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Gene: Spta1 MGI:98385

Gene Summary

Name:

spectrin alpha, erythrocytic 1

Synonyms:

Spna1, erythroid, Spna-1, ihj

Order Alleles

IMPC Data Collections

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Spta1^em1(IMPC)Bay	HOM		Early adult	0.00
increased startle reflex		Spta1^em1(IMPC)Bay	HET		Early adult	8.16×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

VIP of right eye

17 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of left fundus

17 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

VIP of right fundus

17 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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MicroCT E18.5

Embryo reconstruction

9 Images

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Human diseases caused by Spta1 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 Spta1 (5 diseases)
Human diseases predicted to be associated with Spta1 (2234 diseases)

The table below shows human diseases associated to Spta1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Abnormal erythrocyte morphology, Con...	ORPHA:288
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970

The table below shows human diseases predicted to be associated to Spta1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H...	OMIM:615234
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic...	OMIM:615631
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased c...	OMIM:614470
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Abnormal erythrocyte morphology, Con...	ORPHA:288
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Increased circulating lactate dehydrogenase concentration, Pers...	OMIM:613673
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Increased proportion of gamma-delta ...	OMIM:617514
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:601775
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T...	ORPHA:673
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Jaundice, Hemolytic anemia	ORPHA:33574
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	ORPHA:169154
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocy...	OMIM:266200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoies...	ORPHA:231222
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Spl...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int...	OMIM:619281
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Splenomegaly, Neutrop...	ORPHA:231401
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Nondisjunction	Decreased fertility	OMIM:158250
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ...	OMIM:613495
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia...	OMIM:611590
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Proteinuria, Thrombocytopen...	OMIM:615008
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir...	OMIM:619868
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Increased level of L-pyroglutamic acid in urine, Hemolytic anemia	OMIM:231900
Porphyria, Acute Hepatic	Elevated urinary delta-aminolevulinic acid, Hemolytic anemia	OMIM:612740
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ...	OMIM:245900
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
3-Methylglutaconic Aciduria, Type Viia	Anemia, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis	OMIM:619835
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia	ORPHA:2134
Felty Syndrome	Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph...	ORPHA:47612
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese...	ORPHA:231154
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop...	OMIM:618394
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Decreased circulating carnitine concentration	OMIM:611283
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ...	OMIM:607594
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve...	OMIM:618048
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hemop...	OMIM:619644
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231214
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Congenital Amegakaryocytic Thrombocytopenia	Melanocytic nevus, Abnormal hemoglobin, Decreased skull ossification, Abnormal cardiac septum mor...	ORPHA:3319
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Conjunctivitis, Impa...	OMIM:240500
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Recurrent respiratory infections, Lymphopenia, Leukopenia, Malar rash, Skin rash, ...	OMIM:615934
Glycogen Storage Disease Vii	Cholelithiasis, Increased muscle glycogen content, Increased total bilirubin, Reduced erythrocyte...	OMIM:232800
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,...	ORPHA:75563
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit...	OMIM:620632
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Developmental And Epileptic Encephalopathy 50	Oroticaciduria, Acanthocytosis, Hyperammonemia, Renal tubular acidosis, Schistocytosis, Anisopoik...	OMIM:616457
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cut...	OMIM:613953
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic...	OMIM:614946
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, BCGitis, Recurrent respiratory infections, Impaired oxidative burst, ...	OMIM:226990
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea...	ORPHA:713
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phosph...	OMIM:620565
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Cutaneous photosensitivity	OMIM:618015
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt...	ORPHA:60026
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp...	ORPHA:98813
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia	OMIM:266130
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased...	OMIM:606367
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease...	OMIM:614878
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE ...	ORPHA:443811
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, A...	OMIM:614742
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Bronchiectasis, ...	OMIM:620282
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c...	OMIM:616452
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal...	OMIM:620296
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Oroticaciduria, Anisocytosis, Hematuria, Orotic acid cr...	OMIM:258900
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Porphyria Cutanea Tarda	Periportal fibrosis, Increased circulating iron concentration, Portal inflammation, Elevated circ...	ORPHA:101330
Pneumocystosis	Pneumocystis jirovecii pneumonia, Pleural effusion, Interstitial pneumonitis, Increased circulati...	ORPHA:723
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Amme Complex	Hematuria, Elliptocytosis	OMIM:300194
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Decreased liver fu...	OMIM:230400
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ...	ORPHA:133
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in re...	ORPHA:83471
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Autosomal Erythropoietic Protoporphyria	Erythema, Cholelithiasis, Decreased liver function, Microcytic anemia, Cirrhosis, Cutaneous photo...	ORPHA:79278
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	OMIM:300400
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating ...	OMIM:618805
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect...	OMIM:617585
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos...	OMIM:616871
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections...	OMIM:608971
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Recurrent bacterial infections, Helicobacter pylori i...	ORPHA:2688
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:257200
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recur...	OMIM:269840
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia...	ORPHA:572
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Hypomethioninemia, Meg...	OMIM:277410
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis	OMIM:604416
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Elevated circu...	OMIM:614034
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Breath-Holding Spells	Iron deficiency anemia, Pallor, Cyanosis	OMIM:607578
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta...	ORPHA:858
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl...	ORPHA:210136
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia	OMIM:618881
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J...	ORPHA:108
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Nephronophthisis	Anemia, Renal insufficiency	ORPHA:655
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, P...	OMIM:260400
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent viral infections, Lymphopenia, Lymph node hypoplasia, Recurrent lower res...	OMIM:613179
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Cutaneous photosensitivi...	OMIM:300752
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat...	OMIM:604273
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos...	ORPHA:331206
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Dark urine, Hemolytic anemia	OMIM:301015
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Horse...	OMIM:607330
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Protoporphyria, Erythropoietic, 1	Erythema, Cholelithiasis, Hepatic failure, Hypertriglyceridemia, Hemolytic anemia	OMIM:177000
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Cal...	OMIM:612714
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Proteinuria, Microscopic hematuria, Renal insufficiency, Elliptocytosis	ORPHA:86818
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia, Death in infancy	OMIM:129850
8P11.2 Deletion Syndrome	Hypoplasia of penis, Hemolytic anemia, Spherocytosis, Splenomegaly	ORPHA:251066
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopeni...	ORPHA:507
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aph...	ORPHA:486
Rotor Syndrome	Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermittent jaundice,...	ORPHA:3111
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Increased circulating lactate dehydrogenase concentration, Microangiopathic hemolytic anemia, Ele...	ORPHA:90038
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Abetalipoproteinemia	Acanthocytosis, Abetalipoproteinemia	OMIM:200100
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Recurrent otitis ...	OMIM:243700
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive...	ORPHA:1163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Recurrent pneumonia, Pneumonia, Decreased ...	ORPHA:169160
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia...	OMIM:608885
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Pneumocystis carinii pneumonia...	OMIM:312863
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Increased circu...	OMIM:617388
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Splenomegaly, Chronic sinusitis, Recurr...	ORPHA:397596
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Recurrent bacteria...	ORPHA:169079
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino...	OMIM:609529
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis	OMIM:178550
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Recurrent infections	OMIM:606445
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Splenomegaly,...	OMIM:153670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th...	ORPHA:277
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le...	OMIM:617241
Galactosemia Iii	Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ...	ORPHA:79126
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Decreased circulating complement C3 concentration,...	ORPHA:90060
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Emphysema, Ly...	ORPHA:1572
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat...	OMIM:618459
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Redu...	OMIM:300842
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcytic anemia, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, H...	OMIM:619013
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Hyp...	ORPHA:2169
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte...	ORPHA:57
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Cervical lymphadenopathy, Abnormal n...	ORPHA:3392
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Cystic Echinococcosis	Peritoneal abscess, Pulmonary cyst, Hyperbilirubinemia, Abscess, Ovarian cyst, Increased circulat...	ORPHA:400
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenomegaly,...	OMIM:259720
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, Increased ci...	OMIM:617099
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Abnormal pulmonary interstitial morphology, Leukopenia, Pleuritis, S...	ORPHA:809
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Hb Bart'S Hydrops Fetalis	Pallor, Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ...	OMIM:601847
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pulmonary fibrosis, Anemia, Pure red cell aplasia, Decreased circulating an...	OMIM:618165
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria	ORPHA:79238
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag...	ORPHA:2585
Acatalasemia	Microcytic anemia, Vitiligo, Reduced circulating catalase activity	ORPHA:926
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra...	OMIM:619256
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re...	ORPHA:2785
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia...	OMIM:614743
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia, Pulmonary fibrosis	OMIM:620400
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Immunodeficiency 23	Allergic rhinitis, Recurrent staphylococcal infections, Bronchiectasis, Chronic mucocutaneous can...	OMIM:615816
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer...	OMIM:254450
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:100024
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In...	ORPHA:247598
Rothmund-Thomson Syndrome, Type 3	Anemia, Anisopoikilocytosis	OMIM:615789
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Death in i...	OMIM:614876
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Choreoacanthocytosis	Acanthocytosis, Elevated circulating creatine kinase concentration	OMIM:200150
Hyper-Igd Syndrome	Recurrent infections, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Spl...	OMIM:260920
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, A...	OMIM:301000
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Reduced natural killer cell activity, Hepatom...	OMIM:603553
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increased circulatin...	ORPHA:289390
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Increased muscle glycogen content, Hyperuricemia	ORPHA:371
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Agenesis of corpus callosum, Myoglobinuria, Reduced tis...	ORPHA:228308
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Retrograde ejaculation, Elevated circul...	ORPHA:49041
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Horseshoe kidney, Abnormal platelet morphology, Thromb...	ORPHA:46059
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Evans Syndrome	Bruising susceptibility, Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence ...	ORPHA:1959
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Recurrent r...	OMIM:300635
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ...	ORPHA:169090
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd...	OMIM:617006
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no...	OMIM:612387
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,...	OMIM:618944
Iron Overload, Susceptibility To	Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir...	OMIM:620121
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Inflammatory abnormality of the skin, Increased circulating IgE level...	OMIM:102700
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Cardiomyopath...	ORPHA:157
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Acanthocytosis, Hep...	ORPHA:71
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, ...	OMIM:619858
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Hepa...	ORPHA:890
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Relapsing Fever	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased total bil...	ORPHA:91547
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc...	OMIM:619774
Multiple Myeloma	Elevated circulating creatinine concentration, Pleural effusion, Splenomegaly, Increased circulat...	ORPHA:29073
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Otitis media...	ORPHA:229717
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia,...	OMIM:606069
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase...	ORPHA:37748
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Cutaneous photosensitivity, Lupus nephritis, Thrombocytopenia,...	OMIM:152700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper res...	OMIM:614069
Srd5A3-Cdg	Microcytic anemia, Elevated circulating hepatic transaminase concentration, Spotty hyperpigmentation	ORPHA:324737
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Renal insufficiency, Hyperammonemia	ORPHA:28
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi...	OMIM:612541
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Ab...	ORPHA:398063
