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Gene: Ank1 MGI:88024

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ankyrin 1, erythroid

Synonyms:

pale, Ank-1

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 Ank1 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 Ank1 (3 diseases)
Human diseases predicted to be associated with Ank1 (2435 diseases)

The table below shows human diseases associated to Ank1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Splenomegaly, Cryptorchidism, Spherocytosis, Mitral valve prolap...	ORPHA:251066

The table below shows human diseases predicted to be associated to Ank1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Exercise Intolerance, Riboflavin-Responsive	Exercise intolerance, Ragged-red muscle fibers	OMIM:616839
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho...	OMIM:609115
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Nemaline Myopathy 6	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:609273
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase...	OMIM:224120
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Nonaka Myopathy	Elevated circulating creatine kinase concentration, Distal amyotrophy, EMG: myopathic abnormaliti...	OMIM:605820
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Myopathy, Myofibrillar, 3	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Distal amyotroph...	OMIM:609200
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu...	OMIM:616199
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Miscarriage, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
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
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration	OMIM:609500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis	ORPHA:75563
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Elevated circulating creatine kinase concentration, Muscle fiber cytoplasm...	OMIM:609524
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Myopathy, Vacuolar, With Casq1 Aggregates	Myalgia, Elevated circulating creatine kinase concentration, Muscle fiber calsequestrin 1-contain...	OMIM:616231
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce...	OMIM:210250
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl...	OMIM:615424
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Carnitine Deficiency, Myopathic	Myopathy, Reduced muscle carnitine level	OMIM:212160
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Abetalipoproteinemia	Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Increas...	OMIM:613313
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am...	OMIM:158600
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat...	ORPHA:86841
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Mitochondrial Myopathy With Diabetes	Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re...	OMIM:500002
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Welander Distal Myopathy	Distal amyotrophy, Mildly elevated creatine kinase, Rimmed vacuoles	OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea...	OMIM:618129
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu...	OMIM:617514
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Myopathy, Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentra...	ORPHA:206599
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Microcytic anemia	OMIM:618852
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ...	ORPHA:270
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele...	OMIM:232800
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce...	OMIM:603552
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc...	ORPHA:480520
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Elevated circulating creati...	ORPHA:178464
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Skeletal muscle atrophy, Myopathy, Congenital contracture, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k...	OMIM:618655
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter...	ORPHA:1878
Bethlem Myopathy 1	Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A...	OMIM:158810
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Creatine Phosphokinase, Elevated Serum	Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My...	OMIM:123320
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233710
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Elevated circulating C-reactive protein concentration, BCGosis, Hepatomega...	OMIM:619644
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy...	OMIM:253601
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ...	OMIM:619477
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Hand muscle weakness, Centrally nucleated ske...	OMIM:614321
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233690
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Increased erythrocyte protoporphyrin conce...	OMIM:300752
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Elevated circulating creatine kinase concentration	OMIM:606768
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis	OMIM:200150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym...	ORPHA:158057
Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast...	OMIM:258900
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Pet...	OMIM:314050
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re...	OMIM:616209
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Hepatomegaly, Autoimmune thromb...	OMIM:614470
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Abnormal pericardium m...	ORPHA:67
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acidosis, Orot...	OMIM:616457
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas...	OMIM:274150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Highly elevated creatine kinase, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho...	ORPHA:79278
Oculopharyngodistal Myopathy 2	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas...	OMIM:618940
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Hypocholesterolemia, Increas...	ORPHA:71
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Myopathy, Ragged-red muscle fibers	OMIM:545000
Myopathy, Tubular Aggregate, 1	Elevated circulating creatine kinase concentration, Flexion contracture, Type 2 muscle fiber atro...	OMIM:160565
Acetyl-Coa Carboxylase Deficiency	Myopathy	OMIM:613933
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ...	OMIM:181400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m...	OMIM:611590
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei...	OMIM:614034
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuri...	ORPHA:54057
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Bethlem Myopathy 2	Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat...	OMIM:616471
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp...	OMIM:618805
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Mildly elevated creatine kinase, Fiber type grouping	OMIM:614369
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Exercise intolerance, Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal...	ORPHA:457050
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Copper accumulation in liver, Aminoaciduria, Elevated hepatic iron concentratio...	OMIM:614946
