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Gene: Slc4a1 MGI:109393

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

solute carrier family 4 (anion exchanger), member 1

Synonyms:

erythrocyte membrane protein band 3, Empb3, l11Jus51, band 3, Ae1, CD233

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc4a1 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 Slc4a1 (7 diseases)
Human diseases predicted to be associated with Slc4a1 (2168 diseases)

The table below shows human diseases associated to Slc4a1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos...	OMIM:611590
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800

The table below shows human diseases predicted to be associated to Slc4a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Short stature, Edema, Small for gestational age, Ch...	ORPHA:97362
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos...	OMIM:611590
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ...	OMIM:314050
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia...	ORPHA:848
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Increased serum lactate, H...	OMIM:613845
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos...	OMIM:615234
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Dehydration, Failure to thrive, Anemia	ORPHA:28
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m...	OMIM:609628
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Azoospermia, Decreased mean corpuscul...	ORPHA:300298
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Distal Renal Tubular Acidosis	Hypocitraturia, Renal cyst, Dehydration, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight pr...	ORPHA:18
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Ecchymosis, Thrombocytopenia	ORPHA:88
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Nephronophthisis	Anemia	ORPHA:655
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis	OMIM:604416
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, N...	ORPHA:79312
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Polyhydramnios, Hyper...	OMIM:241500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Atransferrinemia	Hypochromic anemia	OMIM:209300
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Lacticaciduria, Microcytic anemia	OMIM:618811
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina...	OMIM:224120
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Congenital Atransferrinemia	Anemia	ORPHA:1195
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel...	OMIM:187800
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia	OMIM:242880
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, Hydrops fetalis, Dehydration, Lactic acidosis, 3-Methylg...	OMIM:557000
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased serum lactate, Increased ...	OMIM:600462
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Small ...	OMIM:612073
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo...	ORPHA:98870
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Thrombocyto...	OMIM:606054
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Increased serum lactat...	OMIM:274150
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Small for gestational age, Conjugated hyperbilirubinemia, Hepatic melanin-l...	OMIM:208085
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem...	OMIM:619897
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet...	OMIM:300367
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo...	ORPHA:824
Infantile Liver Failure Syndrome 1	Macrocytic anemia, Anemia	OMIM:615438
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Increased serum lactate...	OMIM:619147
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Erythema, Cirrhosis, Microcytic anemia	ORPHA:79278
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydrati...	ORPHA:27
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Purpura	ORPHA:529
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Lactic acidosis, Hypoalbuminemia, ...	OMIM:618805
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Nonimmune hydrops ...	OMIM:617021
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic ac...	OMIM:251110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Metabolic ketoacidosis, Stage 5 chronic kidney disease, Hyp...	OMIM:251000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Drug-Induced Lupus Erythematosus	Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:231111
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Reticular Dysgenesis	Abnormality of neutrophils, Dehydration, Decreased circulating antibody level, Weight loss, Leuko...	ORPHA:33355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Dehydration, Nephroc...	OMIM:143880
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Increased serum lactate, Failure to thrive, Metabolic acidosis, Anemia	OMIM:610090
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Metabolic acidosis, Hemolytic anemia, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Decreased body weight, Short stature, Ketoacidos...	ORPHA:1667
3-Methylglutaconic Aciduria, Type V	Hypospadias, Postnatal growth retardation, Microvesicular hepatic steatosis, Normochromic microcy...	OMIM:610198
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Galactosemia I	Hemolytic anemia, Hepatomegaly, Increased level of galactitol in plasma, Metabolic acidosis, Amin...	OMIM:230400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemi...	OMIM:246450
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Hyperlysinemia, Type I	Anemia	OMIM:238700
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, I...	OMIM:251900
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Dehydration, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Growth delay, Dis...	OMIM:602722
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Ecchymosis, Decreased g...	ORPHA:340
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
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
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia	ORPHA:2575
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Dermatitis Herpetiformis	Skin vesicle, Erythema, Microcytic anemia	ORPHA:1656
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia	OMIM:236270
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia	OMIM:300752
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenome...	OMIM:232220
Pancreatic Colipase Deficiency	Megaloblastic anemia	ORPHA:309108
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Orotic Aciduria	Failure to thrive, Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unres...	OMIM:258900
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Failure to thrive, Elevated circulating alph...	OMIM:276700
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Hypocalcemia, Autosomal Dominant 1	Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,...	OMIM:601198
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S...	ORPHA:90064
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepa...	OMIM:619013
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenop...	ORPHA:507
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th...	OMIM:600901
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration...	OMIM:619743
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Short stature, Microcytic anemia, Failure to thrive, HbH hemoglobin	ORPHA:98791
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop...	OMIM:257200
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hepatomegaly, Increased serum lactate, Lactic acidosis, Growth delay, Pallo...	OMIM:613561
Cold Agglutinin Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Pearson Syndrome	Elevated lactate:pyruvate ratio, Hydrops fetalis, Renal cyst, Dehydration, Lactic acidosis, Abnor...	ORPHA:699
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Failure to thrive, Proteinuria, Edema, Congenital hypoplastic anemi...	ORPHA:77297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Short stature, Splenomegaly, Spherocytosis, Growth delay	ORPHA:251066
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosi...	OMIM:613090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th...	OMIM:227650
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Edema, Increased serum lactate, Ketoacidosis, Leukocytosis, Hyperammonem...	ORPHA:134
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Mitochondrial Dna Depletion Syndrome 19	Increased serum lactate, Hypospadias, Microcytic anemia	OMIM:618972
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Increased serum lactate, Elevated circulating creatinine concentratio...	OMIM:617872
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Klippel-Trénaunay Syndrome	Hepatomegaly, Edema, Microcytic anemia, Hydrops fetalis, Hematuria, Ascites	ORPHA:90308
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Short stature, Lymphadenopathy, Microcytic anemia	OMIM:619750
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Isovaleric Acidemia	Pancytopenia, Ketoacidosis, Hyperglycinuria, Dehydration, Metabolic acidosis, Leukopenia, Bone ma...	OMIM:243500
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:603278
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc...	ORPHA:251004
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Metabolic acidosis, Hyperphos...	ORPHA:94086
Wilson Disease	Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Aminoaciduria, Hypoalbumin...	OMIM:277900
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio...	ORPHA:69076
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Increased serum lactate, Leukocytosis, Jaundi...	ORPHA:20
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog...	OMIM:611555
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tub...	OMIM:616457
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Renal...	OMIM:613388
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Microcytic anemia	OMIM:618451
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Dilated Cardiomyopathy With Ataxia	Hypoplasia of penis, Increased serum lactate, Microvesicular hepatic steatosis, Hypochromic micro...	ORPHA:66634
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Hypokalemic hypoc...	OMIM:602522
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Weight ...	ORPHA:69077
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Dehydration, Chole...	OMIM:619377
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, B lymphocytopenia, Neutropenia, Lympho...	ORPHA:508542
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Failure to thrive, Hepatocellular carcinom...	ORPHA:2088
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Failure to thrive, Dicarboxylic aciduria, Ketoacid...	ORPHA:289504
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th...	OMIM:227645
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Failure to thrive, Postnat...	OMIM:227810
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Congenital Disorder Of Glycosylation, Type Iq	Dry skin, Cutis laxa, Microcytic anemia	OMIM:612379
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
Cystinosis, Nephropathic	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophospha...	OMIM:219800
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperli...	OMIM:232240
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Small for gestational age, Cardiomegaly, Lactic acidosis, Intrauterine growth retard...	OMIM:620135
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia	OMIM:618116
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia	ORPHA:100025
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Petechiae, Elevated circulating C-reactive protein conce...	ORPHA:90051
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Skin ulcer, An...	ORPHA:231226
Lesch-Nyhan Syndrome	Short stature, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuri...	OMIM:300322
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Short stature, Small for gestational age, Splenomega...	OMIM:618440
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Granulomatous Slack Skin	Redundant skin, Hypercalcemia, Erythema, Abnormal lymph node morphology, Nephrocalcinosis, Cutis ...	ORPHA:33111
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Acatalasemia	Microcytic anemia	ORPHA:926
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Chronic metabolic acidosis, Ne...	OMIM:266130
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Porphyria, Acute Hepatic	Hemolytic anemia, Failure to thrive	OMIM:612740
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome...	OMIM:242530
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Short stature, Small for gestational age, Thr...	OMIM:260400
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Short stature, Portal hypertension, Hepatitis, Hypochromic microcytic anemia...	ORPHA:440713
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Granulocytopenia	OMIM:606164
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc...	OMIM:613404
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
3-Methylglutaconic Aciduria Type 4	Lactic acidosis, Failure to thrive, 3-Methylglutaconic aciduria, Thrombocytopenia	ORPHA:67048
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia	ORPHA:101028
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchl...	ORPHA:3337
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block...	ORPHA:398124
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Increased serum lactate, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methy...	ORPHA:445038
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Po...	ORPHA:2169
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, 3-Methylglutaconic aciduria, Gra...	OMIM:302060
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Short stature, Microcytic anemia, Moderate intrauterine growth retardation, Severe postnatal grow...	ORPHA:293967
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sho...	ORPHA:96180
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Delayed puberty, Nephrolithiasis, Lacti...	OMIM:232200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Lactic acidosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, ...	ORPHA:79259
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki...	OMIM:300009
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ...	ORPHA:860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive	OMIM:239199
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis, Failure to thrive, Methylmalonic aciduria, Dehydration	OMIM:614265
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos...	OMIM:601678
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret...	OMIM:614732
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Non...	OMIM:619003
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Growth de...	OMIM:614857
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Megalo...	ORPHA:79282
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Dehydra...	ORPHA:230
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia, Purpura	ORPHA:3204
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration...	ORPHA:157215
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic...	ORPHA:276556
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Gl...	ORPHA:534
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
H Syndrome	Hypertriglyceridemia, Short stature, Abnormality of the kidney, Microcytic anemia, Hepatosplenome...	ORPHA:168569
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo...	OMIM:300554
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Leukocytosis, Abnormal b...	ORPHA:31824
