Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Cd36 MGI:107899

Gene Summary

Name:

CD36 molecule

Synonyms:

Scarb3, FAT, fatty acid translocase

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged heart	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal bone structure	Cd36^em1(IMPC)Mbp	HOM	Late adult	1.05×10^-10
abnormal brain morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased circulating triglyceride level	Cd36^em1(IMPC)Mbp	HOM	Late adult	1.05×10^-07
abnormal skin morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged liver	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
increased heart weight	Cd36^em1(IMPC)Mbp	HOM	Late adult	5.63×10^-06
abnormal liver morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased brain size	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased fasting circulating glucose level	Cd36^em1(IMPC)Mbp	HOM	Early adult	1.53×10^-07
abnormal heart morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased fasting circulating glucose level	Cd36^em1(IMPC)Mbp	HOM	Late adult	5.86×10^-15
eye hemorrhage	Cd36^em1(IMPC)Mbp	HOM	Late adult	2.16×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

Histopathology

Images

3 Images

View images

Human diseases caused by Cd36 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 Cd36 (1 diseases)
Human diseases predicted to be associated with Cd36 (1484 diseases)

The table below shows human diseases associated to Cd36 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Platelet Glycoprotein Iv Deficiency		Prolonged bleeding time, Thrombocytopenia, Giant platelets	OMIM:608404