Klippel-Trénaunay Syndrome	Microcytic anemia, Ascites, Abnormality of the menstrual cycle, Abnormal tricuspid valve morpholo...	ORPHA:90308
Formiminoglutamic Aciduria	Anemia, Abnormal circulating histidine concentration, Megaloblastic anemia, Abnormal concentratio...	ORPHA:51208
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate...	ORPHA:398124
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ...	OMIM:143500
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Normochromic microcytic anemia, Elevated circulating aspartate aminotrans...	OMIM:610198
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Vascular Malformation, Primary Intraosseous	Hypochromic anemia, Elevated circulating alkaline phosphatase concentration	OMIM:606893
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor	OMIM:613561
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Decreased lymphocyte proliferatio...	OMIM:615122
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr...	OMIM:615767
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Sk...	ORPHA:83313
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Acut...	ORPHA:905
Omenn Syndrome	Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections, Hypoplasia o...	OMIM:603554
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ...	ORPHA:540
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopoiesis	OMIM:259730
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
C1Q Deficiency 2	Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ...	OMIM:620321
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascites, Abnormal circu...	ORPHA:79239
Galactosemia Ii	Prolonged neonatal jaundice, Hypergalactosemia	OMIM:230200
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia, Pulmonary ...	OMIM:620365
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Opportunistic infection, C...	ORPHA:90362
Lesch-Nyhan Syndrome	Anemia, Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Elevated circulating hepatic transaminase concentration, Abnormality of skin p...	OMIM:612379
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Congenital Rubella Syndrome	Splenomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Anemia, Atrial sept...	ORPHA:290
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Co...	OMIM:269920
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529799
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Coproporphyria, Hereditary	Diarrhea, Vomiting, Splenomegaly, Constipation, Hepatomegaly, Jaundice, Cutaneous photosensitivity	OMIM:121300
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Acute Erythroid Leukemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia	ORPHA:318
Fetal Parvovirus Syndrome	Anemia, Ascites, Thrombocytopenia	ORPHA:295
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pigmentary retinopathy, Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer...	OMIM:600462
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I...	ORPHA:470
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe...	ORPHA:59303
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Hepatomegaly, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:2123
Congenital Erythropoietic Porphyria	Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin ...	ORPHA:79277
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Anemia, Nephrocalcinosis, Hypercalciuria, Elliptocytosis	OMIM:300990
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Renal Fa...	ORPHA:53693
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Muscular ventric...	ORPHA:66634
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration	ORPHA:1551
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,...	ORPHA:1667
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ...	OMIM:601457
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic...	OMIM:619487
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Proteinuria, Hypercalcemia, Renal insufficiency	ORPHA:2668
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Conjugated hyperbilir...	ORPHA:168577
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Platelet Glycoprotein Iv Deficiency	Giant platelets, Prolonged bleeding time, Thrombocytopenia	OMIM:608404
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubin...	OMIM:619991
Plummer-Vinson Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia	ORPHA:54028
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto...	ORPHA:457077
Barth Syndrome	Dilated cardiomyopathy, Fair hair, Hypertrophic cardiomyopathy, Cyclic neutropenia, Endocardial f...	OMIM:302060
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Ascites, Stage 5 chronic kidney disease, Hyp...	OMIM:603278
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblast...	OMIM:229100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:1980
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t...	OMIM:619752
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida...	ORPHA:217390
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:208085
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr...	OMIM:178500
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Abnormal heart morphology, Hepatosplenom...	ORPHA:79333
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Meningitis, Endocarditis,...	ORPHA:781
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
Aceruloplasminemia	Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri...	OMIM:604290
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul...	OMIM:616050
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis,...	ORPHA:2902
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Elevated circulating C-reactive protein...	OMIM:612852
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Neut...	OMIM:616395
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spi...	ORPHA:2137
Immunodeficiency 116	Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu...	OMIM:608957
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration	OMIM:121270
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocyti...	OMIM:613990
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hypospadias	OMIM:612528
Immunodeficiency 46	Sepsis, Conjunctivitis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis...	OMIM:616740
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c...	ORPHA:90035
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Bruising susceptibility, HbH hemoglobin	ORPHA:98791
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant ...	OMIM:618282
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Cholestasis, Elevated...	OMIM:615486
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperuricemia, Prot...	OMIM:613092
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Horseshoe kidney, Vesicoureteral reflux, Macrocytic anemia, Ne...	OMIM:612562
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased HDL choleste...	ORPHA:77293
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Griscelli Syndrome	Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ...	ORPHA:381
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia	OMIM:618728
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Hepat...	ORPHA:355
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy, Abnormal circulating C-reactive prote...	OMIM:620514
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Muscle fiber atrophy, Stage 5 ...	ORPHA:228302
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,...	ORPHA:3226
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin...	OMIM:615214
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Thrombo...	OMIM:613989
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis,...	OMIM:619573
Hepatitis Delta	Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer...	ORPHA:402823
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a...	OMIM:618213
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Dermatitis Herpetiformis	Microcytic anemia, Erythema, Urticaria	ORPHA:1656
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E...	OMIM:251880
Aregenerative Anemia	Bone marrow hypocellularity, Bruising susceptibility, Pancytopenia, Decreased proportion of CD4-p...	ORPHA:101096
Progeria-Short Stature-Pigmented Nevi Syndrome	Generalized osteoporosis, Osteopenia, Elevated circulating hepatic transaminase concentration, Pr...	ORPHA:2959
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi...	ORPHA:446
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu...	ORPHA:284227
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Recurrent otitis media, Recurrent bacterial infections, Absent neutr...	OMIM:617475
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Hydroxykynureninuria	Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level	OMIM:236800
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Hypochromic microcytic anemia	OMIM:619147
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin	ORPHA:2924
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:39812
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Reticular Dysgenesis	Sepsis, Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Skin rash...	ORPHA:33355
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, Recurrent upper respirat...	OMIM:618806
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Absent natural ...	ORPHA:35078
Von Willebrand Disease	Bruising susceptibility, Microcytic anemia, Petechiae, Abnormal mitral valve morphology, Thromboc...	ORPHA:903
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent...	OMIM:615468
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, ...	ORPHA:79312
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Fragile skin, Duplicated collectin...	ORPHA:79404
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice	ORPHA:90033
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Castleman Disease	Mediastinal lymphadenopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, H...	ORPHA:160
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias	OMIM:245550
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi...	OMIM:307200
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Miscarriage	ORPHA:464370
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegal...	OMIM:615387
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating alanine ami...	OMIM:620376
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ery...	OMIM:557000
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis, ...	OMIM:616126
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Lymphadenit...	ORPHA:51636
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Skin rash, In...	OMIM:617591
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Ascites, Decreased...	OMIM:615758
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro...	OMIM:231100
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Mediastinal lymphadenopathy, Enlarged lacrimal glands, Abnor...	OMIM:181000
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice, Conjugated hyperbili...	ORPHA:234
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Increased circulating lactate dehydrogenase concentration, Hypersegmentation of neutrophil nuclei...	OMIM:617780
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Incre...	OMIM:174050
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Hypoalbuminemia, Biliary cirrhosis, Hypotriglyceridemia, Decreased circulat...	ORPHA:2298
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Severe infection, Leukocytosis	ORPHA:206594
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Primary Biliary Cholangitis	Increased circulating IgA level, Cirrhosis, Hepatomegaly, Jaundice, Ascites, Abnormal intrahepati...	ORPHA:186
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Abnormal lung morphology, Hepatitis, Conjunctivitis, Osteomyelitis, ...	ORPHA:47
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn...	OMIM:618204
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular...	OMIM:620135
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Angiostrongyliasis	Unusual CNS infection, Hypereosinophilia, Increased circulating specific IgE antibody, Increased ...	ORPHA:74
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Increased circulating lactate dehydrogenase concentration, Acute monocytic le...	ORPHA:514
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Bruising...	OMIM:214500
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate	OMIM:619046
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoproteinemia, Eleva...	ORPHA:96180
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Hyperlysinemia, Type I	Hypoornithinemia, Hyperlysinuria, Hyperlysinemia, Cystinuria, Anemia, Ornithinuria, Argininuria, ...	OMIM:238700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre...	OMIM:618116
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Subcutaneous lipoma, Ascites, Neoplasm of ...	ORPHA:97283
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Prolonged neon...	ORPHA:499009
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
H Syndrome	Osteolysis, Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Facial telangiectasia, Azoosperm...	ORPHA:168569
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Hypopigmentation of the skin, Reduced erythrocyte uroporphyrinogen II...	OMIM:263700
Omenn Syndrome	Pneumonia, Sepsis, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosi...	ORPHA:39041
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Dry skin, Portal hypert...	OMIM:607626
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Methylmalonic aciduria, Decreased methionine synthase activity, Hypomethioninemia...	OMIM:250940
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag...	OMIM:267500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Throm...	ORPHA:289916
Cholestasis, Intrahepatic, Of Pregnancy, 1	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru...	OMIM:147480
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly, Prolon...	OMIM:607625
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre...	ORPHA:167
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Elevated c...	OMIM:607115
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly	ORPHA:27
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Inc...	OMIM:256040
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia, Micropenis	OMIM:620501
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Death in infancy	ORPHA:139406
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia, Reduced 3-phosphoglycerate dehydrogenase activity	OMIM:601815
Neutrophil Immunodeficiency Syndrome	Poor wound healing, Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections	OMIM:610798
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Abnormal pulmo...	OMIM:230800
Coach Syndrome 3	Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Anemia	OMIM:619113
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Unusual CNS infection, Granuloma, Osteomyeli...	ORPHA:228119
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide...	ORPHA:70593
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze...	OMIM:306400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Recurrent ...	OMIM:620233
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Elevated total serum tryptase, Chronic myelomonocytic leukemia, Urticaria, Flu...	ORPHA:98849
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb muscle weakness, Hepatic steatosis,...	OMIM:277900
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopeni...	ORPHA:93552
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser...	OMIM:614972
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Mem...	ORPHA:251004
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran...	OMIM:607676
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Schimke Immuno-Osseous Dysplasia	Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom...	ORPHA:1830
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Meningitis, Elevated circulat...	ORPHA:50918
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Gray Platelet Syndrome	Bruising susceptibility, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Myelo...	OMIM:139090
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anem...	ORPHA:88
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Microcytic anemia, Neutropenia	OMIM:251900
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,...	OMIM:618549
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir...	ORPHA:91139
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Hyperamm...	OMIM:617049
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Fibrodysplasia Ossificans Progressiva	Anemia	ORPHA:337
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, E...	OMIM:619381
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly, Elevated circulating creatine kinase concentration	OMIM:618838
Wolman Disease	Reduced lysosomal acid lipase activity, Acute hepatic failure, Splenomegaly, Death in infancy, He...	OMIM:620151
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Ascites, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly	OMIM:226300
Shigellosis	Pneumonia, Hepatic failure, Sepsis, Microangiopathic hemolytic anemia, Ulcerative colitis, Choles...	ORPHA:810
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Myocardial necrosis, Intrarenal abscess, Infectious en...	ORPHA:68
Congenital Disorder Of Glycosylation, Type Iif	Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Recurren...	OMIM:603585
Sialuria	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Prol...	ORPHA:3166
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce...	OMIM:615846
