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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
decreased circulating triglyceride level	Cd36^em1(IMPC)Mbp	HOM	Late adult	1.05×10^-07
increased heart weight	Cd36^em1(IMPC)Mbp	HOM	Late adult	5.63×10^-06
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 spleen morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged liver	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal brain morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal bone structure	Cd36^em1(IMPC)Mbp	HOM	Late adult	1.05×10^-10
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
abnormal liver morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Cd36^em1(IMPC)Mbp	HOM	Late adult	0.00

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Histopathology

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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 (1452 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, Giant platelets, Thrombocytopenia	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	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Myocardial infarction, Sudden cardiac death, Os...	OMIM:610947
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ...	ORPHA:71529
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Postnatal growth ...	OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia	OMIM:608320
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega...	ORPHA:435660
Immunodeficiency 46	Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Chronic oral ca...	OMIM:616740
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Hypothyroidism, Congenital, Nongoitrous, 8	Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu...	OMIM:301033
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Pterygium, Antecubital	Limited elbow extension, Posterior subluxation of radial head, Antecubital pterygium	OMIM:178200
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce...	OMIM:610717
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:608600
Immunodeficiency 66	Defective T cell proliferation, Meningitis, Sepsis	OMIM:618847
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Vomitin...	ORPHA:71212
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr...	OMIM:619855
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia, Hypoglycemia, Short stature	ORPHA:366
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu...	OMIM:300400
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropathy,...	OMIM:615863
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Increased intraabdominal fat, Muscle hypertrophy of the ...	ORPHA:280365
Radial Heads, Posterior Dislocation Of	Posterior radial head dislocation, Limited elbow extension, Antecubital pterygium	OMIM:179200
Reticular Dysgenesis	Lack of T cell function, Sepsis, Impaired T cell function	OMIM:267500
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Growth delay, High palate, Overfriendliness	OMIM:618010
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Hepatosple...	OMIM:619924
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Abnormal natura...	OMIM:613101
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:612692
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Immunodeficiency 102	Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti...	OMIM:301082
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro...	OMIM:618944
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea...	OMIM:618969
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co...	OMIM:240500
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet...	ORPHA:488650
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal...	ORPHA:528
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Secundum atrial septal defect, Recurrent upper respiratory tract infe...	OMIM:614868
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis	OMIM:619599
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Obesity, Hyp...	ORPHA:66628
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:613502
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Obesity, Hyp...	ORPHA:179494
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Bullous Impetigo	Recurrent bacterial skin infections, Sepsis	ORPHA:36237
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low ...	OMIM:618987
Lipase Deficiency, Combined	Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus	OMIM:246650
Sitosterolemia 2	Hypercholesterolemia, Tendon xanthomatosis, Elevated circulating sitosterol concentration	OMIM:618666
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t...	OMIM:607594
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Abnormal immunoglobulin level, Increased T cell count, Increased circulating I...	ORPHA:98813
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio...	OMIM:608184
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Elevated circulating creatine kinase concentration, Flexion contracture, Hepatomegaly...	OMIM:613327
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abnormal T cell count, Abnormal B...	ORPHA:331206
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol concentration, Hypercholesterolem...	ORPHA:79506
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea	OMIM:618752
Reticular Dysgenesis	Recurrent respiratory infections, Sepsis, Decreased circulating antibody level	ORPHA:33355
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Decreased cir...	OMIM:619281
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium	OMIM:619339
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Abnormal immunoglobulin level, Severe recu...	ORPHA:276
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Diarrhea, Esophageal var...	ORPHA:75234
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit...	OMIM:613501
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level	OMIM:235550
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th...	OMIM:612714
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Me...	OMIM:308230
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Temple Syndrome	Hypertriglyceridemia, Short stature, Small for gestational age, Maturity-onset diabetes of the yo...	OMIM:616222
Lymphoproliferative Syndrome 2	Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Recurrent infec...	OMIM:615122
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased c...	OMIM:620210
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Acholic stools, Hypoalb...	OMIM:619868
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c...	ORPHA:158061
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroi...	ORPHA:90065
Leber Congenital Amaurosis 10	Hyposmia	OMIM:611755
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Short stature, Abnormality of the thyroid gland, Velopharyng...	OMIM:182290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:615381
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Growth delay, Hyperuricemia, Hype...	OMIM:306000
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Macular atrop...	OMIM:619418
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Failure to thrive in infancy, Chronic diarrhea, Decreased circulating total IgM, T l...	OMIM:619510
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98855
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H...	ORPHA:540
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli...	ORPHA:1667
D-Glyceric Aciduria	Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Nonketotic hyperglycinemi...	ORPHA:941
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteopo...	ORPHA:77296
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM...	OMIM:618394
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Tendon xanthomatosis, Hypertriglyceridemia, Decreased LDL cholesterol conce...	OMIM:603813
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Alg1-Cdg	Renal insufficiency, Sepsis, Recurrent infections, Abnormal heart morphology, Nephrotic syndrome,...	ORPHA:79327
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ...	ORPHA:254531
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Hypert...	ORPHA:79083
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase	OMIM:242880
Neonatal Alloimmune Neutropenia	Severe infection, Meningitis, Sepsis	ORPHA:464370
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys...	ORPHA:464329
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A...	ORPHA:178320
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Short stature, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Pol...	ORPHA:329249
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Galactokinase Deficiency	Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Small for gestational age, Hyperinsul...	ORPHA:79237
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Highly arched eyebrow, Synophrys, Anosmia, Blepharophimosis, Thick eyebrow, Ptosis	ORPHA:2057
Bartsocas-Papas Syndrome	Corneal opacity, Underdeveloped nasal alae, Ankyloblepharon, Sparse or absent eyelashes, Eyelid c...	ORPHA:1234
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypoplastic anemia, Hep...	OMIM:557000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopeni...	OMIM:614069
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98853
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hypoglycemia, Hepatomegaly	OMIM:609016
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Insulin resistance, Insulin-re...	ORPHA:79086
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, High palate, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystro...	OMIM:248370
X-Linked Emery-Dreifuss Muscular Dystrophy	Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp...	ORPHA:98863
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia...	ORPHA:79240
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Ulcerative colitis, Decreased ci...	OMIM:617638
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Exocrine pancreatic insuffic...	ORPHA:309108
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Galactose Mutarotase Deficiency	Sepsis	ORPHA:570422
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Pancytopenia, Re...	OMIM:603553
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Recurrent upper respiratory tract infections, Sepsis, Decreased circulating antibody level, Decre...	OMIM:616100
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia	OMIM:615266
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, In...	OMIM:300755
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Hypoglycemia, Short stature, Hyperlipidemia, Osteoporosis, Growth delay...	ORPHA:369
Immunodeficiency, Common Variable, 14	Chronic diarrhea, Decreased proportion of class-switched memory B cells, Decreased circulating to...	OMIM:617765
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Decreased circulating antibody level	ORPHA:2572
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Small for gestational age, Maturity-onset diabetes of the young, Precocious pubert...	ORPHA:96184
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:247585
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ...	ORPHA:71
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro...	ORPHA:331235
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Otoonychoperoneal Syndrome	Upslanted palpebral fissure, Popliteal pterygium, Knee flexion contracture	ORPHA:2793
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Splenomegaly, Thr...	OMIM:617591
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase c...	OMIM:615980
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Atrophic gastr...	OMIM:614700
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ...	OMIM:178110
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Sple...	ORPHA:79301
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Distal amyotrophy, Distal lower limb muscle weakness, Hypoalbuminemia	ORPHA:94124
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Re...	OMIM:613779
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in...	OMIM:618986
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Retinal dystrophy, Aplastic anemia, Pancreat...	OMIM:617052
