgG4 level, Eosinophilia, A...	ORPHA:449432
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E...	OMIM:617072
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat...	ORPHA:137667
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Ventriculomegal...	OMIM:618314
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Limb joint contracture, Central adrenal i...	OMIM:612079
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocep...	ORPHA:163596
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ...	ORPHA:217093
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
High Altitude Pulmonary Edema	Leukocytosis, Tachycardia	ORPHA:330012
Hyperostosis Cranialis Interna	Ocular hypertension	OMIM:144755
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus, Hydronephrosis	ORPHA:251046
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Camptodactyly of finger, Supernumerary nipple, Unilateral renal...	OMIM:619951
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Prematu...	ORPHA:79474
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp...	ORPHA:90794
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi...	ORPHA:275
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M...	ORPHA:904
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial...	ORPHA:284984
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Entero...	OMIM:307200
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Increased urinary glycerol	OMIM:229700
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Decreased circulating antibody level, Ma...	ORPHA:2268
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys...	OMIM:158350
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d...	ORPHA:411709
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Thanatophoric Dysplasia	Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventric...	ORPHA:2655
Temple Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc...	ORPHA:254516
Rift Valley Fever	Elevated hepatic transaminase, Hematemesis, CSF pleocytosis, Jaundice, Retinal hemorrhage, Hepati...	ORPHA:319251
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Patent ductus arteri...	ORPHA:2306
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati...	OMIM:208050
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Agam...	OMIM:209920
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Holoprosencephal...	ORPHA:2162
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Ppoma	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circ...	ORPHA:97278
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Hypertension, Hypoalbuminemia, V...	OMIM:610965
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri...	ORPHA:466791
Alexander Disease	Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Aqueductal stenosis, H...	ORPHA:58
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria, Arrhythmi...	OMIM:614052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Muscular dystrophy, Ventriculomegaly	OMIM:614830
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Vasc...	OMIM:603387
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocystinemia, Neutropenia, Gl...	ORPHA:79282
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Atrial septal ...	OMIM:274000
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Secundum atri...	OMIM:617397
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Increased circulating interleuk...	OMIM:256040
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens...	ORPHA:974
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Camptodactyly, ...	ORPHA:459061
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Smith-Kingsmore Syndrome	Diastasis recti, Cryptorchidism, Thrombocytopenia, Ventriculomegaly, Decreased circulating IgA level	OMIM:616638
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Primary Ciliary Dyskinesia	Abnormal inferior vena cava morphology, Abnormal atrial arrangement, Atrial situs ambiguous, Aspl...	ORPHA:244
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Cryptorchidis...	ORPHA:912
Adrenoleukodystrophy	Urinary incontinence, Primary adrenal insufficiency, Hypogonadism, Elevated circulating long chai...	OMIM:300100
Cockayne Syndrome A	Anhidrosis, Renal insufficiency, Hip contracture, Proteinuria, Hepatomegaly, Cryptorchidism, Sple...	OMIM:216400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell cou...	OMIM:242860
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis	ORPHA:2701
Adrenomyeloneuropathy	Urinary incontinence, Abnormal circulating fatty-acid concentration, Primary adrenal insufficienc...	ORPHA:139399
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Vascular dilatation, Hydrocephalus, Tubular lumin...	OMIM:219730
Netherton Syndrome	Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu...	ORPHA:634
Glucagonoma	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Hypercalc...	ORPHA:97280
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap...	ORPHA:261344
Fanconi Anemia	Leukopenia, Abnormality of the liver, Atrial septal defect, Abnormality of the hypothalamus-pitui...	ORPHA:84
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Diastasis recti, Cryptorchidism, Ventriculomegaly, Decreased circulating IgA level	ORPHA:457485
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ...	ORPHA:273
Incontinentia Pigmenti	Eosinophilia, Attention deficit hyperactivity disorder	ORPHA:464
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Complete atrioventricular canal defect,...	OMIM:236680
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Asplenia, Dandy-Walker malformation, Accessory splee...	OMIM:249000
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen, Hydrocephal...	ORPHA:1834
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Abnor...	ORPHA:3376
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri...	ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi...	OMIM:617600