The table below shows human diseases predicted to be associated to Cd36 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ...	OMIM:614372
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue...	ORPHA:71529
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol...	OMIM:610947
Glycogen Storage Disease Vi	Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Hyperlipidemia, Failure to thri...	OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Obesity, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction	OMIM:608320
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Steatorrhea, Elevated circulating hepatic transaminase concentration, Abnormal immunoglobulin lev...	OMIM:618752
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Lipodystrophy, Familial Partial, Type 5	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Hypertension, Increased C-peptide lev...	OMIM:615238
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections	OMIM:242870
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Increase...	OMIM:615703
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re...	OMIM:605258
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of gluteal subc...	ORPHA:435660
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon...	OMIM:620282
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Atrial sep...	OMIM:620211
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Chronic decreased circulating total IgG, Conjunctivitis, Recurrent sinusi...	OMIM:613493
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Recurrent sinopulmonary i...	OMIM:616740
Immunodeficiency 61	Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre...	OMIM:300310
Immunodeficiency 34	BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections	OMIM:300645
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction	OMIM:108725
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplen...	OMIM:608898
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,...	ORPHA:280356
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Constipation, D...	OMIM:301033
Pterygium, Antecubital	Limited elbow extension, Antecubital pterygium, Posterior subluxation of radial head	OMIM:178200
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig...	OMIM:608106
Immunodeficiency 66	Defective T cell proliferation, Sepsis, Meningitis	OMIM:618847
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Prolonged prothrombin time, Elevated circulating...	ORPHA:71212
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	OMIM:608600
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys...	ORPHA:79085
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia, Myopathy, Short stature	ORPHA:366
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ...	OMIM:619855
Immunodeficiency 35	Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ...	OMIM:611521
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Skeletal muscle ...	ORPHA:435651
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Sea-blue histiocytos...	OMIM:607616
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating lactate dehydrogenase concentration, Granuloma, Splen...	OMIM:619802
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Generalized lipodystrophy, Hypocalcemia, Short stature, Reduc...	OMIM:612526
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci...	OMIM:300635
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Immunodeficiency 47	Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Cholestasis, Prolonged...	OMIM:300972
Hypoalphalipoproteinemia, Primary, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction	OMIM:604091
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Diarrhea, Hyperlipidemia, Vomiting, Failure to thrive, Hypoalbuminemi...	OMIM:615863
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Radial Heads, Posterior Dislocation Of	Limited elbow extension, Antecubital pterygium, Posterior radial head dislocation	OMIM:179200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Splenomegaly, Proxima...	ORPHA:280365
Reticular Dysgenesis	Sepsis, Lack of T cell function, Impaired T cell function	OMIM:267500
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Chronic diarrhea, Complete or near-complete absence of...	OMIM:607271
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in...	OMIM:613495
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Vomi...	OMIM:614480
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni...	OMIM:612692
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal na...	OMIM:613101
Immunodeficiency 44	Abnormal circulating IgG level, Elevated circulating alanine aminotransferase concentration, Lymp...	OMIM:616636
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly	OMIM:619175
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Immunodeficiency 102	Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Decreased circulating to...	OMIM:301082
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Agammaglobulinemia 2, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat...	OMIM:613500
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Retinal detachment	ORPHA:436182
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi...	OMIM:615615
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Transient neutropenia, Decreased circulating...	OMIM:619707
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Achalas...	OMIM:618969
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Muscular dystrophy, Increased LDL cholesterol concentration, Elbow flexion ...	OMIM:616516
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Chronic diarrhea, Megaloblastic anemia, Increased circulating...	OMIM:620603
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Skeletal muscle hypertrophy, Hypertension, Lipodystrophy, Insu...	OMIM:613877
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Immunodeficiency 110 With Lymphoproliferation	Sepsis, Recurrent lower respiratory tract infections, Persistent EBV viremia, Chronic mucocutaneo...	OMIM:614868
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic hand muscl...	ORPHA:488650
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Hyperinsulinemia, Hepatomegaly, Precocious pubert...	ORPHA:528
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Ficolin 3 Deficiency	Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection...	OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification	Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:616126
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diarrhea, Hyp...	OMIM:605911
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Sepsis, Recurrent upper respiratory tract infections	OMIM:619599
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu...	OMIM:240500
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Generalized lipodystrophy, Hyperactivity, H...	ORPHA:363400
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Pituitary hypothyroidism, Polyphagia, Obesity, Decreased ...	ORPHA:66628
Bullous Impetigo	Sepsis, Recurrent bacterial skin infections	ORPHA:36237
Immunodeficiency 62	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:618459
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati...	OMIM:613502
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Mandibuloacral Dysplasia	Hypertriglyceridemia, Lipoatrophy, Postnatal growth retardation, Hyperinsulinemia, Reduced intrat...	ORPHA:2457
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency, Common Variable, 1	Hepatomegaly, Decreased proportion of class-switched memory B cells, Diarrhea, B lymphocytopenia,...	OMIM:607594
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Pituitary hypothyroidism, Polyphagia, Obesity, Decreased ...	ORPHA:179494
Immunodeficiency 10	Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Recurrent infections, Recurrent...	OMIM:612783
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6...	OMIM:620430
Sitosterolemia 2	Tendon xanthomatosis, Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Failure to thrive in infancy, Abnormally low ...	OMIM:618987
Lipase Deficiency, Combined	Hypertriglyceridemia, Type II diabetes mellitus, Lipodystrophy	OMIM:246650
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased circulating...	OMIM:278000
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Increased circulating IgG level, Chronic diarrhea, Increased circu...	ORPHA:98813
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Prolonged QT interval, Bradycardia, Centrally nucleated skeletal muscle fib...	OMIM:613327
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections	OMIM:616022
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Obesity, Increased serum lept...	OMIM:617885
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Recurrent infection of the gastrointestinal tract, Recurr...	OMIM:608184
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Increased circulating IgG level,...	ORPHA:276
Ethanolaminosis	Cardiomegaly	OMIM:227150
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Reticular Dysgenesis	Sepsis, Decreased circulating antibody level, Recurrent respiratory infections	ORPHA:33355
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Decreased circulating IgG level, ...	OMIM:619281
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Decrea...	ORPHA:275
Analbuminemia	Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens...	OMIM:616000
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Sepsis, Abnormal circulating interleukin concentr...	ORPHA:70578
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Hyperactivity	OMIM:615924
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level	OMIM:235550
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio...	OMIM:613501
Lymphoproliferative Syndrome 2	Sepsis, EBV encephalitis, Persistent EBV viremia, Recurrent infections, Decreased circulating ant...	OMIM:615122
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Dysgammaglobulinemia, Sepsis, Pneumocystis carinii pneumonia, Decreased...	OMIM:308230
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Hepatomegaly, Diarrhea, Esophageal varix, Splenomegaly, Adrenal calcificati...	ORPHA:75234
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Mody	Large for gestational age, Hepatocellular adenoma, Neonatal hypoglycemia, Abnormal circulating C-...	ORPHA:552
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Failure to thri...	OMIM:619868
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Neutropenia, Eleva...	ORPHA:158057
Hyperlipoproteinemia, Type Ii, And Deafness	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144300
Temple Syndrome	Hypertriglyceridemia, Maturity-onset diabetes of the young, Truncal obesity, High palate, Precoci...	OMIM:616222
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Failure to thrive, Exocrine...	OMIM:612714
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent viral infections, BCGitis, Recurrent mycobacterium avium c...	OMIM:614892
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia	OMIM:610021
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Decreased circ...	OMIM:615952
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium, Ankyloblepharon	OMIM:619339
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c...	OMIM:620210
Hypertriglyceridemia 1	Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration	OMIM:145750
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Splenom...	OMIM:603552
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Lo...	OMIM:151660
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Acute Lung Injury	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A...	ORPHA:178320
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Male hypogonadism, Hepatomegaly, Loss of subcutaneous adipose tissue in lim...	OMIM:615381
Immunodeficiency 116	Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory...	OMIM:608957
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra...	ORPHA:90065
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Growth delay, Splenomegaly, Hypoglycemia, Hype...	OMIM:306000
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, Chronic diarrhea, T lymphocytopenia, ...	OMIM:619510
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Neonatal hypoglycemia, ...	OMIM:619418
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Wolcott-Rallison Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Neutropenia, Iro...	ORPHA:1667
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ...	ORPHA:3002
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Reticuloc...	ORPHA:699
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections, Recurrent ur...	OMIM:209920
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Diarrhea, Optic neuritis, Neutropenia in presence of a...	ORPHA:436159
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated ...	ORPHA:158061
Immunoerythromyeloid Hypoplasia	Absent leukocyte alkaline phosphatase, Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia, Abnorma...	ORPHA:941
Alg1-Cdg	Sepsis, Recurrent infections, Cardiomyopathy, Nephrotic syndrome, Abnormal heart morphology, Rena...	ORPHA:79327
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98855
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator...	OMIM:193670
Morgagni-Stewart-Morel Syndrome	Abnormality of the endocrine system, Hyperuricemia, Hypertension, Hyperostosis frontalis interna,...	ORPHA:77296
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sepsis, Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level,...	OMIM:243700
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Anemia, Enlarged kidney, Abnormality of the lymphatic sys...	ORPHA:464329
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir...	ORPHA:540
Neonatal Alloimmune Neutropenia	Sepsis, Meningitis, Severe infection	ORPHA:464370
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Hepatomegaly, Maternal diabetes, Abn...	ORPHA:79083
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Maturity-onset diabetes of the young, High palate, Precocious puber...	ORPHA:254531
Galactokinase Deficiency	Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper...	ORPHA:79237
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Hepatomegaly, Abnormality of skeleta...	ORPHA:2348
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Coccidioidomycosis, Abnor...	ORPHA:319552
Smith-Magenis Syndrome	Hypertriglyceridemia, Hyperactivity, Head-banging, Increased body weight, Self hugging, Constipat...	OMIM:182290
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Type I di...	OMIM:557000
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest...	OMIM:603813
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Highly arched eyebrow, Anosmia, Synophrys, Ptosis, Thick eyebrow, Blepharophimosis	ORPHA:2057
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Hepatomegaly, Abs...	OMIM:615559
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypoglycemia, Hepatomegaly, Cardiomyopathy	OMIM:609016
Bartsocas-Papas Syndrome	Short nose, Popliteal pterygium, Sparse or absent eyelashes, Corneal opacity, Synostosis of joint...	ORPHA:1234
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Increased body weight, Cardiomyopa...	ORPHA:264580
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Diarrhea, B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG leve...	OMIM:614069
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Hyperinsulinemia, Hepatomegaly, P...	ORPHA:79086
Immunodeficiency 33	Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni...	OMIM:300636
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98853
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo...	ORPHA:26793
Immunodeficiency 8 With Lymphoproliferation	Gastroesophageal reflux, Complete or near-complete absence of specific antibody response to tetan...	OMIM:615401
Immunodeficiency 52	Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod...	OMIM:617514
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Decreased lec...	OMIM:245900
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower...	ORPHA:98863
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform...	OMIM:619313
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Prolonged prothrombin time, Jaundice, Elevated circulating hepatic transami...	OMIM:603553
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Chronic diarrhea, Increased circulating IgE level, Colonic eosin...	OMIM:617638
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Osteopenia, Hepatomegaly, Hepatocellular carcinoma, Hyperlipidemia, Hypertrophic...	ORPHA:369
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Impaired glucose tolerance, Hyperinsulinemia, Loss of subcutaneous adipose tissue...	OMIM:248370
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Ketotic hypoglycemia, Increased body weight, Limb-g...	ORPHA:79240
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	OMIM:615558
Galactose Mutarotase Deficiency	Sepsis	ORPHA:570422
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Decreased circulating antibody level	ORPHA:2572
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Chronic diarrhea, Decreased specific antib...	OMIM:617765
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Agammaglobulinemia, X-Linked	Sepsis, Recurrent otitis media, Pyoderma, Decreased circulating IgE, Recurrent lower respiratory ...	OMIM:300755
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Sepsis, Recurrent lower respiratory tract infections, Decreased circulating antibody level, Decre...	OMIM:616100
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Maturity-onset diabetes of the young, Truncal obesity, High palate,...	ORPHA:96184
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Autoinflammatory Disease, Systemic, X-Linked	Optic neuritis, B lymphocytopenia, Chorioretinitis, Decreased circulating antibody level, Complet...	OMIM:301081
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepato...	ORPHA:247585
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Elevated circu...	ORPHA:79301
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,...	OMIM:614700
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Muscular dystrophy, Hypertension, Hyperlipidemia, Eleva...	OMIM:615980
Otoonychoperoneal Syndrome	Popliteal pterygium, Upslanted palpebral fissure, Knee flexion contracture	ORPHA:2793
Complement Factor B Deficiency	Recurrent meningococcal disease, Peritonitis, Pneumonia, Meningitis, Recurrent bacterial infections	OMIM:615561
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anem...	OMIM:617591
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di...	OMIM:619705