Autosomal Recessive Omodysplasia	Depressed nasal bridge, Anteverted nares, Craniosynostosis, Elbow dislocation, Pterygium, Short nose	ORPHA:93329
Seckel Syndrome 10	Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglo...	OMIM:617253
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Failure to thrive, Panhypo...	OMIM:269840
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ...	ORPHA:183675
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Chronic diarrhea, Decreased circulating antibody level, Weight ...	ORPHA:90362
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia	OMIM:615271
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Immunodeficiency 22	Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Protracted diarrhea, Retinal vasculitis, ...	OMIM:615758
Spondylospinal Thoracic Dysostosis	Multiple pterygia	OMIM:601809
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Diarrhea, Vomiting, Failure to thrive, Hypoketotic h...	OMIM:610768
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion contracture, Knee ...	OMIM:259450
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Wide nose, Skin rash, Craniosynostosis, Recurrent pneumonia, ...	OMIM:147060
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Meningitis, Invasive fungal infection, Severe infection, Seve...	ORPHA:83471
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest...	OMIM:260400
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Meningitis	ORPHA:33110
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Fused cervical vertebrae	OMIM:618469
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Congenital Disorder Of Glycosylation, Type Iio	Skeletal muscle atrophy, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevate...	OMIM:616828
C1Q Deficiency 2	Recurrent otitis media, Recurrent lower respiratory tract infections, Sepsis, Pneumocystis carini...	OMIM:620321
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Synophrys, Anosmia, Wide nasal bridge, Blepharophimosis, Thick eyebrow, Ptosis	OMIM:210745
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, Prolonged prothrombin time, ...	OMIM:617941
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Laron Syndrome	Severe short stature, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed...	ORPHA:633
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Recurrent viral infections, Increased circulating IgA level, Increased circulati...	ORPHA:169154
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he...	ORPHA:572
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja...	ORPHA:444490
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Short stature, Overweight, Dilated cardiomyopathy, R...	ORPHA:401923
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Hepatospl...	OMIM:619013
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa...	OMIM:235200
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Failure to thrive, Goiter, Delay...	ORPHA:90674
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections	OMIM:607624
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia	OMIM:607250
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia, Facial palsy	OMIM:182410
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Weight loss, Increased circul...	OMIM:209950
Bruck Syndrome 2	Wormian bones, Pterygium, Elbow flexion contracture, Knee flexion contracture	OMIM:609220
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent...	OMIM:232400
Lichen Planopilaris	Pterygium, Hepatitis	ORPHA:525
Cernunnos-Xlf Deficiency	Recurrent viral infections, Bulbous nose, Decreased circulating antibody level, Recurrent bacteri...	ORPHA:169079
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Proteinuria, Sepsis, Hematuria, Nephritis	OMIM:614034
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris	OMIM:614025
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla...	OMIM:275350
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Camptodactyly of finger, Multiple pterygia, Abnormal eyelid morphology, ...	ORPHA:2990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Lym...	OMIM:102700
Chylomicron Retention Disease	Failure to thrive, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased...	OMIM:246700
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Lymphopenia, Severe B lymphocytopenia, Portal hy...	OMIM:620005
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy...	OMIM:203800
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis	OMIM:617475
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Decreased circulating ...	OMIM:256500
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg...	OMIM:617514
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Iron defi...	OMIM:269200
Gorlin Syndrome	Vertebral fusion, Epicanthus, Telecanthus, Cataract, Palmar pits, Plantar pits, Wide nasal bridge...	ORPHA:377
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Epicanthus, Pterygium, Multiple pterygia	OMIM:177980
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Growth delay, Intermittent diarrhea, Hyperchole...	ORPHA:263501
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Phaver Syndrome	Epicanthus, Depressed nasal bridge, Camptodactyly of finger, Radioulnar synostosis, Pterygium, Do...	ORPHA:2876
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride...	OMIM:608594
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Meningitis, Sepsis	ORPHA:229717
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ...	OMIM:614699
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ...	ORPHA:1333
Multiple Pterygium Syndrome, Escobar Variant	Ptosis, Epicanthus, Bilateral ptosis, Dysplastic patella, Patellar aplasia, Hip dislocation, Neck...	OMIM:265000
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Diarrhea, Permanent atrial fibrillati...	ORPHA:31825
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Recurrent bacterial infections	OMIM:245480
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Anorexia, Diarrhea, Hepatitis, Hepatosplenomegaly, Protracted diarrhea...	ORPHA:169160
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Intestinal obstruction, Reduced circulating transf...	ORPHA:90363
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hepatomegaly, Hypertriglyceride...	OMIM:269700
Ulnar Hemimelia	Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec...	ORPHA:93320
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Epicanthus, Multiple pterygia, Depressed nasal ridge	OMIM:312150
Scedosporiosis	Unusual skin infection, Pericarditis, Invasive fungal infection, Fungal meningitis, Severe infect...	ORPHA:449280
Pancreatic Agenesis 2	Diabetes mellitus, Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypopla...	OMIM:615935
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec...	OMIM:613496
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower...	ORPHA:882
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Osteo...	ORPHA:464321
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Hemolytic anemia, Hepatic failure	OMIM:177000
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:614876
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Agammaglobulinemia, Meningitis	ORPHA:47
Immunodeficiency 15B	Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decrease...	OMIM:615592
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Failure to thrive, Small for gestational age, Hypoglycemia, Decreased circula...	OMIM:607143
Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentr...	OMIM:277700
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Depressed nasal bridge, Anosmia, Short nose, Short nasal septum	OMIM:302950
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A...	ORPHA:412
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Sepsis	ORPHA:289916
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:146110
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated lympho...	OMIM:269920
Bruck Syndrome	Wormian bones, Pterygium	ORPHA:2771
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati...	ORPHA:167
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell	ORPHA:1135
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Short stature, Malabsorption, Abnormal ca...	ORPHA:168569
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Cholecystitis, Ecchymosis, I...	ORPHA:99827
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Epicanthus, Multiple pterygia, Depressed nasal ridge	OMIM:253290
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
Fetal Akinesia Deformation Sequence	Pterygium, Depressed nasal bridge, Camptodactyly of finger, Absent palmar crease	ORPHA:994
Sporadic Creutzfeldt-Jakob Disease	Sepsis, Recurrent infections	ORPHA:204
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:158048
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Failure to thrive in infancy, Precocious puberty, Hypothyroi...	ORPHA:819
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec...	ORPHA:169090
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul...	ORPHA:3261
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Hepatomegaly, Failure to thrive, Diabetes mellitus, Fa...	ORPHA:456312
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop...	OMIM:615767
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage	ORPHA:1980
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Sepsis	OMIM:619059
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Episodic vomiting	OMIM:618973
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary infections, Recurrent p...	OMIM:617303
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Felty Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Pericarditis, Recurrent pha...	ORPHA:47612
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Eczema, Sclerocornea, Iris hypopigmentation, Camptodactyly...	ORPHA:284160
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat...	OMIM:618261
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased c...	OMIM:603909
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropathy, S...	OMIM:602579
Desmoid Tumor	Hydronephrosis, Sepsis	ORPHA:873
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Depressed nasal bridge, Downslanted palpebral fissures, Patellar hypoplasia	OMIM:119800
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,...	ORPHA:615
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Growth delay, Hypoalbuminemia, Hypercholes...	ORPHA:567548
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Hypothyroidism, Hepatomeg...	ORPHA:79259
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges...	OMIM:212140
Acitretin/Etretinate Embryopathy	Epicanthus, Anteverted nares, Antecubital pterygium, Hypoplastic nasal septum	ORPHA:40366
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ataxia-Telangiectasia	Elevated hepatic transaminase, Failure to thrive, Diabetes mellitus, Decreased circulating antibo...	ORPHA:100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrh...	OMIM:616263
Mogs-Cdg	Absent brainstem auditory responses, Hepatomegaly, Optic atrophy, Decreased circulating antibody ...	ORPHA:79330
Alagille Syndrome 1	Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,...	OMIM:118450
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Immunodeficiency, Common Variable, 10	Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc...	OMIM:615577
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca...	ORPHA:860
Johanson-Blizzard Syndrome	Diabetes mellitus, Abnormality of the pancreas, Failure to thrive, Hypoproteinemia, Anemia, Exocr...	ORPHA:2315
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer...	OMIM:619048
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Decreased circulating t...	OMIM:619774
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Optic nerve compression, Splenomegaly, Optic atrophy, Anemia, Decreased circulating...	OMIM:612301
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
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Sclerotic cranial sutures, Abnormality of the orbital region, Arthritis, Carpal oste...	ORPHA:371428
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in...	OMIM:615237