Mucopolysaccharidosis, Type Iiib	Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Igg4-Related Pachymeningitis	Increased CSF protein concentration, Eosinophilia, Increased circulating IgG4 level, Lower limb m...	ORPHA:449427
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Hydrocephal...	OMIM:607014
Tick-Borne Encephalitis	Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Elevated circulating C-reac...	ORPHA:297
Rasmussen Subacute Encephalitis	Decreased circulating total IgA, Increased CSF protein concentration, Ventriculomegaly, Abnormal ...	ORPHA:1929
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Bi...	OMIM:611134
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hydro...	OMIM:253800
Cirrhosis, Familial	Jaundice, Fulminant hepatitis, Micronodular cirrhosis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f...	OMIM:620351
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ...	ORPHA:134
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Thyroiditis, Steatorrhea, Iron deficiency anemi...	OMIM:212750
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate excretion in urin...	OMIM:253220
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Fg Syndrome Type 1	Hypospadias, Progressive flexion contractures, Cryptorchidism, Hydrocephalus, Mitral valve prolap...	ORPHA:93932
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Absent nipple, Bicuspid aortic valve, Tricuspi...	OMIM:612289
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Congenital muscular dystrophy, Ventriculomegaly	ORPHA:324416
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def...	ORPHA:881
Williams-Beuren Syndrome	Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, A...	OMIM:194050
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vascu...	ORPHA:1572
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Neurogenic bladder, Diabetes mellitus, Decreased ...	OMIM:604928
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Walker-Warburg Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Ab...	ORPHA:899
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Abnormality of the thyroid gland, Coarctation of aorta, A...	ORPHA:1923
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Hyd...	ORPHA:163979
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Orthostatic hypotension, Adrenocorticotropin receptor defec...	OMIM:231550
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Tempi Syndrome	Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev...	ORPHA:284227
Hennekam Syndrome	Camptodactyly of finger, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangie...	ORPHA:2136
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Decreased circulating T...	ORPHA:90674
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ...	OMIM:131100
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Hydrocephalus	ORPHA:1516
Japanese Encephalitis	Hyponatremia, Skeletal muscle atrophy, Neutrophilia, Facial palsy, CSF pleocytosis, Elbow flexion...	ORPHA:79139
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Hydrocephalus, Anemia, Elevated circulati...	OMIM:259700
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Hydrocephalus, Urethral atresia, Transposition of the great arteries, Atrioventricu...	OMIM:314390
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal...	ORPHA:90340
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri...	OMIM:617877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus, Muscular dystrophy, Elevated circulating creatine kinase concentration	OMIM:615181
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Tubulointerstitial fibrosis	OMIM:263000
Renal Hypodysplasia/Aplasia 1	Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Scapular winging, Hydrocephalus, Mitral valve prolapse, Hypertensi...	OMIM:616914
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va...	ORPHA:580
Muscle-Eye-Brain Disease	Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Myopathy, Holopro...	ORPHA:588
Postorgasmic Illness Syndrome	Hypertension, Xerostomia, Palpitations, Hyperhidrosis	ORPHA:279947
Cartilage-Hair Hypoplasia	Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:175
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Nephroblastoma, Congenital diap...	OMIM:194080
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Lymphadenopathy, Hema...	ORPHA:536
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Encephalitis Lethargica	Urinary incontinence, Upper limb muscle weakness, Increased circulating antibody level, Bradycard...	ORPHA:83600
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hydro...	ORPHA:2075
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Vascular dilatation, Hydrocephalus, Horsesh...	OMIM:602200
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia, Abnormal cerebrospinal fluid morphology	ORPHA:448237
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration, Reduced galactocerebrosidase activity, Autoim...	OMIM:245200
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Renal hypoplasia/aplasia, Cr...	ORPHA:2166
Helix Syndrome	Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hype...	OMIM:617671
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Vesi...	ORPHA:85284
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neutropenia,...	OMIM:607944
Infant Botulism	Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension	ORPHA:178478
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con...	OMIM:618775
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Congestive heart failu...	ORPHA:579
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Pseudohypoaldosteronism Type 2	Hypertension, Hyperkalemia	ORPHA:757
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Diabetes insipidus, Polyuria, Megacystis	OMIM:304800
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h...	OMIM:181270