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Generalized hypopigmentat...	ORPHA:2720
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Thrombocytopenia, P...	OMIM:224230
Cyclic Neutropenia	Sepsis, Recurrent tonsillitis, Opportunistic infection, Periodontitis, Cervical lymphadenopathy, ...	ORPHA:2686
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Ventricular septal defect, Colpocephal...	ORPHA:261250
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eosinophilia, Membran...	OMIM:618999
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Glomerulonephri...	ORPHA:99867
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten...	ORPHA:124
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase conce...	OMIM:618775
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Ab...	ORPHA:284
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Mirage Syndrome	Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia, Leukopenia, Decrea...	OMIM:617053
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice	OMIM:262400
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia, Hypermelanotic macule	OMIM:112200
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic...	ORPHA:99826
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Decre...	ORPHA:158061
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
Bacterial Toxic-Shock Syndrome	Glomerulonephritis, Recurrent skin infections, Elevated circulating creatinine concentration, Ost...	ORPHA:36234
Myasthenia Gravis	Glycosuria, Hepatitis, Abnormal thymus morphology, Pure red cell aplasia, Hemolytic anemia	ORPHA:589
Corticosteroid-Binding Globulin Deficiency	Anemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentration,...	OMIM:611489
Transcobalamin Ii Deficiency	Methylmalonic aciduria, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reti...	OMIM:275350
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, C...	OMIM:618886
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Rickets, Elevated circulating alkaline phosphatase concentration, Osteoma...	ORPHA:89937
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Opportunistic bacterial infection, Abnormal T cell subset distrib...	ORPHA:158048
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Digeorge Syndrome	Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Atelectasi...	OMIM:188400
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol...	OMIM:608709
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Recurrent...	OMIM:612782
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Tubulointerstitial ...	ORPHA:797
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Cardiomyopathy, Osteomalacia, Leuko...	ORPHA:289157
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia, Intestinal lymphangiectasia	OMIM:152800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Danon Disease	Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali...	OMIM:300257
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Neutropenia, Mono...	OMIM:300299
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia	OMIM:607906
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Megaloblastic anemi...	OMIM:236270
Sepsis In Premature Infants	Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Cyanosis, Hepatomegaly, ...	ORPHA:90051
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Intraalveolar phos...	OMIM:610913
Peroxisome Biogenesis Disorder 7A (Zellweger)	Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con...	OMIM:614872
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pr...	OMIM:613845
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Hypophosphatasia	Anemia, Hypercalcemia	ORPHA:436
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,...	OMIM:602390
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron...	ORPHA:420741
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Ventricular septal defect, Perimembranous ventricular septal defect, Hypochromic ...	OMIM:301040
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin...	ORPHA:3162
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Hermansky-Pudlak Syndrome 4	Pulmonary fibrosis, Absent platelet dense granules	OMIM:614073
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent viral infections, Increased circulating IgE level, Eosinophilic infi...	OMIM:620532
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Sepsis, Sept...	ORPHA:449280
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurrent skin inf...	ORPHA:169105
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Hereditary Folate Malabsorption	Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating...	ORPHA:90045
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl...	OMIM:620184
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:796
Oslam Syndrome	Anemia	OMIM:165660
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate...	OMIM:614887
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Sea-blue histiocytosis, Petechiae, Splenomegaly, Hyperpigmentation ...	ORPHA:158029
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media, Hepatic stea...	OMIM:619525
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Osteomyelitis, Increased circulating re...	ORPHA:171876
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Generalized abnormality of skin, Urticaria, Increase...	ORPHA:98848
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia	OMIM:612073
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive megaloblastic a...	OMIM:249270
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Microangiopathic he...	ORPHA:244242
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Potocki-Shaffer Syndrome	Anemia, Micropenis	ORPHA:52022
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Infectiou...	ORPHA:549
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h...	ORPHA:131
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Thrombocytopenia,...	ORPHA:77261
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Fumarase Deficiency	Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Poly...	OMIM:606812
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Dry skin, Abnormal circulating thyroglobulin concentration, Conjugat...	ORPHA:95715
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Eosinophi...	ORPHA:353298
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid...	OMIM:240300
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Unusual...	ORPHA:228123
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Hypochromic anemia, Bruising susceptibility, Subcutaneo...	ORPHA:99147
Typhoid	Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Abnormal pulmonary interstitial m...	ORPHA:99745
Overlap Myositis	Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Abnormal circulati...	ORPHA:206572
Osteopetrosis, Autosomal Recessive 9	Anemia, Elevated circulating creatinine concentration, Hyperkalemia, Stage 3 chronic kidney disease	OMIM:620366
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Bruising susceptibility, Petechiae, Ecchymosis, ...	OMIM:187900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Infertility, Abnormality of skin pigmentation	OMIM:300719
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu...	OMIM:222470
Immunodeficiency 57 With Autoinflammation	Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou...	OMIM:618108
Mevalonic Aciduria	Recurrent infections, Elevated circulating hepatic transaminase concentration, Fluctuating spleno...	OMIM:610377
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Increased circulating antibody le...	ORPHA:85443
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Aggressive Systemic Mastocytosis	Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis,...	ORPHA:98850
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di...	ORPHA:20
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Pulmonary fibrosis, Erysipelas, Elevated circulating creatine kinase concentration	OMIM:615704
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Increased serum bile acid concentration, Hypokale...	OMIM:619377
Infection-Related Hemolytic Uremic Syndrome	Meningitis, Hyperkalemia, Pleural empyema, Abnormal circulating chemokine concentration, Hypocalc...	ORPHA:544482
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Neonatal hyperbilirubinemia, Hypogonadism, Long eyelashes, Sparse hair	ORPHA:3363
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoospermia, Sp...	OMIM:235200
Classic Mycosis Fungoides	Erythema, Alopecia, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Lymphaden...	ORPHA:2584
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Abnormal glycosphingolipid metabolism	OMIM:611721
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,...	ORPHA:182050
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Reduced HMG-CoA lyase activity in cultured fibrobl...	OMIM:246450
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrheic dermatitis, Thr...	OMIM:619693
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade...	ORPHA:2302
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Recurrent viral infections, Decreased circulating total IgG, D...	ORPHA:221139
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Splenomegaly, Adrenocorticotropic ...	OMIM:609981
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Lymphocytosis, Hepatic steatosis	ORPHA:79087
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia, Hypogonadotropic hypogonadism, Primary amenorrhea	ORPHA:293967
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N...	ORPHA:238459
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia	OMIM:612199
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu...	OMIM:301068
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent re...	OMIM:617050
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Cinca Syndrome	Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Hepatomegaly, Lymphadenopathy, E...	ORPHA:1451
Immunodeficiency 31C	Bronchiectasis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Eczematoid d...	OMIM:614162
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia, Hypospadias	ORPHA:1296
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Emphysema, Ascites, Reduced circulating complement concentration, Pleural effusio...	ORPHA:36412
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo...	ORPHA:2032
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Lower limb muscle weakness, Pelvic mas...	ORPHA:370348
Hermansky-Pudlak Syndrome 6	Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Impaired arachi...	OMIM:614075
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica...	OMIM:201475
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re...	ORPHA:676
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Agen...	OMIM:619418
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Nephritis, Leukopenia,...	OMIM:617303
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hirsuti...	OMIM:612526
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Macrocytic anemia	OMIM:620071
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Pneumonia, Acute kidney injury, Elevated circulating hepatic transamin...	ORPHA:95455
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Prolong...	ORPHA:3318
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea nitrogen, Ele...	ORPHA:231111
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Medullary nephrocalcinosis, Acanthocytosis, Poikilocytosis	OMIM:618947
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Bleeding Disorder, Platelet-Type, 11	Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu...	OMIM:614201
Staphylococcal Necrotizing Pneumonia	Pneumonia, Sepsis, Leukopenia, Leukocytosis, Pleural effusion, Severe infection, Pneumothorax, Ac...	ORPHA:36238
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Hypophosphatemia, Hypercalciuria, P...	OMIM:239200
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly, Aminoaciduria	ORPHA:417
Anti-Glomerular Basement Membrane Disease	Anemia, Proteinuria, Hematuria, Renal insufficiency	ORPHA:375
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Conjunctivitis, Camptodactyly of finger, Urticaria, Recurrent aph...	ORPHA:575
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon...	OMIM:613779
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ...	OMIM:615607
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, Pancyto...	OMIM:251110
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias	OMIM:250790
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Ollier Disease	Anemia, Lymphangioma	ORPHA:296
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Bruising susceptibility, Im...	OMIM:155100
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Hematuria, Thrombocytope...	OMIM:185070
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g...	OMIM:261750
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Bloom Syndrome	Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemi...	ORPHA:125
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormal circulating selenium concentration, IgA depos...	ORPHA:79408
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Erdheim-Chester Disease	Osteomyelitis, Pleural effusion, Skin rash, Anemia, Abnormal pulmonary interstitial morphology, P...	ORPHA:35687
Syndromic Diarrhea	Hepatic fibrosis, Peripheral pulmonary artery stenosis, Abnormality of iron homeostasis, Panhypog...	ORPHA:84064
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia, Urethral stricture	OMIM:226670
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Increased C-peptide level, Decreased ...	ORPHA:276556
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Agenesis of corpus callosum, Elevated circulating alanine amin...	OMIM:608836
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Bronchiectasis, Polysplenia, Atelectasis, Recurrent otitis me...	ORPHA:244
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, I...	ORPHA:276575
Autosomal Agammaglobulinemia	Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag...	ORPHA:33110
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Neuraminidase Deficiency	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascite...	OMIM:256550
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph...	ORPHA:340
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal infections, Hepatomegaly, Chro...	OMIM:616622
Glucagonoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Abnormal abdomen morphology, Sto...	ORPHA:97280
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Renal insufficiency, Proteinuria, Megaloblastic anemia, Anemia	OMIM:618882
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Polycythemia Vera	Acute leukemia, Polycythemia, Bruising susceptibility, Portal hypertension, Splenomegaly, Leukocy...	ORPHA:729
Dermotrichic Syndrome	Anemia, Aminoaciduria	ORPHA:99688
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome...	OMIM:615688
Aicardi-Goutieres Syndrome 1	Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly, ...	OMIM:225750
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Recurrent otitis media, Exocrine pancreatic insufficien...	OMIM:618268
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Severe viral infection, Hepatitis, Skin ...	ORPHA:319251
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A...	ORPHA:79078
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Subpleural interstitial thic...	ORPHA:79128
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Recurrent pneumonia, Inflammation of the large intestine, Cervica...	OMIM:617718
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Eczematoid dermatitis, Pancreatic hypoplasia, Superficial dermal perivascular inf...	ORPHA:83617
Eisenmenger Syndrome	Bacterial endocarditis, Increased mean corpuscular volume, Ascites, Abnormal heart morphology, Ab...	ORPHA:97214
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Rhabdomyolysis, Hepatomegaly, Polycystic kidney dy...	ORPHA:26791
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Lateral ventricle dilatation, Elbow flexion contracture, Vesicouret...	OMIM:300868
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Recurrent infections, Bronchiectasis, Decreased proportion of CD4-positive T cells	ORPHA:477814
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Art...	ORPHA:343
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia	OMIM:614450
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Increase...	ORPHA:449432
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,...	ORPHA:508542
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Pancytopenia, Decreased circulating IgA level, Hypersplenism, Splenomegaly, Portal hyp...	OMIM:613385
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Cutis marmorata, Pallor, Splenomegaly...	ORPHA:33226
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:100075
Hepatoerythropoietic Porphyria	Osteopenia, Hypopigmentation of the skin, Erythroid hyperplasia, Abnormal circulating enzyme conc...	ORPHA:95159
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane...	OMIM:242840
Hamamy Syndrome	Osteopenia, Hypochromic anemia, Microcytic anemia, Complete atrioventricular canal defect, Atrial...	OMIM:611174
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:618858
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism,...	OMIM:305000
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Rickets, Macrocytic anemia, Iron deficie...	OMIM:212750
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Hydatidiform Mole	Anemia	ORPHA:99927