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Large for gestational ...	OMIM:616026
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Severe short stature, Short stature, Small for gestational age, Hyper...	OMIM:127000
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H...	ORPHA:2330
Bartter Syndrome Type 4	Hyponatremia, Hypokalemic metabolic alkalosis, Failure to thrive, Small for gestational age, Poly...	ORPHA:89938
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Shigellosis	Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, ...	ORPHA:810
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic acidosis, Hyp...	OMIM:145600
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Th...	ORPHA:2785
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Oliguria, We...	ORPHA:514
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren...	OMIM:243910
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm...	ORPHA:158029
Tufted Angioma	Anemia, Petechiae, Thrombocytopenia, Purpura	ORPHA:1063
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinos...	OMIM:241200
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Transient Neonatal Diabetes Mellitus	Small for gestational age, Abnormality of the kidney, Dehydration, Diabetic ketoacidosis, Abnorma...	ORPHA:99886
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th...	OMIM:227646
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma...	ORPHA:1046
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Polyhydramnios, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal dysplasia,...	OMIM:300990
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Lactic acidosis, Aminoaciduria, Bone marrow hypocel...	OMIM:614520
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic...	ORPHA:276575
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Increased serum lactate...	OMIM:255125
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Pseudohypoparathyroidism, Type Ic	Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH a...	OMIM:612462
Mitochondrial Myopathy And Sideroblastic Anemia	Lactic acidosis, Anemia, Delayed puberty	ORPHA:2598
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Apparent Mineralocorticoid Excess	Hypokalemic metabolic alkalosis, Renal insufficiency, Failure to thrive, Short stature, Abnormal ...	ORPHA:320
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-...	ORPHA:47159
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hypospadias, Short stature, Small for gestational age, Microcytic anemi...	ORPHA:2959
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Postnatal growth retardation, Increased blood ure...	ORPHA:90321
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Hypertrophic...	ORPHA:276580
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Abnormal circu...	ORPHA:79277
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Hypocalcemia, Hypomagn...	OMIM:620152
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Polyhydramnios, Acanthocytosis, Growth delay, Poikilocytosis, Intrauterine gro...	OMIM:618947
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-reactive protein c...	ORPHA:54251
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Metabolic acidosis, Ethylmalonic aciduria, Incr...	ORPHA:26792
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin	ORPHA:90036
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Aicardi-Goutieres Syndrome 9	Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepato...	OMIM:619487
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated lactate:pyruvate ratio, Ketonuria, Metabolic ketoacidosis, Increased serum lactate, Keto...	OMIM:615453
Combined Oxidative Phosphorylation Deficiency 14	Increased serum lactate, Copper accumulation in liver, Lactic acidosis, Anemia, Aminoaciduria, Gr...	OMIM:614946
Oslam Syndrome	Anemia	OMIM:165660
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Dehydration, Renal tubular ...	ORPHA:213
Fumarase Deficiency	Failure to thrive, Increased urine succinate level, Bilateral fetal pyelectasis, Polyhydramnios, ...	OMIM:606812
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Palpebral edema, Short stature, S...	ORPHA:99843
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,...	OMIM:618253
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Lactic acidosis, Aminoac...	ORPHA:436271
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Polyhydramnios, Increased serum lactate, Dehydration, Growth delay, Leukopenia, 3-Met...	OMIM:616271
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Normochromic anemia, Chroni...	OMIM:615512
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia	ORPHA:858
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Hyperphosphatemia, Hypocalcemic seizur...	ORPHA:93325
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Hyperglutamatemia, Increased serum lactate, Low plasma citrulline, Hyperammone...	OMIM:620358
Sengers Syndrome	Increased serum lactate, Lactic acidosis, Growth delay, 3-Methylglutaconic aciduria, Exercise-ind...	OMIM:212350
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Metabolic acidosis, Failure to thrive	OMIM:264350
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Rosaï-Dorfman Disease	Anemia	ORPHA:158014
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallo...	ORPHA:99931
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp...	OMIM:239000
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Pseudohypoparathyroidism, Type Ia	Short stature, Obesity, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration,...	OMIM:103580
Juvenile Nephropathic Cystinosis	Dehydration, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuri...	ORPHA:411634
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Ascites, Anemia, Hepatomegaly	ORPHA:2123
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Abnormality of thrombocytes, Splenomegaly,...	OMIM:612840
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Short stature, Elevated circulating C-reactive protein concentration, Hypochromic m...	OMIM:619423
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura	OMIM:620296
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lym...	OMIM:615895
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh...	ORPHA:90060
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Lympha...	OMIM:150550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased serum lactate, Renal tubular dysfunction,...	OMIM:220110
Amme Complex	Hematuria, Intrauterine growth retardation, Elliptocytosis	OMIM:300194
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Increased serum lactate, Decreased plasma free car...	OMIM:619048
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri...	OMIM:618278
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp...	OMIM:211000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Type 1 Diabetes Mellitus	Ketoacidosis, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos...	OMIM:607364
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin, Thrombocytopenia	OMIM:612952
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease...	ORPHA:95409
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Increased serum lactate, Lacticaciduria, Renal hypoplasia, Aminoacidu...	OMIM:604273
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Dry skin, Lactic acid...	ORPHA:466650
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c...	ORPHA:79159
Isolated Agammaglobulinemia	Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp...	ORPHA:229717
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Lactic acidosis, Hepat...	ORPHA:264580
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss, Peripheral edema, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ...	OMIM:230350
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Hepatic steatosis, Hyp...	ORPHA:247598
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir...	OMIM:300971
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt...	OMIM:226990
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Dehydration, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic ac...	OMIM:251120
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc...	OMIM:259720
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ...	OMIM:603909
Central Diabetes Insipidus	Hyponatremia, Dehydration, Weight loss, Failure to thrive, Nocturia	ORPHA:178029
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor	ORPHA:90033
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive, Short stature, Elevated circulating creatine ki...	OMIM:610377
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra...	ORPHA:79240
Coproporphyria, Hereditary	Splenomegaly, Hypertension, Tachycardia, Hepatomegaly	OMIM:121300
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:611881
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Increas...	OMIM:619386
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive...	ORPHA:160
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Pallor	ORPHA:79283
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom...	OMIM:254900
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:36913
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal mass, Elevated urinary dopamine level, Abnormalit...	OMIM:256700
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia, Facial erythema	ORPHA:284227
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Increased serum lactate, Metabolic acidosis	OMIM:615158
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Petechiae, Macrothrombocytopenia, Absence of alpha granules, Im...	OMIM:187900
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Short stature, Small for gestational age, Meg...	OMIM:277380
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Wiskott-Aldrich Syndrome	Glomerulopathy, Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, T...	ORPHA:906
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpita...	ORPHA:324575
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decrease...	ORPHA:3261
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Beckwith-Wiedemann Syndrome	Ureteral duplication, Redundant skin, Polyhydramnios, Cardiomegaly, Large for gestational age, He...	ORPHA:116
Babesiosis	Hepatomegaly, Hemolytic anemia, Myocardial infarction, Splenomegaly, Congestive heart failure, Le...	ORPHA:108
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Growth delay, Hypocholesterolemia, Increased hepatocellular...	ORPHA:71
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Purpura, Abnormality of neutrophils, Perior...	ORPHA:33226
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent...	ORPHA:45452
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ...	OMIM:203400
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta...	OMIM:222748
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Combined Oxidative Phosphorylation Deficiency 41	Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Cardiomegaly, Lact...	OMIM:618838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R...	OMIM:300842
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease, Skin ulcer	ORPHA:280062
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Dehydration, Lactic acidosis, Leukopenia, Hyp...	ORPHA:99826
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Short stature, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-w...	OMIM:604278
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Hypokal...	OMIM:617913
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Severe short stature, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypopho...	OMIM:156400
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Short stature, Polyuria, Renal salt wasting, Elevated serum bica...	OMIM:612780
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype...	OMIM:614492
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinary 3-methylc...	OMIM:253270
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel...	ORPHA:46059
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia	OMIM:616576
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis	OMIM:200150
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv...	ORPHA:2118
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemolytic ane...	ORPHA:797
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short stature, Polyhydramnios, Nephrocalcinosis, Neutropenia, Intrauterine growth retardation, Fa...	OMIM:618005
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:620010
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ...	OMIM:610600
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Fibrodysplasia Ossificans Progressiva	Anemia	ORPHA:337
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Hyperphosphatemia, Hypocalcemia, Severe intrauterine growth retarda...	OMIM:241410
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Gitelman Syndrome	Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, In...	OMIM:263800
Hsd10 Disease, Neonatal Type	Metabolic acidosis, Lactic acidosis, Abnormality of the liver, Abnormal concentration of acylcarn...	ORPHA:391457
Systemic Lupus Erythematosus	Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia	OMIM:152700
Immune Thrombocytopenia	Petechiae, Thrombocytopenia, Purpura	ORPHA:3002
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo...	OMIM:269920
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia	OMIM:304800
Acute Promyelocytic Leukemia	Pancytopenia, Petechiae, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, ...	ORPHA:520
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Obesity, Polyhydramnios	OMIM:615633
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert...	ORPHA:263297
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Failure to thrive, Abnormal blood ion concentration, Abnormal tubulointerstiti...	ORPHA:411629
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Autosomal Dominant Hypocalcemia	Hypercalciuria, Dry skin, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hype...	ORPHA:428
Abcd Syndrome	Neonatal death, Polycythemia	OMIM:600501
Hydatidiform Mole	Anemia	ORPHA:99927
Kearns-Sayre Syndrome	Sideroblastic anemia, Short stature, Lactic acidosis, Renal tubular acidosis, Renal Fanconi syndrome	OMIM:530000
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Combined Oxidative Phosphorylation Deficiency 5	Redundant neck skin, Edema, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic a...	OMIM:611719
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Dehydration, Increased circulating reni...	ORPHA:556030
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Increased serum lactate, Dehydration, Metabolic acidosis, Intrauterine growth retar...	OMIM:618958
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Eleva...	ORPHA:79284
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hyp...	OMIM:251880
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Increased serum lactate,...	ORPHA:99901
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Hypoalbuminemia, Hypocalcemia, Decreased proportion of CD3-positive T...	ORPHA:90362
Pyruvate Dehydrogenase Phosphatase Deficiency	Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Hyperalaninemia	ORPHA:79246
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Thrombocytopenia	ORPHA:79242
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Failure to thrive, Polyhydramnios	ORPHA:500533
Combined Oxidative Phosphorylation Deficiency 40	Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lactic acidosis, N...	OMIM:618835