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Vascular dilatation, Myelomeningocele, Hydrocephalus, Abnormal hea...	OMIM:311200
Tetraamelia Syndrome 1	Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Hydrocephalus, Urethral atresia, Adren...	OMIM:273395
Lowry-Maclean Syndrome	Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormality of the abdomi...	ORPHA:2409
Hogue-Janssen Syndrome 2	Ventriculomegaly, Facial hypotonia, Hydrocephalus, Unilateral renal agenesis	OMIM:616362
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Ventriculomegaly, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital h...	OMIM:266920
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Splenomegaly, Primary adrenal...	OMIM:261515
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Nephroblastoma, Cryptorchidism, Hydr...	OMIM:257300
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Decrease...	ORPHA:488632
Myhre Syndrome	Abnormal penis morphology, Hypospadias, Precocious puberty, Cryptorchidism, Epispadias, Skeletal ...	ORPHA:2588
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Renal cell carcinoma, Pheochromocytoma,...	OMIM:193300
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Hydrocephalus, S...	OMIM:613001
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Unilateral renal agenesis, Pa...	OMIM:618188
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism	ORPHA:93256
Acute Transverse Myelitis	Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Absces...	ORPHA:139417
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
1P31P32 Microdeletion Syndrome	Ocular hypertension	ORPHA:401986
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Urinary incontinence, Subarachnoid...	ORPHA:2356
Scimitar Syndrome	Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing...	ORPHA:185
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ...	ORPHA:64744
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Anterior chamber synechiae, Uveitis, Band keratopathy	ORPHA:85410
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality ...	ORPHA:2969
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Cerebral artery stenosis, Rhabdomyosarcoma, Precocious puberty, Abnor...	ORPHA:97685
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:963
Neurofibromatosis, Type I	Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytom...	OMIM:162200
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology	OMIM:276950
47,Xyy Syndrome	Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Increased s...	ORPHA:8
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane...	ORPHA:1908
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
1Q44 Microdeletion Syndrome	Hydrocephalus, Horseshoe kidney, Abnormal cardiac septum morphology, Vesicoureteral reflux, Ventr...	ORPHA:238769
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Reduced leukocyte arylsulfatase B activity, Splenomegaly, ...	OMIM:253200
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Ventriculomegaly, Facial palsy, Aplasia of the pectoralis major muscle, ...	ORPHA:1358
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ...	ORPHA:1359
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc...	ORPHA:54595
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Hyp...	ORPHA:2461
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Dysplastic tricuspid valve,...	OMIM:612863
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulatin...	OMIM:101800
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micropenis, Ovarian gonadoblast...	ORPHA:251510
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, C...	OMIM:307030
Autosomal Agammaglobulinemia	Agammaglobulinemia, Hepatitis, Neutropenia	ORPHA:33110
Neonatal Adrenoleukodystrophy	Abnormality of the liver, Primary adrenal insufficiency	ORPHA:44
Juvenile Paget Disease	Hypertension, Hyperuricemia	ORPHA:2801
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Prader-Willi Syndrome	Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul...	OMIM:176270
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
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
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy...	OMIM:615745
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Precocious puberty, Renal cyst, Cardiac rhabdomyoma, Renal cell c...	OMIM:191100
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:314769
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong...	ORPHA:2322
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Hemangioblastoma	Upper limb muscle weakness, Neurogenic bladder, Lower limb muscle weakness, Hydrocephalus	ORPHA:252054
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus-p...	ORPHA:2318
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Facial palsy, Hydrocephalus, Hypocalcemia, Anemia	ORPHA:53
Isolated Anencephaly/Exencephaly	Anencephaly, Primary adrenal insufficiency	ORPHA:1048
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Atrial septal...	OMIM:612582
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextroca...	OMIM:613686
Pagod Syndrome	Encephalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/ap...	ORPHA:991
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Joubert Syndrome With Renal Defect	Encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus-p...	ORPHA:220497
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Optic Pathway Glioma	Precocious puberty, Hydrocephalus	ORPHA:2086
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin...	OMIM:606056
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Hypertrophic ...	OMIM:612938
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, ...	OMIM:310400
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Congenital diaphragmatic hernia	ORPHA:380
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Hepatomegaly, Malformation of the hepatic ...	OMIM:607361
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Facial palsy, Elevated circulating creatine kinase concentration, ...	OMIM:610131