Eosinophilic Gastroenteritis	Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein con...	ORPHA:2070
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c...	OMIM:616730
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Hydronephrosis, Micropenis, Thrombocytopeni...	ORPHA:163979
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Cyanosis, Hematuria, Gastritis, Dec...	ORPHA:31826
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepatomegaly, Irregular m...	ORPHA:264580
Intermediate Osteopetrosis	Anemia, Hepatosplenomegaly	ORPHA:210110
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphatase concentration, Fatal...	ORPHA:275761
Alg6-Cdg	Hypoalbuminemia, Abnormality of the liver, Abnormal circulating enzyme concentration or activity,...	ORPHA:79320
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Cronkhite-Canada Syndrome	Alopecia, Diarrhea, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenom...	ORPHA:2930
Mannose-Binding Lectin Deficiency	Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in...	OMIM:614372
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ...	OMIM:256500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma c...	OMIM:620358
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, ...	OMIM:617872
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Otitis media, Skin rash, Increased inflammatory response, Pr...	ORPHA:900
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Sepsis, Elevated circulating hepatic transaminase concentra...	ORPHA:79324
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Aut...	OMIM:243150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Pulmonary fibrosis, Honeycomb lung	OMIM:616371
Yellow Fever	Neutrophilia, Opportunistic infection, Pancreatic hyperplasia, Elevated circulating creatinine co...	ORPHA:99829
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia, Cholecystit...	ORPHA:69665
Follicular Lymphoma	Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis, Medi...	ORPHA:545
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Cutis marmorata, Myocarditis,...	ORPHA:464343
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Decreased liver function, Elevated circulating creatine kinase concentration	OMIM:618835
Immunoglobulin A Deficiency 1	Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina...	OMIM:137100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Generalized abnormality of skin, Ascites, Abnormal heart morphology, Abnormality of the liver, Hy...	ORPHA:464321
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ...	OMIM:617744
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Decreased liver function, Elevated circulating creatine kinase concentration	OMIM:618839
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Decreased response to growth hormone stimulation test, Lymphocytic interstitial pneumonia	OMIM:245590
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver	ORPHA:205
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor	ORPHA:209981
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Chronic infection, Lymphaden...	ORPHA:520
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Niemann-Pick Disease, Type C1	Fetal ascites, Neurofibrillary tangles, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure...	OMIM:257220
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
22Q11.2 Deletion Syndrome	Cholelithiasis, Impaired T cell function, Atelectasis, Abnormal lung lobation, Splenomegaly, Hypo...	ORPHA:567
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Decreased muscle mass, Infertility,...	ORPHA:465508
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ...	ORPHA:90280
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Neutrophilic Dermatosis, Acute Febrile	Anemia, Elevated circulating C-reactive protein concentration	OMIM:608068
Ethanolaminosis	Cardiomegaly	OMIM:227150
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Bruising susceptibility, Impaired clot retraction, Impa...	OMIM:273800
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatic necrosis, Ful...	OMIM:231530
Igg4-Related Ophthalmic Disease	Thyroiditis, Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Sialad...	ORPHA:449563
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Pancytopenia, Hyperglycinemia, Hyperammonemia, Elevated urine ...	OMIM:251100
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymph...	ORPHA:83469
Congenital Enterovirus Infection	Hypoalbuminemia, Fetal ascites, Sepsis, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leuk...	ORPHA:292
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice	OMIM:618512
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym...	ORPHA:99827
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Episcleritis, Splenomegaly, T...	ORPHA:525731
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Eosinophilia, L...	OMIM:616651
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom...	ORPHA:42642
Proteus Syndrome	Depigmentation/hyperpigmentation of skin, Mandibular hyperostosis, Facial hyperostosis, Splenomeg...	OMIM:176920
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Sepsis, Hepatic failure, Elevated circulating hepatic transaminase concentration,...	OMIM:614886
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Eczematoid dermatitis, Cardiomyopathy...	OMIM:606054
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Tendon rupture, C...	ORPHA:85451
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Decreased liver function, Elevated circulating biliverdin concentration	OMIM:614156
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Tick-Borne Encephalitis	Unusual CNS infection, Myelitis, Elevated circulating hepatic transaminase concentration, Leukope...	ORPHA:297
Albers-Schönberg Osteopetrosis	Anemia, Hypocalcemia, Abnormal leukocyte morphology	ORPHA:53
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:610582
Mercury Poisoning	Hypokalemia, Interstitial pneumonitis	ORPHA:330021
Complement Component 7 Deficiency	Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men...	OMIM:610102
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor, Increased C-peptide level, Decreased circulating free fatty acid level	ORPHA:324575
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Sepsis, Elevated circulating hepatic transaminase concentra...	ORPHA:454836
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Jaundice, Elevated circulating hepatic transaminase concentration, Prolong...	OMIM:616483
American Trypanosomiasis	Diarrhea, Pallor, Splenomegaly, Achalasia, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:570422
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level	ORPHA:276580
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level	OMIM:609016
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Leukocytosis, Anemia, Neutrophilia, Hepatomegaly	ORPHA:99843
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Rhabdomyolysis, Dysmenorrhea, Myoglobinuria, Cirrhosis, Hepatomegaly, Pelvic girdle muscle weakne...	ORPHA:79240
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Conjunctivitis, Abnormal pulmonary interstitial morphology, Cervical ...	ORPHA:2331
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis, Abetalipoproteinemia	ORPHA:157850
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy...	ORPHA:79456
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Glandular hypospadias, Abnormal erythrocyte morphology,...	ORPHA:2575
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin...	OMIM:613095
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:606176
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Gaucher Disease Type 2	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:77260
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran...	ORPHA:562639
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methy...	ORPHA:79282
Athrombia, Essential	Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation	OMIM:209050
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Lead Poisoning	Chronic kidney disease, Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sperm mot...	ORPHA:330015
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Wolfram Syndrome 1	Pigmentary retinopathy, Cardiomyopathy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytope...	OMIM:222300
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur...	OMIM:255125
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Pallor	ORPHA:2786
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Reduced subcutaneous ...	OMIM:227810
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Hypertrophic cardi...	OMIM:276700
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran...	OMIM:614576
Platelet Disorder, Undefined	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Nephronophthisis 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:256100
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Recurrent upper respiratory tract infections, Cholelithiasis, Decreased testicular size, Cryptorc...	OMIM:300534
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia, Recurrent bacterial infections	ORPHA:86788
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Elevated circulating long chain fatty acid concentration, Joint contracture of the...	OMIM:214110
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Pulmonary e...	ORPHA:79330
Spondylometaphyseal Dysplasia, Axial	Recurrent pneumonia, Splenomegaly	OMIM:602271
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent infections, Eczematoid dermatitis, Atelectasis, Increased circulating IgE level, Osteom...	ORPHA:2314
Maturity-Onset Diabetes Of The Young, Type 13	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:616329
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Decreased glomerular filtration rate, Hyperoxaluria, Stage 5 chronic ...	ORPHA:93598
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Bicuspid aortic valve, Neutropenia, Anemia of inadequate production	OMIM:614900
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a...	OMIM:614866
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Cyanosis, Telangiectasia, Iron deficiency anemia, Liver abscess	ORPHA:2038
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg...	OMIM:116920
Complement Component 8 Deficiency, Type Ii	Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections	OMIM:613789
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a...	ORPHA:56
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Hyperuricemia, Pallor, Thrombocytosis, Hepatomegaly	ORPHA:134
Peutz-Jeghers Syndrome	Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Hypermelanotic macule, Neopla...	OMIM:175200
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Bruising susceptibility, Horseshoe kidney, Abnormal...	OMIM:227650
Complement Component 4A Deficiency	Purpura, Cutaneous photosensitivity, Glomerulonephritis	OMIM:614380
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Thrombocytopenia, Neutropenia, Anemia	OMIM:614520
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent respiratory infections, Lymphopenia, Autoimmune hemolytic anemia, Abnorma...	ORPHA:760
Reynolds Syndrome	Skin ulcer, Generalized abnormality of skin, Ascites, Cirrhosis, Telangiectasia of the skin, Hepa...	ORPHA:779
Non-Acquired Isolated Growth Hormone Deficiency	Prolonged neonatal jaundice, Premature skin wrinkling	ORPHA:631
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:613658
Complement Factor D Deficiency	Recurrent bacterial infections, Partial functional complement factor D deficiency	OMIM:613912
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat...	ORPHA:319552
Unclassified Myelodysplastic Syndrome	Abnormal circulating lactate dehydrogenase concentration, Bone marrow hypocellularity, Acute myel...	ORPHA:98827
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	ORPHA:635
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Neonatal death	OMIM:614870
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir...	ORPHA:85212
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor	ORPHA:329971
Chronic Granulomatous Disease	Sepsis, Eczematoid dermatitis, Recurrent respiratory infections, Splenomegaly, Otitis media, Hepa...	ORPHA:379
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Atrial septal defect, Thrombocytopenia, Neutropenia, Norm...	OMIM:614857
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In...	OMIM:619313
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thr...	OMIM:600901
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Hepatomegaly	OMIM:301066
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Pleural effu...	ORPHA:2905
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Recessive Dystrophic Epidermolysis Bullosa Inversa	Anemia, Urethral stricture	ORPHA:79409
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Pulmonary fibrosis	ORPHA:457240
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Abnormal ci...	ORPHA:348
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Decreased response to growth hormone stimulation t...	OMIM:610978
Non-Functioning Pituitary Adenoma	Irregular menstruation, Male hypogonadism, Vomiting, Abnormality of the menstrual cycle, Hypogona...	ORPHA:91349
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Hepatic failure, Splenomegaly	ORPHA:664
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Dicarboxylic aciduria, Hypertrophi...	OMIM:212140
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Ascites, Increased level of propylene glycol in blood,...	OMIM:215600
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, El...	OMIM:620005
Fanconi Renotubular Syndrome 5	Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Hypophosphatemia, Pulmonary fibrosis	OMIM:618913
Sheehan Syndrome	Sparse pubic hair, Breast hypoplasia, Dry skin, Decreased female libido, Pallor, Hyponatremia, Sp...	ORPHA:91355
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Ectopic kidney	OMIM:613309
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney disease, Hyperglycinem...	OMIM:251000
Ebola Hemorrhagic Fever	Sepsis, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopeni...	ORPHA:319218
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur...	ORPHA:436271
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly	OMIM:615637
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Pelvic kidney	OMIM:617244
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c	OMIM:609812
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Increased circulating interleukin 6 concentration...	ORPHA:178320
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Poor woun...	OMIM:608203
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Cutaneous photosensitivity, Hematuria, Proteinuria, L...	ORPHA:536
Nephronophthisis 11	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts,...	OMIM:613550
Antisynthetase Syndrome	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Keratoconjunctivitis sic...	ORPHA:81
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Hepatomegaly, Recurrent bacterial infections, Vacuolated lymphocytes, Decreased cir...	OMIM:248500
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising...	ORPHA:90062
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dermatological manifest...	ORPHA:100078
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis	ORPHA:220402
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Sepsis, Cutaneous abscess, Foot osteomyelitis, ...	ORPHA:31202
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Anemia, Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase co...	OMIM:615838
Polymyositis	Elevated circulating creatine kinase concentration, Arthritis, Hepatomegaly, Abnormal pulmonary i...	ORPHA:732
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Prolonged bleeding time	OMIM:185050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Elevated circulating creatinine concentrati...	OMIM:174000
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Hepatomegaly, Recurrent infections, Decreased ...	OMIM:605309
Hijazi-Reis Syndrome	Recurrent respiratory infections, Hyperbilirubinemia, Recurrent ear infections	OMIM:301094
Farber Disease	Hepatic fibrosis, Recurrent upper respiratory tract infections, Hepatic failure, Elevated circula...	ORPHA:333
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Skeletal muscle atrophy, Decreased liver function, Elevated circul...	OMIM:608779
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elev...	ORPHA:521219
Vipoma	Intrahepatic cholestasis, Erythema, Abnormal abdomen morphology, Subcutaneous lipoma, Ascites, Ne...	ORPHA:97282
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperbilirubinemia, Absent gallbla...	OMIM:615710
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:210900
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis, Goiter	OMIM:617175
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice	ORPHA:2349
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreased circulati...	OMIM:613327
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased testicular size, Decreased circulating IgA level, Decr...	OMIM:620040
Icf Syndrome	Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circ...	ORPHA:2268
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Reduced tissue alpha-N-acetylgluc...	OMIM:252920
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97261
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Crescentic glomerulonephritis, Mesangial h...	OMIM:616414