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Lactic acidosis, Growth delay, Hypocalcemia, Failure to thrive	ORPHA:163693
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Pericardial effusi...	OMIM:618775
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Polyuria, Dehydration, Proximal tubulopathy, Failure to thrive	OMIM:560000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hy...	OMIM:301040
Diamond-Blackfan Anemia 11	Short stature, Anemia of inadequate production, Unilateral renal agenesis, Bone marrow hypocellul...	OMIM:614900
Fanconi Anemia, Complementation Group I	Short stature, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Bone marrow hypocel...	OMIM:609053
Pseudohypoaldosteronism, Type Iie	Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614496
Combined Oxidative Phosphorylation Deficiency 42	Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Lactic acidosis, N...	OMIM:618839
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Dry skin, Anemia	OMIM:620184
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S...	OMIM:607330
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Decreased circulating renin level	OMIM:613677
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula...	OMIM:613507
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased serum lactate, Lactic acidosis, Abnor...	OMIM:615838
Malignant Hyperthermia, Susceptibility To, 2	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cho...	ORPHA:774
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Dry skin, Lymph...	ORPHA:39041
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Increased body weight, Pallor	ORPHA:276608
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul...	OMIM:137950
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Malignant Hyperthermia, Susceptibility To, 3	Lactic acidosis, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
X-Linked Agammaglobulinemia	Short stature, Abnormality of the tonsils, Abnormality of the lymphatic system, Hepatitis, Skin u...	ORPHA:47
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat...	OMIM:614096
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the kidney, Short stature, Hyperlipi...	ORPHA:369
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
3-Hydroxyisobutyric Aciduria	Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis, Failure to thrive	OMIM:236795
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased...	OMIM:619632
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Nephrocalcinosis, Slender build, Polyhydramnios	OMIM:611087
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss,...	ORPHA:35710
Multiple Mitochondrial Dysfunctions Syndrome 3	Elevated lactate:pyruvate ratio, Polyhydramnios, Lactic acidosis, Metabolic acidosis, Hyperglycin...	OMIM:615330
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria,...	OMIM:619525
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc...	OMIM:615398
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypercalcemia, Short stature, Hypocalcemia	ORPHA:557003
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Severe lactic acidos...	OMIM:612075
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Anemia	ORPHA:75233
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Minimal chang...	ORPHA:567548
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, ...	ORPHA:85138
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Familial Hyperaldosteronism Type Iii	Metabolic alkalosis, Hypokalemia, Left ventricular hypertrophy, Hypercalciuria	ORPHA:251274
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Hypolysinemia, Short stature, Increased serum lactate, Increased...	OMIM:222700
Sanjad-Sakati Syndrome	Hypoplasia of penis, Short stature, Postnatal growth retardation, Hyperphosphatemia, Hypocalcemia...	ORPHA:2323
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating c...	ORPHA:247691
Pseudopseudohypoparathyroidism	Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Intrauterine growth retardation	ORPHA:79445
Cholera	Hyponatremia, Abnormality of renal excretion, Acidosis, Abnormal blood ion concentration, Dehydra...	ORPHA:173
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con...	ORPHA:36234
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Metabolic acidosis, Hyperphosphatemia, Myo...	ORPHA:423
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h...	ORPHA:210136
Diarrhea 4, Malabsorptive, Congenital	Failure to thrive, Hyperchloremic metabolic acidosis, Dehydration	OMIM:610370
Interstitial Lung And Liver Disease	Hepatomegaly, Hyperammonemia, Cholestasis, Lactic acidosis, Aminoaciduria, Hepatic fibrosis, Cirr...	OMIM:615486
Pseudohypoparathyroidism Type 1B	Calcinosis, Short stature, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT...	ORPHA:94089
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Pericardial effusion, Abnormal renal tubular resorption, Hyperca...	ORPHA:73224
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Short stature, Mild postnatal growth retardation, Unilateral renal age...	OMIM:101800
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Decreased cir...	OMIM:618183
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Anuria, Edema, Pancreatitis, Leukocytosis, Hyperkalemia, Oliguria...	ORPHA:544482
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Thrombocytopenia 3	Thrombocytopenia, Petechiae, Decreased mean platelet volume	OMIM:273900
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia	OMIM:614495
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Failure to thrive, Acanth...	ORPHA:14
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly	OMIM:600649
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium	OMIM:611489
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hyperglutamatemia, H...	ORPHA:3008
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Small for gestationa...	ORPHA:26793
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con...	OMIM:620366
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Polyhydramnios, Metabolic alkalosis, Elevated serum bicarbonate concentration, Dehy...	OMIM:214700
Short Stature With Microcephaly And Distinctive Facies	Severe short stature, Small for gestational age, Anisopoikilocytosis, Decreased body weight, Anemia	OMIM:615789
American Trypanosomiasis	Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhyt...	ORPHA:3386
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Weight loss, Lactic acidosis, Macrovesicular hepatic steatosis, Cirrhosis, Hyperalanine...	ORPHA:298
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u...	ORPHA:94080
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Edema, Acidosis, Increased serum lactate, Leukocytosis, ...	ORPHA:391673
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Prolidase Deficiency	Hepatomegaly, Petechiae, Hyperimidodipeptiduria, Splenomegaly, Skin ulcer, Anemia, Increased circ...	OMIM:170100
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Increased serum lactate, Lactic acidosis, Organic aciduria	OMIM:614741
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Muckle-Wells Syndrome	Hepatomegaly, Short stature, Splenomegaly, Nephrotic syndrome, Renal amyloidosis, Delayed puberty...	ORPHA:575
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Chronic kidney disease, Imbal...	ORPHA:330015
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Hypertension, C...	OMIM:614034
Combined Oxidative Phosphorylation Deficiency 9	Elevated lactate:pyruvate ratio, Hepatomegaly, Increased serum lactate, Ketoacidosis, Metabolic a...	OMIM:614582
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Erythema, Intracranial hemorrhage, Cerebral ischem...	ORPHA:449285
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Elevated circulating creatine kinase concentration, Increased urinary sulfite l...	OMIM:272300
Adenohypophysitis	Hyponatremia, Normochromic anemia, Hyposthenuria, Pallor	ORPHA:95512
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Metabolic ketoacidosis, Abnormal circulating fatty-acid concentration,...	ORPHA:263455
Lujo Hemorrhagic Fever	Lymphopenia, Renal insufficiency, Purpura, Elevated circulating C-reactive protein concentration,...	ORPHA:319213
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Increased serum...	OMIM:614702
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, ...	OMIM:226300
Hypotonia-Cystinuria Syndrome	Increased serum lactate, Postnatal growth retardation, Nephrolithiasis, Cystinuria, Lactic acidos...	OMIM:606407
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Lymphadenopathy, Anemia, Weight l...	ORPHA:47612
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Chronic lact...	OMIM:603358
2,4-Dienoyl-Coa Reductase Deficiency	Failure to thrive, Increased serum lactate, Metabolic acidosis, Hyperlysinuria, Decreased plasma ...	OMIM:616034
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Redundant neck skin, Rhizomelia, Weight loss, Severe short-limb dwarfism, Failure t...	ORPHA:1842
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Increased circulat...	OMIM:613179
Paget Disease Of Bone 6	Nephrocalcinosis, Left ventricular hypertrophy	OMIM:616833
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Variegate Porphyria	Tachycardia	OMIM:176200
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ...	OMIM:614576
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Short stature, Hepatomegaly	ORPHA:417
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Thrombocytopenia	OMIM:614727
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Leukocytosis, Weight ...	ORPHA:2070
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal lymphocyte ...	ORPHA:2584
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ...	ORPHA:143
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Petechiae, Reduced natural killer cell activity, Increased ci...	ORPHA:540
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Perica...	OMIM:181000
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Short stature	OMIM:613312
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated circulating branched ch...	ORPHA:2394
Pseudohypoparathyroidism Type 1C	Calcinosis, Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respo...	ORPHA:79444
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97282
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ...	OMIM:115197
Panhypophysitis	Hyponatremia, Normochromic anemia, Hyposthenuria, Pallor	ORPHA:95513
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Potocki-Shaffer Syndrome	Anemia	ORPHA:52022
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi...	ORPHA:77259
Systemic Capillary Leak Syndrome	Renal insufficiency, Pulmonary edema, Leukocytosis, Oliguria, Pedal edema, Weight loss, Pleural e...	ORPHA:188
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Erythema, Endocarditis, Ab...	ORPHA:3099
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Autosomal Agammaglobulinemia	Hepatitis, Dehydration, Agammaglobulinemia, Neutropenia, Failure to thrive	ORPHA:33110
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Increased serum lactate, Renal tubular dysfunction, Lactic acidosis, Cir...	OMIM:616539
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia	ORPHA:199299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Ketoacidosis, Hyperammonemia, ...	OMIM:618120
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias, Short stature	ORPHA:2522
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Mitochondrial Complex I Deficiency, Nuclear Type 15	Increased serum lactate, Metabolic acidosis, Neonatal death, Intrauterine growth retardation, Fai...	OMIM:618237
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Join...	ORPHA:905
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephr...	OMIM:105200
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Proportionate short stature, Recurrent tonsillitis, H...	ORPHA:171876
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Failure to thrive,...	OMIM:618495
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le...	OMIM:615751
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Polysplenia	OMIM:614294
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Elevated lactate:pyruvate ratio, Lacticaciduria, Methylmalonic aciduria, Lactic acidosis, Growth ...	OMIM:245400
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Iron deficiency ane...	OMIM:618885
Familial Mediterranean Fever	Proteinuria, Splenomegaly, Peritonitis, Erythema, Pedal edema, Lymphadenopathy, Nephrocalcinosis,...	ORPHA:342
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Decre...	ORPHA:369837
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Erythema	OMIM:177000
Glucose/Galactose Malabsorption	Metabolic acidosis, Failure to thrive, Hypertonic dehydration, Glycosuria	OMIM:606824
Tularemia	Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical l...	ORPHA:3392
Sheehan Syndrome	Hyponatremia, Obesity, Normochromic anemia, Hyposthenuria, Pallor, Dry skin	ORPHA:91355
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Leigh Syndrome	Increased serum lactate, Ketoacidosis, Lacticaciduria, Methylmalonic aciduria, Generalized aminoa...	ORPHA:506
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr...	OMIM:616733
Pseudo-Torch Syndrome 2	Hepatomegaly, Petechiae, Lactic acidosis, Abnormal renal corticomedullary differentiation, Pleura...	OMIM:617397
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Hemochromatosis, Type 5	Anemia	OMIM:615517
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Lipoyltransferase 1 Deficiency	Increased serum lactate, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Lactic a...	OMIM:616299
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lactic acidosis, Dicarboxylic aciduria, Metabol...	OMIM:615026
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Hydrops fetalis, Skin ulce...	ORPHA:834
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven...	ORPHA:3092
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Pseudohypoparathyroidism Type 1A	Calcinosis, Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respo...	ORPHA:79443
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ...	OMIM:212138
Lamellar Ichthyosis	Renal insufficiency, Short stature, Lack of skin elasticity, Dehydration, Dry skin	ORPHA:313
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting, Dehydration, Delayed puberty, Failure to thrive	OMIM:300200
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertro...	OMIM:605676
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Intrauterine growth retardation, Dehydration	OMIM:601410
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Netherton Syndrome	Short stature, Ectopic kidney, Increased circulating IgE level, Dehydration, Decreased circulatin...	ORPHA:634
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Edema, Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia	OMIM:614652
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Eleva...	OMIM:256040
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non...	ORPHA:227990
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis	OMIM:145980
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Metabolic acidosis, Myoglobinuria, Neonatal death, Dehydration	OMIM:602199
Isolated Glycerol Kinase Deficiency	Metabolic acidosis, Short stature, Elevated circulating creatine kinase concentration	ORPHA:408
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Lactic acidosis, Organic aciduria, Neonatal death	OMIM:617184
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab...	ORPHA:158061
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Hypertension, Tachycardia, Ventricular septal defect	OMIM:613870