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Decreased circulating total IgM, Anemia, Hypocalcemia, Decreased proportion ...	ORPHA:90362
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ...	OMIM:618986
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons...	ORPHA:183675
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Distal lower limb muscle weakness, Distal amyotrophy, Hypercholesterolemia	ORPHA:94124
Heme Oxygenase 1 Deficiency	Sepsis, Hematuria, Increased circulating interleukin 6 concentration, Nephritis, Proteinuria	OMIM:614034
Pancreatic Colipase Deficiency	Steatorrhea, Cholelithiasis, Chronic diarrhea, Megaloblastic anemia, Exocrine pancreatic insuffic...	ORPHA:309108
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Long nasal bridge, Elbow flexion contr...	OMIM:178110
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent bacterial infections, Re...	OMIM:613779
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dystrophy, Reti...	OMIM:617052
Spondylospinal Thoracic Dysostosis	Multiple pterygia	OMIM:601809
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hypertension, Cor...	OMIM:615812
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Autosomal Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Meningitis	ORPHA:33110
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Diarrhea, Vomiting, Failure to thrive, Increased circulating free fatty...	OMIM:610768
Immunodeficiency 22	Anemia, Decreased circulating IgE, Diarrhea, Retinal vasculitis, Decreased circulating IgG level,...	OMIM:615758
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Jaundice, Increased circulating chylomicron concentration...	ORPHA:444490
Seckel Syndrome 10	Hypertriglyceridemia, Retinal detachment, Acute pancreatitis, Impaired glucose tolerance, Elevate...	OMIM:617253
Autosomal Recessive Omodysplasia	Short nose, Pterygium, Anteverted nares, Craniosynostosis, Elbow dislocation, Depressed nasal bridge	ORPHA:93329
Abdominal Obesity-Metabolic Syndrome 4	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:618620
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Neutropenia, Hemophagocytosis, Elevated circ...	OMIM:308240
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgG level, Increased circulating IgE level, Increased B cell count, Hepatos...	OMIM:618982
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Selective Igm Deficiency	Recurrent vulvovaginal candidiasis, Onychomycosis, Decreased specific antibody response to vaccin...	ORPHA:331235
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,...	OMIM:275350
T-Cell Immunodeficiency With Thymic Aplasia	Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i...	ORPHA:83471
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Decreased circulating antibody level, Recurrent fungal infections, Re...	OMIM:616873
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute myeloid...	OMIM:260400
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Secondary Short Bowel Syndrome	Steatorrhea, Aganglionic megacolon, Primary hypothyroidism, Diarrhea, Small intestinal dysmotilit...	ORPHA:95427
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concen...	OMIM:616828
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Antecubital pterygium, Tarsal synostosis, Fused cervical vertebrae, Fused thoracic vertebrae	OMIM:618469
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Bradycardia, Abnormal circulating thyroglobulin conc...	ORPHA:90674
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating ...	ORPHA:470
C1Q Deficiency 2	Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Recurrent lower respiratory tract...	OMIM:620321
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He...	OMIM:619013
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Anosmia, Synophrys, Ptosis, Thick eyebrow, Wide nasal bridge, Blepharophimosis	OMIM:210745
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent candida infections, Neonatal sepsis, Increased circulating antibody level, Recurrent lo...	ORPHA:169154
Glycogen Storage Disease Iii	Hepatomegaly, Distal amyotrophy, Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevate...	OMIM:232400
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Immunodeficiency By Defective Expression Of Mhc Class Ii	Acute otitis media, Recurrent candida infections, Recurrent Staphylococcus aureus infections, Scl...	ORPHA:572
Laron Syndrome	Delayed puberty, Truncal obesity, Abnormality of the endocrine system, Severe short stature, Hypo...	ORPHA:633
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac...	OMIM:601495
Citrullinemia, Type Ii, Neonatal-Onset	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Portal fibrosis, Hypertyrosinemia,...	OMIM:605814
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri...	OMIM:307200
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time, Normocytic anemia, Steatorrhea, Hepatomegaly, Hyperechogenic pancreas...	OMIM:617941
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul...	OMIM:603471
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level	OMIM:300861
Immunodeficiency 27A	Anorexia, Anemia, Increased circulating IgG level, Diarrhea, Leukocytosis, Increased circulating ...	OMIM:209950
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Short stature, Renovascular hypertension, Type II diabetes mellitus, Bicusp...	ORPHA:401923
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections	OMIM:607624
Bruck Syndrome 1	Ankle flexion contracture, Pterygium, Elbow flexion contracture, Protrusio acetabuli, Hip contrac...	OMIM:259450
Bruck Syndrome 2	Wormian bones, Elbow flexion contracture, Knee flexion contracture, Pterygium	OMIM:609220
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia	OMIM:607250
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Immunodeficiency 9	Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stomatitis, Chronic diarrhea, ...	OMIM:612782
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc...	OMIM:618534
Sneddon Syndrome	Decreased circulating total IgM, Facial palsy, Lymphopenia	OMIM:182410
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti...	OMIM:611926
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Lichen Planopilaris	Hepatitis, Pterygium	ORPHA:525
Autosomal Recessive Multiple Pterygium Syndrome	Popliteal pterygium, Axillary pterygium, Multiple pterygia, Telecanthus, Pterygium, Abnormal eyel...	ORPHA:2990
Netherton Syndrome	Sepsis, Increased circulating IgE level, Decreased circulating IgG level, Recurrent infection of ...	OMIM:256500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Anemia, Accessory spleen, Portal hyperte...	OMIM:620005
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel...	OMIM:615513
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Diarrhea, Accumulation of lipid droplets in small-bowel enteroc...	OMIM:246700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ...	OMIM:102700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Prolonged prothrombin time, Decreased HDL cholesterol concentration, Jaundi...	OMIM:267700
Methanol Poisoning	Diarrhea, Hypertension, Hyperlipidemia, Permanent atrial fibrillation, Vomiting, Inflammatory art...	ORPHA:31825
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Recurrent viral infections, Convex nasal ridge, Bulbous nos...	ORPHA:169079
Hepatic Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Angina pectoris	OMIM:614025
Specific Granule Deficiency 2	Sepsis, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media	OMIM:617475
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Immunodeficiency 27B	Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurrent mycobacteri...	OMIM:615978
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Chronic diarrhea, ...	OMIM:614699
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep...	ORPHA:2088
Cog4-Cdg	Intermittent diarrhea, Limb hypertonia, Growth delay, Recurrent infection of the gastrointestinal...	ORPHA:263501
Phaver Syndrome	Pterygium, Camptodactyly of finger, Downslanted palpebral fissures, Epicanthus, Radioulnar synost...	ORPHA:2876
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sepsis, Meningitis, Recurrent respiratory infections	ORPHA:229717
Scedosporiosis	Unusual skin infection, Sepsis, Invasive fungal infection, Severe infection, Pericarditis, Unusua...	ORPHA:449280
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Multiple pterygia, Epicanthus, Pterygium	OMIM:177980
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Steatorrhea, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Prim...	OMIM:269200
Multiple Pterygium Syndrome, Escobar Variant	Bilateral ptosis, Axillary pterygium, Popliteal pterygium, Fused cervical vertebrae, Pterygium, D...	OMIM:265000
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Hyperinsulinemia, Hepatomegaly, Generalized muscular appearance from birth,...	OMIM:608594
Immunodeficiency 115 With Autoinflammation	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Par...	OMIM:620632
Familial Pancreatic Carcinoma	Anorexia, Intermittent diarrhea, Jaundice, Elevated circulating hepatic transaminase concentratio...	ORPHA:1333
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Cirrhosis, Decreased circulating total IgM, Decreased circulating IgG1 le...	ORPHA:90363
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Osteoly...	ORPHA:464321
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Cutaneous abscess, Decreased circulating IgG level, Lymphopenia,...	OMIM:619752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Increased circulating antibody level, Failure to thrive secondary to recurrent infectio...	ORPHA:169160
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Hyperinsulinemia, Ventricular septal hypertrophy, Hepatomegaly, Generalized...	OMIM:269700
Ulnar Hemimelia	Limited elbow extension, Limited elbow movement, Dislocated radial head, Metacarpal synostosis, E...	ORPHA:93320
Multiple Pterygium Syndrome, X-Linked	Multiple pterygia, Joint dislocation, Depressed nasal ridge, Epicanthus, Vertebral fusion	OMIM:312150
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, High palate, Growth delay, Overfriendliness, Aggressive behavior	OMIM:618010
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis, Hepatic failure	OMIM:177000
X-Linked Agammaglobulinemia	Sepsis, Recurrent pneumonia, Recurrent cutaneous abscess formation, Agammaglobulinemia, Meningitis	ORPHA:47
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Epiphyseal stippling, Elevated circulating aspartate aminotransferase con...	OMIM:614876
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell	ORPHA:1135
Pancreatic Agenesis 2	Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Diabet...	OMIM:615935
Immunodeficiency 15B	Chronic diarrhea, Decreased circulating antibody level, Failure to thrive, Agammaglobulinemia, Mo...	OMIM:615592
Infantile Sialic Acid Storage Disease	Osteopenia, Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly...	OMIM:269920
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Reduced bone mineral density, Abn...	ORPHA:1414
Tyrosinemia Type 1	Hepatomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Acute hepatic failure, Spleno...	ORPHA:882
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Retinal detachment, Decreased circulating IgG level, Failure to thrive, Decreased c...	OMIM:607143
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE...	OMIM:615767
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Dysbetalipoproteinemia	Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Tendon ...	ORPHA:412
Bruck Syndrome	Wormian bones, Pterygium	ORPHA:2771
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Jaundice, Increased circulating interleukin 6 ...	OMIM:620376
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Werner Syndrome	Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog...	OMIM:277700
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Anosmia, Cataract, Depressed nasal bridge	OMIM:302950
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Obesity, Lipodystrophy, Hypoalbuminemia, Inc...	ORPHA:86816
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Chronic diarrhea, ...	ORPHA:35078
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly,...	ORPHA:99827
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Gastrointestinal hemorrhage, Hepat...	OMIM:603909
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Sepsis	ORPHA:204
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Enterocolitis, Decreased circulating total...	OMIM:614878
Multiple Pterygium Syndrome, Lethal Type	Multiple pterygia, Joint dislocation, Depressed nasal ridge, Epicanthus, Vertebral fusion	OMIM:253290
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Subcutaneous hemorrhage, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte...	ORPHA:2688
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abnormal heart morphology, Sepsis, Hydronephrosis, Hydroureter	OMIM:619362
Smith-Magenis Syndrome	Hypertriglyceridemia, Delayed puberty, Gastroesophageal reflux, Precocious puberty, Hypothyroidis...	ORPHA:819
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Decreased sensory nerve conduction velocity, Hyperechogenic...	ORPHA:456312
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Pterygium, Depressed nasal bridge, Absent palmar crease	ORPHA:994
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Sepsis	OMIM:619059
Combined Immunodeficiency Due To Crac Channel Dysfunction	Sepsis, Meningitis, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fun...	ORPHA:169090
Desmoid Tumor	Sepsis, Hydronephrosis	ORPHA:873
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Episodic vomiting	OMIM:618973
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Familial Atrial Myxoma	Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,...	ORPHA:615
Immunodeficiency, Common Variable, 6	Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre...	OMIM:613496
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated...	OMIM:615158
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Enlarged kidney, Sepsis, Focal segmental glomerulosclerosis, Recurrent bron...	OMIM:617303
8Q21.11 Microdeletion Syndrome	Wide nose, Corneal opacity, Eczematoid dermatitis, Ptosis, Downslanted palpebral fissures, Iris h...	ORPHA:284160
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part...	OMIM:618261
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemo...	ORPHA:158048
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Delayed puberty, Hepatocellular adenoma, Hype...	ORPHA:79259
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris	ORPHA:140905
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Hepatomegaly, Hyperinsulinemic hypoglycemia, Protein-losing enteropathy, Diarrhea, V...	OMIM:602579
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum...	OMIM:619774
Mogs-Cdg	Optic atrophy, Hepatomegaly, Decreased circulating antibody level, Absent brainstem auditory resp...	ORPHA:79330
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Increased hepatitis B virus antibody level, Elevated circulating alanine aminotransfer...	ORPHA:90003
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media	OMIM:300455
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine lev...	OMIM:212140
Cystinosis, Nephropathic	Polydipsia, Primary hypothyroidism, Retinopathy, Hypophosphatemia, Splenomegaly, Dysphagia, Reduc...	OMIM:219800
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Downslanted palpebral fissures, Patellar hypoplasia, Depressed nasal bridge	OMIM:119800
Felty Syndrome	Sepsis, Recurrent pharyngitis, Recurrent infections, Recurrent urinary tract infections, Bone mar...	ORPHA:47612
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Failure to thrive, Exocrine pancr...	OMIM:616263
Lassa Fever	Oliguria, Increased circulating IgM level, Sepsis	ORPHA:99824
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Decreased circulating IgG level, Central a...	OMIM:615577
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg...	ORPHA:860
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Abnormal circulating lipid concentration, Growth delay, Peritonitis, Hypoal...	ORPHA:567548
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Decreased circulating antibody level, Fa...	ORPHA:100
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Abnormality of the orbital region, Pterygium, Arthritis, Arthropathy, Scleroti...	ORPHA:371428
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Hypertension, Impaired glucose tolerance, Dysphagia, Type I diabetes mellit...	OMIM:606721
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Anteverted nares, Antecubital pterygium, Epicanthus	ORPHA:40366
Johanson-Blizzard Syndrome	Anemia, Hypoproteinemia, Failure to thrive, Exocrine pancreatic insufficiency, Diabetes mellitus,...	ORPHA:2315
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyper...	OMIM:214900
Anosmia For Butyl Mercaptan	Anosmia	OMIM:270350
Anosmia For Isobutyric Acid	Partial anosmia	OMIM:207000
Anosmia, Isolated Congenital, X-Linked	Anosmia	OMIM:301700
Anosmia, Isolated Congenital	Anosmia	OMIM:107200
Isovaleric Acid, Inability To Smell	Anosmia	OMIM:243450
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Chorior...	OMIM:118450
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Hypocalcemic seizures, Hepatomegaly, Optic nerve compression, Anemia, Decreased ci...	OMIM:612301
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Hyperinsulinemic hypoglycemia, Protein-losing enteropa...	ORPHA:79319
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Hepatomegaly, Increased serum bile acid concentration, Cho...	OMIM:618268
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of end...	ORPHA:93111
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
3-Methylglutaconic Aciduria Type 1	Hypoglycemia, Hepatomegaly	ORPHA:67046
Congenital Short Bowel Syndrome	Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, Congenital shortened sm...	OMIM:615237
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin...	OMIM:613313
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, Gast...	ORPHA:221139
Prader-Willi Syndrome	Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Intrauterine grow...	OMIM:176270
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Gastroesophageal reflux, Panhypogammaglobulinemia, Pancytopenia, Failure to thrive,...	ORPHA:251009
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Elevated circulatin...	OMIM:619048
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
H Syndrome	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Abnormal cardiovascular system physiology...	ORPHA:168569