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:603358
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ...	OMIM:613489
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis...	OMIM:615482
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Alpha-Mannosidosis, Adult Form	Pneumonia, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Recurrent infections	ORPHA:309288
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pallor, Elevat...	ORPHA:263455
Bazex Syndrome	Anemia	ORPHA:166113
Porphyria Variegata	Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Abnormality of t...	ORPHA:79473
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Degcags Syndrome	Chronic kidney disease, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Free Sialic Acid Storage Disease	Iris hypopigmentation, Ascites, Splenomegaly, Abnormality of skin pigmentation, Hepatomegaly, Red...	ORPHA:834
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Decreased liver function, Hypertrophic cardiomyopathy, Hyperphosphatur...	OMIM:220110
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Bruising susceptibilit...	OMIM:227645
Hermansky-Pudlak Syndrome	Pulmonary fibrosis, Neutropenia	ORPHA:79430
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Pancytopenia, Elevated circulating creatine ...	OMIM:607426
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Death in childhood, Death in infancy, Ca...	OMIM:619064
Sweet Syndrome	Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci...	ORPHA:3243
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase acti...	OMIM:277400
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells, Stomatitis	OMIM:618307
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome...	ORPHA:656
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Adenohypophysitis	Decreased male libido, Decreased female libido, Pallor, Hyponatremia, Amenorrhea, Nausea, Impoten...	ORPHA:95512
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Petechiae, Neonatal death, Cardiomega...	OMIM:608013
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Benign Paroxysmal Torticollis Of Infancy	Vomiting, Pallor	ORPHA:71518
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Elevated urinary vanillylman...	OMIM:256700
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se...	ORPHA:293978
Congenital Factor Ii Deficiency	Anemia, Microscopic hematuria	ORPHA:325
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Abno...	ORPHA:33276
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia	OMIM:618885
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Renal agenesis, Brui...	OMIM:227646
Zika Virus Disease	Myelitis, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Thrombocytopeni...	ORPHA:448237
Ogden Syndrome	Facial wrinkling, Recurrent otitis media, Hyperbilirubinemia, Ventricular septal defect, Bicuspid...	OMIM:300855
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Sepsis, Hepatosple...	ORPHA:505248
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti...	OMIM:613860
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased...	OMIM:618620
Tarp Syndrome	Extramedullary hematopoiesis, Horseshoe kidney, Tetralogy of Fallot, Cyanosis, Hydronephrosis, At...	ORPHA:2886
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Cirrhosis, Hyperalaninemia, Anemia, Macr...	ORPHA:298
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Crohn's disease, Orchitis, Peritonitis,...	OMIM:249100
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Pleural e...	ORPHA:67
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:1839
Hypophosphatasia, Infantile	Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Elevated urine pyrophosp...	OMIM:241500
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Poikiloderma With Neutropenia	Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Skin ...	OMIM:604173
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Decreased acid ceramida...	OMIM:228000
Kenny-Caffey Syndrome, Type 2	Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Thyrocerebroretinal Syndrome	Nephritis, Skeletal muscle atrophy, Thrombocytopenia	OMIM:274240
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Osteoporosis	ORPHA:309031
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left ventri...	ORPHA:57777
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gou...	OMIM:232220
Whipple Disease	Uveitis, Mediastinal lymphadenopathy, Splenomegaly, Infectious encephalitis, Myositis, Hepatomega...	ORPHA:3452
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Recurrent sk...	OMIM:233600
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular...	OMIM:256810
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Thrombocytopenia 2	Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo...	OMIM:188000
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Perioral erythema, Hypogonadism, Dry skin, Alopecia of scalp, Splenomegaly, Low alkalin...	OMIM:201100
Tangier Disease	Decreased HDL cholesterol concentration, Dry skin, Nail dystrophy, Splenomegaly, Elevated circula...	OMIM:205400
Alg8-Cdg	Elevated circulating hepatic transaminase concentration, Ascites, Hyponatremia, Thrombocytopenia,...	ORPHA:79325
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Increased circulating ferritin concentration, Or...	OMIM:222700
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H...	OMIM:619048
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Pneumothorax, Leukocytosis, Neutrophilia	ORPHA:1302
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia	OMIM:616638
Bone Dysplasia, Lethal Holmgren Type	Anemia, Hepatomegaly, Atrial septal defect, Hypertrophic cardiomyopathy	ORPHA:1842
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Le...	OMIM:603467
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated cir...	ORPHA:85414
Nijmegen Breakage Syndrome	Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infecti...	ORPHA:647
Panhypophysitis	Decreased male libido, Decreased female libido, Pallor, Hyponatremia, Amenorrhea, Nausea, Impoten...	ORPHA:95513
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Hyperargininemia, Hepatomeg...	OMIM:207800
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Hyperbilirubinemia	OMIM:609734
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis	OMIM:160900
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Braddock Syndrome	Pulmonary fibrosis	ORPHA:52047
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Dilatation of...	OMIM:619534
Sialidosis Type 2	Nephropathy, Skeletal muscle atrophy, Ascites, Splenomegaly, Hepatomegaly, Flexion contracture	ORPHA:87876
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:391
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Death in child...	OMIM:246900
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Splenomegaly, Osteopetrosis, Hepatomegaly, Hypopigmentation of hair...	OMIM:618541
Abcd Syndrome	Polycythemia	OMIM:600501
Acth Deficiency, Isolated	Cholestasis, Jaundice	OMIM:201400
Microlissencephaly	Pneumonia	ORPHA:1083
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm...	OMIM:617941
Weismann-Netter Syndrome	Anemia	ORPHA:3344
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Bi...	OMIM:613610
Choreoacanthocytosis	Peroneal muscle atrophy, Dilated cardiomyopathy, Distal amyotrophy, Increased circulating lactate...	ORPHA:2388
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hepatitis, Vitiligo, Macrocytic anemia, Eosinophilia, Generalized bone deminer...	ORPHA:199299
Cardiomyopathy, Familial Restrictive, 6	Hepatic artery hyperplasia, Ascites, Death in infancy, Portal vein hypoplasia, Hepatomegaly	OMIM:619433
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
Bachmann-Bupp Syndrome	Small nail, Dry skin, Hyperbilirubinemia, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:619075
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Dermatomyositis	Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Heliotro...	ORPHA:221
Incontinentia Pigmenti	Erythema, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplas...	OMIM:308300
Listeriosis	Pneumonia, Acute kidney injury, Arteritis, Septic arthritis, Osteomyelitis, Pyelonephritis, Chole...	ORPHA:533
Immunodeficiency 68	Sepsis, Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, A...	OMIM:612260
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:79230
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea...	ORPHA:444490
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Cholelithiasis	ORPHA:464738
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein concentration, Conjun...	OMIM:120100
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Hyperalaninemia	OMIM:620646
Livedoid Vasculopathy	Poor wound healing, Polycythemia, Skin ulcer, Macular purpura, Abnormal circulating lipid concent...	ORPHA:542643
Hoyeraal-Hreidarsson Syndrome	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase...	ORPHA:26793
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cyanosis, Cylindruri...	OMIM:233450
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Elevated circulating hepatic ...	OMIM:212065
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Chronic mucoc...	ORPHA:391487
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin conc...	ORPHA:95716
Kearns-Sayre Syndrome	Sideroblastic anemia, Pigmentary retinopathy, Cardiomyopathy	OMIM:530000
Gaucher Disease, Type Ii	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:230900
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Sandifer Syndrome	Anemia	ORPHA:71272
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren...	OMIM:607944
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Bronchiectasis, Neutropenia, Aspiration pneumonia	OMIM:618253
Fanconi Anemia, Complementation Group P	Anemia, Pancytopenia, Pelvic kidney, Horseshoe kidney	OMIM:613951
Complement Factor B Deficiency	Pneumonia, Decreased circulating complement factor B concentration, Recurrent meningococcal disea...	OMIM:615561
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level, Abnormal pleura morphology	ORPHA:2571
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito...	ORPHA:32960
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Pallor, Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia, Lymphadeno...	ORPHA:667
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Elevated circulating C-reactive protein concentration	ORPHA:324964
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Lateral v...	OMIM:617397
Cimdag Syndrome	Hepatomegaly, Recurrent infections, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate...	ORPHA:367
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Trichorrhexis nodosa, Chronic hepatitis, Chro...	OMIM:614602
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Primary Lateral Sclerosis, Juvenile	Dysphagia, Pallor, Pseudobulbar paralysis	OMIM:606353
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Polycystic ovaries, Hepato...	ORPHA:79259
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Leukocytosis, Elevated circulating C-reactive protein concentratio...	OMIM:191900
Autosomal Dominant Optic Atrophy, Classic Form	Hypogonadism, Macrocytic anemia	ORPHA:98673
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ...	OMIM:613807
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Pparg-Related Familial Partial Lipodystrophy	Secondary amenorrhea, Prominent veins on trunk, Hypertrophic cardiomyopathy, Hepatic steatosis, S...	ORPHA:79083
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Cryoglobulinemic Vasculitis	Abnormality of the liver, Cutis marmorata, Renal insufficiency, Splenomegaly, Petechiae, Hematuri...	ORPHA:91138
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy, Retic...	OMIM:613987
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Pallor, Neutropenia	OMIM:609053
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Elevated circulating hepatic tr...	OMIM:618752
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Neonatal hyperbilirubinemia, Cryptorchidism, Neutropenia, R...	ORPHA:163956
Arteriosclerosis, Severe Juvenile	Anemia, Chronic kidney disease	OMIM:208060
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Pulmonary arteriovenous malf...	ORPHA:774
Optic Atrophy 1	Pallor	OMIM:165500
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts	OMIM:616307
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul...	OMIM:600649
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype...	OMIM:615751
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Stiff-Person Syndrome	Anemia	OMIM:184850
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Leukocytosis, Hashimoto thyroiditis, Hyponatremia, Thrombocytopenia	ORPHA:83601
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia	OMIM:616604
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase...	OMIM:300280
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent...	OMIM:614582
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Severe viral infection, Atelectasis, Lym...	ORPHA:319213
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ...	ORPHA:2869
46,Xx Gonadal Dysgenesis	Increased circulating gonadotropin level, Pulmonary fibrosis, Streak ovary	ORPHA:243
Dengue Fever	Bruising susceptibility, Ascites, Leukopenia, Petechiae, Thrombocytopenia, Hepatomegaly, Hypoprot...	ORPHA:99828
Methylmalonic Acidemia With Homocystinuria Type Cblf	Abnormal heart morphology, Neutropenia, Megaloblastic anemia, Reduced number of intrahepatic bile...	ORPHA:79284
Leptospirosis	Acute kidney injury, Uveitis, Hepatitis, Skin rash, Rhabdomyolysis, Elevated serum transaminases ...	ORPHA:509
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Cyanosis, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Myopathy, Dysmenorrhea, Glomerulopa...	ORPHA:2348
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Elevated circulatin...	OMIM:614204
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Decreased circulating carnitine concentration, Mildly ele...	ORPHA:254864
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Nail bed telangiectasia, Osteomyelitis, Renal insuff...	ORPHA:90291
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Pentalogy Of Cantrell	Absent gallbladder, Polysplenia, Pulmonary hypoplasia	ORPHA:1335
Johanson-Blizzard Syndrome	Exocrine pancreatic insufficiency, Hydronephrosis, Anemia, Hypoplasia of penis, Hypospadias, Hypo...	ORPHA:2315
Sandhoff Disease	Urinary incontinence, Skeletal muscle atrophy, Hepatosplenomegaly, Increased urinary N-acetylgluc...	OMIM:268800
Malt Lymphoma	Posterior uveitis, Lymphadenopathy, Anemia, Recurrent respiratory infections, Mediastinal lymphad...	ORPHA:52417
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Fabry Disease	Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Anemia, Urinary mulber...	OMIM:301500
Gallbladder Neuroendocrine Tumor	Elevated gamma-glutamyltransferase level, Biliary tract neoplasm, Ascites, Chronic noninfectious ...	ORPHA:100086
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections, Abnormality of the pan...	ORPHA:935
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly...	OMIM:208540
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Diarrhea, Abnormal circulating enzyme co...	ORPHA:79332
Alpha-Mannosidosis	Splenomegaly, Arthritis, Hepatomegaly, Recurrent respiratory infections, Chronic otitis media	ORPHA:61
Pituitary Apoplexy	Hyponatremia, Pallor, Normochromic anemia	ORPHA:95613
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Fanconi Anemia, Complementation Group S	Anemia	OMIM:617883
Alstrom Syndrome	Irregular menstruation, Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase...	OMIM:203800
Galactokinase Deficiency	Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hypercholesterolemia, ...	ORPHA:79237
Leigh Syndrome, Nuclear	Hepatocellular necrosis	OMIM:256000
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hypop...	ORPHA:79329
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media, Recurrent Haemophilus influen...	OMIM:300455
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio...	OMIM:614921
Propionic Acidemia	Hepatomegaly, Propionyl-CoA carboxylase deficiency, Hyperammonemia	ORPHA:35
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory tract...	ORPHA:60025
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Recurrent respiratory infections, Cardiomegaly, Recurrent infec...	ORPHA:97297
Cartilage-Hair Hypoplasia	Fair hair, Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglut...	OMIM:250250
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u...	ORPHA:230
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Hepatic steatosis, H...	OMIM:229600
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Cutis marmorata, Portal hypertension, Splenomegaly	OMIM:616589
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Zellweger Syndrome	Hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Hepatom...	ORPHA:912
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Elevated circulating hepatic transaminase concentration, Arthrogryp...	OMIM:301056
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infection, Pleural e...	ORPHA:73263
High Altitude Pulmonary Edema	Pulmonary edema, Leukocytosis	ORPHA:330012
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Macrocytic anemia, Ventricular septal defect, Dextrocardia,...	OMIM:614294
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly	ORPHA:99812
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect...	OMIM:251260