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he...	OMIM:304790
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis	OMIM:617105
Mitochondrial Complex I Deficiency, Nuclear Type 30	Metabolic acidosis, Intrauterine growth retardation, Redundant skin, Neonatal death	OMIM:301021
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Dehydration, Nephrocalcinosi...	OMIM:259900
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis, Metabolic acidosis, In...	OMIM:615824
Lactase Deficiency, Congenital	Metabolic acidosis, Dehydration	OMIM:223000
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Metabolic acidos...	OMIM:615605
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decr...	ORPHA:99867
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Splenomegaly, Lymphadenitis, Recurrent tonsi...	OMIM:618935
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia	OMIM:614450
3-Methylglutaconic Aciduria, Type I	Metabolic acidosis, Failure to thrive, 3-Methylglutaconic aciduria, Urinary incontinence	OMIM:250950
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Necrolytic migratory eryth...	ORPHA:97280
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Short stature,...	OMIM:620210
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Bone-...	OMIM:256550
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic ...	OMIM:615630
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis	OMIM:615994
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal...	OMIM:617671
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia	OMIM:618165
Microvillus Inclusion Disease	Nephrocalcinosis, Metabolic acidosis, Abnormal renal physiology, Dehydration	ORPHA:2290
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Erythema, Respiratory acidosis, Nephrotic syndrome, Focal segme...	OMIM:614748
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dicarboxylic aciduria, Microvesicular hepatic steatosis, Thrombocytopenia, Lactic acidosis, Cereb...	OMIM:611126
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura	OMIM:605432
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Chronic lactic acid...	OMIM:312170
Dend Syndrome	Elevated hemoglobin A1c, Dehydration	ORPHA:79134
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, Right ventricula...	ORPHA:335
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym...	ORPHA:83469
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non...	ORPHA:227982
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly, Joint swelling, Micropenis	ORPHA:96123
Hereditary Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin...	ORPHA:30
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Alpha-Methylacetoacetic Aciduria	Episodic ketoacidosis, Dehydration	OMIM:203750
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Severe fai...	ORPHA:423479
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Increased serum lactate, Hyperammonemia, Lactic acidosis, 3-Methylglutaconic aciduria, Hyperalani...	OMIM:614739
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ...	ORPHA:99880
Q Fever	Hepatomegaly, Pericardial effusion, Splenomegaly, Hepatitis, Hepatosplenomegaly, Hematuria, Anemi...	ORPHA:781
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,...	OMIM:615471
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Sialidosis Type 2	Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Nephropathy, Ascites	ORPHA:87876
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia	OMIM:611174
Preeclampsia	Abnormality of the hepatic vasculature, Thrombocytopenia	ORPHA:275555
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Erythema, Hepatomegaly	ORPHA:53715
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lactic acidosis, Growth delay, Hyperuricemia, H...	OMIM:306000
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
16P12.1P12.3 Triplication Syndrome	Tachycardia, Abnormal heart morphology, Abnormal tricuspid valve morphology, Atrial septal defect...	ORPHA:485405
Dermotrichic Syndrome	Anemia	ORPHA:99688
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Cerebrooculofacioskeletal Syndrome 1	Metabolic acidosis, Failure to thrive, Small for gestational age, Dehydration	OMIM:214150
Optic Atrophy 1	Pallor	OMIM:165500
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Rabson-Mendenhall Syndrome	Enlarged ovaries, Short stature, Long penis, Nephrocalcinosis, Diabetic ketoacidosis, Hypokalemia...	ORPHA:769
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Generalized edema, Hypertriglyceridemia, H...	OMIM:267700
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia	OMIM:226670
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia	ORPHA:79351
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Junctional Epidermolysis Bullosa Inversa	Anemia	ORPHA:79405
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Double Outlet Right Ventricle	Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m...	ORPHA:3426
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Hypotension, An...	ORPHA:91547
Hemochromatosis, Type 4	Anemia	OMIM:606069
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut...	OMIM:609981
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Bone marrow hypocellularity, Thro...	ORPHA:3322
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia, Nephrotic syndrom...	OMIM:617303
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Decreased body weight, Short stature, Hepatomegaly	OMIM:607906
Hsd10 Disease, Infantile Type	Cardiomegaly, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Abnor...	ORPHA:391428
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Short stature, Hypophosphatemia	OMIM:193100
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Increased serum lactate, Hyperglycinuria, Lact...	OMIM:605711
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Edema, Pericardial eff...	OMIM:615846
Combined Oxidative Phosphorylation Deficiency 1	Elevated lactate:pyruvate ratio, Hepatomegaly, Increased serum lactate, Cholestasis, Metabolic ac...	OMIM:609060
Mccune-Albright Syndrome	Hyperphosphaturia, Pancytopenia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal phosphate ...	ORPHA:562
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis, Cholelithiasis, Chronic active hepatitis, Asplenia	OMIM:240300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Hydrops fetalis, Abnormality of the ur...	ORPHA:2204
Stevens-Johnson Syndrome	Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnorm...	ORPHA:36426
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Lactic acidosis, Aminoaciduria, Elevated circulating creatine kinase concentration	OMIM:609560
Takayasu Arteritis	Skin ulcer, Anemia, Weight loss	ORPHA:3287
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Metabolic acidosis, Hyperalaninemia	ORPHA:2597
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Senior-Loken Syndrome	Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas...	ORPHA:3156
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Hyperammonemia, Met...	OMIM:615160
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Intermittent lactic acidemia, Lactic acidosis, Metaboli...	ORPHA:348
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Generalized edema, Edema, Reduced...	OMIM:603553
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Dehydration, Hepatosplenomegaly, Cirrhosis, Fail...	OMIM:219700
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hepatic steatosis, Decreased proportion of...	OMIM:619573
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Short stature, Abnormality of neutrophils, Abnormal renal tubule morphology	ORPHA:2720
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Long penis, Hypercalciuria, Nephroc...	ORPHA:508
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Failure to thrive, Po...	ORPHA:223
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Lactic acidosis, 3-Methylglutaconic aciduria	OMIM:614053
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypochr...	ORPHA:97214
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil...	ORPHA:79303
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97283
Ollier Disease	Anemia	ORPHA:296
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Abnormal heart morphology	ORPHA:79264
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Lymphedema, Splenomegaly, Anemia	ORPHA:2930
Anti-Glomerular Basement Membrane Disease	Anemia	ORPHA:375
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Increased serum lactate, Proximal renal tubular acidosis,...	OMIM:266150
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c	OMIM:618858
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Dehydration, Elevated ...	ORPHA:90794
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom...	OMIM:619902
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Increased serum lactate, Abnormal medullary ...	ORPHA:79243
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Arrhythmia	ORPHA:57
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Aceruloplasminemia	Anemia	OMIM:604290
Intellectual Disability-Strabismus Syndrome	Failure to thrive, Short stature, Hypospadias, Polyhydramnios, Intrauterine growth retardation, M...	ORPHA:363528
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Increased serum lactate, Methylma...	OMIM:614105
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o...	ORPHA:169105
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Myeloid leukemia, Pancytopenia, Aplastic anemia, Anemia	OMIM:614742
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Ketoacidosis, Lactic acidosis, Metabolic acidosis	OMIM:246900
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy	OMIM:619183
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Edema	ORPHA:324964
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Cervi...	ORPHA:653
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Boutonneuse Fever	Thrombocytopenia, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Petechiae	ORPHA:83313
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level, F...	OMIM:177735
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Fanconi Anemia, Complementation Group F	Failure to thrive, Short stature, Polyhydramnios, Thrombocytopenia, Renal hypoplasia, Leukopenia,...	OMIM:603467
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool...	OMIM:619868
Acquired Purpura Fulminans	Pyoderma gangrenosum, Thrombocytopenia, Macular purpura	ORPHA:49566
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Failure to thrive, Renal salt wasting, Hyperkalemia, Abnormal urine potassium conce...	ORPHA:168558
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hemolytic anemia, Myocarditis, Splenomeg...	ORPHA:809
Melas	Proteinuria, Short stature, Increased serum lactate, Erythema, Lactic acidosis, Focal segmental g...	ORPHA:550
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Mitochondrial Complex I Deficiency, Nuclear Type 26	Elevated lactate:pyruvate ratio, Increased serum lactate, Metabolic acidosis, Lacticaciduria	OMIM:618247
Malonyl-Coa Decarboxylase Deficiency	Short stature, Methylmalonic aciduria, Lactic acidosis, Metabolic acidosis, Elevated urine suberi...	OMIM:248360
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,...	OMIM:618782
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Renal hypoplasia, Hyperammonemia, Lactic acidosis, 3-Methylglutaconi...	ORPHA:254913
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Failure to thrive, Renal salt wasting, Hyperkalemia, Abnormal urine potassium conce...	ORPHA:289548
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ...	ORPHA:358
Cinca Syndrome	Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly	OMIM:607115
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tr...	ORPHA:1414
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice, Bicarbonaturia, Proximal rena...	OMIM:229600
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder	OMIM:617370
Inflammatory Skin And Bowel Disease, Neonatal, 2	Failure to thrive, Increased circulating IgE level, Polyhydramnios, Dehydration	OMIM:616069
Late-Onset Junctional Epidermolysis Bullosa	Anemia	ORPHA:79406
Follicular Lymphoma	Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno...	ORPHA:545
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Macrovesicular hepati...	OMIM:618234
Isovaleric Acidemia	Metabolic acidosis	ORPHA:33
Alkaptonuria	Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm...	ORPHA:552
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Weight loss	OMIM:188580
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci...	ORPHA:26791
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull...	OMIM:216360
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Lactic acidosis, Increased serum lactate, Left...	OMIM:614458
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney...	ORPHA:847
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Elevated circulating creatine kinase concentration, Increased serum lactate, Chron...	ORPHA:324525
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Dengue Fever	Hepatomegaly, Thrombocytopenia, Leukopenia, Ascites, Petechiae	ORPHA:99828
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating r...	ORPHA:90791
Mitochondrial Complex I Deficiency, Nuclear Type 6	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Severe lactic acidosis, Left ventri...	OMIM:618228
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Acquired Von Willebrand Syndrome	Hematuria, Normocytic anemia, Refractory anemia, Hypochromic anemia	ORPHA:99147
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr...	ORPHA:370348
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Increased serum lactate, Splenomegaly, Postnatal growth retar...	OMIM:613027
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosp...	OMIM:307800
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Dilated cardiomyopathy, Erythema, Left ventricular hypertrophy	OMIM:618321
Degcags Syndrome	Polyhydramnios, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Pallor, Hepatomeg...	OMIM:619488
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre...	OMIM:500009
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Osteogenesis Imperfecta	Rhizomelia, Short stature, Small for gestational age, Hypercalciuria, Nephrolithiasis, Cutis laxa...	ORPHA:666
Pulmonary Blastoma	Weight loss	ORPHA:64741
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Combined Oxidative Phosphorylation Deficiency 30	Elevated lactate:pyruvate ratio, Increased serum lactate, Lactic acidosis, Left ventricular hyper...	OMIM:616974
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Ren...	OMIM:614922
Cog4-Cdg	Cirrhosis, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Decreased body weight, Proteinuria, Abnormality of body weight, Increased circu...	ORPHA:2298
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Combined Oxidative Phosphorylation Deficiency 2	Redundant neck skin, Small for gestational age, Edema, Increased serum lactate, Lactic acidosis, ...	OMIM:610498
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Increased serum lactate, Lactic acidosis, Failure to thrive, Metabolic acidosis	ORPHA:91130
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Erythema, Skin ulcer,...	ORPHA:537
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Hypophosphatasia	Anemia	ORPHA:436
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Increased serum lactate, Lactic acidosis, Metabolic acidosis, Growth delay, Failure...	OMIM:618226
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Cardiomegaly	OMIM:614473