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Bifid nose, Anosmia	OMIM:614838
Dyskeratosis Congenita, Autosomal Recessive 1	Pterygium, Sparse eyelashes, Bone marrow hypocellularity, Palmoplantar hyperkeratosis, Nasolacrim...	OMIM:224230
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cataract, Wide nasal bridge, Pterygium	OMIM:224410
Musk, Inability To Smell	Anosmia	OMIM:254150
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Increased circulating IgG level, Neutropen...	OMIM:619220
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Legionnaires Disease	Myocarditis, Sepsis, Hematuria, Recurrent pharyngitis, Bone marrow hypocellularity, Pericarditis,...	ORPHA:549
Reni Syndrome	Hypertriglyceridemia, Hypothyroidism, Lymphopenia, Hypoalbuminemia, Hypoglycemia, Adrenal insuffi...	OMIM:617575
Bloom Syndrome	Decreased circulating total IgM, Acute myeloid leukemia, Gastroesophageal reflux, Decreased propo...	ORPHA:125
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Posttransplant Acute Limbic Encephalitis	Sepsis	ORPHA:163921
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Anemia, Increased circulating antibody level, Chronic diarrhea, Failure to thrive, ...	OMIM:615285
Immunodeficiency 59 And Hypoglycemia	Sepsis, Recurrent lower respiratory tract infections, Herpes simplex encephalitis, Complete or ne...	OMIM:233600
Intellectual Developmental Disorder, Autosomal Dominant 73	Bilateral single transverse palmar creases, Long nose, Highly arched eyebrow, Axillary pterygium,...	OMIM:620450
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia	OMIM:613724
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Increased circulating antibody level, Fasting hypoglycemia, Nonket...	ORPHA:411593
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Steatorrhea, Elevated circulating hepatic transaminase concentration,...	OMIM:212750
Hirschsprung Disease	Sepsis	ORPHA:388
Bartsocas-Papas Syndrome 1	Short nose, Ectropion, Axillary pterygium, Popliteal pterygium, Pterygium, Corneal ulceration, Ab...	OMIM:263650
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,...	ORPHA:276580
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	BCGitis, Sepsis, Panhypogammaglobulinemia, Increased circulating IgE level, Recurrent upper respi...	OMIM:602450
Rauch-Steindl Syndrome	Hepatomegaly, Hyperactivity, Failure to thrive, Exocrine pancreatic insufficiency, Motor stereoty...	OMIM:619695
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Recurrent bacterial infections	OMIM:612840
Complement Factor I Deficiency	Recurrent otitis media, Recurrent meningococcal disease, Recurrent urinary tract infections, Recu...	OMIM:610984
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Jaundice, Hepatomegaly, Cholestasis, Splenomegaly	ORPHA:172
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy...	OMIM:115197
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level, Cholestasis, Failur...	ORPHA:1296
Activated Pi3K-Delta Syndrome	Hepatomegaly, B lymphocytopenia, Decreased circulating antibody level, Failure to thrive, Increas...	ORPHA:397596
Xp21 Deletion Syndrome	Hypertriglyceridemia, Reduced bone mineral density, Calf muscle hypertrophy, Elevated circulating...	ORPHA:261476
Specific Granule Deficiency 1	Recurrent otitis media, Recurrent pneumonia, Impaired neutrophil bactericidal activity, Impaired ...	OMIM:245480
Pgm3-Cdg	Sepsis, Increased circulating IgG level, Recurrent infections, Increased circulating IgE level, I...	ORPHA:443811
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Abnor...	OMIM:619573
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, B lymphoc...	OMIM:618048
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Hypocalcemia, Splenomegaly	ORPHA:100025
Leishmaniasis	Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Increase...	ORPHA:507
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ...	OMIM:609812
Nephrotic Syndrome, Type 11	High palate, Cleft palate, Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hy...	OMIM:616730
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Protein-los...	OMIM:618183
Dyskeratosis Congenita, Digenic	Anemia, Gastroesophageal reflux, Decreased circulating IgG level, Failure to thrive, Dysphagia, D...	OMIM:620040
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Cirrhosis, Jaundice, Prolonged QT i...	ORPHA:57777
Glycerol Kinase Deficiency	Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia, Episodic vomiting, Osteoporosis, Vom...	OMIM:307030
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly	ORPHA:2398
Lysosomal Acid Lipase Deficiency	Decreased liver function, Xanthelasma, Hypertriglyceridemia, Steatorrhea, Elevated circulating he...	ORPHA:275761
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Elevated circ...	ORPHA:2070
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Osteoporosis, Splenomegaly, Abnormal B cell count, Osteolysis	ORPHA:100024
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Gaisböck Syndrome	Hypertriglyceridemia, Peptic ulcer, Elevated diastolic blood pressure, Hyperuricemia, Angina pect...	ORPHA:90041
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat...	OMIM:615468
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Generalized limb muscle atrophy, Hepatomegaly, Pe...	ORPHA:98908
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Purpura, Pulmonary embolism	OMIM:612304
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Short stature, Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Immunodeficiency 92	Hepatomegaly, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased propo...	OMIM:619652
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Telecanthus, Anosmia, Synophrys	ORPHA:1295
Peroxisome Biogenesis Disorder 9B	Cataract, Anosmia, Total anosmia	OMIM:614879
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Recurrent bronchitis, Anosmia, Nasal polyposis, Chronic rhinitis, Bronchiec...	OMIM:244400
Nail-Patella Syndrome	Limited elbow extension, Osteochondritis dissecans, Cubitus valgus, Patellar hypoplasia, Knee fle...	ORPHA:2614
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Dietary Iron Overload Disease	Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H...	ORPHA:139507
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypocystinemia, Decreased circulating antibody level, Decreased serum creatinine, Failure to thri...	OMIM:617744
Alg12-Cdg	Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Partial abse...	ORPHA:79324
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic insufficiency, Pancreatic c...	OMIM:167800
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Recurrent infections, 3-Methylglutaconic aciduria, Neonatal sepsis	OMIM:614739
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, T lymphocytopenia, Splenomegaly, Decreased circulating total IgA, Reduced natura...	OMIM:619381
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233710
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca...	OMIM:608612
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:203800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Meg...	OMIM:617780
Proprotein Convertase 1/3 Deficiency	Diarrhea, Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circ...	OMIM:600955
Galactosemia Iv	Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Myotonic Dystrophy 2	Insulin insensitivity, Elevated circulating creatine kinase concentration, Decreased circulating ...	OMIM:602668
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypo...	ORPHA:276575
Bloom Syndrome	Decreased circulating IgG level, Type II diabetes mellitus, Elevated hemoglobin A1c, Decreased ci...	OMIM:210900
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Hypoproteinemia, Chorioretinal coloboma, Lymphopenia	ORPHA:1116
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis	OMIM:619693
Neuraminidase Deficiency	Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath...	OMIM:256550
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Hepatomegaly, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Decreased circulating antibody level, P...	OMIM:618108
Deeah Syndrome	Neonatal hypoglycemia, Hepatomegaly, Decreased response to growth hormone stimulation test, Chron...	OMIM:619004
Meckel Syndrome 12	Anteverted nares, Antecubital pterygium, Wide nasal bridge	OMIM:616258
Lamellar Ichthyosis	Sepsis, Renal insufficiency, Recurrent respiratory infections	ORPHA:313
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Calciphylaxis	Stage 5 chronic kidney disease, Sepsis	ORPHA:280062
Galloway-Mowat Syndrome 7	High palate, Short stature, Cleft palate, Dilated cardiomyopathy, Ventricular septal defect, Hype...	OMIM:618348
Nail-Patella Syndrome	Microphakia, Limited elbow extension, Patellar hypoplasia, Keratoconus, Microcornea, Ptosis, Ante...	OMIM:161200
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentr...	OMIM:610717
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance,...	OMIM:606069
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem...	ORPHA:276556
Developmental And Epileptic Encephalopathy 111	Sepsis, Nephrolithiasis, Recurrent respiratory infections, Biventricular hypertrophy, Hypoplastic...	OMIM:620504
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Combined Immunodeficiency Due To Zap70 Deficiency	Chronic oral candidiasis, Recurrent opportunistic infections, Stomatitis, Skin rash, Chronic muco...	ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Diarrhea, B lympho...	OMIM:601457
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Omodysplasia 1	Limited elbow extension, Short nose, Axillary pterygium, Limited knee flexion/extension, Poplitea...	OMIM:258315
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Hamamy Syndrome	Telecanthus, Blepharophimosis, Anteverted nares, Neck pterygia, Sparse eyelashes, Sparse lateral ...	OMIM:611174
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ...	OMIM:615214
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Chronic diarrhea, Increased fecal bile acid, Growth delay, Failure to thrive, Fat ma...	OMIM:613291
Silver-Russell Syndrome 3	Antecubital pterygium	OMIM:616489
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Atrial septal defect, Enlarged kidney, Sepsis, Patent foramen ovale, Hypertrophic cardiomyopathy,...	ORPHA:505248
Immunodeficiency 68	Sepsis, Recurrent meningitis	OMIM:612260
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Abnormality of exocrine pancreas physiology	OMIM:613021
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Ectropion, Axillary pterygium	OMIM:226730
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Abnormality of exocrine pancreas physiology	OMIM:211400
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Hyperammonemia, Knee flexion contracture, Hypogly...	OMIM:620454
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis	ORPHA:231154
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, B lymphocytop...	OMIM:606367
Trimethylaminuria	Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Atypical Werner Syndrome	Hypertriglyceridemia, Delayed puberty, Lipoatrophy, Reduced bone mineral density, Calf muscle hyp...	ORPHA:79474
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Griscelli Syndrome Type 1	Retinopathy, Iris hypopigmentation, Hyperlipidemia	ORPHA:79476
Wiskott-Aldrich Syndrome	Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Lympho...	OMIM:301000
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:233690
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Sepsis, Recurrent otitis media, Recurrent pharyngitis, Recurrent bronchitis, Decreased circulatin...	ORPHA:293978
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Cirrhosis, Glycosuria, Failure to thrive, Exocrine pancreatic insufficiency, Elevated hemoglobin ...	OMIM:616539
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Distal amyotrophy, Hypercholesterolemia, Elevated circulating creatine kinase co...	OMIM:208920
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react...	OMIM:613011
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:612702
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypoparathyroidism, Gastroesophageal reflux, Obesity, Hypercalcemia, Low al...	ORPHA:369837
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Impair...	OMIM:256040
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Ketotic hypoglycemia, Hyperlipidemia, Short stature, G...	ORPHA:2089
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Elevated circulating hepatic transaminase concentration, Bradycardia, Fulmi...	ORPHA:319213
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:610628
Congenital Enterovirus Infection	Myocarditis, Sepsis, Cardiomyopathy, Pericardial effusion, Meningitis, Infectious encephalitis	ORPHA:292
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating IgG level, Decreased circ...	OMIM:241600
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Atrial septal defect, Sepsis, Renal tubular dysfunction	OMIM:614886
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular...	ORPHA:3092
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Bruising susceptibility	ORPHA:721
Low Phospholipid-Associated Cholelithiasis	Hypertension, Hepatocellular carcinoma, Obesity, Overweight, Neoplasm of the liver, Diabetes mell...	ORPHA:69663
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Hepatocellular ...	OMIM:619463
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe...	OMIM:300853
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly	OMIM:252920
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio...	OMIM:619632
Aapoaiv Amyloidosis	Atrial flutter, Abnormality of the gastrointestinal tract, Left bundle branch block, Cardiac amyl...	ORPHA:439232
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase ...	OMIM:212065
Xq28 (MECP2) duplication	Gastroesophageal reflux, Constipation, Failure to thrive, Dysphagia, Motor stereotypy, Decreased ...	DECIPHER:45
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Diarrhea, Failure to ...	OMIM:618495
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Hepatomegaly, Protein-losing enteropathy, Diarrhea, Cam...	OMIM:608104
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Ventricular hypertrophy, Hypertensio...	ORPHA:363618
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	OMIM:255120
Propionic Acidemia	Hypoglycemia, Hepatomegaly, Cardiomyopathy, Arrhythmia	ORPHA:35
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Developmental cataract, Wide nasal bridge, Pterygium	ORPHA:1865
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dila...	OMIM:602390
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pulmonary ar...	OMIM:619064
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614576
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Decreased circulating antibody ...	ORPHA:381
Neuhauser Syndrome	Osteopenia, Primary hypothyroidism, High palate, Short stature, Bifid uvula, Dysphagia, Hyperchol...	OMIM:249310
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Acute hepatic steat...	ORPHA:209902
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Hyperli...	ORPHA:189427
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De...	OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Iris coloboma, Anosmia, Choanal atresia	OMIM:147950
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Sepsis	ORPHA:544503
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Abnormal ci...	ORPHA:2298
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Persistent CMV viremia, Persistent EBV viremia, Dec...	OMIM:616005
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Pancreatitis, Hepatomegaly, Hypertension, Insulin resistance, Diabetes mellitus...	ORPHA:79084
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hepatomegaly, Gastrointestina...	ORPHA:186
Whim Syndrome	Sepsis, Decreased circulating antibody level, Recurrent pneumonia, Tetralogy of Fallot, Recurrent...	ORPHA:51636
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Joint dislocation, Abnormality of the sense of smell	ORPHA:3201
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Incr...	ORPHA:508533
Classic Galactosemia	Sepsis	ORPHA:79239
Zika Virus Disease	Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Vomiting, Increased...	ORPHA:448237
Glycogen Storage Disease Ia	Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Intermittent diarrhea, Fasting hypog...	OMIM:232200
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Ebola Hemorrhagic Fever	Sepsis, Increased circulating antibody level	ORPHA:319218
Xeroderma Pigmentosum	Ectropion, Entropion, Pterygium, Flat nasal alae, Conjunctival telangiectasia, Blepharitis, Kerat...	ORPHA:910
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hepatomegaly, Restrictive cardiomyopathy, Ascites, Tricuspid regurgitati...	OMIM:619433
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Steatorrhea, Pancreatitis, Diarrhea, Meconium ileus, Biliary cirrhosis, ...	OMIM:219700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Diarrhea, Cachexia, Elevated circulating creatine kinase concentration, Vomiting, H...	ORPHA:42
Pyomyositis	Recurrent infections, Recurrent cutaneous abscess formation, Sepsis, Renal insufficiency	ORPHA:764
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Johnson Neuroectodermal Syndrome	Absent eyelashes, Anosmia, Choanal atresia, Absent eyebrow, Downslanted palpebral fissures, Bulbo...	ORPHA:2316
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, T...	OMIM:253250
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular eje...	OMIM:614096
Megalocornea-Intellectual Disability Syndrome	Osteopenia, High palate, Hypothyroidism, Short stature, Motor stereotypy, Hypercholesterolemia	ORPHA:2479
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616910
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Recurrent bacterial infections	OMIM:202700
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Genu valgum, Anosmia	OMIM:614880
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Pancreatic Triacylglycerol Lipase Deficiency	Steatorrhea, Iron deficiency anemia, Diarrhea, Exocrine pancreatic insufficiency, Weight loss, Co...	ORPHA:309031
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp...	OMIM:619846
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased...	OMIM:300291
Bardet-Biedl Syndrome 19	Hyposmia	OMIM:615996
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Cardiomyopathy, EMG: myopathic abnormalities, Short stature, ...	ORPHA:98907
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Biliary ...	OMIM:619991
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Hypertrophic cardi...	OMIM:201475