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hyponatremia, Hepatitis	ORPHA:199296
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:51
Attrv30M Amyloidosis	Nephropathy, Cardiomyopathy, Cardiomegaly, Impotence, Abnormal renal physiology	ORPHA:85447
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Mucopolysaccharidosis, Type Iiia	Coarse hair, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Diarrhea, Splenomegaly...	OMIM:252900
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Hypoparathyroidism, Abnormal pulmonary interstitial morphology, Recurrent re...	ORPHA:209905
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Nabais Sa-De Vries Syndrome, Type 1	Highly arched eyebrow, Long eyelashes, Low anterior hairline, Prolonged neonatal jaundice, Synophrys	OMIM:618828
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:508533
Prolactinoma	Irregular menstruation, Male hypogonadism, Vomiting, Abnormality of the menstrual cycle, Hypogona...	ORPHA:2965
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Hennekam Syndrome	Chylothorax, Erysipelas, Ascites, Lymphopenia, Splenomegaly, Lymphangioma, Hypocalcemia, Lymphade...	ORPHA:2136
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Abnormal hemoglobin, Infectious encephalitis, Hydronephrosis,...	ORPHA:847
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Increas...	ORPHA:97278
Hereditary Fructose Intolerance	Hypermagnesemia, Reduced circulating aldolase concentration, Diarrhea, Vomiting, Hyperuricemia, N...	ORPHA:469
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Chronic noninfectious lymphadenopathy, Elevated circulating growth ho...	ORPHA:97287
Glycogen Storage Disease Ii	Firm muscles, Urinary incontinence, Reduced muscle alpha-1,4-glucosidase activity, Increased circ...	OMIM:232300
Cyclic Vomiting Syndrome	Nausea, Vomiting, Pallor	OMIM:500007
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutropenia, Re...	OMIM:617827
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Developmental And Epileptic Encephalopathy 75	Prolonged neonatal jaundice, Decreased liver function	OMIM:618437
Generalized Pustular Psoriasis	Hypoalbuminemia, Sepsis, Elevated circulating hepatic transaminase concentration, Lymphopenia, Le...	ORPHA:247353
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir...	OMIM:269700
Severe Hemophilia A	Anemia, Macroscopic hematuria	ORPHA:169802
Cryptococcosis	Pneumonia, Sepsis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Prostatiti...	ORPHA:1546
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Pulmonary fibrosis, Prolonged bleeding time	OMIM:203300
Revesz Syndrome	Bone marrow hypocellularity, Aplastic anemia, Macrocytic anemia, Neutropenia, Fine, reticulate sk...	OMIM:268130
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Neonat...	OMIM:614096
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Decreased response to growth hormone stimulation test, Pancytope...	ORPHA:1855
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Hepatic steatosis, Hip contrac...	OMIM:619503
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Spontaneous Periodic Hypothermia	Diarrhea, Pallor	ORPHA:29822
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Hepatic failure, Recurrent respiratory inf...	OMIM:615207
Pleural Mesothelioma	Abnormal pleura morphology, Pleural effusion, Lymphadenopathy, Hepatomegaly, Abnormal lung morpho...	ORPHA:50251
Mucopolysaccharidosis, Type Iiic	Coarse hair, Diarrhea, Hypertrichosis, Splenomegaly, Hirsutism, Hepatomegaly, Dysphagia, Synophrys	OMIM:252930
Myopathic Ehlers-Danlos Syndrome	Poor wound healing, Mildly elevated creatine kinase, Pallor	ORPHA:536516
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Agenesis of corp...	ORPHA:3008
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Mottled pigmentation, Absent ossification of capital femoral epiphys...	ORPHA:226313
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Elevated circulating hepatic transaminase concentration, Hypoproteinemia	OMIM:608093
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Death in infancy, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancr...	OMIM:208500
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Mulibrey Nanism	Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Coach Syndrome 1	Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat...	OMIM:216360
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Systemic Capillary Leak Syndrome	Leukocytosis, Pleural effusion, Pulmonary edema, Pancreatitis, Myocarditis, Pericarditis	ORPHA:188
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Bruising susceptibility...	OMIM:601399
Complement Factor H Deficiency	Recurrent bacterial infections, Decreased circulating complement factor H concentration, Depletio...	OMIM:609814
Resistance To Thyrotropin-Releasing Hormone Syndrome	Prolonged neonatal jaundice, Dry skin, Abnormal circulating thyroglobulin concentration	ORPHA:99832
Hatipoglu Immunodeficiency Syndrome	Anemia, Pancytopenia, Hypospadias	OMIM:620331
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Recurrent pneumonia, Pulmonary cyst, Chronic mucocu...	OMIM:147060
Cockayne Syndrome Type 1	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Foot joint contractur...	ORPHA:90321
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis	OMIM:619466
Non-Functioning Paraganglioma	Nausea, Pallor, Hypercalcemia, Flushing	ORPHA:94080
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections, Osteomyelit...	OMIM:615978
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie...	OMIM:137940
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, ...	ORPHA:565612
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Pachydermoperiostosis	Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Hepatomegaly, Seborrheic dermatitis, Elevated...	ORPHA:2796
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Fucosidosis	Macroglossia, Oligosacchariduria, Bruising susceptibility, Reduced circulating alpha-L-fucosidase...	OMIM:230000
Familial Mediterranean Fever	Erysipelas, Ascites, Acute hepatic failure, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Peri...	ORPHA:342
Diffuse Cutaneous Systemic Sclerosis	Pulmonary fibrosis, Arthritis	ORPHA:220393
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Colitis, Cardiomegaly	ORPHA:88643
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis	OMIM:616069
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Prolidase Deficiency	Erythema, Skin ulcer, Abnormal fingernail morphology, Dry skin, White forelock, Splenomegaly, Low...	ORPHA:742
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomegaly, Atrial septal ...	OMIM:608776
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Recurrent lower respiratory tract infections, Acute infec...	ORPHA:60033
Neuroleptic Malignant Syndrome	Sepsis, Hyperphosphatemia, Elevated circulating hepatic transaminase concentration, Aspiration pn...	ORPHA:94093
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Chronic otitis media, Recurrent cutaneous ...	OMIM:618131
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Low plasma citrulli...	OMIM:261680
Scrub Typhus	Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Meningitis, Anter...	ORPHA:83317
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Recurrent infections, Chronic neut...	OMIM:258360
Hermansky-Pudlak Syndrome 9	Leukopenia, Hypopigmentation of the skin, Thrombocytopenia, Ocular albinism	OMIM:614171
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Abnormal lung morphology, Cholelithiasis	ORPHA:909
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Actinic Prurigo	Pyoderma, Cheilitis, Cutaneous photosensitivity, Glomerulonephritis	OMIM:174770
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Lassa Fever	Menometrorrhagia, Oliguria, Jaundice, Conjunctivitis, Increased circulating IgM level	ORPHA:99824
Juvenile Dermatomyositis	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Arthritis, Calcinosis, E...	ORPHA:93672
Dravet Syndrome	Pallor, Cyanotic episode	ORPHA:33069
Gm1-Gangliosidosis, Type I	Abnormality of the urinary system, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal ...	OMIM:230500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Death in infancy, Neonatal death	OMIM:613730
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia, Reduced bone mineral density, Abnormal bone ossification	ORPHA:93315
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Dyskeratosis Congenita	White hair, Premature graying of hair, Cirrhosis, Hepatomegaly, Sparse hair, Alopecia, Abnormal e...	ORPHA:1775
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperprolinemia, Cardiomegaly, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy...	OMIM:619170
Joubert Syndrome 8	Prolonged neonatal jaundice, Hepatomegaly	OMIM:612291
Kabuki Syndrome 1	Lateral ventricle dilatation, Recurrent otitis media, Crossed fused renal ectopia, Ureteropelvic ...	OMIM:147920
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Hypocholesterolemia, Dec...	OMIM:223370
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites	ORPHA:139411
Gastrointestinal Stromal Tumor	Anemia, Abnormality of the liver	ORPHA:44890
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Anemia, Microscopic hematuria	ORPHA:71273
Lymphatic Malformation 7	Anemia, Ascites	OMIM:617300
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Prominent superficial veins, Hypertriglyceridemia,...	OMIM:608600
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia	OMIM:226600
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Peroxisome Biogenesis Disorder 6B	Prolonged neonatal jaundice, Elevated circulating phytanic acid concentration, Decreased liver fu...	OMIM:614871
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Synovitis, Knee osteoarthritis, Iridocyclitis, Oligoarthr...	ORPHA:85408
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Dry skin, Abnormal circulating thyroglobulin concentration, Hypercho...	ORPHA:90674
Congenital Heart Block	Pallor, Cyanosis	ORPHA:60041
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Japanese Encephalitis	Infectious encephalitis, Increased circulating antibody level, Pulmonary edema, Hyponatremia, Neu...	ORPHA:79139
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:617180
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating cholesterol concentration	OMIM:213700
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Prolonged neonatal jaundice, Urinary incontinence	OMIM:618868
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Low posterior hairline, Neonatal hyperbilirubinemia, Hypogonadism, Low anterior hairline	ORPHA:73272
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:607143
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myopathy, Elevated circu...	OMIM:617713
Beckwith-Wiedemann Syndrome	Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycy...	ORPHA:116
Reactive Arthritis	Inflammation of the large intestine, Recurrent urinary tract infections, Osteomyelitis, Abnormal ...	ORPHA:29207
Von Hippel-Lindau Disease	Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas	ORPHA:892
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas...	ORPHA:90003
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Necrotizing Enterocolitis	Ascites, Leukocytosis, Hyponatremia, Peritonitis, Thrombocytopenia, Neutropenia, Neonatal sepsis	ORPHA:391673
Mednik Syndrome	Hepatic fibrosis, Erythema, Cholestasis, Death in childhood, Death in infancy, Neonatal death, Ci...	OMIM:609313
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Nail-Patella Syndrome	Triceps aplasia, Quadriceps aplasia, Biceps aplasia, Absence of pectoralis minor muscle, Renal in...	OMIM:161200
Immune-Mediated Necrotizing Myopathy	Skin rash, Elevated circulating creatine kinase concentration, Myositis, Myocarditis, Abnormal pu...	ORPHA:206569
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia	OMIM:266150
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or activity, Hyperammonemi...	ORPHA:391428
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin con...	ORPHA:90673
Oculoskeletodental Syndrome	Splenomegaly, Hypocalcemia, Mucopolysacchariduria, Hypercalciuria, Hepatomegaly, Hypercalcemia	OMIM:618440
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Chronic sinus...	OMIM:620642
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, Abnormal circulating enzyme concentr...	ORPHA:79319
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Recurrent infections, Neutrop...	OMIM:620443
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Pleural effusion, Hepatomegaly	ORPHA:330001
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Lack of skin elastici...	OMIM:615381
Combined Oxidative Phosphorylation Deficiency 10	Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Pericardial ...	OMIM:614702
Immunodeficiency 32A	Lymphadenitis, Granuloma, BCGitis, Lymphadenopathy, Recurrent infections	OMIM:614893
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Addison Disease	Normocytic anemia, Thymoma, Vitiligo, Decreased female libido, Thiamine-responsive megaloblastic ...	ORPHA:85138
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Limb muscle weakness, Cardiomeg...	OMIM:266500
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Macroglossia, Ventricular septal defect, Prolonged neonatal jaundice, Hydronephros...	OMIM:214100
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Alagille Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy...	OMIM:118450
Allan-Herndon-Dudley Syndrome	Prolonged neonatal jaundice	ORPHA:59
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Familial Tumoral Calcinosis	Erythema, Hypopigmented skin patches, Hyperostosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency	OMIM:609727
Foxp1 Syndrome	Recurrent otitis media, Decreased circulating iron concentration, Recurrent upper respiratory tra...	ORPHA:391372
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Hypocalcemia, Sclerosin...	ORPHA:64744
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Type II pneu...	OMIM:263000
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Chronic infection, Abnormal pleura mor...	ORPHA:2357
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin...	ORPHA:3132
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma...	ORPHA:85445
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Hypocalcemia, Ventricular se...	OMIM:235255
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Prolonged neonatal jaundice, Jaundice	OMIM:613038
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Vascular skin abnormality	ORPHA:3137
Stevens-Johnson Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Acute hepati...	ORPHA:36426
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Distal Xq28 Microduplication Syndrome	Recurrent upper respiratory tract infections, Neonatal hyperbilirubinemia	ORPHA:293939
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration	OMIM:175780
Congenital Generalized Lipodystrophy	Hypertrichosis, Hepatic steatosis, Low anterior hairline, Low posterior hairline, Amenorrhea, Cir...	ORPHA:528
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia	OMIM:619051
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Hypoplastic nipples, Prolonged neonatal jaundice, Unconjuga...	OMIM:620186
Chromomycosis	Keratitis, Keratoconjunctivitis sicca, Lymphangiectasis, Recurrent bacterial infections, Abnormal...	ORPHA:182
Sotos Syndrome	Muscular ventricular septal defect, Otitis media, Ventricular septal defect, Atrial septal defect...	OMIM:117550
Opsismodysplasia	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:2746
Niemann-Pick Disease Type C	Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of...	ORPHA:646
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,...	ORPHA:411703
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Hypocalc...	ORPHA:1655
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Hepatic steatosi...	OMIM:614922
Von Hippel-Lindau Syndrome	Polycythemia, Multiple renal cysts, Hepatic hemangioma, Pancreatic cysts, Neoplasm of the pancreas	OMIM:193300
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent infection of the gastrointestinal tract, Leukocytosis, Recurrent urinary tract infections	ORPHA:51890
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Elevated circulating creatine kinase concentration	OMIM:620326
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarr...	ORPHA:247585
Netherton Syndrome	Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE level, Emphyse...	ORPHA:634
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste...	ORPHA:64
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Camurati-Engelmann Disease	Anemia, Bone marrow hypocellularity	OMIM:131300
Acute Adrenal Insufficiency	Normocytic anemia, Vitiligo, Hyperpigmentation of the skin, Decreased female libido	ORPHA:95409
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circulating aspartate aminotransf...	OMIM:620609
Toxic Epidermal Necrolysis	Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Acute hepati...	ORPHA:537
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Death in childhood, Cirrhosis, Hepatomegaly	OMIM:602579
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Aspiration pneumonia	ORPHA:90117
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis	ORPHA:2135
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Abnormal pleura morphology, Splenomegaly, Recurrent respiratory infections	ORPHA:584