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Protein-losing enteropa...	ORPHA:79319
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Elevated circulating alkaline phosphatase concentra...	OMIM:618268
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Optic nerve hypoplasia, Diarrhea, Abn...	ORPHA:221139
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2070
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat...	OMIM:613313
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur...	OMIM:613291
Lassa Fever	Increased circulating IgM level, Sepsis, Oliguria	ORPHA:99824
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Glucose intolerance, Vomiting, Lower limb muscle weakness, Decre...	OMIM:606721
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm...	OMIM:601859
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Gastroesophageal reflux, Type I diabetes mellitus, Failure to thrive,...	ORPHA:251009
Thumb Agenesis, Short Stature, And Immunodeficiency	Anosmia	OMIM:274190
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Hyponatremia, Hepatomegaly, Retinal pigment ...	OMIM:219800
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Bifid nose	OMIM:614838
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia	ORPHA:67046
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of...	ORPHA:93111
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse eyelashes, Nasolacrimal duct obstruction, Palmoplantar hyperkeratosis, Bone marrow hypocel...	OMIM:224230
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Vomiting, I...	OMIM:238600
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Adrenal insufficiency, Lymphopenia, Hypothyr...	OMIM:617575
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Cataract, Wide nasal bridge	OMIM:224410
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Small fo...	ORPHA:125
Musk, Inability To Smell	Anosmia	OMIM:254150
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Diarrhea, Thyroiditis, Weight loss, Iron defici...	OMIM:212750
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Peptic ulcer, Myocardial infarction, Angina pectoris, Ov...	ORPHA:90041
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi...	ORPHA:324575
Posttransplant Acute Limbic Encephalitis	Sepsis	ORPHA:163921
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Increased circulating IgE level, Recurrent upper respiratory tract infections, Sepsis, BCGitis, P...	OMIM:602450
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Underdeveloped nasal ala...	OMIM:263650
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hyposmia	OMIM:613724
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Rauch-Steindl Syndrome	Hepatomegaly, Hyperactivity, Aggressive behavior, Chronic constipation, Failure to thrive, Abnorm...	OMIM:619695
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:411593
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I...	OMIM:615285
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ...	ORPHA:261476
Hirschsprung Disease	Sepsis	ORPHA:388
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:616873
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, P...	ORPHA:276580
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Anosmia, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis...	OMIM:244400
Lambert Syndrome	Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody level, Intrah...	ORPHA:1296
Nephrotic Syndrome, Type 11	Ventricular septal defect, Dilated cardiomyopathy, Cleft palate, High palate, Hypoalbuminemia, Hy...	OMIM:616730
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem...	OMIM:610984
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level...	ORPHA:397596
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Recurrent pharyngitis, Myocarditis, Sepsis, Endoc...	ORPHA:549
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b...	ORPHA:2688
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:618048
Aural Atresia, Congenital	Hyposmia	OMIM:607842
Immunodeficiency 12	Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,...	OMIM:615468
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Multiple Symmetric Lipomatosis	Hepatomegaly, Insulin resistance	ORPHA:2398
Nail-Patella Syndrome	Abnormality of the knee, Lester's sign, Contracture of the distal interphalangeal joint of the fi...	ORPHA:2614
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating total IgM, Gastroesophageal reflux, Dyspha...	OMIM:620040
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail...	ORPHA:139507
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex...	ORPHA:507
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Hypoglycemia, Short stature, Hyperglycerolemia, ...	OMIM:307030
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia	ORPHA:100024
Pgm3-Cdg	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Recurrent viral infec...	ORPHA:443811
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Elevated circulating thyroid-stimulatin...	OMIM:618183
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr...	OMIM:619573
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Telecanthus, Synophrys, Anosmia, Genu valgum, Abnormal nostril morphology, Short nose	ORPHA:1295
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density	ORPHA:172
Neuhauser Syndrome	Osteopenia, Short stature, High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, ...	OMIM:249310
Peroxisome Biogenesis Disorder 9B	Cataract, Anosmia, Total anosmia	OMIM:614879
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Apnea, Obstructive Sleep	Anosmia	OMIM:107650
Alg12-Cdg	Hyponatremia, Retinal detachment, Elevated hepatic transaminase, Abnormal circulating enzyme conc...	ORPHA:79324
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Meckel Syndrome 12	Wide nasal bridge, Anteverted nares, Antecubital pterygium	OMIM:616258
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of class-switched...	OMIM:619652
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased circulating total IgM, Type II diab...	OMIM:210900
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Neonatal sepsis, 3-Methylglutaconic aciduria, Recurrent infections	OMIM:614739
Lamellar Ichthyosis	Recurrent respiratory infections, Renal insufficiency, Sepsis	ORPHA:313
Immunodeficiency 57 With Autoinflammation	Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, T lymphocytopenia, I...	OMIM:618108
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c...	OMIM:617241
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Decreased circulating total IgM, Elevated cir...	OMIM:602668
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Short stature, Hand muscle weakness, Fatty...	ORPHA:98908
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, Fastin...	ORPHA:276575
Calciphylaxis	Stage 5 chronic kidney disease, Sepsis	ORPHA:280062
Galloway-Mowat Syndrome 7	Ventricular septal defect, Short stature, Dilated cardiomyopathy, Cleft palate, High palate, Hype...	OMIM:618348
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Diarrhea, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infectio...	OMIM:601457
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Glucose intolerance,...	OMIM:606069
Nail-Patella Syndrome	Keratoconus, Lester's sign, Cataract, Glomerulonephritis, Patellar aplasia, Antecubital pterygium...	OMIM:161200
Retinopathy Of Prematurity	Vitreous hemorrhage	ORPHA:90050
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Omodysplasia 1	Epicanthus, Depressed nasal bridge, Blepharophimosis, Limited knee flexion, Wide nasal bridge, Li...	OMIM:258315
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Hamamy Syndrome	Telecanthus, Sparse eyelashes, Anteverted nares, Craniosynostosis, Sparse eyebrow, Neck pterygia,...	OMIM:611174
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi...	OMIM:617780
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni...	ORPHA:911
Immunodeficiency 43	Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab...	OMIM:241600
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ...	ORPHA:276556
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Short stature	ORPHA:364
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Obesity, Low alkaline phosphatase, Decre...	ORPHA:369837
Deeah Syndrome	Hepatomegaly, Decreased hemoglobin concentration, Decreased response to growth hormone stimulatio...	OMIM:619004
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Anosmia	OMIM:615270
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Chorioretinal coloboma, Decreased circulating antibody level	ORPHA:1116
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d...	ORPHA:79474
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left at...	ORPHA:57777
Immunodeficiency 68	Sepsis, Recurrent meningitis	OMIM:612260
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Distal amyotrophy, Hypoalbuminemia, Elevated circulating creatine kinase co...	OMIM:208920
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Silver-Russell Syndrome 3	Antecubital pterygium	OMIM:616489
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas...	OMIM:617744
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive...	OMIM:256040
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Sepsis, Abnorm...	ORPHA:505248
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria	OMIM:252920
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Villous atrophy, Hypogonadotropic hypogonadism, Malabsorpti...	OMIM:600955
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thrive in infancy, Decreased lymphocyte...	OMIM:606367
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Glucose intolerance, Cirrhosis, Glycosuria, Failure to thrive, Exocrine ...	OMIM:616539
Griscelli Syndrome Type 1	Hyperlipidemia, Retinopathy, Iris hypopigmentation	ORPHA:79476
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:612702
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Overweight, Obesity, Hypertension, Neoplasm of the liver, Hepatocellular carci...	ORPHA:69663
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis	ORPHA:231154
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Excessive bleeding after a venipuncture, Myocarditis, Fulmi...	ORPHA:319213
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease...	OMIM:300853
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Congestiv...	ORPHA:363618
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Congenital Enterovirus Infection	Pericardial effusion, Meningitis, Myocarditis, Sepsis, Cardiomyopathy, Infectious encephalitis	ORPHA:292
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:610628
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Axillary pterygium, Ectropion	OMIM:226730
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Anosmia	OMIM:614858
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:231393
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ...	OMIM:616005
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, ...	OMIM:212065
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Atrial septal defect, Double outlet right ventricle, Sepsis	OMIM:614886
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia	ORPHA:721
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Elevated cir...	OMIM:614576
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Wide nasal bridge, Developmental cataract	ORPHA:1865
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Short stature, Ketotic hypoglycemia, Hyperlipidemia, G...	ORPHA:2089
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly, Diarrhea, Incre...	OMIM:618495
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Xq28 (MECP2) duplication	Constipation, Gastroesophageal reflux, Dysphagia, Failure to thrive, Abnormal repetitive manneris...	DECIPHER:45
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Hypoglycemia, Hepatomegaly	ORPHA:35
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Elevated hepatic transaminase, Cardiomegaly	OMIM:619064
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Anosmia	OMIM:615267
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Hyposmia, Anosmia, Choanal atresia, Iris coloboma	OMIM:147950