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Fanconi Anemia, Complementation Group R	Hydrocephalus, Pelvic kidney, Bone marrow hypocellularity, Anemia	OMIM:617244
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Ventriculomegaly, Rhabdomyosarcoma, Coarctati...	ORPHA:1052
Trisomy 8P	Peripheral pulmonary artery stenosis, Multiple joint contractures, Abnormal atrioventricular conn...	ORPHA:264450
Poliomyelitis	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe...	ORPHA:2912
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Reduced ...	OMIM:231670
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus	OMIM:618174
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Juncti...	OMIM:309801
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Lip...	OMIM:616580
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Renal cyst, Knee flexion contracture, Atrial septal defect, Micropenis, Pate...	OMIM:210710
Dural Sinus Malformation	Chemosis, Ocular hypertension	ORPHA:97339
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pa...	ORPHA:2750
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Jaundice, Hepatitis, Hyperammo...	ORPHA:90062
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep...	OMIM:614947
Familial Bicuspid Aortic Valve	Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Meacham Syndrome	Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t...	ORPHA:3097
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Adrenal insufficiency, Decreased liver function, Ureterocele	OMIM:614863
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Facial palsy, Splenom...	OMIM:259720
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Lateral Meningocele Syndrome	Neurogenic bladder, Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Cryp...	OMIM:130720
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Paten...	ORPHA:77298
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure...	ORPHA:508542
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome...	ORPHA:740
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Ventriculomegaly	OMIM:618577
Oxoglutaric Aciduria	Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism, Hydrocephalus, Abnormal urine alp...	ORPHA:31
Nail-Patella Syndrome	Ocular hypertension, Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glauco...	ORPHA:2614
Say-Barber-Miller Syndrome	Cryptorchidism, Transient hypogammaglobulinemia of infancy, Elbow flexion contracture, Decreased ...	ORPHA:3132
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventric...	ORPHA:1860
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele, Cardiomyopathy, Endocardial fibroelastosis, Arrhy...	ORPHA:2119
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu...	ORPHA:90647
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Lower limb muscle weakn...	ORPHA:395
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Decreased circulating antibod...	ORPHA:51636
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub...	OMIM:613254
Cockayne Syndrome B	Anhidrosis, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Cryptorchidism, Hyperte...	OMIM:133540
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Musculocontractural Ehlers-Danlos Syndrome	Astigmatism, Ocular hypertension	ORPHA:2953
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Hydrocephalus, Flex...	ORPHA:581
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Immunodeficiency 56	Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Panh...	OMIM:615207
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth...	ORPHA:60040
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Meacham Syndrome	Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso...	OMIM:608978
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Hydrocephalus, Grade II vesicoureteral reflux, Cho...	OMIM:619377
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macrogl...	OMIM:248500
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Hypohidrosis, Hypothyro...	ORPHA:1812
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ...	OMIM:100300
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnorma...	ORPHA:2184
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Pulmonary arteriovenous malformation, Hy...	OMIM:606721
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Microphallus, H...	OMIM:612651
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Desmosterolosis	Renal agenesis, Renal hypoplasia/aplasia, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, ...	ORPHA:35107
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Dys...	OMIM:251260
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Abnormal circulating fatty-acid concentration, Myelopathy, ...	ORPHA:139396
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Neurofibromatosis Type 1	Abnormality of the upper urinary tract, Abnormality of the endocrine system, Cryptorchidism, Prec...	ORPHA:636
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, A...	OMIM:269860
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Ventriculomegaly, Abn...	ORPHA:2072
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Elevated circulating alkaline phosphatase concentration, Hydrocephalus, Abnormal renal morphology...	OMIM:239300
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Increased circulat...	OMIM:619472
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, Inte...	ORPHA:250989
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism, Micropenis, Dilated third ventr...	ORPHA:500055
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Pericardial effusion, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex co...	OMIM:617822
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Microphthalmia, Syndromic 2	Contracture of the proximal interphalangeal joint of the 2nd toe, Hypospadias, Ventricular septal...	OMIM:300166