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Erythema, Splenomegaly	ORPHA:33577
Ectodermal Dysplasia And Immunodeficiency 2	Dry skin, Splenomegaly, Chronic diarrhea, Anhidrotic ectodermal dysplasia, Hepatomegaly, Sparse h...	OMIM:612132
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Lateral ventricle dilatation, Hyperbilirubinemia, Hip contracture, Ventricular septal defect, Age...	OMIM:210710
Dyskeratosis Congenita, Autosomal Recessive 3	Bone marrow hypocellularity, Pancytopenia, Abnormality of skin pigmentation	OMIM:613988
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,...	ORPHA:436252
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal death, Neutropenia, Jaundice	OMIM:617248
Myopathy, Mitochondrial, And Ataxia	Primary amenorrhea, Pallor, Thick hair, Elevated circulating creatine kinase concentration	OMIM:617675
Anal Fistula	Leukocytosis	ORPHA:228113
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Recurrent pneumonia, Peripheral pulmonary artery stenosis, Atelectasis, Emphyse...	OMIM:613177
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic ...	OMIM:301072
Cocaine Intoxication	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Rhabdomyolysis, E...	ORPHA:90068
Sialuria	Splenomegaly, Hirsutism, Generalized hirsutism, Low posterior hairline, Hypoplastic nipples, Hepa...	OMIM:269921
Williams Syndrome	Peripheral pulmonary artery stenosis, Cholelithiasis, Abnormal circulating lipid concentration, R...	ORPHA:904
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Ectodermal dysplasia	OMIM:613576
Hurler-Scheie Syndrome	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	OMIM:607015
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Chronic otitis media, Splenomegaly, Sinusitis	ORPHA:583
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Ventricular septal defect, Elevated circulating alanine...	OMIM:243800
Fanconi Anemia	Irregular hyperpigmentation, Hypopigmented skin patches, Hypertrophic cardiomyopathy, Tetralogy o...	ORPHA:84
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Recurrent otitis media, Heparan sulfate excretion in urine, Hepatosplenomega...	OMIM:309900
Blau Syndrome	Nephropathy, Posterior uveitis, Erythema, Keratitis, Camptodactyly of finger, Abnormality of the ...	ORPHA:90340
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Splenomegaly, Decreased beta-galactosidase activity, Thin bony cortex, He...	OMIM:230600
Thyroid Hemiagenesis	Jaundice	ORPHA:95719
Fucosidosis	Decreased muscle mass, Vascular skin abnormality, Abnormality of the gallbladder, Cardiomegaly, M...	ORPHA:349
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein	ORPHA:423479
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Progeroid facial appearance, Decreased HDL cholesterol concentration, Hypertrophic cardiomyopathy...	ORPHA:280365
Nocardiosis	Lymphadenitis, Scleritis, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous abscess, Ost...	ORPHA:31204
Pancreatic And Cerebellar Agenesis	Anemia, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:609069
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Biotinidase Deficiency	Alopecia, Diarrhea, Vomiting, Hyperammonemia, Splenomegaly, Decreased circulating biotinidase con...	OMIM:253260
Urachal Cyst	Erythema, Leukocytosis, Abscess, Peritonitis, Elevated circulating C-reactive protein concentrati...	ORPHA:488
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Camurati-Engelmann Disease	Skeletal muscle atrophy, Urinary retention, Hypertrophic cardiomyopathy, Hypogonadism, Leukopenia...	ORPHA:1328
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
African Trypanosomiasis	Urinary incontinence, Myelitis, Keratitis, Conjunctivitis, Abnormality of the menstrual cycle, In...	ORPHA:3385
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Transient hyperlipidemia, Hepatic failure, Elevated circulating hepatic transaminas...	ORPHA:156
Thyroid Hypoplasia	Jaundice	ORPHA:95720
Pyomyositis	Testicular teratoma, Sepsis, Leukocytosis, Myositis, Recurrent infections, Recurrent cutaneous ab...	ORPHA:764
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ascites, Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi...	OMIM:616897
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Hyperammonemia, Death in infancy	OMIM:610678
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Cycli...	OMIM:232240
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Elevated c...	ORPHA:2088
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Pulmonary hypoplasia	ORPHA:3035
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Right ventricular hype...	ORPHA:70589
Cartilage-Hair Hypoplasia	Cardiomyopathy, Hypocalcemia, Hepatomegaly, Mucopolysacchariduria, Aplasia/Hypoplasia of the abdo...	ORPHA:175
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Micropenis, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Timothy Syndrome	Pneumonia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Ca...	OMIM:601005
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Hypertrophic cardi...	ORPHA:308552
Chronic Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Urinary bladder inflammation, Fasciitis,...	ORPHA:99921
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypogonadism, Megaloblastic anemia	ORPHA:79351
Wolfram Syndrome	Anemia, Nephropathy, Dysuria, Abnormal mesentery morphology	ORPHA:3463
Cog5-Cdg	Urinary incontinence, Joint contracture of the hand, Elevated circulating hepatic transaminase co...	ORPHA:263487
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce...	OMIM:617913
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Increased C-peptide level, Hepatic steatosis, Hypertriglyceridemia	OMIM:615238
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Cystic liver disease, Bilobed right lung, Bi...	OMIM:612284
Steinert Myotonic Dystrophy	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Decreased response to gr...	ORPHA:273
Rat-Bite Fever	Anemia, Pancreatitis, Lymphadenitis, Abdominal aseptic abscess	ORPHA:31205
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Argininosuccinic Aciduria	Hepatic fibrosis, Dry hair, Vomiting, Trichorrhexis nodosa, Elevated circulating aspartate aminot...	OMIM:207900
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Hyperammonemia, Hyperglutaminemia, Cirrhosi...	OMIM:215700
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Myopathy, Hematuria, Hypophosphatemia, Hepatomegal...	OMIM:219800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Vici Syndrome	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgG2 level, Recurren...	ORPHA:1493
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, Recurrent respir...	ORPHA:354
Juvenile Polyposis Of Infancy	Anemia, Refractory anemia, Hypoalbuminemia	ORPHA:79076
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Telangiectasia, Hepatic arteriovenous malformation	OMIM:175050
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Bronchiectasis, Pulmona...	OMIM:619708
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Recurrent pneumonia, Recurrent otitis media, Hypertrophic ca...	OMIM:252500
Rheumatic Fever	Erythema, Constipation, Pallor	ORPHA:3099
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Tsh-Secreting Pituitary Adenoma	Irregular menstruation, Male hypogonadism, Vomiting, Abnormality of the menstrual cycle, Hypogona...	ORPHA:91347
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Elevated ci...	OMIM:212138
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Prog...	OMIM:619127
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Macroglossia, Cholestasis, Hepatosplenom...	OMIM:266920
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology, Osteomyelit...	OMIM:619475
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Proteus-Like Syndrome	Irregular hyperpigmentation, Thymus hyperplasia, Subcutaneous lipoma, Hyperostosis, Splenomegaly,...	ORPHA:2969
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Aspiration pneumonia, Heparan sulfate excretion in urine, Urinary glycosam...	ORPHA:581
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia, Pleural effusion, Recurrent skin in...	ORPHA:90186
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Alpha-Mannosidosis, Infantile Form	Pneumonia, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopenia, Otitis media, Re...	ORPHA:309282
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect...	OMIM:115197
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver...	OMIM:261515
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Genetic Transient Congenital Hypothyroidism	Prolonged neonatal jaundice, Increased circulating thyroglobulin concentration	ORPHA:226316
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Generalized muscular app...	OMIM:608594
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ...	ORPHA:70578
Viss Syndrome	Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Increased circulating IgE le...	OMIM:619472
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Myocardi...	ORPHA:31824
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Dysphagia, Pallor	ORPHA:13
Sporadic Pheochromocytoma/Secreting Paraganglioma	Nausea, Pallor, Hypercalcemia, Flushing	ORPHA:276621
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Interlobular septal thickening	OMIM:265450
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Eczematoid dermatitis, Cryptorchidism	ORPHA:96097
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Renal hypoplasia, Unilateral renal agenesis, Micropenis, Anemia	OMIM:614083
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E...	OMIM:618052
Infant Acute Respiratory Distress Syndrome	Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema	ORPHA:70587
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Gitelman Syndrome	Pericardial effusion, Iron deficiency anemia, Neoplasm of the pancreas	ORPHA:358
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re...	OMIM:608643
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Death in infancy	OMIM:614862
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Atelectasis, Ascites, Splenomegaly, Hypoplastic nipples, Hepatomegaly, Pulmo...	OMIM:269860
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Infertility, Absent gallbladder, Glue ear, ...	ORPHA:3310
Trisomy 8P	Peripheral pulmonary artery stenosis, Recurrent upper respiratory tract infections, Annular pancr...	ORPHA:264450
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent aspiration pneumonia, Abnormality of humoral immunity, Septic arthritis, Fasciitis, Ost...	ORPHA:642
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Left ventricular noncompaction, Patent f...	OMIM:619167
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Limb muscle weakness, 3-Methylglutaconic aciduria, Increased hepatic glycogen con...	OMIM:619259
Childhood Absence Epilepsy	Pallor, Abnormal social behavior	ORPHA:64280
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:319487
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Mounier-Kühn Syndrome	Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis	ORPHA:3347
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:97290
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ...	OMIM:130050
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Abnormal circulating protein concentration, Elevated circulating carcinoemb...	ORPHA:264675
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri...	OMIM:162000
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Hypoplas...	OMIM:617022
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Zollinger-Ellison Syndrome	Erythema, Gastrointestinal hemorrhage, Diarrhea, Hematochezia, Esophagitis, Intestinal obstructio...	ORPHA:913
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Lung abscess, Recurrent respir...	OMIM:610910
Chops Syndrome	Cryptorchidism, Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia	OMIM:616368
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Multiple lentigines, Ventricular septal defect, Hyperpigmentation of...	OMIM:607721
Behçet Disease	Acne, Recurrent aphthous stomatitis, Pleural effusion, Splenomegaly, Infectious encephalitis, Inc...	ORPHA:117
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni...	ORPHA:870
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin...	OMIM:606056
Transketolase Deficiency	Increased level of ribose in urine, Elevated circulating ribitol concentration, Abnormal heart mo...	ORPHA:488618
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Jaundice, Hyperkalemia	ORPHA:90790
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Recurrent Respiratory Papillomatosis	Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel...	ORPHA:60032
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Periodontitis, Atelectasis, Cryptorchidism, Hyponatremia, Hypokalemia, Hypop...	ORPHA:534
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Pallor, Cyanosis	ORPHA:137675
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Decreased response to growth hormone stimulation test, Hypocalcemia, Cryptorch...	OMIM:241410
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Mucopolysaccharidosis, Type Vi	Pneumonia, Hepatomegaly, Recurrent upper respiratory tract infections, Splenomegaly	OMIM:253200
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased circulating carnitine concentration, Abnormal circulating carnitine concentration, Aspi...	ORPHA:431361
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Atelectasis, Splenic cyst, Cryptorchidism, Cardiomegaly, Pancreati...	OMIM:620371
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Recu...	ORPHA:86816
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Aspiration pneumonia	ORPHA:79255
Menkes Disease	Sparse hair, Gastrointestinal hemorrhage, Spontaneous hematomas, Dry skin, Prolonged neonatal jau...	ORPHA:565
Scleromyxedema	Paraproteinemia, Abnormal pulmonary artery morphology, Abnormal lung morphology, Elevated circula...	ORPHA:167635
Alternating Hemiplegia Of Childhood	Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Thin eyebrow, Pallor, Constipation, Dysphagia, Flu...	ORPHA:2131
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltrat...	OMIM:615508
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Congenital Tricuspid Valve Dysplasia	Cyanosis, Patent foramen ovale, Abnormal tricuspid valve annulus morphology, Cardiomegaly, Tricus...	ORPHA:555874
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Sotos Syndrome	Decreased fertility, Hip contracture, Ventricular septal defect, Atrial septal defect, Abnormalit...	ORPHA:821
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:435651
Noonan Syndrome	Dilatation of the renal pelvis, Juvenile myelomonocytic leukemia, Bruising susceptibility, Hypert...	ORPHA:648
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Polycythemia, Palmar telangiectasia, Tongue telangiectasia, Nail bed ...	OMIM:600376
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, Decreased circulating IgA level, Hypoparathyroidism, Hypertriglyceridemia...	ORPHA:369837
Fabry Disease	Abnormal circulating lipid concentration, Emphysema, Hyperlipidemia, Left ventricular hypertrophy...	ORPHA:324
Meckel Syndrome, Type 7	Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, Right ventricular hypert...	OMIM:267010
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets	OMIM:614473
8P Inverted Duplication/Deletion Syndrome	Aplasia/Hypoplasia of the gallbladder, Cryptorchidism	ORPHA:96092
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Hereditary Pheochromocytoma-Paraganglioma	Nausea, Pallor, Hypercalcemia, Flushing	ORPHA:29072
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Splenomegaly, Heterochromia ...	ORPHA:163746
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Urinary incontinence, Impotence, Cardiomyopathy	OMIM:105210
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of the spleen, Crosse...	ORPHA:2538
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Anaplastic Thyroid Carcinoma	Nodular goiter, Lymphadenopathy, Neoplasm of the lung, Goiter	ORPHA:142
Metachromatic Leukodystrophy	Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology	ORPHA:512
Pseudomyxoma Peritonei	Ascites, Inflammation of the large intestine, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Thyroid Ectopia	Jaundice, Dry skin	ORPHA:95712
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan...	OMIM:620306
Acquired Generalized Lipodystrophy	Progeroid facial appearance, Abnormal circulating lipid concentration, Cardiomyopathy, Hepatic st...	ORPHA:79086
Tay-Sachs Disease	Pallor	OMIM:272800
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Cryptorchidism	ORPHA:457485
Plague	Inflammation of the large intestine, Sepsis, Lymphadenitis, Chapped lip, Enlarged mesenteric lymp...	ORPHA:707
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Glycogen Storage Disease Due To Acid Maltase Deficiency	Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Lower limb muscle ...	ORPHA:365
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Premature skin wrinkling, Abnormal heart valve morphology, Ventricular sep...	ORPHA:363705
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:98908
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Occipital Horn Syndrome	Coarse hair, Gastroesophageal reflux, Bruising susceptibility, Hepatitis, Cholestasis, Gastropare...	ORPHA:198
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Increased circulating IgE level, Congenital diaphragmatic hernia, V...	ORPHA:373