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Colitis, Dec...	OMIM:617006
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Anosmia	OMIM:612370
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Entropion, Flat nasal alae, Keratitis, Ankyloblepharon, Op...	ORPHA:910
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Hypertriglyceridemia, Short stature, Obesity, Myopathy, Cardiomyopathy, Shoulder gi...	ORPHA:98907
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph...	ORPHA:448237
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypertension, Hepatic stea...	ORPHA:79084
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Hypercholanemia, Familial 1	Rickets, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:607748
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension	OMIM:121300
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Abnormality of the sense of smell	ORPHA:3201
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ...	ORPHA:51636
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Diabetes mellitus, Abnormal cardiac ve...	ORPHA:439232
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Johnson Neuroectodermal Syndrome	Absent eyebrow, Choanal atresia, Absent eyelashes, Bulbous nose, Anosmia, Downslanted palpebral f...	ORPHA:2316
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel...	ORPHA:465508
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Sepsis	ORPHA:544503
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Weight loss, Iron deficiency anemia, Colitis, Steatorrhea, Exocrine pancreatic insuffic...	ORPHA:309031
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Classic Galactosemia	Sepsis	ORPHA:79239
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Hypothyroidism, High palate, Hypercholesterolemia, Abnormal repetitive...	ORPHA:2479
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Rickets, Steatorrhea, Acholi...	OMIM:607765
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Sepsis, Recurrent infections	ORPHA:764
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Diarrhea, Elevated circulating creatinine concentration, Perimembranous ventricular...	OMIM:608104
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti...	OMIM:253250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular necrosi...	OMIM:201475
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Anosmia, Genu valgum	OMIM:614880
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat...	OMIM:619662
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia	ORPHA:37748
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrin...	OMIM:260370
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Megacystis, Sepsis	OMIM:619362
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Pneumonia, Impaired T cell function, Recurrent vir...	OMIM:613179
Bardet-Biedl Syndrome 19	Hyposmia	OMIM:615996
Marcus-Gunn Syndrome	Unilateral ptosis, Choanal atresia, Abnormality of the sense of smell	ORPHA:91412
Glycogen Storage Disease Ia	Hepatomegaly, Decreased muscle mass, Hypoglycemia, Short stature, Hyperlipidemia, Osteoporosis, G...	OMIM:232200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Megacystis, Sepsis	ORPHA:2241
Marburg Hemorrhagic Fever	Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, Reticulocytos...	ORPHA:99826
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ...	OMIM:219700
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Leukopenia, Vomiting, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
Ebola Hemorrhagic Fever	Increased circulating antibody level, Sepsis	ORPHA:319218
Neu-Laxova Syndrome	Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m...	ORPHA:2671
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia	OMIM:261750
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium	OMIM:225790
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis	OMIM:609536
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Roifman Syndrome	Retinal dystrophy, Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level, Decrea...	ORPHA:353298
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent viral infections, Recurrent pharyngitis, Recurrent upper respiratory tract infections, ...	ORPHA:293978
Alg6-Cdg	Puberty and gonadal disorders, Decreased LDL cholesterol concentration, Increased circulating and...	ORPHA:79320
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent...	ORPHA:42
Immunodeficiency 67	Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf...	OMIM:607676
Meningococcal Meningitis	Renal insufficiency, Infectious encephalitis, Sepsis	ORPHA:33475
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Hyposmia, Corneal ulceration, Recurrent skin infections, Corneal scarring	OMIM:616488
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:244200
Infant Acute Respiratory Distress Syndrome	Sepsis	ORPHA:70587
Endove Syndrome, Limb-Only Type	Neonatal sepsis, Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Osteoporosis, Macrovesicu...	OMIM:618234
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Small for gestational age, Macronodular cirrhosis, Decreased circulat...	OMIM:215250
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy, Pu...	OMIM:619433
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Aplastic anemia, Pancyt...	ORPHA:398124
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly	ORPHA:88643
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase, Proximal amyotrophy	OMIM:604484
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Cor triatr...	OMIM:612541
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Acquired Purpura Fulminans	Sepsis	ORPHA:49566
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Hypertrophic...	OMIM:246900
Cyclic Neutropenia	Opportunistic infection, Severe infection, Recurrent tonsillitis, Sepsis	ORPHA:2686
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal...	OMIM:211600
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection...	ORPHA:486
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Osteoporosis, Increase...	OMIM:615830
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
X-Linked Lissencephaly With Abnormal Genitalia	Hypohidrosis, Aganglionic megacolon, Exocrine pancreatic insufficiency	ORPHA:452
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, Ty...	OMIM:618549
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,...	OMIM:277460
Hyperostosis Cranialis Interna	Hyposmia, Anosmia	OMIM:144755
Carnitine Palmitoyl Transferase 1A Deficiency	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Transient hyperlipidem...	ORPHA:156
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Autosomal Recessive Spastic Paraplegia Type 57	Distal lower limb amyotrophy, Abnormality of the Achilles tendon, Abnormal myelination	ORPHA:431329
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Tricuspid regurgitati...	OMIM:619127
Tibial Aplasia-Ectrodactyly Syndrome	Popliteal pterygium, Patellar aplasia	ORPHA:3329
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema	OMIM:300299
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urinary bladder inflammation, Pterygium, Recurrent skin infections, Ectropion	ORPHA:79403
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab...	OMIM:137920
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Boutonneuse Fever	Elevated hepatic transaminase, Diarrhea, Increased circulating IgG level, Increased circulating I...	ORPHA:83313
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Extramedull...	ORPHA:79303
Ventilator-Induced Diaphragmatic Dysfunction	Severe infection, Sepsis	ORPHA:505395
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertensio...	ORPHA:64743
Craniofrontonasal Syndrome	Telecanthus, Bifid nasal tip, Wide nasal bridge, Hypoplastic nasal tip, Coronal craniosynostosis,...	OMIM:304110
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu...	OMIM:616098
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Widened atrophic scar, Long uv...	ORPHA:536532
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Prolonged QRS complex, Decreased response...	ORPHA:273
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Inhalational Anthrax	Sepsis	ORPHA:247257
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperactivity, Ventricular septal defect, Craniosynostosis, Precocious pube...	ORPHA:254346
Huntington Disease	Abnormality of the sense of smell	ORPHA:399
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Choanal atresia, Ankyloblepharon	ORPHA:1300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Malabsorption, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polyposis, H...	OMIM:175500
Cystic Fibrosis	Elevated hepatic transaminase, Meconium ileus, Abnormality of the liver, Gastroesophageal reflux,...	ORPHA:586
Omenn Syndrome	Nephrotic syndrome, Sepsis	ORPHA:39041
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Hemophagocytosis, Neutropenia...	ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt...	ORPHA:77259
Hypercholesterolemia, Familial, 3	Xanthelasma, Tendon xanthomatosis, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Cardiac arrest	ORPHA:77260
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Maternal Uniparental Disomy Of Chromosome 4	Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent...	ORPHA:96180
Amyloidosis, Familial Visceral	Splenomegaly, Hypertension, Cholestasis, Hepatomegaly	OMIM:105200
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Sepsis, Recurrent bacterial infections, Micropha...	OMIM:617053
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Bacterial Toxic-Shock Syndrome	Recurrent urinary tract infections, Renal insufficiency, Glomerulonephritis, Severe varicella zos...	ORPHA:36234
Refsum Disease, Classic	Cataract, Anosmia, Ptosis	OMIM:266500
Autosomal Recessive Spastic Paraplegia Type 67	Generalized amyotrophy, Abnormal myelination	ORPHA:401820
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorrhage, He...	ORPHA:509
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellu...	OMIM:301078
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Craniosynostosis, Hip dislocation, Antecubital pterygium, Patellar hypoplasia, Knee f...	OMIM:609945
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Focal Segmental Glomerulosclerosis 1	Hypertension, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Splenomegaly, Thrombocytopenia, An...	OMIM:611490
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia ...	ORPHA:75564
Rift Valley Fever	Elevated hepatic transaminase, Retinitis, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Reti...	ORPHA:319251
Hemorrhagic Fever-Renal Syndrome	Shock, Elevated hepatic transaminase, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leuk...	ORPHA:340
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca...	OMIM:601005
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Chylopericardium, ...	ORPHA:2414
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei...	OMIM:615688
Nephrotic Syndrome, Type 1	Small for gestational age, Pyloric stenosis, Hyperlipidemia, Hypothyroidism, Growth delay, Gastro...	OMIM:256300
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Dec...	OMIM:619750
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas...	ORPHA:90291
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Sepsis, Cardiomyopathy, Glomerular sclerosis, Nephropathy	ORPHA:247691
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d...	ORPHA:99931
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R...	ORPHA:422
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Avian Influenza	Meningitis, Acute kidney injury, Infectious encephalitis, Sepsis	ORPHA:454836
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Mevalonic Aciduria	Elevated hepatic transaminase, Optic disc pallor, Failure to thrive, Normocytic hypoplastic anemi...	OMIM:610377
Microtriplication 11Q24.1	Short stature, Hyperlipidemia, Obesity, Cleft palate, Bruxism	ORPHA:289522
Indifference To Pain, Congenital, Autosomal Recessive	Hyposmia, Anosmia	OMIM:243000
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Sepsis, Recurrent infections, ...	ORPHA:37042
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen...	OMIM:610489