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Stiff-Person Syndrome	Hypertension, Tachycardia, Anemia	OMIM:184850
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ...	ORPHA:66529
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Short stature, Neutropenia, Hyperechogenic pancreas, Thrombocyto...	OMIM:617941
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Angioedema, Erythema, Hepatitis, Lymphadenopathy, Weight loss,...	ORPHA:139402
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abnormality of the pan...	ORPHA:400
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Obesity	OMIM:619737
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Anemia	OMIM:608068
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Oligohydr...	OMIM:619053
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content	OMIM:261750
East Syndrome	Renal salt wasting, Renal magnesium wasting, Metabolic alkalosis, Enuresis, Hypokalemia, Increase...	ORPHA:199343
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Self-Improving Dystrophic Epidermolysis Bullosa	Anemia	ORPHA:79411
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Increased serum la...	OMIM:619055
Bazex Syndrome	Anemia	ORPHA:166113
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal...	OMIM:619534
Erdheim-Chester Disease	Renal insufficiency, Dysuria, Retroperitoneal fibrosis, Weight loss, Joint swelling, Pleural effu...	ORPHA:35687
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Metabolic a...	ORPHA:469
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Lactic acidosis, Ethylmalonic aciduria, Fail...	OMIM:602473
Hereditary Coproporphyria	Tachycardia, Anemia	ORPHA:79273
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Elevated lactate:pyruvate ratio, Increased serum lactate, Postnatal growth retardation, Lactic ac...	OMIM:616111
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Ketoacidosis, Hyperglycinuria, Hyperammonemia, Metabolic acidosi...	OMIM:210210
Tiglic Acidemia	Aminoaciduria, Acidosis	OMIM:275190
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Pallor, Hypophosphatemia...	ORPHA:667
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto...	ORPHA:3260
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Yellow Fever	Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac...	ORPHA:99829
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Increased serum lactate, Hyperalaninemia, Premature skin wrinkling, Failure to thrive	OMIM:617950
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Pantothenate Kinase-Associated Neurodegeneration	Abetalipoproteinemia, Acanthocytosis	ORPHA:157850
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cholestasis, Anemia, Ascites, Thrombocytopenia	OMIM:608104
Alg8-Cdg	Cutis laxa, Anemia, Premature skin wrinkling, Ascites, Thrombocytopenia	ORPHA:79325
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Microsporidiosis	Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Urethritis, Peritonitis, Hepatit...	ORPHA:2552
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Increased circu...	ORPHA:1304
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Mitochondrial Complex I Deficiency, Nuclear Type 13	Metabolic acidosis, Hepatomegaly, Failure to thrive, Acidosis	OMIM:618235
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Retinitis Pigmentosa 51	Pallor, Abnormality of the kidney, Obesity	OMIM:613464
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Dehydration, Growth delay, ...	ORPHA:95427
Mitochondrial Complex I Deficiency, Nuclear Type 34	Metabolic acidosis, Lactic acidosis, Intrauterine growth retardation	OMIM:618776
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Metabolic acidosis	OMIM:245349
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Pleural empyema, Pleural effusion, Anemia	ORPHA:67
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Lactic acidosis, Renal Fanconi syndrom...	ORPHA:53693
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome...	OMIM:223900
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c	OMIM:606176
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Lactic acidosis, Intrauterine growth retardation, Increased serum lactate, Thrombocytopenia	OMIM:617710
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinuria, Nonketotic hyperglycinemia, Metabol...	ORPHA:941
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Jeune Syndrome	Renal insufficiency, Short stature, Abnormality of the liver, Nephronophthisis, Nephropathy	ORPHA:474
Pituitary Apoplexy	Hyponatremia, Normochromic anemia, Pallor	ORPHA:95613
Mitochondrial Complex I Deficiency, Nuclear Type 3	Metabolic acidosis, Hepatomegaly	OMIM:618224
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Failure to thrive, Short stature, Cholangitis, Edema, Rhizome...	OMIM:266920
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa...	ORPHA:980
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Acute Radiation Syndrome	Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Growth delay, Hypocalcemia, Hypophosphatemia, Failure to thrive, Hypoc...	OMIM:264700
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Dehydration	OMIM:251850
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Microvesicular hepatic steatosis, Lacticaciduria, Lactic acidosis, Metabolic acidos...	OMIM:615595
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Cardiomegaly	ORPHA:88643
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Growth delay, Reduced renal corticomed...	OMIM:618541
Mitochondrial Complex I Deficiency, Nuclear Type 29	Elevated lactate:pyruvate ratio, Increased serum lactate, Stage 5 chronic kidney disease, Lactica...	OMIM:618250
Thrombocytopenia 1	Petechiae, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop...	OMIM:313900
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Lactic acidosis, Failure to thrive, Increased serum lactate, Abnormal circulating pyruvate family...	ORPHA:255182
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai...	OMIM:300952
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Incre...	ORPHA:244242
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Dehydration, Weight loss, R...	ORPHA:99885
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated...	OMIM:614921
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Short stature, Lymphadenopathy	OMIM:607271
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Metabolic acidosis, Elevated circulating glutaric aci...	OMIM:231670
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis, Lymphadenopathy...	ORPHA:2686
Trichohepatoenteric Syndrome 1	Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Short stature, Incr...	OMIM:222470
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Short stature, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Truncal ...	OMIM:616541
Combined Oxidative Phosphorylation Deficiency 17	Lactic acidosis, Intrauterine growth retardation, Failure to thrive, Postnatal growth retardation	OMIM:615440
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Increased serum lactate, Mic...	OMIM:613070
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul...	ORPHA:1572
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
D-Glyceric Aciduria	Nonketotic hyperglycinemia, Metabolic acidosis, Growth delay, Aminoaciduria, Micropenis, Failure ...	OMIM:220120
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased serum l...	OMIM:617713
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Eosinophilia, Erythema, Vasculitis in the skin, Neutropenia,...	OMIM:615816
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level	OMIM:620126
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Hyper...	OMIM:619051
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Growth delay, Dry skin	OMIM:617388
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Hydrops fetalis, Hem...	ORPHA:77261
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycin...	OMIM:210200
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundice, Failure to thrive, Thromboc...	OMIM:251290
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Increased serum lactate, Lactic acidosis, Metabolic acidosis, Failure to thrive, Hepatic steatosis	ORPHA:70472
Fetal And Neonatal Alloimmune Thrombocytopenia	Ecchymosis, Purpura, Petechiae, Neonatal alloimmune thrombocytopenia	ORPHA:853
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, Me...	ORPHA:91138
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m...	OMIM:619705
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Psor...	OMIM:614700
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Metabolic acidosis, Increased circulating renin level	OMIM:620125
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia, Abnormal heart ...	ORPHA:505248
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Short stature, Hypercalcemia, Portal hyp...	OMIM:194050
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Severe lactic acidosis	ORPHA:254857
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Small for gestational age, Increased serum lactate, Hyperammonemia, Lactic acidosis,...	OMIM:614052
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk...	ORPHA:292
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb...	OMIM:619355
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Increased serum lactate, Severe lactic acidosis, Polyhydramnios	OMIM:616794
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Increased serum lactate, Metabolic acidosis	OMIM:618225
Nephronophthisis 15	Obesity, Nephronophthisis	OMIM:614845
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Whipple Disease	Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Pedal edema, Anemia	ORPHA:3452
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant skin, Cardiome...	ORPHA:904
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A...	ORPHA:443811
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced...	OMIM:614699
Combined Oxidative Phosphorylation Deficiency 31	Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate	OMIM:617228
Porphyria Variegata	Skin vesicle, Hypertension, Tachycardia, Anemia	ORPHA:79473
Teratoma, Pineal	Abnormal abdomen morphology, Polyuria	OMIM:273120
Aredyld Syndrome	Hepatomegaly, Short stature, Cachexia, Splenomegaly, Abnormality of the ureter, Intrauterine grow...	ORPHA:1133
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Postnatal growth retardation, Generalized aminoaciduria, Hypocalcemia, Hypophospha...	ORPHA:289157
Recon Progeroid Syndrome	Thrombocytopenia, Dry skin, Scaling skin, Anemia	OMIM:620370
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Acidosis, Severe short stature	OMIM:204730
Mevalonic Aciduria	Splenomegaly, Short stature	ORPHA:29
Hsd10 Mitochondrial Disease	Lactic acidosis, Elevated circulating tiglylglycine concentration, Metabolic acidosis	OMIM:300438
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hyperammonemia	ORPHA:664
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Erythema, Prolonged neonatal jaundice, Petechiae, P...	OMIM:225750
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
High Altitude Pulmonary Edema	Leukocytosis, Tachycardia	ORPHA:330012
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glom...	ORPHA:289390
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Hydroxykynureninuria	Tachycardia, Dry skin, Hypotension	ORPHA:79155
Enteric Anendocrinosis	Portal hypertension, Cholestatic liver disease, Hyperchloremic metabolic acidosis, Dehydration	ORPHA:83620
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Ascites, Anemia	OMIM:615758
Combined Oxidative Phosphorylation Deficiency 23	Lactic acidosis, Intrauterine growth retardation, Failure to thrive, Increased serum lactate	OMIM:616198
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis	ORPHA:140976
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Lactic acidosis, Micropenis, Hypospadias, Hydrops fetalis	OMIM:618815
Oxoglutarate Dehydrogenase Deficiency	Increased serum lactate, Metabolic acidosis, Congenital lactic acidosis	OMIM:203740
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Muscular edema	ORPHA:3165
Mitochondrial Myopathy With Lactic Acidosis	Increased serum pyruvate, Lactic acidosis, Elevated serum anion gap, Increased serum lactate	OMIM:251950
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Increased serum lactate, Metabolic acidosis, Pancreatitis, Hyperammonemia	OMIM:620137
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Weismann-Netter Syndrome	Anemia	ORPHA:3344
Ileal Neuroendocrine Tumor	Edema, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Hydronephr...	ORPHA:100078
Hypocalcemic Vitamin D-Resistant Rickets	Nephrolithiasis, Short stature, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Sandifer Syndrome	Anemia	ORPHA:71272
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss	OMIM:613239
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Vitamin D-Dependent Rickets, Type 3	Growth delay, Hypocalcemia, Hypophosphatemia	OMIM:619073
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Failure to thrive in infancy, Cardiomegaly	OMIM:619064
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100083
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat...	ORPHA:71212
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Nephrolithiasis, Thymoma, Dehydration, Hyper...	ORPHA:652
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Stress/infection-induced lactic acidosis, Abnormal circulating carnitine conce...	ORPHA:431361
Legionnaires Disease	Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath...	ORPHA:549
Combined Oxidative Phosphorylation Deficiency 38	Lactic acidosis, Hyperalaninemia, Failure to thrive, Increased serum lactate	OMIM:618378
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Anemia, Iron...	ORPHA:79408
Immunodeficiency 40	T lymphocytopenia, Macrovesicular hepatic steatosis, Thrombocytopenia, Hepatomegaly	OMIM:616433
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Malignant Hyperthermia, Susceptibility To, 4	Acidosis	OMIM:600467
Mitochondrial Complex I Deficiency, Nuclear Type 25	Lactic acidosis, Intrauterine growth retardation, Failure to thrive	OMIM:618246
Pseudoxanthoma Elasticum	Nephrocalcinosis, Excessive wrinkled skin, Lack of skin elasticity, Striae distensae	ORPHA:758
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Failure to thrive, Intermittent thrombocytopeni...	OMIM:612541
Congenital Short Bowel Syndrome	Metabolic acidosis, Failure to thrive, Dehydration	OMIM:615237
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Combined Oxidative Phosphorylation Deficiency 20	Lactic acidosis, Hyperalaninemia, Small for gestational age	OMIM:615917
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia,...	OMIM:613327
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Failure to thrive in infancy	ORPHA:264675
Poems Syndrome	Edema, Pericardial effusion, Lymphadenopathy, Weight loss, Increased circulating antibody level, ...	ORPHA:2905
Sézary Syndrome	Hepatomegaly, Splenomegaly, Dry skin, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:3162
Pfapa Syndrome	Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Ascites, Thrombo...	OMIM:608013
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Elevated lactate:pyruvate ratio, Hepatomegaly, Hypospadias, Splen...	OMIM:252010
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Intra...	OMIM:610678
Fanconi Anemia, Complementation Group R	Anemia	OMIM:617244
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Tuberculosis	Weight loss	ORPHA:3389
Opsismodysplasia	Rhizomelia, Polyhydramnios, Edema, Renal phosphate wasting, Disproportionate short-limb short sta...	OMIM:258480