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechia...	ORPHA:294
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Bradycardia,...	ORPHA:99826
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium	OMIM:225790
Schnitzler Syndrome	Hepatomegaly, Anemia, Leukocytosis, Increased circulating IgM level, Splenomegaly	ORPHA:37748
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Exocrine pancreatic insufficiency, ...	OMIM:260370
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Marcus-Gunn Syndrome	Unilateral ptosis, Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Neu-Laxova Syndrome	Pterygium, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash ...	ORPHA:2671
Lcat Deficiency	Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Decreased circul...	ORPHA:650
Meningococcal Meningitis	Sepsis, Renal insufficiency, Infectious encephalitis	ORPHA:33475
Alg6-Cdg	Protein-losing enteropathy, Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbum...	ORPHA:79320
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Hypertension, Splenomegaly, Tachycardia	OMIM:121300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Sepsis, Hydroureter, Neoplasm of the heart, Megacystis, Multicystic kidney dysplasia	ORPHA:2241
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Increased serum bile acid concentration, Esophageal varix, Portal hypertension, Ele...	OMIM:619662
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia, Recurrent skin infections, Corneal scarring, Corneal ulceration	OMIM:616488
Complement Component 5 Deficiency	Recurrent meningococcal disease, Generalized seborrheic dermatitis, Recurrent Neisserial infections	OMIM:609536
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Dysphagia, Elevated circulating alpha-fetopro...	ORPHA:64753
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:137920
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level, Small for ge...	OMIM:215250
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Craniosynostosis	ORPHA:88643
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Infant Acute Respiratory Distress Syndrome	Sepsis	ORPHA:70587
Glycogen Storage Disease Ixb	Hypoglycemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:244200
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Jaundice, Elevated circulating hepatic transaminase concentration, Ma...	OMIM:613070
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperglycemia, Proximal amyotrophy, Hyperlipidemia	OMIM:604484
Endove Syndrome, Limb-Only Type	Neonatal sepsis, Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steat...	OMIM:607765
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hepatomegaly, Macrovesicular hepatic steatosis, Wolff-Parkinson-White s...	OMIM:618234
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Transient hyperlipidemia, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arr...	ORPHA:156
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Acquired Purpura Fulminans	Sepsis	ORPHA:49566
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ...	ORPHA:85451
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Increased circulating IgG level, Diarrhe...	ORPHA:83313
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Steatorrhea, Jaundice, Elevated circulating hepatic transaminase conc...	ORPHA:79303
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri...	OMIM:620135
Ventilator-Induced Diaphragmatic Dysfunction	Sepsis, Severe infection	ORPHA:505395
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Neonatal sepsis, Recurrent lower respiratory tract infections, Recurrent urinary tract in...	OMIM:612541
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorr...	OMIM:613812
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Jaundice, Elevated circulating hepatic trans...	ORPHA:79124
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ...	OMIM:211600
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Beta-Thalassemia Intermedia	Decreased liver function, Reduced bone mineral density, Anemia of inadequate production, Splenome...	ORPHA:231222
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ectropion, Recurrent skin infections, Urinary bladder inflammation, Pterygium	ORPHA:79403
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Hypertension, Increased body weight, Osteoporosis, Adrenal hyperplasia, Dorsocervical...	OMIM:615830
Roifman Syndrome	Eosinophilia, Decreased circulating antibody level, Hepatosplenomegaly, Retinal dystrophy	ORPHA:353298
X-Linked Lissencephaly With Abnormal Genitalia	Hypohidrosis, Aganglionic megacolon, Exocrine pancreatic insufficiency	ORPHA:452
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the pancreas, Polycystic liver disease	ORPHA:2924
Cyclic Neutropenia	Severe infection, Sepsis, Opportunistic infection, Recurrent tonsillitis	ORPHA:2686
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fulminant hepati...	OMIM:618549
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Inhalational Anthrax	Sepsis	ORPHA:247257
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
19P13.12 Microdeletion Syndrome	Self-injurious behavior, Aortic regurgitation, Hyperactivity, Hyperlipidemia, Arthrogryposis mult...	ORPHA:254346
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Iris hypopigmentation, Sp...	ORPHA:79477
Hyperostosis Cranialis Interna	Hyposmia, Anosmia	OMIM:144755
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczematoid dermatitis	OMIM:300299
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Xanthelasma, Tendon xanthomatosis, Increased LDL cholesterol concentration,...	OMIM:277460
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Autosomal Dominant Severe Congenital Neutropenia	Recurrent aphthous stomatitis, Periodontitis, Recurrent ear infections, Rhinitis, Recurrent viral...	ORPHA:486
Neonatal Lupus Erythematosus	Aplastic anemia, Abnormal bleeding, Hepatomegaly, Anemia, Prolonged QT interval, Heart block, Pan...	ORPHA:398124
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Autosomal Recessive Spastic Paraplegia Type 57	Distal lower limb amyotrophy, Abnormality of the Achilles tendon, Abnormal myelination	ORPHA:431329
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Tibial Aplasia-Ectrodactyly Syndrome	Popliteal pterygium, Patellar aplasia	ORPHA:3329
Congenital Tufting Enteropathy	Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fecal osmolality, Abnormal sma...	ORPHA:92050
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Hepatoportal Sclerosis	Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja...	ORPHA:64743
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Postnatal growth retardation, Osteopenia, Hepatomegaly, Generalized lipodys...	OMIM:619127
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertensio...	ORPHA:2414
Huntington Disease	Abnormality of the sense of smell	ORPHA:399
Beta-Thalassemia	Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Hypertrophic cardiomyopathy, ...	ORPHA:848
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, Narrow palate, Osteopenia, Ventral hernia, Inguinal hernia, High palate, Pe...	ORPHA:536532
Hypercholanemia, Familial 1	Rickets, Steatorrhea, Increased serum bile acid concentration, Failure to thrive, Fat malabsorption	OMIM:607748
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Facial diplegia, Prolonged QRS complex, Abnormality of the tongue ...	ORPHA:273
Craniofrontonasal Syndrome	Axillary pterygium, Hypoplastic nasal tip, Telecanthus, Bifid nasal tip, Coronal craniosynostosis...	OMIM:304110
Mirage Syndrome	Sepsis, Hypospadias, Recurrent urinary tract infections, Microphallus, Recurrent bacterial infect...	OMIM:617053
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Hypoglycemia, Decreased circulating cortisol level, Anemia	OMIM:618838
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Cystic Fibrosis	Cirrhosis, Steatorrhea, Elevated circulating hepatic transaminase concentration, Decreased body m...	ORPHA:586
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Omenn Syndrome	Nephrotic syndrome, Sepsis	ORPHA:39041
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:229070
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Abnormal circulating lip...	ORPHA:77293
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Hypercholesterolemia, Familial, 3	Tendon xanthomatosis, Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, Hypoglycemia	OMIM:614702
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Polyphagia, Obesity, Hypogonadism	OMIM:614962
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Choanal atresia, Ankyloblepharon	ORPHA:1300
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Hypertension, Hyperlipidemia	OMIM:603278
Hypogonadotropic Hypogonadism 27 Without Anosmia	Anosmia	OMIM:619755
Refsum Disease, Classic	Cataract, Ptosis, Anosmia	OMIM:266500
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce...	OMIM:603903
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Agitation, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:615688
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Elevated circulating alanine aminotransferase concentration, Secundum a...	OMIM:620609
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Eosinophilia, Failure to thr...	OMIM:226990
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Gastroesophageal reflux, Pancytopenia, Chronic diarrhea, Portal hypertension, Hypot...	OMIM:613385
Bacterial Toxic-Shock Syndrome	Myocarditis, Sepsis, Recurrent urinary tract infections, Meningitis, Severe varicella zoster infe...	ORPHA:36234
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Recurrent aphthous stomatitis, B lym...	OMIM:301078
Sepsis In Premature Infants	Neonatal sepsis, Increased circulating interleukin 6 concentration, Invasive fungal infection, Se...	ORPHA:90051
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemorrhage, Pericarditis, Thrombocy...	ORPHA:509
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia	ORPHA:85447
Autosomal Recessive Spastic Paraplegia Type 67	Generalized amyotrophy, Abnormal myelination	ORPHA:401820
Rift Valley Fever	Anorexia, Hematemesis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia,...	ORPHA:319251
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:2137
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert...	OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Abnormal bleeding, Acute myeloid leuke...	ORPHA:75564
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Hypertension, Increas...	OMIM:615954
Microtriplication 11Q24.1	Hyperlipidemia, Short stature, Obesity, Cleft palate, Bruxism	ORPHA:289522
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short nose, Popliteal pterygium, Patellar hypoplasia, Dislocated radial head, Blepharophimosis, S...	OMIM:609945
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon...	ORPHA:422
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alv...	ORPHA:99931
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Purine Nucleoside Phosphorylase Deficiency	Recurrent lower respiratory tract infections, Recurrent opportunistic infections, Recurrent urina...	OMIM:613179
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time, Intrahepatic cholestasis, Hepatomegaly, Cardiomegaly, Elevated circul...	OMIM:614921
Ataxia-Telangiectasia	Glucose intolerance, Chronic diarrhea, Decreased circulating IgA level, Hypoplasia of the thymus,...	OMIM:208900
Avian Influenza	Acute kidney injury, Sepsis, Meningitis, Infectious encephalitis	ORPHA:454836
Nephrotic Syndrome, Type 1	Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Growth delay, Pyloric s...	OMIM:256300
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Inflammatory abnormality of the eye, Arthritis, Skin rash, Episcleritis, Conju...	ORPHA:36412
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Amyloidosis, Familial Visceral	Hypertension, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Hepatomegaly, Anemia, Petechiae, Increased bone mineral density, Reticulocytosis, ...	OMIM:611490
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Anemia, Melena, Elevated circulating hepatic transaminase concentration, Petechiae, ...	ORPHA:340
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Sepsis, Recurrent infections, Increased circulating IgE level, Meningitis, Nephrotic syndrome, Re...	ORPHA:37042
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Sepsis, Glomerular sclerosis, Cardiomyopathy, Proteinuria, Nephropathy	ORPHA:247691
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Staphylococcal Necrotizing Pneumonia	Sepsis, Severe infection	ORPHA:36238
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Decreased circulating antibody level, Hypo...	OMIM:619750
Mevalonic Aciduria	Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Elevat...	OMIM:610377
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Systemic Sclerosis	Nail bed telangiectasia, Gastroparesis, Bowel incontinence, Pericarditis, Dysphagia, Intestinal b...	ORPHA:90291
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Protein-losing enteropathy, Hypokalemia, Hypocalcemia, Diarrhea, Cachexia, Glossitis, H...	OMIM:175500
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia	OMIM:243000
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Hereditary Folate Malabsorption	Anorexia, Gastroesophageal reflux, Pancytopenia, Diarrhea, Megaloblastic anemia, Decreased circul...	ORPHA:90045
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Lipoatrophy, Osteolytic defects of the distal phalanges of the hand, Dec...	OMIM:614008
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S...	OMIM:614473
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Congenital Disorder Of Glycosylation, Type Iib	Optic atrophy, Hepatomegaly, Decreased circulating antibody level, Reduced tissue mannosyl-oligos...	OMIM:606056
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells...	ORPHA:1830
Chylomicron Retention Disease	Steatorrhea, Elevated circulating hepatic transaminase concentration, Diarrhea, Acanthocytosis, R...	ORPHA:71
Cystic Echinococcosis	Cholestatic liver disease, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase conc...	ORPHA:400
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce...	ORPHA:231401
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Hepatomegaly, Anemia, Iron deficiency anemia, Diarrhea, Hypoproteinemia, ...	OMIM:226300
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocor...	OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Agitation, Increased serum testosterone level, Decreased circulating ACTH concentrati...	OMIM:610489
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Anemia, Splenomegaly	ORPHA:75563
Babesiosis	Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly...	ORPHA:108
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated circulating alanine aminotransferase concentration, Pancreatic aplasia, Exocrine pancrea...	OMIM:618500
Familial Multiple Lipomatosis	Abnormal tricuspid valve morphology, Increased adipose tissue, Hyperlipidemia, Lipodystrophy, Fun...	ORPHA:199276
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:614897
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos...	ORPHA:98848
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen...	OMIM:235555
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Heterochromia iridis, Anosmia, White eyelashes, White eyebrow, Blue ir...	OMIM:613266
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Retinal coloboma, Abnormal optic disc morphology, Exocrine ...	ORPHA:508498
Congenital Disorder Of Glycosylation, Type Il	Atrial septal defect, Hepatomegaly, Pericardial effusion, Failure to thrive, Splenomegaly, Lipody...	OMIM:608776
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Glycogen Storage Disease Ib	Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Hyperuricemia, Hypertension, Hyperli...	OMIM:232220
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec...	ORPHA:206594
Spondyloepimetaphyseal Dysplasia, Krakow Type	Constipation, Decreased circulating total IgM, Annular pancreas, Elevated circulating alkaline ph...	OMIM:618162
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Agitation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia...	OMIM:219080
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Decreased circulating cortisol level, Pituitary adenoma, Type ...	ORPHA:199299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement C3 concentration, Decreased circulating complement factor I conc...	OMIM:235400
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopat...	ORPHA:565612
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia	ORPHA:158014
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ...	ORPHA:158029
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Acrofacial Dysostosis, Cincinnati Type	Short nose, Bilateral choanal atresia, Recurrent otitis media, Upper eyelid coloboma, Pterygium, ...	OMIM:616462
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:263455
Riddle Syndrome	Diarrhea, Conjunctival telangiectasia, Decreased circulating IgG level, Elevated circulating alph...	ORPHA:420741
Autoinflammation With Infantile Enterocolitis	Elevated circulating C-reactive protein concentration, Episodic vomiting, Short stature, Enteroco...	OMIM:616050
Chronic Granulomatous Disease	Sepsis, Meningitis, Recurrent respiratory infections	ORPHA:379
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae...	ORPHA:824
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Atopic Keratoconjunctivitis	Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne...	ORPHA:163934
Gaucher Disease Type 1	Ascites, Leukopenia, Splenomegaly, Osteolysis, Abnormal bleeding, Pancytopenia, Splenic infarctio...	ORPHA:77259
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Lethal Congenital Contracture Syndrome 9	Axillary pterygium, Anteverted nares, Wrist flexion contracture, Antecubital pterygium, Depressed...	OMIM:616503
Dubowitz Syndrome	Aplastic anemia, Episodic vomiting, Gastroesophageal reflux, Hyperactivity, Chronic diarrhea, Hyp...	OMIM:223370
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Vernal Keratoconjunctivitis	Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat...	ORPHA:70476
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Vasculitis, Vasculitis in the ski...	OMIM:617718
Maternal Uniparental Disomy Of Chromosome 4	Postnatal growth retardation, Diabetes insipidus, Diarrhea, Calf muscle pseudohypertrophy, Decrea...	ORPHA:96180
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Abnormal circulating protein concentration, Diarrhea, Hematochezia, A...	ORPHA:103910
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Recurrent infections, Chronic mucocutaneous candidiasis, Recurrent staphylococcal ...	OMIM:116920