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Decreased circulating antib...	ORPHA:90045
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul...	OMIM:618500
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented...	OMIM:610475
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Joint dislocation, Skin rash, Meningitis, Uveitis, Arthritis, Recurrent bacterial i...	ORPHA:36412
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Staphylococcal Necrotizing Pneumonia	Severe infection, Sepsis	ORPHA:36238
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:614897
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Abnor...	ORPHA:206594
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Anosmia, Lacrimal gland hypoplasia, Heterochromia ir...	OMIM:613266
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Diabetes mellitus, Conjunctival ...	OMIM:208900
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac...	ORPHA:103907
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elevated circulating alkaline phosphatase concentration, Decreased circulating total IgM, Annular...	OMIM:618162
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Facial palsy, Abnormal optic disc morphology, Retinal coloboma, Abnormal ...	ORPHA:508498
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma...	ORPHA:562639
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia	ORPHA:158014
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Absce...	ORPHA:400
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentratio...	OMIM:219080
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec...	OMIM:615816
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Small for gestational age, Impaired T cell function, Abnormality of thyroid physiolo...	ORPHA:1830
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Short stature, Elevated circulating C-reactive protein concentration, Diffuse al...	OMIM:616050
Glycogen Storage Disease Ib	Hepatomegaly, Hypoglycemia, Short stature, Splenomegaly, Hyperlipidemia, Osteoporosis, Xanthelasm...	OMIM:232220
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Riddle Syndrome	Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Diarrhea, Weig...	ORPHA:420741
Familial Multiple Lipomatosis	Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue, Insulin resistance, H...	ORPHA:199276
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Hypothyroidism, Diarrhea, Decreased circulating antibody le...	OMIM:226300
Lethal Congenital Contracture Syndrome 9	Anteverted nares, Depressed nasal bridge, Antecubital pterygium, Joint contracture of the hand, W...	OMIM:616503
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat...	ORPHA:565612
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Babesiosis	Hemolytic anemia, Hepatomegaly, Myocardial infarction, Congestive heart failure, Jaundice, Spleno...	ORPHA:108
Sea-Blue Histiocytosis	Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h...	ORPHA:158029
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula...	OMIM:300280
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiac arres...	OMIM:212138
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponatremia, Hypoparathyr...	ORPHA:199299
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas...	ORPHA:171
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Chronic Granulomatous Disease	Recurrent respiratory infections, Meningitis, Sepsis	ORPHA:379
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Optic atrophy, Decre...	OMIM:606056
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s...	OMIM:147250
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez...	OMIM:617718
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Left atrial enlargement, Decreased serum leptin, Short stature, Flexion contracture,...	OMIM:614008
Dubowitz Syndrome	Decreased circulating IgG level, Hyperactivity, Aplastic anemia, Chronic diarrhea, Acute lymphobl...	OMIM:223370
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Hyper...	OMIM:235400
Sepsis In Premature Infants	Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,...	ORPHA:90051
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Recurrent otitis media, Antecubital pterygium, Genu varum	ORPHA:2502
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Hermansky-Pudlak Syndrome 2	Epicanthus, Reduced natural killer cell activity, Recurrent pneumonia, Ocular albinism, Impaired ...	OMIM:608233
Kyphomelic Dysplasia	Pterygium, Depressed nasal bridge, Flat acetabular roof	OMIM:211350
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin...	OMIM:243150
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva	OMIM:277350
Frontofacionasal Dysplasia	Telecanthus, Cataract, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Brushfield spot...	ORPHA:1791
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Small for gestational age	OMIM:300076
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Right atrial enlargeme...	ORPHA:555874
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Anosmia	OMIM:614842
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di...	ORPHA:103910
Polycythemia Vera	Gastrointestinal hemorrhage, Myelofibrosis, Hepatomegaly, Angina pectoris, Epistaxis, Portal hype...	ORPHA:729
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Popliteal Pterygium Syndrome	Popliteal pterygium, Intercrural pterygium, Ankyloblepharon	OMIM:119500
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to thrive, Cardiomegal...	ORPHA:14
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Anosmia	OMIM:614839
Hypogonadotropic Hypogonadism 25 With Anosmia	Anosmia	OMIM:618841
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Reduced bone ...	ORPHA:324
Refsum Disease	Cataract, Anosmia, Ptosis	ORPHA:773
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Large for gesta...	ORPHA:116
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu...	ORPHA:3226
Immunodeficiency 56	Failure to thrive, Cholangitis, Chronic diarrhea, Cirrhosis, Chronic hepatitis due to cryptospori...	OMIM:615207
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Stevens-Johnson Syndrome	Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormality of the urethra, Sepsi...	ORPHA:36426
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi...	ORPHA:186
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Diarrhea, Increased circulating IgM level, T lymphocytopenia, Failure to thrive, Reduced natural ...	OMIM:242860
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port...	ORPHA:824
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Short stature, Hyperlipidemia, Insulin resistance, Osteolysis, Generalized lipodystro...	ORPHA:90154
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Refractory Celiac Disease	Villous atrophy, Malabsorption, Hypomagnesemia, Chronic diarrhea, Osteoporosis, Weight loss, Hypo...	ORPHA:398063
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Cholestasis, G...	OMIM:615630
Exudative Vitreoretinopathy 4	Osteopenia, Vitreous hemorrhage	OMIM:601813
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent infections, Sepsis, Decreased circulating antibody level	ORPHA:79396
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus...	ORPHA:290
Kleine-Levin Syndrome	Parosmia	ORPHA:33543
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Toxic Epidermal Necrolysis	Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormality of the urethra, Sepsi...	ORPHA:537
Tick-Borne Encephalitis	Elevated hepatic transaminase, Facial palsy, Elevated circulating C-reactive protein concentratio...	ORPHA:297
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616910
Moebius Syndrome	Epicanthus, Corneal opacity, Abnormality of the sense of smell, Blepharitis, Ptosis	ORPHA:570
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Hepatic steatosis	OMIM:617872
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy	ORPHA:79292
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Bardet-Biedl Syndrome 17	Hyposmia, Anosmia	OMIM:615994
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration...	OMIM:617099
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Hyperhidrosis, In...	ORPHA:1304
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Hypoglycemia,...	ORPHA:2394
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic...	OMIM:619424
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Optic atrophy, Agammaglobulinemia, Attention deficit hyperac...	ORPHA:52368
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia, Left ventricular ...	ORPHA:31150
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Elevated circulating creatine kinase c...	OMIM:309000
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc...	OMIM:618886
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Elevated circ...	OMIM:618805
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Gastroesophageal reflux, Compulsive behaviors, Abnormal repet...	ORPHA:534
Dyskeratosis Congenita, X-Linked	Cataract, Sparse eyelashes, Conjunctivitis, Bone marrow hypocellularity, Pterygium, Blepharitis	OMIM:305000
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Ocular albinism, Anosmia, Hypoplasia of the iris, He...	OMIM:611584
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin...	OMIM:619079
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Hydrolethalus	Abnormality of the sense of smell	ORPHA:2189
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t...	OMIM:613217
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ...	ORPHA:131
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Generalized Pustular Psoriasis	Renal insufficiency, Sepsis	ORPHA:247353
Necrotizing Enterocolitis	Neonatal sepsis, Abnormal heart morphology	ORPHA:391673
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Acro-Renal-Mandibular Syndrome	Downslanted palpebral fissures, Hip dislocation, Abnormality of the sense of smell	ORPHA:958
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Dermatopathia Pigmentosa Reticularis	Abnormal conjunctiva morphology, Adermatoglyphia, Palmoplantar hyperkeratosis	OMIM:125595
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Postinfectious Vasculitis	Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B...	ORPHA:48435
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel...	OMIM:210250
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal hypoplasia, Increa...	ORPHA:85138
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Good Syndrome	Abnormal leukocyte morphology, Diabetes mellitus, Diarrhea, Decreased circulating antibody level,...	ORPHA:169105
Immunodeficiency 10	Hypoplasia of the iris, Recurrent bacterial infections, Recurrent infections	OMIM:612783
Immunodeficiency 19	Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Failure to thrive, Abnormal natu...	OMIM:615617
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circula...	ORPHA:83617
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenome...	ORPHA:91138
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Atrophic gastritis, Thrombocytopenia, Decreased circulating antibody...	OMIM:616576
8P11.2 Deletion Syndrome	Epicanthus, Depressed nasal bridge, Anosmia, Microcornea, Upslanted palpebral fissure, Blepharoph...	ORPHA:251066
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Microcyti...	ORPHA:90308
Kufor-Rakeb Syndrome	Hyposmia, Anosmia	OMIM:606693
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo...	OMIM:618652
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Epistaxis, Abnormal number of alpha gr...	OMIM:139090
Sweet Syndrome	Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Recurrent infections, ...	ORPHA:3243
Shigellosis	Hemolytic-uremic syndrome, Myocarditis, Urethritis, Sepsis, Acute kidney injury	ORPHA:810
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio...	OMIM:230800
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat...	ORPHA:367
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Hepatic failure, Ascites, Anemia	ORPHA:75233
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventric...	ORPHA:75249
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Hsd10 Disease, Infantile Type	Restlessness, Hypoglycemia, Cardiomegaly, Gastrointestinal dysmotility, Hyperammonemia, Dysphagia...	ORPHA:391428