Ethylmalonic Encephalopathy	Lactic acidosis, Failure to thrive, Ethylmalonic aciduria, Petechiae	ORPHA:51188
Pediatric Systemic Lupus Erythematosus	Raynaud phenomenon, Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphope...	ORPHA:93552
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Graft Versus Host Disease	Tachycardia, Hepatosplenomegaly, Hemophagocytosis, Scaling skin, Failure to thrive	ORPHA:39812
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hyperglycinuria, Metabolic acidosis, Medium chain dicarboxylic aciduria, Hepatic st...	OMIM:201450
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Elevated circul...	OMIM:263700
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Atrial sep...	OMIM:618652
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Myopathic Ehlers-Danlos Syndrome	Pallor, Failure to thrive, Mildly elevated creatine kinase	ORPHA:536516
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Hawkinsinuria	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid...	OMIM:140350
Syndromic Diarrhea	Hepatomegaly, Short stature, Small for gestational age, Increased mean platelet volume, Splenomeg...	ORPHA:84064
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Proteinuria, Eosinophilia, Weight loss, Hematuria, Tubuloint...	ORPHA:183
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Dry skin, Lymphadenopat...	OMIM:617827
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Pedal edema, Weight loss, Nephrotic syndrome, Nep...	ORPHA:330001
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Lactic acidosis, Failure to thrive in infancy, Short stature	OMIM:619065
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia	OMIM:613990
Sulfide:Quinone Oxidoreductase Deficiency	Lactic acidosis, Elevated circulating creatine kinase concentration	OMIM:619221
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Pancytopenia, Short stature, Renal hypoplasia, Renal dy...	ORPHA:85321
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Polyhydramnios, Nephrocalcinosis, Abnormality ...	ORPHA:79500
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Mirage Syndrome	Petechiae, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Combined Oxidative Phosphorylation Deficiency 48	Increased serum lactate, Lactic acidosis, Failure to thrive	OMIM:619012
Hurler-Scheie Syndrome	Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Congenital Factor Ii Deficiency	Anemia	ORPHA:325
Hypophosphatemic Rickets And Hyperparathyroidism	Short stature, Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Elevated circulating C-reactive prote...	ORPHA:50918
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus...	ORPHA:555874
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Increased serum lactate, Metabolic acidosis	OMIM:617290
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Renal artery aneurysm, Pancytopenia, Elevated circulating C-reactive protein concen...	OMIM:615688
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating...	ORPHA:42
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstr...	OMIM:601389
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Kaposi Sarcoma	Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen, Weight loss, Abnormality of t...	ORPHA:33276
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine...	OMIM:616878
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema, Absence of re...	OMIM:120330
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Polyarteritis Nodosa	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Erythema, Skin ...	ORPHA:767
Mitochondrial Complex I Deficiency, Nuclear Type 22	Elevated lactate:pyruvate ratio, Lactic acidosis, Intrauterine growth retardation	OMIM:618243
Familial Cold Urticaria	Erythema, Dehydration	ORPHA:47045
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Erythema, Retinal hemorrhage, Hypertension, Bradycardia	OMIM:614653
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Lactic acidosis, Decreased circulating ferritin concentration	ORPHA:330054
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Splenomegaly, Pa...	ORPHA:1655
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Lymphadenopathy, Hepatosplenomegaly, Joint swelling, Weight lo...	ORPHA:85408
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard...	OMIM:615190
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Increased ser...	OMIM:619418
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Low plasma citrulline, Renal steatosis, Lactic acidosis, Increased hepat...	OMIM:261680
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum lactate, Microvesicular hepatic stea...	OMIM:618528
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh...	ORPHA:99827
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H...	ORPHA:171
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Seve...	OMIM:102700
Immunodeficiency 36 With Lymphoproliferation	Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase...	OMIM:616005
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Pericardial effusion, Splenomegal...	ORPHA:36412
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena...	ORPHA:556037
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP...	OMIM:608233
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopath...	OMIM:235200
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Failure to thrive, Short stature, Renal hypoplasia, Renal cyst, Neutropenia...	OMIM:618460
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react...	ORPHA:900
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop...	OMIM:613989
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity	ORPHA:391
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Proportionate short stature, Weight loss, Vesicoureteral reflux, Intrauteri...	ORPHA:3208
Hepatoerythropoietic Porphyria	Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Abnormal circulating porphyrin concentration,...	ORPHA:95159
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Mitochondrial Complex I Deficiency, Nuclear Type 16	Lactic acidosis, Intrauterine growth retardation, Failure to thrive	OMIM:618238
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia	ORPHA:139411
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ...	OMIM:175200
Myasthenia Gravis	Raynaud phenomenon, Hemolytic anemia, Pure red cell aplasia	ORPHA:589
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Short stature, Elevated hemoglobin A1c	OMIM:616113
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Coenzyme Q10 Deficiency, Primary, 5	Increased serum lactate, Lactic acidosis, Left ventricular hypertrophy, Hyperalaninemia, Intraute...	OMIM:614654
Hypokalemic Tubulopathy And Deafness	Acidosis, Increased circulating renin level, Renal salt wasting	OMIM:619406
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur...	ORPHA:1933
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Livedoid Vasculopathy	Pancytopenia, Leukocytosis, Pedal edema, Hyperhomocystinemia, Skin ulcer, Macular purpura, Ecchym...	ORPHA:542643
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Short stature, Increased serum lactate, Lactic acidosis, Hyperglycinemia, Hyperalaninemia	OMIM:619059
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Netherton Syndrome	Hypernatremic dehydration, Failure to thrive, Angioedema, Increased circulating IgE level, Hypere...	OMIM:256500
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Mitochondrial Complex I Deficiency, Nuclear Type 18	Lactic acidosis, Hydroureter, Hydronephrosis	OMIM:618240
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Increased serum pyruvate, Hyperalaninemia, Lactic acidosis, Increased serum lactate	OMIM:617668
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Erythema, He...	ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 7	Lactic acidosis, Failure to thrive	OMIM:618229
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo...	ORPHA:84
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Cardiac-Urogenital Syndrome	Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Lactic acidosis, Increased serum lactate, Elevated circulating creatine kinase concentration, Hyp...	OMIM:618416
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Small for gestational age, Polyuria, Facial wrinkling, Dry skin, Recurrent ...	OMIM:606721
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:90035
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Failure to thrive in infancy, Edema, Polyhydramnios, Pericardial effusion, Car...	ORPHA:51608
Zttk Syndrome	Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growth ...	OMIM:617140
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Redundant neck skin, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenome...	OMIM:235255
Combined Oxidative Phosphorylation Deficiency 37	Increased serum lactate, Lactic acidosis, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesi...	OMIM:618329
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Robinow Syndrome, Autosomal Recessive 1	Short stature, Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication	OMIM:268310
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Sp...	ORPHA:465508
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated lactate:pyruvate ratio, Cholangitis, Increased serum lactate, Microves...	OMIM:124000
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevated circulating cr...	OMIM:614376
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting	OMIM:614736
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Pyomyositis	Leukocytosis, Renal insufficiency, Weight loss	ORPHA:764
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr...	ORPHA:2388
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Myotonic Dystrophy 2	Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction	OMIM:602668
Combined Oxidative Phosphorylation Deficiency 32	Lactic acidosis, Increased serum lactate, Horseshoe kidney	OMIM:617664
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el...	OMIM:261740
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh...	OMIM:601847
Fanconi Anemia, Complementation Group P	Pancytopenia, Anemia	OMIM:613951
Hyperchlorhidrosis, Isolated	Hyponatremia, Hypernatremic dehydration, Failure to thrive, Hyperkalemia	OMIM:143860
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Kenny-Caffey Syndrome, Type 1	Anemia	OMIM:244460
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Growth delay, Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Coenzyme Q10 Deficiency, Primary, 4	Elevated lactate:pyruvate ratio, Lactic acidosis, Increased serum lactate	OMIM:612016
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu...	OMIM:605309
Glycerol Kinase Deficiency	Increased urinary glycerol, Hypertriglyceridemia, Short stature, Hyperglycerolemia, Chronic pancr...	OMIM:307030
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Increased circulating IgE level, Increased circulating IgG level, Defective T cell ...	OMIM:618213
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ...	OMIM:300855
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy	ORPHA:52417
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopath...	ORPHA:379
Biotinidase Deficiency	Hepatomegaly, Metabolic ketoacidosis, Splenomegaly, Hyperammonemia, Organic aciduria	OMIM:253260
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat...	OMIM:300280
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph...	OMIM:301074
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Disproportionate short-trunk short stature, Iron deficiency anemia, Short stature, Increased urin...	ORPHA:93315
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Increased serum lactate, Failure to thrive, Metabolic acidosis	ORPHA:88639
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet c...	ORPHA:97289
Congenital Pulmonary Lymphangiectasia	Growth delay, Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Erythrokeratodermia Variabilis	Erythema, Dry skin, Short stature, Weight loss	ORPHA:317
3-Hydroxyisobutyric Aciduria	Lactic acidosis, Intrauterine growth retardation	ORPHA:939
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Xfe Progeroid Syndrome	Renal insufficiency, Severe short stature, Proteinuria, Failure to thrive, Cachexia, Dry skin, Hy...	OMIM:610965
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
X-Linked Hypophosphatemia	Disproportionate short stature, Renal phosphate wasting, Growth delay, Hypocalciuria, Hypophospha...	ORPHA:89936
Pediatric-Onset Graves Disease	Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Throm...	ORPHA:525731
12Q14 Microdeletion Syndrome	Short stature, Ectopic kidney, Abnormality of the spleen, Renal hypoplasia, Horseshoe kidney, Int...	ORPHA:94063
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Matthew-Wood Syndrome	Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal spleen morpholog...	ORPHA:2470
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Cachexia, Proteinuria, Polyhydramnios	ORPHA:2774
Gaucher Disease	Hepatomegaly, Pancytopenia, Proteinuria, Short stature, Elevated circulating C-reactive protein c...	ORPHA:355
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Delayed puberty, Slender bui...	ORPHA:1328
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy	OMIM:252920
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Left ventricular hypertrophy, El...	OMIM:242840
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Cutis Laxa, Autosomal Recessive, Type Iic	Short stature, Cutis laxa, Nephrocalcinosis, Decreased body weight, Micropenis, Oligohydramnios	OMIM:617402
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Amish Lethal Microcephaly	Metabolic acidosis, Hepatomegaly, Organic aciduria	ORPHA:99742
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Decreased platelet glycoprotein Ib-IX-V, Giant ...	ORPHA:274
Caroli Syndrome	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:480520
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia...	ORPHA:167
Wars2-Related Combined Oxidative Phosphorylation Defect	Lactic acidosis, Intrauterine growth retardation, Increased serum lactate, Thrombocytopenia	ORPHA:572798
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria,...	OMIM:230000
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1	Elevated circulating hexacosanoic acid concentration, Increased serum lactate, Lactic acidosis, H...	OMIM:614388
Osteopetrosis, Autosomal Recessive 7	Growth delay, Splenomegaly, Anemia, Hepatomegaly	OMIM:612301
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Dravet Syndrome	Pallor	ORPHA:33069
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Acute leukemia, Pollakisu...	ORPHA:647
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Short stature, Small for gestational age, Dilatation of the renal pe...	ORPHA:2044
Trisomy 8P	Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypoplasia of the gallbladder, Mic...	ORPHA:264450
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Lactic acidosis, Increased serum lactate	ORPHA:139485
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy, Hep...	ORPHA:333
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly	OMIM:266500
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Gm1-Gangliosidosis, Type I	Hepatomegaly, Severe short stature, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Abnorm...	OMIM:230500
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic...	OMIM:130650
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Mitochondrial Complex I Deficiency, Nuclear Type 37	Hypospadias, Increased serum lactate, Lactic acidosis, Growth delay, Failure to thrive	OMIM:619272