Hurler Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Endocardial fibroelastosis, Splenomegaly, Abnorm...	ORPHA:93473
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal...	ORPHA:1329
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:424019
Cystic Fibrosis	Cor pulmonale, Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatos...	OMIM:219700
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Neoplasm...	ORPHA:1332
Aapoaiv Amyloidosis	Paraproteinemia, Abnormal lung morphology, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Multiple Endocrine Neoplasia Type 2	Diarrhea, Cervical lymphadenopathy, Pallor, Reduced subcutaneous adipose tissue, Neoplasm of the ...	ORPHA:653
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Emphysema, Secretory IgA deficiency, Absent gallbladder, Unilate...	ORPHA:500150
Developmental And Epileptic Encephalopathy 95	Multiple joint contractures, Elevated circulating alkaline phosphatase concentration, Cardiomegal...	OMIM:618143
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration	OMIM:253700
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis	ORPHA:90368
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration, Parathyroid adenoma	ORPHA:122
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media, Cryptorchidism, Hypoplastic nipples, Thrombocytopenia, Duplication of in...	OMIM:122470
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the ...	ORPHA:538
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin, Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Constipation	OMIM:218700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Dubowitz Syndrome	Cutis marmorata, Thrombocytopenia, Abnormality of skin pigmentation, Anemia, Craniosynostosis, Ab...	ORPHA:235
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Increased circulating prolactin concentration, Aspirati...	ORPHA:438213
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Lymphatic Malformation 6	Chylothorax, Intestinal lymphangiectasia, Ascites, Pleural effusion, Splenomegaly, Hydrocele testis	OMIM:616843
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci...	ORPHA:75565
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Alzheimer Disease, Familial, 1	Neurofibrillary tangles, Decreased circulating GABA concentration	OMIM:104300
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanos...	OMIM:187300
Martinez-Frias Syndrome	Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal...	OMIM:601346
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cy...	OMIM:261740
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Hypogonadism, Jaundice, Elevated circulating hepatic transaminase concentration, Osteopenia	OMIM:614231
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Xanthinuria, Type I	Hypouricemia, Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithi...	OMIM:278300
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn...	ORPHA:324410
Complement Component 5 Deficiency	Generalized seborrheic dermatitis, Recurrent Neisserial infections, Decreased circulating complem...	OMIM:609536
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Cryptorchidism	ORPHA:3409
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos...	ORPHA:412
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia	ORPHA:79264
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Blepharitis, Erythroderma, Pustule	OMIM:614328
Ellis Van Creveld Syndrome	Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs, Cryptorchidism	ORPHA:289
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Recurr...	ORPHA:586
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia...	ORPHA:99889
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperoxaluria	OMIM:601539
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
Beck-Fahrner Syndrome	Cardiomegaly, Facial hypotonia, Ventricular septal defect	OMIM:618798
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Cryptorchidism	ORPHA:98905
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Pulmonary hypoplasia	OMIM:617925
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Decreased testicular size, Cryptorchidism	ORPHA:1867
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Myotubular Myopathy With Abnormal Genital Development	Unilateral cryptorchidism, Atelectasis, Bilateral cryptorchidism	OMIM:300219
Cockayne Syndrome A	Irregular menstruation, Pigmentary retinopathy, Progeroid facial appearance, Retinal pigment epit...	OMIM:216400
Kindler Epidermolysis Bullosa	Anemia, Erythema, Cutaneous photosensitivity, Abnormality of skin pigmentation	ORPHA:2908
Esophageal Atresia	Gastroesophageal reflux, Vomiting, Esophagitis, Pallor, Cyanosis, Dysphagia	ORPHA:1199
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart mor...	OMIM:301111
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Familial Aortic Dissection	Cardiomegaly, Cutis marmorata	ORPHA:229
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia, Cryptorchidism	OMIM:300712
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Hypophosphatemic rickets, Renal artery stenosis, Dilated cardiomyopathy	OMIM:208000
Joubert Syndrome 21	Splenomegaly, Chronic sinusitis, Pulmonary hypoplasia	OMIM:615636
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetopro...	OMIM:249000
Zttk Syndrome	Unilateral lung agenesis, Absent gallbladder	OMIM:617140
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Biliary at...	ORPHA:2255
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen...	OMIM:245600
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Abnormal thymus morpholog...	ORPHA:2463
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections, Keratoconjunctivitis sicca, Erythroderma	OMIM:601675
Incontinentia Pigmenti	Erythema, Irregular hyperpigmentation, Hypopigmented skin patches, Eosinophilia, Telangiectasia o...	ORPHA:464
Monosomy 18Q	Secondary growth hormone deficiency, Decreased circulating IgA level, Bilateral cryptorchidism	ORPHA:1600
Subcorneal Pustular Dermatosis	Pustule, Rheumatoid arthritis, Increased circulating antibody level	ORPHA:48377
Pancreatic Agenesis-Holoprosencephaly Syndrome	Reduced C-peptide level, Hypoamylasemia, Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Unilateral renal atrophy, Pyelonephritis, Torticollis, Oligozoospermia, Renal dysplasia	OMIM:314300
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Lateral ventricle dilatation, Ureteropelvic junction obstruction, At...	OMIM:300896
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Cockayne Syndrome B	Pigmentary retinopathy, Progeroid facial appearance, Splenomegaly, Reduced subcutaneous adipose t...	OMIM:133540
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Decreased muscle mass, Elbow flexion contractu...	ORPHA:2614
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Ctcf-Related Neurodevelopmental Disorder	Highly arched eyebrow, Gastroesophageal reflux, Hypertrichosis, Long eyelashes, Thick eyebrow, Pr...	ORPHA:363611
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Cyanosis, Ventri...	ORPHA:3384
Mosaic Variegated Aneuploidy Syndrome	Ascites, Subvalvular aortic stenosis, Atrial septal defect, Abnormality of skin pigmentation, Mul...	ORPHA:1052
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Camptodactyly of toe, Fragile skin, Cardiomyopathy	ORPHA:158687
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Juvenile Polyposis Syndrome	Hepatic arteriovenous malformation, Anemia, Extrahepatic portal hypertension, Hypoproteinemia, Ne...	ORPHA:2929
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Abnormal circulating protein concentration, Intraalveolar phospholipid accu...	ORPHA:747
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Macroglossia, Hypogonadotropic hypogonadism, Agenesis of corpus call...	ORPHA:226307
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Abnormal heart morphology, Multiple muscular ventricular septal defe...	ORPHA:391641
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Recurrent lower respiratory tract infections, Atelectasis, Highly elevated creatine kinase	ORPHA:258
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:618329
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Infantile Neuroaxonal Dystrophy	Aspiration pneumonia	ORPHA:35069
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia	ORPHA:216866
Tay-Sachs Disease	Tremor, Dystonia, Exaggerated startle response, Laryngeal dystonia	ORPHA:845
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:618458
Trisomy 10P	Absent gallbladder	ORPHA:171929
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein, Neurofibrillary tangles	ORPHA:1020
Encephalitis Lethargica	Recurrent viral infections, Increased circulating antibody level	ORPHA:83600
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles	OMIM:608907
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles	DECIPHER:48
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Cholera	Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration	ORPHA:173
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit...	ORPHA:728
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer...	OMIM:618500
Heart Defects, Congenital, And Other Congenital Anomalies	Pulmonary artery stenosis, Absent gallbladder, Pancreatic hypoplasia, Biliary atresia	OMIM:600001
Gerstmann-Straussler Disease	Neurofibrillary tangles, Lower limb muscle weakness	OMIM:137440
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Atrioventricular canal defect, Splenomegaly, Horseshoe kidney	OMIM:617088
Aspartylglucosaminuria	Splenomegaly, Macroorchidism, Arthritis, Hepatomegaly, Recurrent respiratory infections, Chronic ...	ORPHA:93
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles	OMIM:606688
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections	OMIM:614748
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles	OMIM:619132
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal hemidiaphragm morphology, Abnormal heart morphology, Tetralogy of F...	ORPHA:980
Aspartylglucosaminuria	Macroglossia, Aspartylglucosaminuria, Reduced tissue aspartylglucosaminidase activity, Neutropeni...	OMIM:208400
Alzheimer Disease 3	Neurofibrillary tangles	OMIM:607822
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Cryptorchidism,...	ORPHA:2273
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Cryptorchidism, Hypoplasia of the thymus, Hypertriglyceridemia, Recurrent respiratory ...	OMIM:264090
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis	OMIM:217090
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Neurofibrillary tangles	OMIM:607485
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery, Abnormal intrahepatic bile duct morphology, Hyper...	ORPHA:363618
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia	ORPHA:536467
Proteus Syndrome	Irregular hyperpigmentation, Thymus hyperplasia, Vascular skin abnormality, Central heterochromia...	ORPHA:744
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen...	OMIM:606002
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Meier-Gorlin Syndrome 4	Emphysema, Breast hypoplasia, Cryptorchidism	OMIM:613804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Doors Syndrome	Aspiration pneumonia, Adrenal hyperplasia, Thrombocytosis	ORPHA:79500
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Macroglossia, Cardiomegaly, Ventricular septal defect	ORPHA:96191
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s...	OMIM:615067
Double Outlet Left Ventricle	Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atre...	ORPHA:3427
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles	OMIM:616840
Slc39A8-Cdg	Hypomanganesemia, Recurrent infections, Abnormal blood zinc concentration, Abnormality of the liver	ORPHA:468699
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, Cutis marmorata, Bruising susceptibility	ORPHA:91387
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Ventricular septal defect, Cardiomega...	ORPHA:3472
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Trichinellosis	Increased circulating IgE level, Meningitis, Conjunctivitis, Skin rash	ORPHA:863
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Exaggerated startle response	OMIM:620423
Cysticercosis	Iridocyclitis, Increased anti-parasite IgE antibody level, Infectious encephalitis, Increased cir...	ORPHA:1560
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Adult-Onset Dystonia-Parkinsonism	Abnormal circulating creatine kinase concentration, Neurofibrillary tangles, Hypomimic face	ORPHA:199351
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia	ORPHA:1018
Neurodegeneration With Brain Iron Accumulation 2B	Neurofibrillary tangles	OMIM:610217
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections	OMIM:219100
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Lateral ventricle dilatation, Pyelonephritis, Renal ...	OMIM:181270
Loeys-Dietz Syndrome 4	Emphysema, Eosinophilic infiltration of the esophagus, Pneumothorax	OMIM:614816
Meier-Gorlin Syndrome 6	Emphysema, Recurrent respiratory infections, Cryptorchidism, Decreased response to growth hormone...	OMIM:616835
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Cholecystitis	ORPHA:309271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Elevated circulating creatine kinase concentration	OMIM:253280
Bickerstaff Brainstem Encephalitis	Pneumonia, Severe infection, Respiratory tract infection, Recurrent gastroenteritis	ORPHA:79138
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Recurrent urinary tract infections, Em...	ORPHA:90349
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Cardiomegaly, Pallor, Cyanosis	ORPHA:99125
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Aspiration pneumonia, Cry...	OMIM:602535
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corpor...	ORPHA:79280
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Cryptorchidism, Hepatoblastom...	ORPHA:1465
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Peters-Plus Syndrome	Bilobate gallbladder, Cryptorchidism, Biliary tract abnormality	OMIM:261540
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration	ORPHA:521411
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia, Recurrent urinary tract infections	ORPHA:99027
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Alzheimer Disease 4	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:606889
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Incre...	ORPHA:79318
Meier-Gorlin Syndrome 1	Emphysema, Breast hypoplasia, Cryptorchidism	OMIM:224690
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ...	ORPHA:733
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Cerebral amyloid angiopathy	OMIM:117300
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:424016
Autosomal Dominant Cutis Laxa	Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema, Pyelonephritis, Bronchiectasis	ORPHA:90348
Supranuclear Palsy, Progressive, 2	Retrocollis, Neurofibrillary tangles	OMIM:609454
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent otitis media, Emphys...	OMIM:245150
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Recurrent urinary tract infections, Otitis media, Cryptorchidism, Recurrent respirator...	ORPHA:353281
Neonatal Marfan Syndrome	Emphysema, Decreased testicular size	ORPHA:284979
Supranuclear Palsy, Progressive, 1	Retrocollis, Neurofibrillary tangles	OMIM:601104
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Marfan Syndrome	Emphysema, Premature osteoarthritis, Pneumothorax, Pulmonary artery dilatation	OMIM:154700
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia	ORPHA:2020
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Recurrent urinary tract infections, Otitis media, Cryptorchidism, Recurrent respirator...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Recurrent urinary tract infections, Otitis media, Cryptorchidism, Recurrent respirator...	ORPHA:353277
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Chand Syndrome	Atelectasis	ORPHA:1401
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Aspiration pneumonia	ORPHA:444077
Marfan Syndrome	Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation, Arthralgia/arthritis	ORPHA:558
Patent Urachus	Recurrent gram-negative bacterial infections, Cystocele, Recurrent urinary tract infections	ORPHA:431341
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Osteopenia, Cardiomegaly, Osteolytic defects o...	OMIM:182250
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Aspiration pneumonia	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Aspiration pneumonia	ORPHA:93924
Cutis Laxa, Autosomal Recessive, Type Ib	Emphysema, Pulmonary artery aneurysm, Pulmonary artery dilatation	OMIM:614437
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Yunis-Varon Syndrome	Hypoplastic nipples, Absent nipple, Cryptorchidism, Aspiration pneumonia	OMIM:216340

Histopathology

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

There is no histopathology data for Spta1

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 Spta1.

No publications found that use IMPC mice or data for Spta1.

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

MGI Allele	Allele Type	Produced
Spta1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Spta1^em1(IMPC)Bay	Exon Deletion	Mice

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: Spta1 MGI:98385

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

Eye Morphology

Eye Morphology

X-ray

Eye Morphology

X-ray

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Spta1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data