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,...	OMIM:608836
Smith-Kingsmore Syndrome	Large for gestational age, Hypoglycemia, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Mgat2-Cdg	Decreased circulating IgG level, Impaired lymphocyte transformation with phytohemagglutinin, Gast...	ORPHA:79329
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level	OMIM:614102
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Retinal...	OMIM:248500
Igg4-Related Aortitis	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Increased circulat...	ORPHA:449400
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia	ORPHA:99745
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Anosmia	OMIM:616030
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydroureter...	ORPHA:79404
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce...	OMIM:602782
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Listeriosis	Brain abscess, Unusual skin infection, Pericarditis, Meningitis, Myocarditis, Unusual CNS infecti...	ORPHA:533
Holoprosencephaly	Epicanthus, Aplasia/Hypoplasia involving the nose, Anteverted nares, Choanal atresia, Highly arch...	ORPHA:2162
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Currarino Syndrome	Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Sepsis, Horseshoe k...	OMIM:176450
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Arrhythmia,...	ORPHA:228305
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Portal hypertension, Malformation of the...	OMIM:208540
Aromatase Deficiency	Osteopenia, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Hyper...	ORPHA:91
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization	OMIM:193235
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hyposmia, Anosmia	OMIM:308700
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Anosmia	OMIM:601152
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria, Abnormal myelination	ORPHA:352682
Johanson-Blizzard Syndrome	Hepatomegaly, Failure to thrive, Diabetes mellitus, Small for gestational age, Elevated circulati...	OMIM:243800
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Hyperactivity, Small for gestational age, Optic nerve hypoplasia, Re...	ORPHA:508488
Malignant Atrophic Papulosis	Constrictive pericarditis, Abnormal conjunctiva morphology	OMIM:602248
Rat-Bite Fever	Pericarditis, Myocarditis, Sepsis, Endocarditis, Meningitis	ORPHA:31205
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Anosmia	OMIM:614841
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Osteolytic defects of the pha...	OMIM:228000
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Gastrointestinal dysm...	ORPHA:363705
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, ...	OMIM:606054
Angiostrongyliasis	Projectile vomiting, Increased circulating IgA level, Hypereosinophilia, Increased circulating sp...	ORPHA:74
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left v...	OMIM:617713
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Thr...	ORPHA:85212
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-...	ORPHA:85443
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Macular atrophy, Elevated circul...	OMIM:242840
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormality of the sense of smell	OMIM:228300
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Chori...	OMIM:277175
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess...	OMIM:618282
Rasmussen Subacute Encephalitis	Hyperactivity, Decreased circulating total IgA, Attention deficit hyperactivity disorder	ORPHA:1929
Diarrhea 12, With Microvillus Atrophy	Osteopenia, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Vomiting, Microvillar PA...	OMIM:619445
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h...	ORPHA:5
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leuk...	ORPHA:99828
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Failure to thrive, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Exocr...	ORPHA:2255
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Highly arched eyebrow, Recurrent infections, Anisocoria, Narrow palpebral fissure, Hy...	OMIM:618653
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Diarrhea, Rectal prola...	ORPHA:79076
Mitchell-Riley Syndrome	Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly p...	OMIM:615710
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic...	OMIM:251880
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Abnor...	OMIM:222470
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Anosmia	OMIM:614837
Turner Syndrome Due To Structural X Chromosome Anomalies	Epicanthus, Madelung deformity, Thyroiditis, Neck pterygia, Gastrointestinal inflammation, Genu v...	ORPHA:99413
Mosaic Monosomy X	Epicanthus, Madelung deformity, Thyroiditis, Neck pterygia, Gastrointestinal inflammation, Genu v...	ORPHA:99228
Monosomy X	Epicanthus, Madelung deformity, Thyroiditis, Neck pterygia, Gastrointestinal inflammation, Genu v...	ORPHA:99226
Turner Syndrome	Epicanthus, Madelung deformity, Thyroiditis, Neck pterygia, Gastrointestinal inflammation, Genu v...	ORPHA:881
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo...	ORPHA:1572
Vernal Keratoconjunctivitis	Abnormal cornea morphology, Corneal neovascularization, Punctate keratitis, Abnormal conjunctiva ...	ORPHA:70476
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal...	ORPHA:91139
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sepsis, Recurrent cut...	ORPHA:477
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hyperactivity, Large for gestational age, Neonatal hypoglycemia, Decreased circulating IgA level	ORPHA:457485
Familial Exudative Vitreoretinopathy	Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization, Reduced bone mineral den...	ORPHA:891
Rett Syndrome	Increased serum pyruvate, Skeletal muscle atrophy, Hyperammonemia, Agitation, Increased serum lep...	ORPHA:778
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J...	ORPHA:35909
Bardet-Biedl Syndrome 20	Atrial septal defect, Hypercholesterolemia, Male hypogonadism, Obesity	OMIM:619471
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi...	ORPHA:231214
Melioidosis	Brain abscess, Sepsis, Unusual skin infection	ORPHA:31202
Igg4-Related Pachymeningitis	Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra...	ORPHA:449427
Essential Thrombocythemia	Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenom...	ORPHA:3318
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
Oculoskeletodental Syndrome	Hepatomegaly, Short stature, Hypercalcemia, Small for gestational age, Splenomegaly, Elbow flexio...	OMIM:618440
Idiopathic Bronchiectasis	Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre...	ORPHA:60033
Chromomycosis	Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Eyelid retraction, Ectropion	ORPHA:182
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Congestive heart...	OMIM:261740
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Wolfram Syndrome 2	Diabetes mellitus, Optic neuropathy, Optic atrophy, Decreased circulating antibody level, Impaire...	OMIM:604928
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Abnormality of the pancreas, Pancreatic cysts, Exocrine pancreatic...	ORPHA:2750
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Eales Disease	Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,...	ORPHA:40923
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Tendon xanthomatosis, Hyperlipidemi...	ORPHA:391665
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Hyposmia, Corneal perforation, Conjunctiva...	ORPHA:68
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Parkinson Disease 8, Autosomal Dominant	Hyposmia	OMIM:607060
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level	ORPHA:3162
Radiation Proctitis	Sepsis	ORPHA:70475
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o...	OMIM:239850
Campomelic Dysplasia	Depressed nasal bridge, Hip dislocation, Abnormality of the sense of smell	ORPHA:140
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100080
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Hepatoblastoma, Spider hemangioma, Hyperlipidemia, Xanthelasma, Infla...	OMIM:232240
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, El...	ORPHA:308552
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ...	OMIM:619534
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy	OMIM:252900
Vici Syndrome	Decreased circulating IgG level, Abnormality of retinal pigmentation, Optic atrophy, Decreased ci...	ORPHA:1493
Nocardiosis	Brain abscess, Pericarditis, Abnormal heart valve morphology, Meningitis, Severe infection, Unusu...	ORPHA:31204
Peroxisome Biogenesis Disorder 3B	Abnormal bleeding, Hepatomegaly, Osteoporosis, Steatorrhea, Hypocholesterolemia	OMIM:266510
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short stature, Hyperlipidemia, Flexion contracture, Insulin resistance, Osteolysis, High palate, ...	ORPHA:90153
Polyendocrine-Polyneuropathy Syndrome	Abnormality of the sense of smell	OMIM:616113
Microsporidiosis	Brain abscess, Myocarditis, Urethritis, Sepsis, Endocarditis, Bronchiolitis, Nephritis, Infectiou...	ORPHA:2552
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Elevated circulating cre...	ORPHA:268
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Neu-Laxova Syndrome 1	Ablepharon, Wide nose, Cataract, Absent eyelashes, Depressed nasal ridge, Pterygium, Joint contra...	OMIM:256520
Kallmann Syndrome With Spastic Paraplegia	Anosmia	OMIM:308750
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Xerostomia, Hepatitis, Biliar...	ORPHA:227990
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Immunodeficiency 58	Recurrent cutaneous abscess formation, Chronic diarrhea, Dysphagia, Decreased circulating antibod...	OMIM:618131
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the...	ORPHA:3455
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Aredyld Syndrome	Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Type II diabetes mellitus, Type I diabetes...	ORPHA:1133
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ...	OMIM:276700
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic f...	OMIM:608013
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Single naris, Anosmia, Absent nares, Hyposmia, Iris coloboma	ORPHA:2250
Immunodeficiency 31C	Osteopenia, Skeletal muscle atrophy, Villous atrophy, Diabetes mellitus, Hepatomegaly, Short stat...	OMIM:614162
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Atelis Syndrome 2	Thrombocytopenia, Hyperinsulinemia, Supravalvar pulmonary stenosis, Vitreous hemorrhage, Pulmonic...	OMIM:620185
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee...	ORPHA:480520
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Occipital Horn Syndrome	Recurrent urinary tract infections, Hip dislocation, Hepatitis, Genu valgum, Abnormality of the s...	ORPHA:198
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level	OMIM:617425
Kallmann Syndrome	Hyposmia, Anosmia, Ptosis	ORPHA:478
Schimke Immunoosseous Dysplasia	Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Thrombocytopenia, Abnorma...	OMIM:242900
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Pancr...	OMIM:251000
Thymoma	Aplastic anemia, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, Pure red cell...	ORPHA:99867
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Elevated circulating C-reactive protein concentration, Increased circulating IgA lev...	OMIM:615934
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly	OMIM:268800
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100082
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal...	ORPHA:809
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan...	ORPHA:3464
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Choanal atresia, Hy...	ORPHA:2363
Chronic Bilirubin Encephalopathy	Neonatal sepsis	ORPHA:529808
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Ventricular septal defect, Cardiomegaly, Decreased skull ossification, Hypertrophic c...	OMIM:616897
Acute Bilirubin Encephalopathy	Neonatal sepsis	ORPHA:529799