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Weight loss, ...	ORPHA:361
Vitamin D-Dependent Rickets, Type 2A	Growth delay, Failure to thrive, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Fructose-1,6-Bisphosphatase Deficiency	Metabolic acidosis, Hepatomegaly, Increased urinary glycerol	OMIM:229700
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c...	ORPHA:1830
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Mitochondrial Complex I Deficiency, Nuclear Type 14	Increased serum lactate, Lactic acidosis	OMIM:618236
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Dehydration, Weight loss	ORPHA:92050
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Rat-Bite Fever	Abdominal aseptic abscess, Lymphadenitis, Weight loss, Scaling skin, Pancreatitis, Anemia	ORPHA:31205
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Lactic acidosis, Proximal tubulopathy, Intrauterine growt...	ORPHA:2609
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia, Failure to t...	ORPHA:2131
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Hyperammonemia	OMIM:614111
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund...	OMIM:211600
Mitochondrial Complex I Deficiency, Nuclear Type 17	Lactic acidosis, Increased serum lactate	OMIM:618239
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes...	ORPHA:79102
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Edema, Splenomegaly, Erythema, Weight loss	ORPHA:33577
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Nephroblastoma	Weight loss, Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma	ORPHA:654
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Lacticaciduria, Lactic acidosis, Neonatal death, Left ventricular hypert...	OMIM:619167
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Short stature, Abnormality of neutrophils, Thrombocytopen...	ORPHA:1775
Fanconi Anemia, Complementation Group W	Growth delay, Intrauterine growth retardation, Renal hypoplasia, Polysplenia	OMIM:617784
Hennekam Syndrome	Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Splenomegaly, Pericardial effusion...	ORPHA:2136
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Short stature, Renal p...	ORPHA:289176
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentrati...	OMIM:608779
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly	ORPHA:100075
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Impaired T cell function, Perianal erythema, Splenomegaly, Dry skin,...	OMIM:201100
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Anemia	ORPHA:935
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Hepatomegaly, Abnormality of the liver, Severe lactic acidosis, Decreased circulating carnitine c...	ORPHA:254864
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Mitochondrial Complex I Deficiency, Nuclear Type 8	Increased serum lactate, Lactic acidosis, Pancreatitis	OMIM:618230
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Pneumocystosis	Pleural effusion, Weight loss, Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis	OMIM:602152
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis...	ORPHA:2137
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Spleno...	ORPHA:30391
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lactic acidosis, Hepatic steatosis	OMIM:615119
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Dermal translucency	OMIM:612199
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Methanol Poisoning	Metabolic acidosis, Hyperlipidemia	ORPHA:31825
Pyruvate Dehydrogenase Phosphatase Deficiency	Lactic acidosis	OMIM:608782
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Growth delay, Bone marrow hypocellularity, Intrauter...	OMIM:614083
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Redundant neck skin, Thrombocytopenia, Hepatomegaly	OMIM:301056
Blau Syndrome	Clear cell renal cell carcinoma, Splenomegaly, Erythema, Xerostomia, Stage 5 chronic kidney disea...	ORPHA:90340
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Weight loss, Growth delay, Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Hypospadias, Increased serum lactate, Methylmalonic aciduri...	ORPHA:17
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Hurler-Scheie Syndrome	Hepatomegaly, Short stature, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate e...	OMIM:607015
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Dry skin, Anemia	ORPHA:261323
Mucopolysaccharidosis Type 6	Splenomegaly, Failure to thrive, Mucopolysacchariduria, Disproportionate short-trunk short stature	ORPHA:583
Lymphatic Malformation 7	Anemia	OMIM:617300
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Pelvic mass, Reduced C-peptide level, Weight loss, Neoplasm of th...	ORPHA:2126
Incontinentia Pigmenti	Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor	OMIM:308300
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Raine Syndrome	Hydroureter, Short stature, Hypophosphatemia, Neonatal death, Hydronephrosis	OMIM:259775
Tricarboxylic Acid Cycle, Defect Of	Persistent lactic acidosis	OMIM:275370
Pulmonary Arteriovenous Malformation	Iron deficiency anemia	ORPHA:2038
Odontochondrodysplasia 1	Mesomelic short stature, Short stature, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Juvenile Polyposis Syndrome	Anemia	OMIM:174900
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Weight loss, Hypokalemia, Abnormality of...	ORPHA:1501
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine...	ORPHA:480864
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Congenital Disorder Of Glycosylation, Type Iig	Left ventricular hypertrophy, Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Juvenile Polyposis Of Infancy	Refractory anemia, Short stature, Cachexia, Hypoalbuminemia, Anemia	ORPHA:79076
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Microcephaly, Amish Type	Lactic acidosis, Hepatomegaly, Failure to thrive	OMIM:607196
Chronic Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529799
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Elevated lactate:pyruvate ratio, Stress/infection-induced lactic acidosis, Increased serum lactat...	OMIM:252011
Succinic Acidemia	Lactic acidosis	OMIM:600335
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia, Abnormality of the kidney	ORPHA:261584
Microscopic Polyangiitis	Glomerulopathy, Renal insufficiency, Peritonitis, Erythema, Oliguria, Skin ulcer, Hematuria, Panc...	ORPHA:727
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Lactic acidosis	ORPHA:1369
Mitochondrial Myopathy, Lethal, Infantile	Lactic acidosis	OMIM:551000
Phenformin 4-Hydroxylation	Lactic acidosis	OMIM:261590
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Severe short stature, Short stature, Heparan sulfate excretion in urine, Splenomega...	OMIM:309900
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Cardiogenic Shock	Increased serum lactate, Elevated circulating creatinine concentration, Oliguria, Metabolic acidosis	ORPHA:97292
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia	ORPHA:974
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa...	ORPHA:98855
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Lactic acidosis, Left ventricular hypertrophy	OMIM:540000
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Short stature, Proximal renal tubular acidosis	OMIM:179830
Avian Influenza	Leukopenia, Lymphopenia, Hepatitis, Thrombocytopenia	ORPHA:454836
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Leigh Syndrome	Lactic acidosis, Failure to thrive, Increased serum lactate, Hepatocellular necrosis	OMIM:256000
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa...	ORPHA:98853
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Short stature, Ectopic kidney, Abnormal renal morphology, Vesicouretera...	OMIM:122470
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He...	ORPHA:308552
Renpenning Syndrome	Growth delay, Severe short stature, Hypospadias, Cachexia	ORPHA:3242
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Patent urac...	OMIM:618252
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ...	OMIM:239850
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Pyridoxine-Dependent Epilepsy	Lactic acidosis	ORPHA:3006
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Elevated lactate:pyruvate ratio, Hepatomegaly, Increased serum lactate,...	OMIM:604377
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
3-Methylglutaconic Aciduria, Type Viii	Increased serum lactate, Jaundice, Growth delay, 3-Methylglutaric aciduria, 3-Methylglutaconic ac...	OMIM:617248
Yao Syndrome	Xerostomia, Nephrolithiasis, Weight loss	OMIM:617321
Harlequin Ichthyosis	Dehydration	ORPHA:457
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi...	ORPHA:3427
Acute Liver Failure	Acidosis, Jaundice, Cerebral edema, Hyperammonemia, Alkalosis, Hepatocellular necrosis, Hepatic n...	ORPHA:90062
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Thrombocytopenia	ORPHA:79330
Diarrhea 12, With Microvillus Atrophy	Metabolic acidosis	OMIM:619445
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Multiple Sulfatase Deficiency	Hepatomegaly, Short stature, Periorbital edema, Splenomegaly, Mucopolysacchariduria	OMIM:272200
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos...	OMIM:260920
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti...	ORPHA:131
Gm1 Gangliosidosis	Short stature, Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Weight loss, Failure to thrive	ORPHA:354
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Facial edema,...	ORPHA:79078
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp...	OMIM:201475
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Infantile Liver Failure Syndrome 3	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepa...	OMIM:618641
Pleural Mesothelioma	Hepatomegaly, Pleural effusion, Weight loss, Lymphadenopathy	ORPHA:50251
Multiple Sulfatase Deficiency	Splenomegaly, Mucopolysacchariduria, Short stature, Hepatomegaly	ORPHA:585
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte...	ORPHA:91347
Mitochondrial Complex I Deficiency, Nuclear Type 19	Lactic acidosis	OMIM:618241
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Failure to thrive, Short stature, Hepatocellular carcinoma, Microvesicular hepatic ...	OMIM:256810
Hypophosphatemic Bone Disease	Short stature, Hypophosphatemia	OMIM:146350
Hermansky-Pudlak Syndrome	Renal insufficiency, Weight loss, Neutropenia	ORPHA:79430
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Metabolic acidosis, Lactic acidosis	OMIM:616501
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Hyperthyroidism, Nonautoimmune	Tachycardia, Small for gestational age	OMIM:609152
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card...	OMIM:232300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly	OMIM:613320
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Gastrointestinal Stromal Tumor	Anemia	ORPHA:44890
Myopathy, Mitochondrial, And Ataxia	Growth delay, Pallor, Short stature, Elevated circulating creatine kinase concentration	OMIM:617675
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:85414
Congenital Disorder Of Glycosylation, Type Im	Failure to thrive, Dilated cardiomyopathy, Bradycardia, Dry skin	OMIM:610768
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Mucopolysaccharidosis Type 7	Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Mucopolysacchariduria, Ascites	ORPHA:584
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly	OMIM:619005
Mitochondrial Dna Depletion Syndrome 17	Acidosis, Low plasma citrulline, Hyperammonemia	OMIM:618567
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Overweight, Metabolic acidosis, Renal tubular acidosis, Failure to thrive	OMIM:619575
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, ...	ORPHA:2072
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein...	OMIM:612852
Polymyositis	Hepatomegaly, Weight loss, Elevated circulating creatine kinase concentration, Abnormal renal tub...	ORPHA:732
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Childhood Absence Epilepsy	Pallor, Urinary incontinence	ORPHA:64280
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Xerostomia, Oliguria, Skin ulcer	ORPHA:220393
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl...	ORPHA:98863
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Giant Cell Arteritis	Renal insufficiency, Mediastinal lymphadenopathy, Skin ulcer, Weight loss, Hematuria	ORPHA:397
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Short stature, Impaired T cell function, Unilateral renal a...	OMIM:188400
Beta-Ureidopropionase Deficiency	Increased serum lactate, Elevated circulating N-carbamyl-beta-alanine concentration, Bladder exst...	OMIM:613161
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Short stature, Horseshoe kidney, Growth delay, Hypophosphatemic rickets	OMIM:163200
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Plague	Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Skin ulcer, Hypotension, Arrh...	ORPHA:707
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Lack of skin elasticity, Weight loss, Abnormal circulating lipid concentration, Hyperli...	ORPHA:1979
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Lassa Fever	Facial edema, Increased circulating IgM level, Jaundice, Oliguria	ORPHA:99824
Esophageal Atresia	Renal agenesis, Small for gestational age, Polyhydramnios, Failure to thrive in infancy, Growth d...	ORPHA:1199
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lactic acidosis, Hepatomegaly, Hyperglycinemia	OMIM:614299
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Isaacs Syndrome	Weight loss	ORPHA:84142
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Muscular ventri...	OMIM:619503
Microphthalmia, Syndromic 9	Renal malrotation, Severe short stature, Short stature, Renal hypoplasia, Horseshoe kidney, Multi...	OMIM:601186
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Scheie Syndrome	Splenomegaly, Mucopolysacchariduria, Hepatomegaly	ORPHA:93474
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ne...	OMIM:269700
Cranioectodermal Dysplasia 3	Rhizomelia, Short stature, Stage 5 chronic kidney disease, Cutis laxa, Cirrhosis, Nephronophthisi...	OMIM:614099
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Metabolic alkalosis, Hypokalemia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231625
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Increased serum lactate, Obesity, Severe lact...	OMIM:615418
Floating-Harbor Syndrome	Hypospadias, Short stature, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethra...	OMIM:136140
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Rift Valley Fever	Thrombocytopenia, Jaundice, Hepatitis, Anemia	ORPHA:319251
Pachydermoperiostosis	Hepatomegaly, Edema, Splenomegaly, Joint swelling, Anemia	ORPHA:2796
Chronic Graft Versus Host Disease	Pancytopenia, Phimosis, Urinary bladder inflammation, Erythema, Xerostomia, Skin ulcer, Weight lo...	ORPHA:99921
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Primary Unilateral Adrenal Hyperplasia	Metabolic alkalosis, Hypokalemia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231580
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Riddle Syndrome	Generalized lymphadenopathy, Short stature, Elevated circulating alpha-fetoprotein concentration,...	ORPHA:420741
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Huntington Disease-Like 2	Weight loss	OMIM:606438
Adult Acute Respiratory Distress Syndrome	Metabolic acidosis, Diabetic ketoacidosis, Pancreatitis, Pulmonary edema	ORPHA:70578