Peroxisome Biogenesis Disorder 2B	Elevated circulating long chain fatty acid concentration, Adrenal insufficiency	OMIM:202370
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Hypertension, Abnormality of the pancreas	ORPHA:1555
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Increased circulating IgG4 level, Eosinophilia, Orchitis, Elevated cir...	ORPHA:449563
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease...	OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase conc...	OMIM:615249
Immunodeficiency 58	Recurrent cutaneous abscess formation, Dysuria, Decreased circulating antibody level, Decreased s...	OMIM:618131
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism	OMIM:601794
Marshall-Smith Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Patent ductus...	OMIM:602535
7Q11.23 Microduplication Syndrome	Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Congenital diaphragmatic herni...	ORPHA:96121
Nasu-Hakola Disease	Hydrocephalus, Ventriculomegaly, Acute leukemia	ORPHA:2770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Facial par...	OMIM:259710
Trichothiodystrophy 1, Photosensitive	Flexion contracture, Decreased circulating IgG level, Hypogonadism, Telangiectasia	OMIM:601675
Gorlin Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism	ORPHA:377
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Hydrocephalus, Retinal telangiectasia	OMIM:620157
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Abnormal circulating enzyme concentration or activity, Glutaric acid...	ORPHA:25
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hydrocephalus,...	OMIM:616007
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentra...	OMIM:272200
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve ...	OMIM:611962
Cardiofaciocutaneous Syndrome 1	Splenomegaly, Hydrocephalus, Hyperhidrosis, Pulmonic stenosis, Atrial septal defect, Hypertrophic...	OMIM:115150
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Joubert Syndrome	Situs inversus totalis, Encephalocele, Abnormality of the hypothalamus-pituitary axis, Hydrocephalus	ORPHA:475
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Dextrocardia	ORPHA:220493
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology	OMIM:601499
Metatropic Dysplasia	Hydrocephalus, Camptodactyly of finger	ORPHA:2635
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hydrocephalus, Abnormality o...	ORPHA:538
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Hydrocephalus	ORPHA:2181
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Tricuspid regurgitation, Ure...	ORPHA:314585
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Vitamin K Antagonist Embryofetopathy	Macroglossia, Myelomeningocele, Hydrocephalus	ORPHA:1914
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism...	ORPHA:79500
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Decreased circulating antibody level, Anemia, Hypoalbuminemia, Vent...	ORPHA:79396
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Hyperactivity, Ventricular septal defect, Dextrocardia, Coronary artery fistul...	OMIM:614294
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Hydrocephalus, Hypospadias, Ventriculomegaly	OMIM:123790
Trichothiodystrophy	Ventriculomegaly, Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Increas...	ORPHA:33364
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus	OMIM:300558
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Hydrocephalus, Patent ductus arteriosus, Mitral valve prolapse, Ureteral triplicat...	OMIM:104350
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, ...	OMIM:312870
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia	OMIM:614219
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Hydrocephalus, Facial hypotonia, Ventriculomegaly	OMIM:616355
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte...	OMIM:270100
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Arachnoiditis	Anhidrosis, Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Nephritis, Dand...	OMIM:217090
Hajdu-Cheney Syndrome	Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal defect, Splenomegaly, Hydrocephalu...	ORPHA:955
Tetrasomy 9P	Myositis, Biliary atresia, Micropenis, Patent foramen ovale, Dandy-Walker malformation, Absent ga...	ORPHA:3310
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Hydrocephalus, Distal arthrogryposis, Ventriculomegaly	OMIM:619833
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hydrocephalus, Flexion contracture	OMIM:613330
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Apert Syndrome	Hypertension, Hydrocephalus, Ventriculomegaly, Ovarian neoplasm	ORPHA:87
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal a...	OMIM:617140
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Gracile Bone Dysplasia	Asplenia, Hydrocephalus, Hypoplastic spleen, Hypocalcemia, Micropenis	OMIM:602361
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Urinary incontinence, Congestive heart failure, Hydrocephalus, Pulmonary arterial ...	OMIM:616482
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Ventricular septal defect, Dandy-Walker malformation	OMIM:147800
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Encephalocele, Pancreatic f...	ORPHA:564
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Elevated circulating creatine kinase concentration, Hydrocephalus, Muscular dystrophy, Increased ...	OMIM:616538
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse, Decreased circulati...	ORPHA:96129
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, Hydrocephalus, Hematochezia, Renal tubular acidosis, Lateral ventricle...	OMIM:619575
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal ...	ORPHA:1340
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchidism,...	ORPHA:1272
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe ki...	OMIM:612284