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Delayed epiphyseal ossification, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic...	OMIM:614602
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau...	OMIM:613404
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Decreased platelet glycoprotein Ib	OMIM:603585
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Neuroleptic Malignant Syndrome	Proteinuria, Urinary incontinence, Sepsis, Myoglobinuria, Acute kidney injury	ORPHA:94093
Yellow Fever	Increased circulating interleukin 6 concentration, Acute pancreatitis, Neutrophilia, Elevated cir...	ORPHA:99829
Syndromic Diarrhea	Hepatomegaly, Small for gestational age, Gastritis, Increased mean platelet volume, Splenomegaly,...	ORPHA:84064
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination	ORPHA:85179
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Failure to thrive, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular ...	OMIM:618278
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Villous atrophy, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Mild postnatal growth ret...	OMIM:235510
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Raynaud phenomenon, Micronodular cirr...	OMIM:192315
Isolated Follicle Stimulating Hormone Deficiency	Anosmia	ORPHA:52901
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Short stature, Small for ...	OMIM:264090
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Angioid streaks of the fundus, Decreased circulating antibody level...	OMIM:158350
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura	OMIM:254450
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Rotor Syndrome	Conjunctival icterus	ORPHA:3111
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Failure to thrive, Diarrhea, Flexion contracture, Vomiting, High palate, Arthrog...	OMIM:601110
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:97287
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Congestive heart failure, Dilated car...	OMIM:615895
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho...	OMIM:300048
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Sepsis, Abnormal platelet function, Nephropathy, Meningitis	ORPHA:906
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Dysgammaglobulinemia, Re...	OMIM:251260
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Omenn Syndrome	Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection...	OMIM:603554
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Nasal polyposis, Recurrent mycobacterial infections, Bronchie...	ORPHA:244
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hernia, Tetralogy of Fall...	ORPHA:2847
Exudative Vitreoretinopathy 1	Vitreous hemorrhage, Retinal neovascularization	OMIM:133780
Diarrhea 9	Diarrhea, Failure to thrive, Villous atrophy	OMIM:618168
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Pericarditis, Hepatomegaly, Acute pancreatitis, ...	OMIM:619487
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis, Osteoporosis	OMIM:601979
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom...	OMIM:153670
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, S...	OMIM:259700
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Septo-Optic Dysplasia Spectrum	Anosmia	ORPHA:3157
Vitreoretinochoroidopathy	Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hypotension...	ORPHA:159
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Aa Amyloidosis	Hepatomegaly, Cholestasis, Abnormal heart morphology, Hypotension, Enlarged kidney	ORPHA:85445
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of retinal pigmentation, Aganglionic megacolon, Abnormality of the panc...	ORPHA:175
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Cryptococcosis	Meningitis, Sepsis	ORPHA:1546
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accu...	ORPHA:365
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Congestive heart failure, Cardiomegaly	OMIM:619259
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Parotitis, Abnormality of the peripheral nervous sys...	ORPHA:289390
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Young-Onset Parkinson Disease	Hyposmia	ORPHA:2828
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Mitral valve calcification, Abnormal ...	ORPHA:77261
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,...	ORPHA:98849
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Reduced bone mineral density, Intracranial hemorrhage, High palate, Abnorm...	ORPHA:740
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic diarrhea, Chro...	OMIM:615607
Say-Barber-Miller Syndrome	Rod-cone dystrophy, Transient hypogammaglobulinemia of infancy, Optic atrophy, Decreased circulat...	ORPHA:3132
Bosma Arhinia Microphthalmia Syndrome	Cataract, Choanal atresia, Synophrys, Lacrimal duct atresia, Anosmia, Aplasia of the nose	OMIM:603457
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin...	ORPHA:293987
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100075
Menkes Disease	Bladder diverticulum, Sepsis	ORPHA:565
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Diabetes mellitus, Sagittal craniosynostosis, Portal hypertension, Panc...	OMIM:610199
Persistent Hyperplastic Primary Vitreous	Hemorrhage of the eye	ORPHA:91495
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Rickets, Glycosuria	OMIM:616026
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Conjunctivitis, Absent eyebrow, Abnormal eyelash morphology,...	ORPHA:2273
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyponatremia, Neutrophilia, Facial palsy, Anorexia, Pa...	ORPHA:79139
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Uveal Melanoma	Vitreous hemorrhage	ORPHA:39044
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Retinoblastoma	Vitreous hemorrhage, Leukemia, Hyphema, Subretinal pigment epithelium hemorrhage	ORPHA:790
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Growth de...	ORPHA:139466
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Recurrent pneumonia, Sepsis	ORPHA:158668
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, Anemia	ORPHA:935
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Total anosmia	ORPHA:2326
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating antibody level, Constipation, Frequent tem...	OMIM:617062
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia, Bicoronal synostosis	OMIM:619718
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w...	ORPHA:64744
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal...	ORPHA:86839
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per...	OMIM:263200
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Ctcf-Related Neurodevelopmental Disorder	Phimosis, Sepsis, Recurrent infections, Atrial septal defect, Recurrent lower respiratory tract i...	ORPHA:363611
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Splenomegaly, Periostitis, Osteolysis	OMIM:612852
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Anosmia, White eyelashes, Heterochromia iridis, White eyebrow	OMIM:609136
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Congestive heart failure, Tachycardia, Autoimmune hemolytic anemia	ORPHA:90037
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Bruising susceptibility, Petechiae	OMIM:230000
Cog8-Cdg	Skeletal muscle atrophy, Failure to thrive, Protein-losing enteropathy, Hypoglycemia	ORPHA:95428
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi...	OMIM:208000
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Trigonocephaly 1	Omphalocele, High, narrow palate, Meckel diverticulum, Craniosynostosis	OMIM:190440
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Tricuspid regurgitation, Hypoper...	OMIM:611376
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Leopard Syndrome 1	Epicanthus, Limited elbow movement, Depressed nasal ridge, Hyposmia, Cubitus valgus, Ptosis	OMIM:151100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Cardiomegaly, Abnormal thymus morphology, Abnormal bone ossification, Mucosal telangi...	ORPHA:2463
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Delayed closure of the anterior fontanelle	OMIM:244460
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly,...	OMIM:235255
Superficial Siderosis	Anisocoria, Anosmia, Partial anosmia	ORPHA:247245
Amoebic Keratitis	Anterior uveitis, Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Scleritis, Punc...	ORPHA:67043
Wilson Disease	Osteoarthritis, Atypical or prolonged hepatitis, Kayser-Fleischer ring, Hyposmia, Chondrocalcinosis	OMIM:277900
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Dextrocardia, Situs inversus totalis, Jaundice, Hypertension, Hepatic cysts	OMIM:613095
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Monosomy 18Q	Slender build, Abnormal retinal morphology, Failure to thrive, Hypothyroidism, Secondary growth h...	ORPHA:1600
Coccidioidomycosis	Abnormal retinal morphology, Abscess, Eosinophilia, Abnormality of the spleen, Peritonitis, Incre...	ORPHA:228123
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cat Eye Syndrome	Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Rectal fistula, ...	OMIM:115470
Zygomycosis	Fasciitis, Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Hematochezia, Colon per...	ORPHA:73263
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis	ORPHA:90790
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Jaundice, Chron...	ORPHA:90033
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Xero...	ORPHA:79078
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Villous atrophy, Short stature, Abnormality of the endocrine system, Congestive heart...	ORPHA:391487
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia	OMIM:229700
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:542323
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Type I diabetes mellitus, Atr...	ORPHA:488618
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema	OMIM:221900
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phenomenon, Spl...	OMIM:613471
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Postnatal growth retardation, Splenomeg...	ORPHA:1655
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Depressed nasal bridge, Convex nasal ridge	OMIM:241410
Mucopolysaccharidosis Type 3	Cardiomegaly, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Hepatome...	ORPHA:581
Cantú Syndrome	Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly	ORPHA:1517
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas...	OMIM:256810
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra...	ORPHA:449395
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val...	OMIM:177850
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Secretory diarrhea...	OMIM:619377
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Anteverted nares, Blepharophimosis, Eyelid coloboma, Abnormal conjunctiv...	ORPHA:3339
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Abnormality of the liver,...	ORPHA:97214
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Camptodactyly of finger, Band keratopat...	OMIM:186580
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrh...	ORPHA:3260
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea	OMIM:614328
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Increased circulating IgG4 level, Abnormality of infra-o...	ORPHA:449563
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Congestive heart ...	OMIM:252500
Hereditary Late-Onset Parkinson Disease	Hyposmia	ORPHA:411602
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula...	OMIM:300855
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oli...	ORPHA:85436
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Atrial septal defect, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Osteopor...	OMIM:245600
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Gaucher Disease	Abnormal bleeding, Osteopenia, Increased bone mineral density, Hepatomegaly, Pancytopenia, Abnorm...	ORPHA:355
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Leukocytosis, Chronic d...	ORPHA:99843
Alg9-Cdg	Villous atrophy, Right ventricular dilatation, Gastroesophageal reflux, Vomiting, Abnormal left v...	ORPHA:79328