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, Rec...	OMIM:608233
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Intestinal obstruction, Impaired lymphocyte transformation with phyt...	OMIM:243150
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Bile Acid Conjugation Defect 1	Rickets, Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Ele...	OMIM:619232
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Recurrent E. coli infections, Recurrent Staphylococcus aureus in...	OMIM:306400
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption, Hypocholesterolemia	OMIM:614338
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Frontofacionasal Dysplasia	Short nose, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, Telecanthus, Absent inner e...	ORPHA:1791
Immunoneurologic Disorder, X-Linked	Small for gestational age, Decreased circulating IgG2 level	OMIM:300076
Immunodeficiency 56	Cirrhosis, Cholangitis, Panhypogammaglobulinemia, Chronic diarrhea, Failure to thrive, Chronic he...	OMIM:615207
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Chronic diarrhea, Decreased small intestinal mucosa ...	ORPHA:103907
Wolfram Syndrome 2	Optic atrophy, Decreased circulating antibody level, Optic neuropathy, Impaired collagen-induced ...	OMIM:604928
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Kyphomelic Dysplasia	Flat acetabular roof, Depressed nasal bridge, Pterygium	OMIM:211350
Stevens-Johnson Syndrome	Sepsis, Dysuria, Abnormal myocardium morphology, Recurrent respiratory infections, Renal insuffic...	ORPHA:36426
Solitary Median Maxillary Central Incisor	Anosmia, Choanal atresia, Midnasal stenosis, Abnormal nasopharynx morphology, Pyriform aperture s...	OMIM:147250
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Carnitine-Acylcarnitine Translocase Deficiency	Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bra...	OMIM:212138
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Antecubital pterygium, Recurrent otitis media, Genu varum	ORPHA:2502
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Diarrhea, T lymphocytopenia, Failure to thrive, Increased circulating IgM level, Reduced natural ...	OMIM:242860
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Refsum Disease	Cataract, Ptosis, Anosmia	ORPHA:773
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Popliteal Pterygium Syndrome	Popliteal pterygium, Intercrural pterygium, Ankyloblepharon	OMIM:119500
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Toxic Epidermal Necrolysis	Sepsis, Dysuria, Abnormal myocardium morphology, Recurrent respiratory infections, Renal insuffic...	ORPHA:537
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Cholestasis,...	ORPHA:171
Exudative Vitreoretinopathy 4	Vitreous hemorrhage, Osteopenia	OMIM:601813
Sweet Syndrome	Increased circulating interleukin 6 concentration, Recurrent infections, Abnormal circulating int...	ORPHA:3243
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent infections, Sepsis, Decreased circulating antibody level	ORPHA:79396
Beckwith-Wiedemann Syndrome	Large for gestational age, Neonatal hypoglycemia, Hepatomegaly, Abnormal pancreas morphology, Cho...	ORPHA:116
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Kleine-Levin Syndrome	Parosmia	ORPHA:33543
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Decreased circulating antibody level, Obesity, Splenomeg...	OMIM:605309
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis	ORPHA:391
Congenital Rubella Syndrome	Atrial septal defect, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Type I diab...	ORPHA:290
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Cholestasis, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, H...	OMIM:615630
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic steatosis, Hepatic failure	OMIM:617872
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Gorlin Syndrome	Plantar pits, Iris coloboma, Palmar pits, Telecanthus, Epicanthus, Abnormality of the sense of sm...	ORPHA:377
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Reduced leukocyte alpha-mannosidase activity, Vacuolated lymphocytes, Decreased cir...	OMIM:248500
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Calcinosis, Generalized lipodystrophy, Osteolytic defects of the distal phalange...	ORPHA:90154
Zollinger-Ellison Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Duodenal ulcer, Lipoma, Pituitary growth hor...	ORPHA:913
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly...	OMIM:254450
Fish-Eye Disease	Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Dyskeratosis Congenita, X-Linked	Pterygium, Sparse eyelashes, Blepharitis, Bone marrow hypocellularity, Conjunctivitis, Cataract	OMIM:305000
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa...	OMIM:606003
Tick-Borne Encephalitis	Anorexia, Abnormal circulating cytokine concentration, Elevated circulating hepatic transaminase ...	ORPHA:297
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Elevated circulating C-reactive protein concentrati...	OMIM:617099
Bardet-Biedl Syndrome 17	Hyposmia, Anosmia	OMIM:615994
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	ORPHA:131
Pseudo-Torch Syndrome 3	Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Cardiomegaly, Congenital ...	OMIM:618886
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal cardiac ventricul...	ORPHA:2394
Moebius Syndrome	Corneal opacity, Ptosis, Blepharitis, Epicanthus, Abnormality of the sense of smell	ORPHA:570
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly	OMIM:620296
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Bloody diarrhea, Abnormal in...	OMIM:619079
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Mohr-Tranebjaerg Syndrome	Optic atrophy, Absent brainstem auditory responses, Dysphagia, Attention deficit hyperactivity di...	ORPHA:52368
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hepatic failure	ORPHA:664
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypercholesterolemia	OMIM:610644
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, Chronic diarrhea, T lymphocy...	OMIM:615617
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial...	OMIM:619051
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Brucellosis	Granuloma, Hyperhidrosis, Leukopenia, Splenomegaly, Anorexia, Abnormality of the peripheral nervo...	ORPHA:1304
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ...	OMIM:618805
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Dysphagia, Restlessness, Gastrointestinal dysmotilit...	ORPHA:391428
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Small for gestational age, Crypt hyperplasia, Villous at...	OMIM:613217
Abetalipoproteinemia	Osteopenia, Congestive heart failure, Steatorrhea, Decreased HDL cholesterol concentration, Hepat...	ORPHA:14
Fabry Disease	Abnormal circulating lipid concentration, Delayed puberty, Reduced bone mineral density, Hyperten...	ORPHA:324
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Hepatomegaly, Heart block, Hypoketotic hypoglycemia, Hyperlipidemia, Elevate...	ORPHA:228308
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Atrial fibrillation, Supraventricular arrhythmia, Hypertro...	ORPHA:75249
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Hydrolethalus	Abnormality of the sense of smell	ORPHA:2189
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Acro-Renal-Mandibular Syndrome	Downslanted palpebral fissures, Hip dislocation, Abnormality of the sense of smell	ORPHA:958
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se...	OMIM:618652
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS c...	ORPHA:75565
Sitosterolemia 1	Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Splenomega...	OMIM:210250
Postinfectious Vasculitis	Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Severe varicell...	ORPHA:48435
Generalized Pustular Psoriasis	Sepsis, Renal insufficiency	ORPHA:247353
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Good Syndrome	Anemia, Diarrhea, Abnormal leukocyte morphology, Decreased circulating antibody level, Thrombocyt...	ORPHA:169105
Dermatopathia Pigmentosa Reticularis	Adermatoglyphia, Abnormal conjunctiva morphology, Palmoplantar hyperkeratosis	OMIM:125595
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Cardiomegaly, Splenic cyst, Patent foramen ovale, Tricuspid regurgitation, Retinal ...	OMIM:620371
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Postnatal growth retardation, Rickets, Aggressive behavior, Elevated circulating ...	OMIM:309000
Addison Disease	Delayed puberty, Generalized bone demineralization, Decreased circulating cortisol level, Type I ...	ORPHA:85138
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Nonketotic hypoglycemia, Hyperammonemia, Cardiomegaly, Elevated circulating crea...	OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Refractory Celiac Disease	Protein-losing enteropathy, Jejunitis, Hypocalcemia, Chronic diarrhea, Hypoproteinemia, Osteoporo...	ORPHA:398063
Rett Syndrome	Agitation, Increased serum pyruvate, Stereotypical hand wringing, Growth delay, Hyperammonemia, F...	ORPHA:778
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammag...	OMIM:600802
Shigellosis	Myocarditis, Urethritis, Acute kidney injury, Sepsis, Hemolytic-uremic syndrome	ORPHA:810
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Purpura, Petechiae, Vascu...	ORPHA:91138
Isolated Biliary Atresia	Decreased liver function, Xanthelasma, Prolonged prothrombin time, Elevated circulating hepatic t...	ORPHA:30391
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal tricuspid valve mor...	ORPHA:90308
Waardenburg Syndrome, Type 2E	Anosmia, Heterochromia iridis, Hypoplasia of the iris, Iris hypopigmentation, White eyelashes, Wh...	OMIM:611584
Interstitial Cystitis	Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the bladder, Nocturia, Abnormal...	ORPHA:37202
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia, Atrophic gas...	OMIM:616576
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, A...	ORPHA:110
Gray Platelet Syndrome	Abnormal bleeding, Myelofibrosis, Abnormal number of alpha granules, Menorrhagia, Thrombocytopeni...	OMIM:139090
Smith-Kingsmore Syndrome	Large for gestational age, Hypoglycemia, Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Kufor-Rakeb Syndrome	Hyposmia, Anosmia	OMIM:606693
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia	ORPHA:99745
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Hepatic fibrosis,...	OMIM:616589
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Sepsis, Hydroureter, Pyoderma, Recurrent urinary tract infecti...	ORPHA:79404
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Prolonged prothrombin time, Congestive heart failure, Cirrhosis, Hepatomegaly, Decreased liver fu...	ORPHA:367
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden...	ORPHA:33226
8P11.2 Deletion Syndrome	Microcornea, Anosmia, Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Depressed nasal ...	ORPHA:251066
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypopho...	ORPHA:534
Currarino Syndrome	Sepsis, Urinary incontinence, Recurrent urinary tract infections, Neurogenic bladder, Vesicourete...	OMIM:176450
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hypoketotic hypoglycemia, Hyperlipidemia, Elevated circulating creatine kinase conc...	ORPHA:157
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Fail...	ORPHA:83617
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Tangier Disease	Hypertriglyceridemia, Facial diplegia, Coronary artery stenosis, Hepatosplenomegaly, Left ventric...	ORPHA:31150
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Reduced level of N-acetylglucosaminyl...	ORPHA:79329
Igg4-Related Aortitis	Intestinal obstruction, Increased circulating antibody level, Elevated circulating C-reactive pro...	ORPHA:449400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Myositis, Increased circulating IgE level, Increased circulati...	OMIM:620565
Aromatase Deficiency	Osteopenia, Delayed epiphyseal ossification, Hyperlipidemia, Enlarged polycystic ovaries, Osteopo...	ORPHA:91
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Gastroparesis, Intestinal pseud...	OMIM:619350
Rat-Bite Fever	Myocarditis, Sepsis, Meningitis, Pericarditis, Endocarditis	ORPHA:31205
Idiopathic Bronchiectasis	Acute infectious pneumonia, Recurrent Haemophilus influenzae infections, Recurrent lower respirat...	ORPHA:60033
Vitreoretinopathy, Neovascular Inflammatory	Vitreous hemorrhage, Posterior retinal neovascularization, Peripheral retinal neovascularization	OMIM:193235
Listeriosis	Myocarditis, Acute kidney injury, Sepsis, Unusual skin infection, Meningitis, Pericarditis, Unusu...	ORPHA:533
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Pulmonary arterial hy...	OMIM:602782
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ...	ORPHA:228305
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:308700
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatomegaly, Hypocalcemia, Primary hypothyroidism, Portal hypertension...	OMIM:243800
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Renal-Hepatic-Pancreatic Dysplasia 1	Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Atrial...	OMIM:208540
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiac arrest, Cardiomyop...	OMIM:617713
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Abnormality of the pancreas, ...	OMIM:222470
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia	OMIM:601152
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration,...	ORPHA:85443
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Hyperglycinemia, Protein-losing enteropathy	OMIM:619063
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Dysgyria, Type II lissencephaly, Gray matter heterotopia, Abnormal myelination	ORPHA:352682
Holoprosencephaly	Hyposmia, Anteverted nares, Highly arched eyebrow, Anosmia, Choanal atresia, Depressed nasal tip,...	ORPHA:2162
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Hyperuricemia, Hyperlipidemia, Joint hemorrhage, Epistaxis, Intracra...	ORPHA:35909
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:618641
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Aortic valve stenosis, Cardiomegaly, Bicuspid aortic valve, Hernia, ...	ORPHA:363705
Angiostrongyliasis	Increased circulating IgG level, Projectile vomiting, Increased circulating IgA level, Vomiting, ...	ORPHA:74
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Rasmussen Subacute Encephalitis	Hyperactivity, Attention deficit hyperactivity disorder, Decreased circulating total IgA	ORPHA:1929
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Splenomegaly, ...	OMIM:228000
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Increased circulating IgE level, Eosinophilia, Cutaneous abscess, Decreased circ...	OMIM:618282
Necrotizing Enterocolitis	Neonatal sepsis, Abnormal heart morphology	ORPHA:391673
Malignant Atrophic Papulosis	Constrictive pericarditis, Abnormal conjunctiva morphology	OMIM:602248
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Hyperactivity, Optic nerve hypoplasia, Reti...	ORPHA:508488
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani...	ORPHA:85212
Propionic Acidemia	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Osteopor...	OMIM:606054
Vici Syndrome	Neutropenia, Elevated circulating creatine kinase concentration, Cutaneous anergy, T lymphocytope...	OMIM:242840
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hepatomegaly, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, H...	ORPHA:5
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ...	OMIM:261680
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:228300
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, Microvillu...	OMIM:619445
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Neonatal hypoglycemia, Enlarged kidney, Bradycardia, ST segment elevati...	OMIM:261740
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa...	ORPHA:79076
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Gingival bleeding, Hypotension, Ascites, Th...	ORPHA:99828
Melioidosis	Unusual skin infection, Sepsis, Brain abscess	ORPHA:31202
Turner Syndrome Due To Structural X Chromosome Anomalies	Gastrointestinal inflammation, Genu valgum, Cubitus valgus, Madelung deformity, Recurrent otitis ...	ORPHA:99413
Mosaic Monosomy X	Gastrointestinal inflammation, Genu valgum, Cubitus valgus, Madelung deformity, Recurrent otitis ...	ORPHA:99228
Monosomy X	Gastrointestinal inflammation, Genu valgum, Cubitus valgus, Madelung deformity, Recurrent otitis ...	ORPHA:99226
Turner Syndrome	Gastrointestinal inflammation, Genu valgum, Cubitus valgus, Madelung deformity, Recurrent otitis ...	ORPHA:881
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hyposmia, Highly arched eyebrow, Delayed cranial suture closure, Recurrent infections, Anisocoria...	OMIM:618653
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard...	OMIM:300257
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Large for gestational age, Neonatal hypoglycemia, Decreased circulating IgA level	ORPHA:457485
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Decreased mean ...	ORPHA:231226
Oculoskeletodental Syndrome	Hepatomegaly, Protein-losing enteropathy, Hypocalcemia, Elbow flexion contracture, Hypothyroidism...	OMIM:618440
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intermittent diarrhea, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Congenital hyp...	ORPHA:2255
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Decreased circulating antibody level, Sp...	ORPHA:1572
Glycogen Storage Disease Ic	Delayed puberty, Xanthelasma, Hepatomegaly, Hyperuricemia, Stomatitis, Spider hemangioma, Hyperte...	OMIM:232240
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con...	ORPHA:231214
Kid Syndrome	Recurrent candida infections, Sepsis, Recurrent bacterial skin infections, Recurrent cutaneous ab...	ORPHA:477
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Chron...	ORPHA:100080
Igg4-Related Pachymeningitis	Abnormality of the brachial nerve plexus, Pancreatitis, Elevated circulating C-reactive protein c...	ORPHA:449427
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Vitreous hemorrhage, Reduced bone mineral density, Retinal neovasculariza...	ORPHA:891
Bardet-Biedl Syndrome 20	Atrial septal defect, Male hypogonadism, Hypercholesterolemia, Obesity	OMIM:619471
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Mitchell-Riley Syndrome	Diarrhea, Hyperbilirubinemia, Meckel diverticulum, Acholic stools, Intestinal malrotation, Hyperg...	OMIM:615710