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Buphthalmos, Developmental glaucoma, Ocular hypertension	OMIM:610199
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Pontocerebellar Hypoplasia, Type 7	Skeletal muscle atrophy, Cryptorchidism, Hydrocephalus, Micropenis, Ventriculomegaly	OMIM:614969
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteri...	OMIM:313850
Multiple Sulfatase Deficiency	Splenomegaly, Hydrocephalus, Mucopolysacchariduria, Hepatomegaly	ORPHA:585
Plague	Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesen...	ORPHA:707
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, Renovascular...	ORPHA:3472
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple...	OMIM:615468
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Skeletal muscle...	OMIM:613150
Primary Progressive Freezing Gait	Hypertension, Urinary incontinence	ORPHA:75567
Okur-Chung Neurodevelopmental Syndrome	Abnormal heart morphology, Decreased circulating IgG level, Decreased circulating IgA level, Decr...	OMIM:617062
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly	OMIM:304100
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Thrombocytopenia, Hy...	ORPHA:235
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Genera...	OMIM:139210
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Adrenal insufficiency, Hypohidrosis	OMIM:615510
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int...	ORPHA:394
Knobloch Syndrome	Occipital encephalocele, Dextrocardia, Hydrocephalus, Patent ductus arteriosus, Vesicoureteral re...	ORPHA:1571
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Cr...	OMIM:236670
Gapo Syndrome	Hepatomegaly, Prominent scalp veins, Facial palsy, Retinal arteriolar tortuosity, Hypoplastic nip...	OMIM:230740
Tetrasomy 5P	Congestive heart failure, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, He...	ORPHA:3309
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hydrocephalus, Abnormal renal morphology, Flexion contracture, Camptodactyly, Atrial septal defect	OMIM:207410
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Holoprosencephaly, Atrial septal def...	ORPHA:672
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Hypospadias, Camptodactyly of finger, Ureteral ob...	ORPHA:90652
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Ventricular septal defect, Premature thelarche, Au...	OMIM:147920
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy-Walker ma...	ORPHA:1647
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Hypospadias, Bicuspid aortic va...	OMIM:619475
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Flexion contracture, Holop...	OMIM:147791
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Coarct...	ORPHA:268249
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture, Abnormal heart morphology	ORPHA:1865
Apert Syndrome	Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hyperhidrosis, Hydron...	OMIM:101200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital e...	OMIM:615287
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Absent extraocular muscles, Ventriculomegaly	OMIM:109120
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness	OMIM:207950
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos...	ORPHA:1780
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Ventriculomegaly, Cerebral hemorrhage, Hyd...	ORPHA:666
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Spina bifida, Hydrocephalus, Hydranencephaly, Hydronephrosis	ORPHA:2839
Vascular Ehlers-Danlos Syndrome	Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Cryptorchidism, Varicose vein...	ORPHA:286
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Pulmonary artery ...	ORPHA:667
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Stromme Syndrome	Accessory spleen, Hydrocephalus, Bilateral renal hypoplasia, Myopathy, Hydronephrosis	OMIM:243605
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ...	OMIM:608091
Edinburgh Malformation Syndrome	Hydrocephalus	ORPHA:1895
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus	ORPHA:93262
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Hy...	OMIM:218040
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, Hypocholesterolemia, ...	OMIM:223370
Desmosterolosis	Ventriculomegaly, Hydrocephalus, Patent ductus arteriosus, Abnormal circulating cholesterol conce...	OMIM:602398
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Hypoplasia of the musculature, Hydrocephalus, Hydranencephaly, Joint contractur...	OMIM:225790
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu...	OMIM:617866
Cutis Laxa, Autosomal Recessive, Type Iib	Decreased muscle mass, Hydrocephalus, Prominent superficial veins	OMIM:612940
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,...	OMIM:615219
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Hydrocephalus, Abnormality of neutrophils, Abnormal renal tubule morphology	ORPHA:2720
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Atrial ...	OMIM:616546
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Unilateral renal age...	ORPHA:261337
Legius Syndrome	Acute monocytic leukemia, Paroxysmal atrial tachycardia, Nephrolithiasis, Ovarian neoplasm, Mitra...	ORPHA:137605
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Hydrocephalus...	ORPHA:536467
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Hypospadias, Camptodactyly of finger, Bicuspid aortic valve, Ectopi...	OMIM:607872
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Communicating hydrocephalus, Recurrent urinary tract infections, Pancytopen...	ORPHA:309282
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Flexion contracture, Hydrocephalus, Renal hypoplasia, Hypoplasia of the ovary, Azot...	OMIM:619321
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,...	ORPHA:3455
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Hypertension, Lateral ventricle dilatation, Atrial septal defect, Ureterop...	OMIM:300896