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Short stature, Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticoster...	ORPHA:90795
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Lactic acidosis, Short stature	ORPHA:1170
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Oligohydramnios	OMIM:267430
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Thrombocytopenia	OMIM:301072
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Increased serum lactate, Chol...	OMIM:614924
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph...	ORPHA:1018
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Episodic metabolic acidosis, Failure to thrive, Ethylmalonic aciduria	OMIM:201470
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Weight loss, Lymphadenopathy	ORPHA:26790
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss	ORPHA:729
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, H...	ORPHA:60025
Tay-Sachs Disease	Pallor	OMIM:272800
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated lactate:pyruvate ratio, Hepatomegaly, Elevated circulating creatine kinase...	OMIM:610505
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Leukocytosis, Renal hypoplasia, Abdominal obesity, Azotemia, Intrauterine growth r...	OMIM:619321
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Short stature, Cholangitis, Polyhydramnios, Rhizomelia, Spleno...	OMIM:613610
19Q13.11 Microdeletion Syndrome	Hypospadias, Cachexia, Dry skin, Growth delay, Intrauterine growth retardation, Failure to thrive	ORPHA:217346
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr...	ORPHA:48435
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Mcdonough Syndrome	Short stature, Cachexia	ORPHA:2471
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Silver-Russell Syndrome	Hypospadias, Short stature, Cachexia, Failure to thrive in infancy, Postnatal growth retardation,...	ORPHA:813
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart...	ORPHA:280365
Behçet Disease	Glomerulopathy, Renal insufficiency, Splenomegaly, Lymphadenopathy, Weight loss, Pleural effusion...	ORPHA:117
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Dubowitz Syndrome	Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Dry skin, Thrombocytopenia	ORPHA:235
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Recurrent urinary tract infections, Short stature, Glomerulonephritis, He...	ORPHA:2968
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the t...	ORPHA:99889
Pelizaeus-Merzbacher Disease	Abnormality of the urinary system, Short stature, Failure to thrive in infancy, Cachexia	ORPHA:702
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction...	ORPHA:268
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity	ORPHA:1772
Focal Myositis	Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Small for gestational age, Increased serum lactate, Microvesicular hepati...	OMIM:220111
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Intrauterine growth retardation, Failure to thrive in infancy, Cachexia	OMIM:616801
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Postnatal growth retardation, Dehydration, Intrauterine growth retard...	ORPHA:96191
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney	ORPHA:79128
Pyruvate Dehydrogenase E1-Beta Deficiency	Lactic acidosis, Intrauterine growth retardation, Decreased body weight	ORPHA:255138
Granulomatosis With Polyangiitis	Granulomatosis, Skin ulcer, Weight loss	OMIM:608710
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Fatal Familial Insomnia	Urinary retention, Weight loss	OMIM:600072
Hyperglycinemia, Lactic Acidosis, And Seizures	Lactic acidosis, Increased serum lactate, Growth delay, Cerebral edema	OMIM:614462
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat...	ORPHA:254892
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Abnormal circulating creatin...	ORPHA:440437
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, Ci...	ORPHA:77293
Pyruvate Dehydrogenase E2 Deficiency	Lactic acidosis	OMIM:245348
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Obesity, Weight loss, Growth delay, Intrauterine growth retardation	ORPHA:251071
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Spl...	OMIM:616843
Fibrous Dysplasia Of Bone	Short stature, Hypercalcemia, Hypophosphatemia	ORPHA:249
Acute Intermittent Porphyria	Hypertension, Tachycardia	ORPHA:79276
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly	OMIM:268800
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Anemia, Absent gallbladder	ORPHA:163979
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci...	ORPHA:65682
Christianson Syndrome	Cachexia	ORPHA:85278
Mucolipidosis Type Ii	Short stature, Postnatal growth retardation, Splenomegaly, Hepatosplenomegaly, Weight loss, Left ...	ORPHA:576
Deeah Syndrome	Decreased hemoglobin concentration, Exocrine pancreatic insufficiency, Thrombocytopenia, Hepatome...	OMIM:619004
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,...	ORPHA:90003
Hirschsprung Disease	Failure to thrive in infancy, Short stature, Weight loss	ORPHA:388
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Alg12-Cdg	B lymphocytopenia, Redundant skin, Thrombocytopenia	ORPHA:79324
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Cranioectodermal Dysplasia 1	Hepatomegaly, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chro...	OMIM:218330
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Lactic acidosis, Elevated...	OMIM:603041
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Weight loss, Lymphadenopathy	ORPHA:411703
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepat...	OMIM:602782
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Hepatocellular carcinoma, Multiple small medu...	OMIM:118450
Fucosidosis	Hepatomegaly, Failure to thrive, Cardiomegaly	ORPHA:349
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Ascites, Thrombocytopenia	ORPHA:464321
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Polyhydramnios	OMIM:618186
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, Cardiomegaly	OMIM:619259
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Failure to thrive, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Lethal Acantholytic Erosive Disorder	Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy	ORPHA:158687
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Growth delay, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re...	ORPHA:95430
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Dermatomyositis	Abnormal eosinophil morphology, Edema, Periorbital edema, Erythema, Skin ulcer, Weight loss, Dry ...	ORPHA:221
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy	ORPHA:2221
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Cirrhosis,...	OMIM:305000
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia	OMIM:175050
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Enlarged kidney, Arrhythmia, Antenatal intrac...	OMIM:608836
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Flynn-Aird Syndrome	Skin ulcer, Cachexia	ORPHA:2047
Malignant Peritoneal Mesothelioma	Peritonitis, Ascites, Pedal edema, Weight loss	ORPHA:168811
Graves Disease, Susceptibility To, 1	Abnormal abdomen morphology, Weight loss	OMIM:275000
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Mitochondrial Phosphate Carrier Deficiency	Metabolic acidosis, Lactic acidosis	OMIM:610773
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia	ORPHA:371364
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Short stature, Redundant skin, Cachexia	ORPHA:52503
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly	OMIM:105210
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Sple...	ORPHA:567983
Rheumatoid Arthritis	Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Kabuki Syndrome 1	Atrial septal defect, Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia	OMIM:147920
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia	ORPHA:300605
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss	ORPHA:312
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lactic acidosis, Neonatal death	OMIM:618232
Scalp-Ear-Nipple Syndrome	Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachycardia, Dry skin	OMIM:181270
Juvenile Dermatomyositis	Calcinosis, Palpebral edema, Elevated circulating creatine kinase concentration, Elevated circula...	ORPHA:93672
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Malignant Atrophic Papulosis	Pleural effusion, Peritonitis, Abnormality of the lower urinary tract, Weight loss	ORPHA:679
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hypercalcemia, Jaundice, Erythema, Extrahepatic cholestasis, We...	ORPHA:913
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenici...	OMIM:619351
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume	ORPHA:487796
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Hypocalciuria, Hypophosphaturia	ORPHA:73223
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Jacobsen Syndrome	Annular pancreas, Thrombocytopenia	OMIM:147791
Tetrasomy 12P	Short stature, Cachexia	ORPHA:884
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Lactic acidosis, Increased serum lactate, Cerebral edema	OMIM:617186
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Short stature, Obesity, Cachexia	ORPHA:85293
Perry Syndrome	Weight loss	ORPHA:178509
Schwartz-Jampel Syndrome	Short stature, Elevated circulating creatine kinase concentration, Polyhydramnios, Cachexia, Abno...	ORPHA:800
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Nephrolithiasis, Cirrhosis,...	OMIM:608594
Trisomy 18	Short stature, Cachexia, Abnormality of the upper urinary tract, Growth delay, Intrauterine growt...	ORPHA:3380
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Short Syndrome	Excessive wrinkled skin, Severe short stature, Weight loss	ORPHA:3163
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia...	OMIM:309801
Acrodermatitis Enteropathica	Failure to thrive, Short stature, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:37
Anaplastic Thyroid Carcinoma	Weight loss, Lymphadenopathy	ORPHA:142
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Cutis laxa, Atrial septal defect, Lef...	OMIM:245600
Bullous Pemphigoid	Erythema, Weight loss	ORPHA:703
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve...	ORPHA:365
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, Lymphadenopathy,...	ORPHA:3385
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Proximal Spinal Muscular Atrophy	Metabolic acidosis	ORPHA:70
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Heart m...	OMIM:252500
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased serum lactate, Mildly elevated creatine kinase, Weight loss	OMIM:607459
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hepatomegaly, Hypospad...	OMIM:243800
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Cerebral hemorrhage, Retinal hemorrhage, Ischemic stroke, Corneal neovasculariz...	OMIM:175780
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
22Q11.2 Deletion Syndrome	Abnormality of the tonsils, Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:567
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Dry skin, Hepatomegaly	OMIM:612132
Jacobsen Syndrome	Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97278
Aneurysm Of Sinus Of Valsalva	Oliguria, Edema	ORPHA:1054
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Bohring-Opitz Syndrome	Severe failure to thrive, Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly	ORPHA:97297
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole...	ORPHA:97261
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti...	ORPHA:581
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Horseshoe kidney	OMIM:617088
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Cap Polyposis	Weight loss	ORPHA:160148
Medullary Thyroid Carcinoma	Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome...	OMIM:300967
Perry Syndrome	Weight loss	OMIM:168605
Legius Syndrome	Paroxysmal atrial tachycardia, Acute monocytic leukemia, Pulmonic stenosis, Mitral valve prolapse	ORPHA:137605
Marshall-Smith Syndrome	Ventricular septal defect, Premature ventricular contraction, Hypertension, Decreased body weight...	OMIM:602535
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:97287
Telangiectasia, Hereditary Hemorrhagic, Type 2	Polycythemia, Anemia	OMIM:600376
Proteus Syndrome	Thymus hyperplasia, Cachexia, Lymphedema, Neoplasm of the thymus, Splenomegaly, Enlarged polycyst...	ORPHA:744
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100080
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Oromandibular Dystonia	Weight loss	ORPHA:93958
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100082
Reactive Arthritis	Joint swelling, Recurrent urinary tract infections, Weight loss	ORPHA:29207
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Weight loss	ORPHA:747
Infantile Krabbe Disease	Failure to thrive, Cachexia	ORPHA:206436
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Rett Syndrome	Short stature, Cachexia	OMIM:312750
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Weight loss, Hepatocellular carcinoma	ORPHA:144
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Dry skin	OMIM:163950
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Elevated circulating creatine kinase concentration	OMIM:253280
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom...	OMIM:613254
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Bannayan-Riley-Ruvalcaba Syndrome	Short stature, Cachexia, Lymphedema	ORPHA:109
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hyperten...	ORPHA:3472
Pemphigus Vulgaris	Weight loss	ORPHA:704
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Telangiectasia, Hereditary Hemorrhagic, Type 1	Polycythemia, Anemia	OMIM:187300
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Short stature, Cachexia	ORPHA:220295
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S...	OMIM:182250
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Polyhydramnios, Weight loss	ORPHA:2020
Seckel Syndrome	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:808
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Nocardiosis	Liver abscess, Lymphadenitis, Peritonitis, Weight loss, Pleural effusion	ORPHA:31204
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Hutchinson-Gilford Progeria Syndrome	Delayed menarche, Lack of skin elasticity, Weight loss, Severe failure to thrive, Premature skin ...	ORPHA:740
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Cachexia	ORPHA:1969
Marfan Syndrome	Striae distensae, Slender build, Cachexia	ORPHA:558
Stickler Syndrome	Slender build, Short stature, Cachexia	ORPHA:828
Norrie Disease	Failure to thrive, Cachexia, Delayed puberty	ORPHA:649

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 Slc4a1

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 Slc4a1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.	Nature communications (October 2017)	Slc4a10^{tm1b(KOMP)Wtsi}	PMC5638796

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Slc4a1^{tm103(pL1L2_frt15_BetactinBSD_frt14_neo_Rox)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc4a1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Slc4a1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc4a1^{tm103(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc4a1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Slc4a1^{tm103(L1L2_gt1_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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