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Gastrointestinal hemorrhage, Chronic lymphatic leukemia, Monoclonal ...	ORPHA:91139
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Chromomycosis	Ectropion, Eyelid retraction, Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca	ORPHA:182
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Cantu Syndrome	Bicuspid aortic valve, Osteoporosis, Pericardial effusion, Congenital hypertrophy of left ventric...	OMIM:239850
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Nocardiosis	Sepsis, Abnormal heart valve morphology, Meningitis, Pericarditis, Unusual CNS infection, Infecti...	ORPHA:31204
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Eales Disease	Ischemic stroke, Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vit...	ORPHA:40923
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteolytic defects of the distal phalanges of the hand, High palate, Hyperlipidemia, Short statur...	ORPHA:90153
Sézary Syndrome	Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly	ORPHA:3162
Orofaciodigital Syndrome Type 1	Exocrine pancreatic insufficiency, Pancreatic cysts, Elevated circulating hepatic transaminase co...	ORPHA:2750
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Left-to-right shunt, Splenomegaly, Elevated circulating creatini...	OMIM:619534
Campomelic Dysplasia	Hip dislocation, Depressed nasal bridge, Abnormality of the sense of smell	ORPHA:140
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hy...	ORPHA:308552
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal left ventricular function, Abnormal tendon morphology, Angina pect...	ORPHA:391665
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Parkinson Disease 8, Autosomal Dominant	Hyposmia	OMIM:607060
Polyendocrine-Polyneuropathy Syndrome	Abnormality of the sense of smell	OMIM:616113
Glycogen Storage Disease Ii	Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Subarachno...	OMIM:232300
Vici Syndrome	Optic atrophy, Decreased circulating IgG level, Abnormality of retinal pigmentation, Abnormal mac...	ORPHA:1493
Immunodeficiency 31C	Delayed puberty, Osteopenia, Hepatomegaly, Protein-losing enteropathy, Diarrhea, Hypothyroidism, ...	OMIM:614162
Kallmann Syndrome With Spastic Paraplegia	Anosmia	OMIM:308750
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ...	ORPHA:268
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Severe intrauterine growth retardation, Pulmonic stenosis, Con...	ORPHA:3455
Vascular Hyalinosis	Protein-losing enteropathy, Diarrhea, Chorioretinal scar, Hematochezia, Subarachnoid hemorrhage	OMIM:277175
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Chronic noninfecti...	ORPHA:100082
Microsporidiosis	Myocarditis, Urethritis, Sepsis, Bronchiolitis, Nephritis, Endocarditis, Infectious encephalitis,...	ORPHA:2552
Mucopolysaccharidosis, Type Iiia	Dense calvaria, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Hypertrophic cardiomyopathy, Elevated circulating alanine ami...	OMIM:614582
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Portal vein thro...	OMIM:616028
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Corneal ulceration, Hyposmia, Sinusitis, Conjunctival hyperemia, Pustule,...	ORPHA:68
Immunodeficiency 21	Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in...	OMIM:614172
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Aredyld Syndrome	Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, Type II diabetes mellitus, Type I diabetes...	ORPHA:1133
Gaucher Disease, Perinatal Lethal	Purpura, Hepatomegaly, Anemia, Petechiae, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenome...	OMIM:608013
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Immunodeficiency 58	Recurrent aphthous stomatitis, Chronic diarrhea, Decreased circulating antibody level, Esophagiti...	OMIM:618131
Rotor Syndrome	Conjunctival icterus	ORPHA:3111
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Decreased skull ossification, Ascites, Hypertrophic cardiomyopathy, Cardiomegaly, Ven...	OMIM:616897
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Neu-Laxova Syndrome 1	Wide nose, Pterygium, Absent eyelashes, Depressed nasal ridge, Ablepharon, Cataract, Joint contra...	OMIM:256520
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Increased circulating IgG level, I...	OMIM:615934
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Single naris, Hyposmia, Anosmia, Cataract, Absent nares, Iris coloboma	ORPHA:2250
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227982
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid regurgitation, Hepati...	ORPHA:97287
Occipital Horn Syndrome	Abnormality of the wrist, Genu valgum, Recurrent urinary tract infections, Delayed cranial suture...	ORPHA:198
Kallmann Syndrome	Hyposmia, Ptosis, Anosmia	ORPHA:478
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Non-caseating epithelioid cell granulomatosis, Macrocytic anemi...	ORPHA:227990
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension	OMIM:268800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Lymphopenia	OMIM:617425
Woodhouse-Sakati Syndrome	Delayed puberty, Osteopenia, Decreased response to growth hormone stimulation test, Hyperinsuline...	ORPHA:3464
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Pulmonary arterial hypertension, Delayed epiphyseal ossification	OMIM:613320
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Acute Bilirubin Encephalopathy	Neonatal sepsis	ORPHA:529799
Chronic Bilirubin Encephalopathy	Neonatal sepsis	ORPHA:529808
Atelis Syndrome 2	Hyperinsulinemia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia, Vi...	OMIM:620185
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Recurrent bacterial infections	OMIM:603585
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Thymoma	Aplastic anemia, Abnormal lymphocyte physiology, Decreased circulating antibody level, Pure red c...	ORPHA:99867
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia, Colitis	OMIM:615190
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Abnormal lacrimal duct morphology, Hypopl...	ORPHA:2363
Yellow Fever	Prolonged prothrombin time, Hematemesis, Jaundice, Increased circulating interleukin 6 concentrat...	ORPHA:99829
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Neuroleptic Malignant Syndrome	Acute kidney injury, Sepsis, Urinary incontinence, Myoglobinuria, Proteinuria	ORPHA:94093
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Diarrhea, Microvesicular hepatic steatosis, Leukocytosis,...	OMIM:618278
Tyrosinemia, Type I	Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Anemia, Gastrointestinal hemorrhage, Melena,...	OMIM:276700
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Failure to thrive, De...	OMIM:614602
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Fucosidosis	Cardiomegaly, Abnormality of the gallbladder, Hepatomegaly	ORPHA:349
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Pericardial lymphangiectasia, Rectal prolapse, Protein-losing enteropathy, Intesti...	OMIM:235510
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Protracted diarrhea, Abnormal intestine morphology, Villous atrophy	OMIM:251850
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah...	ORPHA:480520
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Retinal hem...	OMIM:192315
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Intractable diarrhea, Panhypogammaglobu...	ORPHA:84064
Multiple Myeloma	Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a...	ORPHA:29073
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination	ORPHA:85179
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula, Flexion contrac...	OMIM:601110
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp...	ORPHA:457077
Wiskott-Aldrich Syndrome	Sepsis, Abnormal platelet function, Nephropathy, Recurrent respiratory infections, Meningitis	ORPHA:906
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Elevated circulating alanine aminotransferase ...	OMIM:300842
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Intrahepatic cholestasis, Hepatomegaly, Giant cell hepatitis, Elevate...	OMIM:214950
Cowden Syndrome 1	Angioid streaks of the fundus, Thyroiditis, Decreased circulating antibody level, Hypothyroidism,...	OMIM:158350
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Increased serum testosterone level, Hypoplasia of the thymus, ...	OMIM:264090
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Congenital shortened small intestine, Vomiting, Intestinal malrota...	OMIM:300048
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra...	OMIM:615895
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption	OMIM:221400
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pulmonary arterial hypertension, Sclerosis...	ORPHA:2905
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Q Fever	Myocarditis, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal left ventricular function, ...	ORPHA:781
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Anemia, Increased circulating ant...	ORPHA:284
Gaucher Disease	Decreased HDL cholesterol concentration, Increased circulating antibody level, Retinopathy, Leuko...	ORPHA:355
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Hyperactivity, B lymphocytopenia, Diarrhea, T ...	OMIM:251260
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly	ORPHA:234
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Histiocytoid Cardiomyopathy	Congestive heart failure, Hepatomegaly, Atrial flutter, Wolff-Parkinson-White syndrome, Cardiomeg...	ORPHA:137675
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Sple...	OMIM:153670
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa...	ORPHA:732
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Leukopenia, Thrombocytopenia, ...	OMIM:251000
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc...	ORPHA:88
Omenn Syndrome	Erythroderma, Recurrent viral infections, Pneumonia, Recurrent fungal infections, Recurrent bacte...	OMIM:603554
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Meckel diverticulum, Abnormal gastrointestinal tract morphology,...	ORPHA:2847
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Hyperlipidemia, ...	OMIM:241080
Aa Amyloidosis	Enlarged kidney, Hepatomegaly, Cholestasis, Hypotension, Abnormal heart morphology	ORPHA:85445
Diarrhea 9	Diarrhea, Failure to thrive, Villous atrophy	OMIM:618168
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Nasal congestion, Nasal polyposis, Chronic rhinitis...	ORPHA:244
Radiation Proctitis	Sepsis	ORPHA:70475
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Cartilage-Hair Hypoplasia	Hepatomegaly, Anemia, Aganglionic megacolon, Hypocalcemia, Decreased circulating antibody level, ...	ORPHA:175
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Icf Syndrome	Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Hepatomegaly, Osteoporosis	OMIM:601979
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Septo-Optic Dysplasia Spectrum	Anosmia	ORPHA:3157
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,...	OMIM:264800
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fasting hypoglycemia, Hypo...	ORPHA:159
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Primary Sjögren Syndrome	Decreased circulating complement C3 concentration, Normocytic anemia, Increased circulating antib...	ORPHA:289390
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Cryptococcosis	Sepsis, Meningitis	ORPHA:1546
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficien...	ORPHA:100075
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Hamartomatous stomach polyps, Spontaneous, recurrent epistaxis, Hypo...	ORPHA:2929
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly, Spherocytosis	ORPHA:66518
Yao Syndrome	Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjunctivitis si...	OMIM:617321
Chediak-Higashi Syndrome	Periodontitis, Recurrent infections, Spontaneous, recurrent epistaxis, Recurrent systemic pyogeni...	OMIM:214500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Polydipsia, Hyperlipidemia, Aggressive behavior, Decreased response to growth ho...	ORPHA:293987
Young-Onset Parkinson Disease	Hyposmia	ORPHA:2828
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Decreased circulating antibody level, Anemia, Erythroid hypoplasia	OMIM:618165
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Hutchinson-Gilford Progeria Syndrome	Reduced bone mineral density, Ventricular hypertrophy, Hypertension, Female hypogonadism, Aortic ...	ORPHA:740
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular...	ORPHA:365
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Increased bone mineral density, Abnormal heart valve morpholo...	ORPHA:77261
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Pancolitis, In...	OMIM:618213
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Say-Barber-Miller Syndrome	Optic atrophy, Abnormal T cell morphology, Macular degeneration, Decreased circulating antibody l...	ORPHA:3132
Bosma Arhinia Microphthalmia Syndrome	Lacrimal duct atresia, Anosmia, Choanal atresia, Synophrys, Cataract, Aplasia of the nose	OMIM:603457
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Primary hypothyroidism, Hypertension, Hyperl...	ORPHA:64
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio...	OMIM:619167
Menkes Disease	Sepsis, Bladder diverticulum	ORPHA:565
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Por...	OMIM:610199
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pulmonary arterial hypertension	OMIM:612387
Japanese Encephalitis	Anorexia, Increased circulating antibody level, Diarrhea, Facial palsy, Paucity of anterior horn ...	ORPHA:79139
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypog...	OMIM:616026
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac...	ORPHA:100085
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas	ORPHA:935
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Corneal erosion, Corneal opacity, Astigmatism, Choanal atresia, Thin eyebrow, Conjunct...	ORPHA:2273
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Ctcf-Related Neurodevelopmental Disorder	Sepsis, Recurrent lower respiratory tract infections, Recurrent infections, Phimosis, Atrial sept...	ORPHA:363611
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Normocytic anemia, Reduced hematocrit, Choroidal neovascularization, Elevated circulati...	ORPHA:91500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyebrow, Heterochromia iridis, White eyelashes, Anosmia	OMIM:609136
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio...	OMIM:263200
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Igg4-Related Thyroid Disease	Sclerosing cholangitis, Hypocalcemia, Thyroiditis, Thyrotoxicosis with diffuse goiter, Hypothyroi...	ORPHA:64744
Igg4-Related Kidney Disease	Decreased liver function, Decreased circulating complement C3 concentration, Prostatitis, Pancrea...	ORPHA:449395
Ectodermal Dysplasia-Skin Fragility Syndrome	Sepsis, Recurrent pneumonia, Urethral stricture	ORPHA:158668
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Osteolysis	OMIM:612852
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Retinoblastoma	Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage, Leukemia	ORPHA:790
Serkal Syndrome	Congenital diaphragmatic hernia, Abnormality of the adrenal glands, Pulmonic stenosis, Growth del...	ORPHA:139466
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia	ORPHA:90037
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Anosmia	OMIM:619718
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Abnormal bone ossification, Abnormal thymus morphology, Cardiomegaly, Mucosal telangi...	ORPHA:2463
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypophosphatemic rickets, Hypertension, Cardiomegaly, Dilated cardiomyo...	OMIM:208000
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Leopard Syndrome 1	Limited elbow movement, Cubitus valgus, Hyposmia, Depressed nasal ridge, Ptosis, Epicanthus	OMIM:151100
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematochezia, Cellulitis, Oste...	ORPHA:73263
Cog8-Cdg	Failure to thrive, Hypoglycemia, Protein-losing enteropathy, Skeletal muscle atrophy	ORPHA:95428
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Acute kidney injury, Increased circulating interleuk...	ORPHA:542323
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Rest...	ORPHA:758
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating antibody level, Recurrent hand flapping, Frequent temper tantrums, Constipa...	OMIM:617062
Mungan Syndrome	Perimembranous ventricular septal defect, Gastroparesis, Intestinal pseudo-obstruction, Barrett e...	OMIM:611376
Kenny-Caffey Syndrome, Type 1	Delayed closure of the anterior fontanelle, Recurrent bacterial infections	OMIM:244460
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ...	ORPHA:86843
Superficial Siderosis	Partial anosmia, Anosmia, Anisocoria	ORPHA:247245
Amoebic Keratitis	Abnormal corneal epithelium morphology, Corneal ulceration, Corneal stromal edema, Iris atrophy, ...	ORPHA:67043
Coccidioidomycosis	Pancreatitis, Increased circulating IgG level, Granuloma, Increased circulating IgM level, Abnorm...	ORPHA:228123
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Protein-losing enteropathy, Inguinal hernia, Hypocalcemia, Hypoproteinemia, High pa...	OMIM:235255
Trigonocephaly 1	Meckel diverticulum, Craniosynostosis, High, narrow palate, Omphalocele	OMIM:190440
Fucosidosis	Hepatomegaly, Petechiae, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Bruising susceptibility	OMIM:230000
Igg4-Related Submandibular Gland Disease	Prostatitis, Increased circulating antibody level, Cholangitis, Abnormal pancreas morphology, Inc...	ORPHA:449432
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Hypertension, Hepatic cysts	OMIM:613095
Cat Eye Syndrome	Rectal fistula, Tricuspid atresia, Anal stenosis, Rectal atresia, Meckel diverticulum, Total anom...	OMIM:115470
Monosomy 18Q	Hypothyroidism, Failure to thrive, Secondary growth hormone deficiency, Slender build, Abnormal r...	ORPHA:1600
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Reduced bone mineral density, Increased serum bile acid concen...	OMIM:619377
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Hepatitis, Hepatic failure	ORPHA:60
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Elevated circulating hepatic tr...	OMIM:613471
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis	ORPHA:90790
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Mucopolysaccharidosis Type 3	Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Reduced left ventricular ejection f...	ORPHA:581