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia, Congenital hypothyroidism	OMIM:271510
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Intellectual Developmental Disorder, Autosomal Dominant 65	Facial hypotonia, Noncommunicating hydrocephalus	OMIM:619320
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Bone marrow hypocellularity, Micropen...	OMIM:614083
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Abnormality of the kidney, Congenital diaphragmatic her...	ORPHA:2369
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Opitz-Kaveggia Syndrome	Multiple joint contractures, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morpholog...	OMIM:305450
Hallermann-Streiff Syndrome	Spina bifida, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hypertension	OMIM:234100
Mend Syndrome	Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydrocephalus, Abnormal...	ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalu...	OMIM:614643
L1 Syndrome	Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus	ORPHA:275543
Raine Syndrome	Hydroureter, Hydrocephalus, Elevated circulating alkaline phosphatase concentration, Hypophosphat...	OMIM:259775
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Progressive ventriculomegaly, Transient ischemic attack, Bilateral renal dysp...	ORPHA:500150
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Endocardial fibroelastosis	OMIM:600559
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Microcytic anemia, Leukocytosis, ...	ORPHA:99843
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Congenital diaphragmatic hernia,...	ORPHA:2556
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy, Hydrocephalus, Patent duct...	OMIM:300373
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:261537
Townes-Brocks Syndrome 1	Atrial septal defect, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral va...	OMIM:107480
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias	OMIM:312190
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi...	OMIM:609192
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Congenital contracture, Hydrocephalus, Colpocephaly, Ventriculomegaly	OMIM:620156
Rhombencephalosynapsis	Hydrocephalus, Abnormal renal morphology, Ventriculomegaly	ORPHA:59315
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro...	OMIM:619895
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Fetal pyelectasis, Hydroce...	OMIM:619512
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Camptodactyly, Joint contracture of the han...	OMIM:182212
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Ab...	ORPHA:363700
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Hypohidrosis	ORPHA:1946
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus	ORPHA:2180
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:2152
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid...	OMIM:308205
Rabin-Pappas Syndrome	Hyponatremia, Hydrocephalus, Retinal telangiectasia	OMIM:620155
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:261552
Monosomy 9Q22.3	Ovarian fibroma, Rhabdomyosarcoma, Hydrocephalus, Cardiac fibroma, Nephroblastoma, Ventriculomegaly	ORPHA:77301
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Ocular hypertension	ORPHA:93315
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
Cerebral Visual Impairment	Intracranial hemorrhage, Hydrocephalus, Ischemic stroke	ORPHA:447788
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Ventriculomegaly, Hypocalcemia, Dandy-Walker malformation	OMIM:618476
Hajdu-Cheney Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ...	OMIM:102500
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydrocephalus	ORPHA:3301
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Peho Syndrome	Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture, Ventriculomegaly	ORPHA:2836
Fraser Syndrome 1	Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Hydroceph...	OMIM:219000
Teratoma, Pineal	Polyuria	OMIM:273120
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ventriculomegaly	OMIM:304340
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of the a...	ORPHA:2462
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Hypospadias, Facial palsy, Cryptorchidism, Patent foramen ovale, N...	OMIM:619325
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Asplenia, Cryptorchidism, Hydrocephalus, Horseshoe kidney, P...	ORPHA:221120
Mend Syndrome	Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Crossed fused renal ectopia, Dandy-Walker m...	OMIM:300960
Chromosome 17P13.1 Deletion Syndrome	Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi...	OMIM:613776
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Congenital diaphragmatic hernia, Unilateral renal agenesis, Aqueductal...	OMIM:154400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp...	OMIM:619841
Cousin Syndrome	Hydrocephalus, Camptodactyly, Hydranencephaly, Joint contracture of the hand, Wrist flexion contr...	OMIM:260660
Hydrolethalus	Cryptorchidism, Hydrocephalus, Anencephaly	ORPHA:2189
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Conotruncal defect	OMIM:243440
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy	ORPHA:294023
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Facial hypotonia, Unilateral renal agenesis, Hydrocephalus, Hypoplastic aortic arch, Ventriculome...	ORPHA:457284
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block, Hydrocephalus	OMIM:618590
Sponastrime Dysplasia	Hypospadias, Precocious puberty, Decreased circulating antibody level, Dilatation of the cerebral...	ORPHA:93357
Blau Syndrome	Pericarditis, Camptodactyly of finger, Tendonitis, Hypertension, Flexion contracture of toe	OMIM:186580
Iniencephaly	Encephalocele, Renal agenesis, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, H...	ORPHA:63259