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Inguinal hernia, Abnormal heart valve morphology, Craniosynostosis, Malrot...	ORPHA:2953
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal...	ORPHA:71493
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Asplenia, ...	ORPHA:261552
Fanconi-Bickel Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Intrah...	OMIM:227810
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Charge Syndrome	Epicanthus, Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Anosmia, Eyelid colob...	ORPHA:138
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Familial Tumoral Calcinosis	Splenomegaly, Hyperostosis, Hepatomegaly	ORPHA:53715
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Atrial septal defect, Tricuspid regurgitation, Diastasis recti, Scarring, H...	OMIM:601776
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormal peripheral myelin...	ORPHA:466768
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Beckwith-Wiedemann Syndrome	Hepatomegaly, Neonatal hypoglycemia, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepato...	OMIM:130650
Meningioma	Abnormality of the sense of smell	ORPHA:2495
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Dysuria, Moderate albuminuria, Sepsis, Renal tubular epithelial necros...	ORPHA:95455
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Intrahepa...	ORPHA:97283
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Optic neuropathy, Anorexia, Splenom...	OMIM:181000
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Chronic diarrhea, Ileus, Type I diabetes mellitus, Failure to thrive, Hypothyroi...	OMIM:304790
Pelizaeus-Merzbacher Disease, Connatal Form	Abnormal morphology of musculature of pharynx, Macrogyria, Abnormal myelination, Cerebral hypomye...	ORPHA:280210
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp...	ORPHA:731
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism	ORPHA:567546
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per...	ORPHA:32960
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesiti...	ORPHA:85408
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Macular degeneration, Neutropenia, P...	ORPHA:33364
Plague	Meningitis, Sepsis, Endocarditis	ORPHA:707
Phacoanaphylactic Uveitis	Hyphema, Retinal arteritis	ORPHA:209959
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial...	ORPHA:904
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, Ascites, Enla...	OMIM:200995
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Farber Disease	Abnormality of the knee, Corneal opacity, Abnormality of the elbow, Recurrent upper respiratory t...	ORPHA:333
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone m...	ORPHA:667
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Wide nose, Cataract, Prominent nasal bridge, Ectopia lentis, Prominent nose, Sphero...	OMIM:601552
Tarp Syndrome	Failure to thrive, Subdural hemorrhage, Tetralogy of Fallot, Cleft palate, Tongue nodules, Glosso...	OMIM:311900
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Abnormal myelination	ORPHA:289266
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Trichothiodystrophy 1, Photosensitive	Chronic diarrhea, Intestinal obstruction, Decreased circulating IgG level, Small for gestational age	OMIM:601675
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination, Camptodactyly	OMIM:617333
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Camptodactyly of finger	ORPHA:2176
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhag...	ORPHA:90324
Meier-Gorlin Syndrome 7	Anal stenosis, Ventricular septal defect, Short stature, Craniosynostosis, Sagittal craniosynosto...	OMIM:617063
Cogan Syndrome	Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye	ORPHA:1467
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Secundum atrial septal defect, Recurrent pneumonia, Subarterial ventri...	ORPHA:99646
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventricular septal defect, ...	ORPHA:210122
Peroxisome Biogenesis Disorder 1B	Epiphyseal stippling, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:601539
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Short stature, Pyloric stenosis, Intrauterine growth retardation, Failure to...	OMIM:616395
Hennekam Syndrome	Splenomegaly, Lymphopenia, Hypocalcemia, Decreased circulating antibody level	ORPHA:2136
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, I...	OMIM:300967
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve...	ORPHA:728
Microvillus Inclusion Disease	Diarrhea, Abnormal small intestinal villus morphology, Hypovolemia, Villous atrophy	ORPHA:2290
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Intrahepatic cholestasis, Abnormal abd...	ORPHA:97282
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Neonatal allo...	ORPHA:51
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Bohring-Opitz Syndrome	Facial hypotonia, Short stature, Cardiomegaly, Bilateral wrist flexion contracture, Cleft palate,...	ORPHA:97297
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Intrahepatic cholestasis, Ab...	ORPHA:97278
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Cholelithiasis, T...	OMIM:263700
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Diabetes mellitus, Acanthocy...	ORPHA:97280
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno...	ORPHA:100079
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Osteomalacia, Cardiomegaly, Pericardial effus...	ORPHA:51608
Fanconi Anemia	Reduced bone mineral density, High palate, Atrial septal defect, Abnormality of the hypothalamus-...	ORPHA:84
Non-Specific Early-Onset Epileptic Encephalopathy	Limb hypertonia, Abnormal myelination	ORPHA:442835
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Decreased cir...	OMIM:274000
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage, Fasting hypoglycemia	ORPHA:25
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the pancreas, Neoplasm of the thymus, Intr...	ORPHA:97261
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Malrotation of small bowel, Ab...	ORPHA:264450
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia	OMIM:614653
Dextrocardia	Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnormal heart morpho...	ORPHA:1666
Visceral Myopathy 1	Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Diarrhea, Vomiting, Constipa...	OMIM:155310
Autosomal Dominant Cutis Laxa	Osteopenia, Aortic regurgitation, Inguinal hernia, Postnatal growth retardation, Congestive heart...	ORPHA:90348
Abetalipoproteinemia	Fat malabsorption, Abetalipoproteinemia	OMIM:200100
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Aregenerative Anemia	Abnormality of interleukin secretion, Bone marrow hypocellularity	ORPHA:101096
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Retinal neovascularization	ORPHA:411527
Incontinentia Pigmenti	Telangiectasia of the skin, Eosinophilia, Congestive heart failure, Retinal hemorrhage, Osteolysi...	ORPHA:464
Congenital Bile Acid Synthesis Defect Type 3	Fat malabsorption, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m...	ORPHA:512
Charge Syndrome	Cataract, Abnormal palmar dermatoglyphics, Choanal atresia, Radial head subluxation, Anosmia, Dow...	OMIM:214800
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Ventricular septal defect, Small for gestational age, ...	ORPHA:1708
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy	OMIM:618154
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Jaundice,...	OMIM:229600
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, Right ventricular dilatation, Gastro...	OMIM:619472
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Granulomatosis With Polyangiitis	Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia	OMIM:271510
Autosomal Recessive Cutis Laxa Type 1	Inguinal hernia, Abnormal cardiac ventricular function, Severe short stature, Pyloric stenosis, C...	ORPHA:90349
Tarp Syndrome	Failure to thrive, Tetralogy of Fallot, Cleft palate, Glossoptosis, Abnormal duodenum morphology,...	ORPHA:2886
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Fryns Syndrome	Omphalocele, Meckel diverticulum, Aganglionic megacolon, Intestinal malrotation, Ventricular sept...	OMIM:229850
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Splenomegaly, Retinal hemorrhage,...	ORPHA:191
Familial Drusen	Macular hemorrhage	ORPHA:75376
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Corneal pterygium, Symblepharon	OMIM:245660
Retinoblastoma	Vitreous hemorrhage, Leukemia	OMIM:180200
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Failure to thrive in infancy, Optic nerve hypoplasia, Gastroparesis, Chronic ...	ORPHA:500150
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia	ORPHA:99104
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Ventricular septal defect, Short stature, Small for gestational age, Preco...	OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Hepatoblastoma, Atrial septal defect, Exaggerated median tongue ...	OMIM:312870
Yunis-Varon Syndrome	Absent sternal ossification, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Renova...	ORPHA:3472
Down Syndrome	Aganglionic megacolon, Ventricular septal defect, Short stature, Protruding tongue, Complete atri...	OMIM:190685
Fumarase Deficiency	Conjunctival icterus, Necrotizing enterocolitis, Anteverted nares, Depressed nasal bridge	OMIM:606812
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Sponastrime Dysplasia	Small for gestational age, Decreased circulating antibody level, Neutropenia, Microcoria, Hypothy...	ORPHA:93357
Incontinentia Pigmenti	Eosinophilia, Leukocytosis, Retinal hemorrhage	OMIM:308300
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage	ORPHA:357074
Fraser Syndrome 1	Abnormal small intestine morphology, Cleft palate, Abnormal heart morphology, Abnormal thymus mor...	OMIM:219000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Bowel incontinence, Asplenia, Abnormal repetitive mannerisms, Bruxism, Dec...	ORPHA:261537
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Singleton-Merten Syndrome 1	Osteopenia, Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calc...	OMIM:182250
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Asplenia, Enterocolitis, Dysphagia, Decreased circulat...	ORPHA:2152
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Conjunctival whitish salt-like deposits	OMIM:211900
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Limb joint contracture, Facial hypotonia, Achilles tendon contracture, Delayed myelination, Corne...	ORPHA:404454
Dural Sinus Malformation	Chemosis	ORPHA:97339
Sarcoidosis	Abnormal nasal mucosa morphology, Cataract, Maculopapular exanthema, Erythema nodosum, Dacryocyst...	ORPHA:797
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal steno...	ORPHA:141127
Trichinellosis	Retinal hemorrhage	ORPHA:863
Genitopatellar Syndrome	Hip contracture, Anal stenosis, Ventricular septal defect, Malrotation of small bowel, Knee flexi...	OMIM:606170
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Corneal scarring, Recurrent Staphylococcus aur...	ORPHA:642
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Degcags Syndrome	Tachycardia, Diaphragmatic eventration, Hiatus hernia, Pulmonic stenosis, Abnormal myelination, P...	OMIM:619488
Pierson Syndrome	Hypertension, Retinal hemorrhage	OMIM:609049
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Corneal neovasculariz...	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
Epididymis - MPATH pathological process term hypospermia	Cd36^em1(IMPC)Mbp	HOM	Late 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	Early adult
Testis - MPATH pathological process term hyperplasia	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.

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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

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Gene: Cd36 MGI:107899

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Histopathology

Human diseases caused by Cd36 mutations

Histopathology

IMPC related publications

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