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Congestive heart failure, Osteopenia, Abnormality of the endocrine system, Prima...	ORPHA:391487
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Thyroiditis, Increased circulating IgA level, Abnormal optic nerve morph...	ORPHA:79078
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Hepatomegaly, Protein-losing enteropathy, Inguinal hernia, Hypocalc...	ORPHA:1655
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Osteoporosis, Hypertrophic cardiomyopathy	ORPHA:1517
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic...	ORPHA:3260
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Hypoglycemia, Hepatomegaly	OMIM:229700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Convex nasal ridge, Recurrent bacterial infections, Depressed nasal bridge	OMIM:241410
Mucolipidosis Ii Alpha/Beta	Osteopenia, Congestive heart failure, Enlarged kidney, Hepatomegaly, Aortic regurgitation, Hypert...	OMIM:252500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat...	OMIM:256810
Transketolase Deficiency	Hepatomegaly, Patent foramen ovale, Type I diabetes mellitus, Abnormal heart morphology, Atrial s...	ORPHA:488618
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage, Mitral val...	OMIM:177850
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Dysphagia, Umbilical...	OMIM:300855
Eisenmenger Syndrome	Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart murmur, Abn...	ORPHA:97214
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic tricuspid valv...	OMIM:265380
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Increased hematocrit	ORPHA:284227
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Blau Syndrome	Iritis, Band keratopathy, Arthritis, Erythema nodosum, Synovitis, Eczematoid dermatitis, Camptoda...	OMIM:186580
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Bloody diarrhea, Duodenitis, Villous atrophy	OMIM:614328
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu...	ORPHA:3427
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration	ORPHA:85435
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Toriello-Lacassie-Droste Syndrome	Short nose, Short palpebral fissure, Telecanthus, Anteverted nares, Epicanthus, Eyelid coloboma, ...	ORPHA:3339
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Bicuspid aortic valve, Patent foramen ovale, Osteoporosis, Generalized osteoporosis, ...	OMIM:245600
White Sponge Nevus 1	Abnormal conjunctiva morphology	OMIM:193900
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase con...	ORPHA:309854
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Cardiogenic Shock	Congestive heart failure, Hepatomegaly, Abnormal left ventricular function, Low-output congestive...	ORPHA:97292
Hereditary Late-Onset Parkinson Disease	Hyposmia	ORPHA:411602
Igg4-Related Ophthalmic Disease	Abnormality of infra-orbital nerve, Prostatitis, Pancreatitis, Cholangitis, Elevated circulating ...	ORPHA:449563
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis	ORPHA:363558
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the wrist, Iritis, Polyarticular arthritis, Malar rash, Skin rash, Uveitis, Sacroi...	ORPHA:85436
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Wide nose, Skin rash, Chron...	OMIM:147060
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility	ORPHA:158687
Wilson Disease	Sunflower cataract, Hyposmia, Kayser-Fleischer ring, Atypical or prolonged hepatitis, Osteoarthri...	OMIM:277900
Keppen-Lubinsky Syndrome	Generalized lipodystrophy, Decreased serum leptin, High palate, Lack of facial subcutaneous fat, ...	OMIM:614098
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Anemia, Small for gestational age, Chronic diarrhea, Leukocytosis, Failure to thriv...	ORPHA:99843
Alg9-Cdg	Enlarged kidney, Abnormal bone ossification, Hypoplasia of the ovary, Abnormal heart morphology, ...	ORPHA:79328
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Musculocontractural Ehlers-Danlos Syndrome	Inguinal hernia, Abnormal heart valve morphology, Atrophic scars, High palate, Constipation, Abno...	ORPHA:2953
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar...	ORPHA:71493
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Gastroparesis, Intestinal...	OMIM:155310
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Scarring, Tricuspid valve prolapse, Aortic regurgitation, Atrophic scars, Diastasis recti, High p...	OMIM:601776
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva	OMIM:277350
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Beckwith-Wiedemann Syndrome	Neonatal hypoglycemia, Hepatomegaly, Enlarged kidney, Cardiomegaly, Cardiomyopathy, Pancreatic hy...	OMIM:130650
Fanconi-Bickel Syndrome	Rickets, Intrahepatic cholestasis, Hepatomegaly, Fasting hypoglycemia, Elevated circulating alani...	OMIM:227810
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hypertension, Hyperlipidemia, Pulmonary embolism	ORPHA:567546
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Right unicoronal synostosis, Asplenia, Hyphema, Aortic valve stenosis, Pulmonic stenosis, Abnorma...	ORPHA:261552
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Familial Tumoral Calcinosis	Hyperostosis, Hepatomegaly, Splenomegaly	ORPHA:53715
Sarcoidosis, Susceptibility To, 1	Anorexia, Hepatomegaly, Increased circulating antibody level, Pancytopenia, Chorioretinitis, Opti...	OMIM:181000
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Charge Syndrome	Highly arched eyebrow, Anosmia, Choanal atresia, Ptosis, Epicanthus, Eyelid coloboma, Depressed n...	ORPHA:138
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Acute kidney injury, Renal tubular epithelial necrosis, Sepsis, Hematuria, Dysuria, Abnormal peni...	ORPHA:95455
Meningioma	Abnormality of the sense of smell	ORPHA:2495
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Chronic diarrhea, Hypothyroidism, Failure to thrive, Type I diabetes mellitus, Ileus, Villous atr...	OMIM:304790
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage	OMIM:611773
Somatostatinoma	Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Gallbladder dysf...	ORPHA:97283
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle...	ORPHA:466768
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Jaundice, Enlarged kidney, Cholangitis, Periportal fibrosis, Hyperte...	ORPHA:731
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase conce...	OMIM:619525
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Abnormality of the wrist, Hip osteoarthritis, Synovial lining hyperplasia, Knee o...	ORPHA:85408
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb amyotrophy, Pachygyria, Abnormal myelination, Abnormal morphology of musculature of ph...	ORPHA:280210
Trichothiodystrophy	Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Macular de...	ORPHA:33364
Williams Syndrome	Abnormal circulating lipid concentration, Hypertension, Cerebral ischemia, Tracheoesophageal fist...	ORPHA:904
Phacoanaphylactic Uveitis	Hyphema, Retinal arteritis	ORPHA:209959
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration	ORPHA:85410
Truncus Arteriosus	Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor...	ORPHA:3384
Plague	Sepsis, Endocarditis, Meningitis	ORPHA:707
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Ascites, Craniosynostosis, Hepatic fibrosis, Pancreatic fibrosis, ...	OMIM:200995
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Recurrent pharyngitis, Myositis, Arthritis, Skin rash, Conjunctivitis, Pericarditis, Erysipelas, ...	ORPHA:32960
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus	ORPHA:96191
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Tricuspid regurgitation	OMIM:620306
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hepatic fibrosis, Epiphyseal stippling	OMIM:601539
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Infantile Systemic Hyalinosis	Camptodactyly of finger, Recurrent bacterial infections	ORPHA:2176
Cockayne Syndrome Type 3	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ...	ORPHA:90324
Farber Disease	Abnormality of the wrist, Arthritis, Corneal opacity, Joint swelling, Abnormality of the knee, Re...	ORPHA:333
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Chronic diarrhea, Small for gestational age, Intestinal obstruction	OMIM:601675
Tarp Syndrome	Meckel diverticulum, Glossoptosis, High palate, Failure to thrive, Cleft palate, Tetralogy of Fal...	OMIM:311900
Traboulsi Syndrome	Cubitus valgus, Wide nose, Spherophakia, Phakodonesis, Iris atrophy, Cataract, Downslanted palpeb...	OMIM:601552
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Camptodactyly, Abnormal myelination	OMIM:617333
Cogan Syndrome	Inflammatory abnormality of the eye, Episcleritis, Keratitis, Conjunctivitis, Scleritis, Uveitis	ORPHA:1467
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Meier-Gorlin Syndrome 7	Meconium peritonitis, Heart block, Anal stenosis, Decreased body weight, High palate, Anal atresi...	OMIM:617063
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, High, narrow palate, Gastroesophageal reflux, Patent foramen ovale, Ventricular ...	OMIM:300967
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Craniosynosto...	ORPHA:667
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Sepsis, Unilateral renal agenesis, Subarterial ventricular septal defect, Secundum atrial septal ...	ORPHA:99646
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Aganglionic megacolon, Pulmonary arterial...	ORPHA:210122
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Pyloric stenosis, Failure to thrive, Short stature, Intrauterine growth reta...	OMIM:616395
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Hennekam Syndrome	Hypocalcemia, Decreased circulating antibody level, Splenomegaly, Lymphopenia	ORPHA:2136
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Relapsing Polychondritis	Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Episc...	ORPHA:728
Porphyria, Congenital Erythropoietic	Osteopenia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Osteolysis, R...	OMIM:263700
Microvillus Inclusion Disease	Diarrhea, Abnormal small intestinal villus morphology, Hypovolemia, Villous atrophy	ORPHA:2290
Bohring-Opitz Syndrome	Severe failure to thrive, Bradycardia, Facial hypotonia, Bilateral wrist flexion contracture, Con...	ORPHA:97297
Ppoma	Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch...	ORPHA:97278
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypotension, Chronic nonin...	ORPHA:100079
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Glucagonoma	Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, No...	ORPHA:97280
Fanconi Anemia	Reduced bone mineral density, Meckel diverticulum, Tracheoesophageal fistula, Hypogonadism, Umbil...	ORPHA:84
Non-Specific Early-Onset Epileptic Encephalopathy	Limb hypertonia, Abnormal myelination	ORPHA:442835
Congenital Tracheomalacia	Pulmonary arterial hypertension, Abnormal heart morphology, Tetralogy of Fallot, Partial anomalou...	ORPHA:95430
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Hypophosphatemic rickets, Osteomalacia, Hypertension, Weak...	ORPHA:51608
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Ventricular septal defect	OMIM:614653
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Glutaryl-Coa Dehydrogenase Deficiency	Retinal hemorrhage, Subdural hemorrhage, Fasting hypoglycemia	ORPHA:25
Thrombocytopenia-Absent Radius Syndrome	Anemia, Decreased circulating antibody level, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly,...	OMIM:274000
Trisomy 8P	Abnormal left ventricle morphology, Multiple joint contractures, Dysplastic aortic valve, Constip...	ORPHA:264450
Grfoma	Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch...	ORPHA:97261
Dextrocardia	Situs inversus totalis, Dextrocardia, Meckel diverticulum, Intestinal malrotation, Abnormal heart...	ORPHA:1666
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Congestive heart failure, Osteopenia, Aortic regurgitation, Inguina...	ORPHA:90348
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration	ORPHA:101096
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Addictive behavior, Bowel incontinence, Abnormal duodenum morphology...	ORPHA:512
Central Retinal Vein Occlusion	Retinal neovascularization, Intraretinal hemorrhage	ORPHA:411527
Incontinentia Pigmenti	Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,...	ORPHA:464
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Viss Syndrome	Chronic diarrhea, Coronary sinus enlargement, Intestinal malrotation, Malposition of the stomach,...	OMIM:619472
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy	OMIM:618154
Charge Syndrome	Anosmia, Choanal atresia, Ptosis, Abnormal palmar dermatoglyphics, Downslanted palpebral fissures...	OMIM:214800
Autosomal Recessive Cutis Laxa Type 1	Congestive heart failure, Inguinal hernia, Abnormal cardiac ventricular function, Pyloric stenosi...	ORPHA:90349
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Maternal diabetes, Meckel diverticulum, Abnormal heart...	ORPHA:1708
Fructose Intolerance, Hereditary	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating hepatic tran...	OMIM:229600
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Patent Urachus	Recurrent urinary tract infections, Recurrent gram-negative bacterial infections	ORPHA:431341
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration	ORPHA:69665
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Congenital hypothyroidism, Neutropenia	OMIM:271510
Cockayne Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertension, Retinal hemo...	ORPHA:191
Tarp Syndrome	Glossoptosis, Failure to thrive, Cleft palate, Tetralogy of Fallot, Abnormal duodenum morphology,...	ORPHA:2886
Granulomatosis With Polyangiitis	Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Granulomatosis	OMIM:608710
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Abnormal B cell morphology, Hypoparathyroi...	OMIM:618223
Fryns Syndrome	Large for gestational age, Aganglionic megacolon, Esophageal atresia, Duodenal atresia, Meckel di...	OMIM:229850
Familial Drusen	Macular hemorrhage	ORPHA:75376
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Gastroparesis, Gastroesophageal reflux, Optic nerve hypoplasia, Chronic diarrhea, ...	ORPHA:500150
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Corneal pterygium, Symblepharon	OMIM:245660
Retinoblastoma	Vitreous hemorrhage, Leukemia	OMIM:180200
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Brown pigm...	OMIM:203500
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Recurrent bacterial infections	ORPHA:99104
Wolf-Hirschhorn Syndrome	Abnormal sternal ossification, Gastroesophageal reflux, Severe postnatal growth retardation, Prec...	OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Meckel diverticulum, Cardiomyopathy, Pulmonic s...	OMIM:312870
Yunis-Varon Syndrome	Absent sternal ossification, Hypertension, Cardiomyopathy, Decreased skull ossification, Pulmonar...	ORPHA:3472
Down Syndrome	Atrioventricular canal defect, Aganglionic megacolon, Patent foramen ovale, Ebstein anomaly of th...	OMIM:190685
Fumarase Deficiency	Anteverted nares, Necrotizing enterocolitis, Depressed nasal bridge, Conjunctival icterus	OMIM:606812
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Recurrent bacterial infections	ORPHA:99103
Sponastrime Dysplasia	Decreased circulating antibody level, Microcoria, Hypothyroidism, Small for gestational age, Neut...	ORPHA:93357
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
Incontinentia Pigmenti	Eosinophilia, Leukocytosis, Retinal hemorrhage	OMIM:308300
Fraser Syndrome 1	Abnormal heart morphology, Cleft palate, Abnormal thymus morphology, Abnormality of the anus, Abn...	OMIM:219000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Episodic vomiting, Decreased circulating antibody level, Bowel incontinenc...	ORPHA:261537
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Thrombocytopenia, Giant platelets	OMIM:608404
Singleton-Merten Syndrome 1	Osteopenia, Congestive heart failure, Osteolytic defects of the phalanges of the hand, Mitral val...	OMIM:182250
Mowat-Wilson Syndrome	Aganglionic megacolon, Decreased circulating antibody level, Decreased body weight, Bowel inconti...	ORPHA:2152
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Corneal neovascularization, Facial hypotonia, Corneal scarring, Delayed myelination, Achilles ten...	ORPHA:404454
Sarcoidosis	Enlarged lacrimal glands, Maculopapular exanthema, Abnormal nasal mucosa morphology, Erythema nod...	ORPHA:797
Dural Sinus Malformation	Chemosis	ORPHA:97339
Congenital Tracheal Stenosis	Duodenal atresia, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Tracheoesophag...	ORPHA:141127
Trichinellosis	Retinal hemorrhage	ORPHA:863
Genitopatellar Syndrome	Anal stenosis, Anal atresia, Hypothyroidism, Hip contracture, Dysphagia, Knee flexion contracture...	OMIM:606170
Hereditary Sensory And Autonomic Neuropathy Type 4	Neuropathic arthropathy, Recurrent Staphylococcus aureus infections, Corneal ulceration, Corneal ...	ORPHA:642
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Conjunctival whitish salt-like deposits	OMIM:211900
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Degcags Syndrome	Pulmonary arterial hypertension, Pulmonic stenosis, Abnormal myelination, Diaphragmatic eventrati...	OMIM:619488
Pierson Syndrome	Hypertension, Retinal hemorrhage	OMIM:609049
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Retinal hemorrhage, Cerebral hemorrhage, Hemolytic a...	OMIM:175780
Sympathetic Ophthalmia	Retinal hemorrhage	ORPHA:79098
Orofaciodigital Syndrome Type 14	Periventricular heterotopia, Abnormal myelination	ORPHA:434179
Paroxysmal Nocturnal Hemoglobinuria	Conjunctival icterus	ORPHA:447

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Testis - MPATH pathological process term hyperplasia	Cd36^em1(IMPC)Mbp	HOM	Early adult
Testis - MPATH pathological process term growth arrest	Cd36^em1(IMPC)Mbp	HOM	Late adult
Testis - MPATH pathological process term hyperplasia	Cd36^em1(IMPC)Mbp	HOM	Late adult
Epididymis - MPATH pathological process term hypospermia	Cd36^em1(IMPC)Mbp	HOM	Late adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cd36.

No publications found that use IMPC mice or data for Cd36.

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
Cd36^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Cd36^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Cd36^{tm1a(EUCOMM)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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Cd36 MGI:107899

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Histopathology

Human diseases caused by Cd36 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data