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Hypertriglyceridemia, Hypospadias, Secundum atrial septal defect, Cryptorc...	OMIM:264090
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus, Joint contracture of the hand, Camptodactyly	OMIM:224400
Ciliary Dyskinesia, Primary, 1	Asplenia, Communicating hydrocephalus, Situs inversus totalis	OMIM:244400
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr...	ORPHA:3412
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundic...	ORPHA:168577
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased muscle mass, Hypospadias, Ventricular septal defect, Precocious puber...	OMIM:194190
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Hypospadias, Facial palsy, Cryptorchidism, Epispadias, Hydrocephalus, ...	ORPHA:2658
Cryptococcosis	Lymphoid leukemia, Mediastinal lymphadenopathy, Hydrocephalus, Peritonitis, Cirrhosis, Limb muscl...	ORPHA:1546
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hydrocephalus	OMIM:300863
Thanatophoric Dysplasia, Type I	Hydrocephalus	OMIM:187600
Familial Osteodysplasia, Anderson Type	Hypertension, Hyperuricemia	ORPHA:2769
Muenke Syndrome	Hydrocephalus	ORPHA:53271
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly	OMIM:613603
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Medulloblastoma	Elevated hepatic transaminase, Cerebellar hemorrhage, Hydrocephalus	ORPHA:616
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Unilateral renal agenesis	ORPHA:1064
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Cryptorchidism, Thrombocytopenia	ORPHA:1237
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Congenital fibrosis of extraocular muscles, Torticollis, Normal pressure hydrocephalus, Lateral v...	ORPHA:300570
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:610829
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Elevated alkaline phos...	ORPHA:289176
Cole-Carpenter Syndrome 2	Hydrocephalus	OMIM:616294
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus	ORPHA:163966
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carci...	OMIM:109400
Hypoplasminogenemia	Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Abnormality of the ovary, Dandy-W...	ORPHA:722
Dermatomyositis	Myocarditis, Pericarditis, Abnormal eosinophil morphology	ORPHA:221
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Keutel Syndrome	Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher...	OMIM:245150
Sturge-Weber Syndrome	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph...	ORPHA:3205
Achondroplasia	Hydrocephalus	ORPHA:15
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Epispadias, Vesicovagi...	OMIM:258040
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Crouzon Syndrome	Hydrocephalus, Dysgerminoma	OMIM:123500
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Campomelic Dysplasia	Hypospadias, Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydroc...	OMIM:114290
Large Congenital Melanocytic Nevus	Hydrocephalus, Rhabdomyosarcoma	ORPHA:626
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal...	OMIM:617667
Orofaciodigital Syndrome Type 4	Decreased testicular size, Monorchism, Renal agenesis, Camptodactyly of finger, Renal hypoplasia/...	ORPHA:2753
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Diastasis rec...	OMIM:261540
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Myopathy, Hypogona...	ORPHA:3042
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac...	OMIM:600145
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Histidinemia	Hyperactivity	ORPHA:2157
Microphthalmia With Limb Anomalies	Venous insufficiency, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Camptodactyly of 2nd-5th f...	ORPHA:1106
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Focal Dermal Hypoplasia	Ureteral duplication, Diastasis recti, Supernumerary nipple, Congenital diaphragmatic hernia, Cry...	OMIM:305600
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Ventricular septal defect, Ankle flexion contracture, Cryptorchidi...	OMIM:268300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentr...	OMIM:175780
Pfeiffer Syndrome	Hydrocephalus	OMIM:101600
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Hydrocephalus	ORPHA:93259
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo...	ORPHA:268810
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Hydrocephalus	ORPHA:220295
Achondroplasia	Hydrocephalus	OMIM:100800
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect,...	OMIM:164210
Laurin-Sandrow Syndrome	Cryptorchidism, Hydrocephalus	ORPHA:2378
Otopalatodigital Syndrome, Type Ii	Hypospadias, Elbow contracture, Spina bifida, Cryptorchidism, Hydrocephalus, Atrial septal defect...	OMIM:304120
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Cryptorchidis...	OMIM:208150
Baller-Gerold Syndrome	Abnormality of the kidney, Anomalous splenoportal venous system, Hydrocephalus, Abnormal heart mo...	OMIM:218600
Mohr Syndrome	Hydrocephalus	OMIM:252100
Cerebrooculonasal Syndrome	Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:605627
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Muscular dystrophy, Elevated circulating creatine kinase concentration, Ventriculo...	OMIM:253280
Full Nf2-Related Schwannomatosis	Facial palsy, Myelopathy, Hydrocephalus, Wrist drop, Foot dorsiflexor weakness	ORPHA:637
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Micropenis, Facial hypotonia, Ventriculomegaly	ORPHA:457359
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus	ORPHA:3016
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Ventriculomegaly	OMIM:617011

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 Vav2

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 Vav2.

No publications found that use IMPC mice or data for Vav2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Vav2^{em1(IMPC)Marc}	Deletion	Mice
Vav2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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