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia, Recurrent infections	ORPHA:1195
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Jaundic...	ORPHA:108
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Decreased activity of NADPH oxidase, Granulomatosis, Hepatomegaly, ...	OMIM:306400
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a...	OMIM:230350
Rhabdomyolysis, Susceptibility To, 1	Exercise intolerance, Elevated circulating creatine kinase concentration, Centrally nucleated ske...	OMIM:620235
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia	OMIM:247800
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, Ab...	ORPHA:399081
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat...	OMIM:601954
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Gast...	ORPHA:276435
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Elevated circulating creatine kinase conce...	OMIM:620386
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Ataxia, Hepatomegaly	ORPHA:2274
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Elevated circu...	OMIM:608423
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia	OMIM:615010
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic transami...	ORPHA:1667
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Cirrhosis, Unconjugated h...	OMIM:613280
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated circulating creatine kinase concentration, Myopathy, Limb-girdle muscular dystrophy, Inc...	OMIM:612937
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Erythema, Hepatic failure, Cholelithiasis	OMIM:177000
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevated circulating c...	OMIM:254110
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Quadriceps muscle atrophy, Elevated circulating creatine kinase concentration, Calf...	OMIM:611307
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Proximal muscle w...	OMIM:619216
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Recurr...	ORPHA:168577
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Fai...	OMIM:618278
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration	OMIM:607091
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kinase concentration, Fatty ...	ORPHA:266
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level	ORPHA:32
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Cystic Echinococcosis	Abnormal peritoneum morphology, Renal cyst, Elevated gamma-glutamyltransferase level, Peritoneal ...	ORPHA:400
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Skeletal muscle atrophy, Myopathy	ORPHA:2597
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Hypercholesterolemia, Increased variability in muscle fiber diamet...	ORPHA:488650
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration...	ORPHA:424107
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Tempi Syndrome	Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele...	ORPHA:53693
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Myalgi...	ORPHA:171442
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentratio...	ORPHA:97240
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lower limb amyotrop...	OMIM:616924
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Renal insufficie...	OMIM:245900
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Immunodeficiency 84	Splenomegaly, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hepatic failure, Elevated circulating creatinine concentration, Incre...	OMIM:617872
Porphyria, Acute Hepatic	Hemolytic anemia, Failure to thrive	OMIM:612740
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia	ORPHA:366
Myopathy, Centronuclear, 4	Exercise intolerance, Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine k...	OMIM:614807
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Elevated circulating cr...	OMIM:619733
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Increased circulating...	ORPHA:139507
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy...	OMIM:167320
Mitochondrial Dna Depletion Syndrome 18	Lacticaciduria, Microcytic anemia	OMIM:618811
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Glyoxalase deficiency, Reduced glutathione synthetase level	OMIM:231900
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Positive ferric chloride test, Aminoaciduria, Elevated urinary formiminoglu...	OMIM:229100
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620286
Aceruloplasminemia	Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagne...	ORPHA:398063
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent streptococcal infections, Recurrent staphylococca...	OMIM:607676
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:310440
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Generalized hyperpigmentation, Congenital hepatic fibrosis, Increa...	ORPHA:79230
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections...	OMIM:608957
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, In...	OMIM:613845
Atypical Hemolytic Uremic Syndrome	Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:2134
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, Hypocalcemia	ORPHA:172
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal...	ORPHA:59135
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Reduced glutathione synthetase...	OMIM:266130
Hereditary Continuous Muscle Fiber Activity	Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Type 1 muscl...	ORPHA:972
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E...	OMIM:609452
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Splenomegaly, Jaundice,...	OMIM:615512
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Muscle Filaminopathy	Extremely elevated creatine kinase, Back pain, Scapular winging, Fatty replacement of skeletal mu...	ORPHA:171445
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia,...	OMIM:226300
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske...	OMIM:611705
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, H...	ORPHA:79477
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia,...	OMIM:613179
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Severe infection, Hepatiti...	OMIM:304790
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:231111
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Abcd Syndrome	Polycythemia	OMIM:600501
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Myopathy, Distal, 3	Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur...	OMIM:610099
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Distal Myotilinopathy	Multiple joint contractures, Elevated circulating creatine kinase concentration, Distal amyotroph...	ORPHA:98911
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen...	OMIM:300696
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Classic Galactosemia	Reduced bone mineral density, Male infertility, Hepatomegaly, Premature ovarian insufficiency, At...	ORPHA:79239
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He...	OMIM:619750
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem...	ORPHA:3111
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac...	OMIM:300695
Central Core Disease	Multiple joint contractures, Elevated circulating creatine kinase concentration, Myopathy, Abnorm...	ORPHA:597
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Miyoshi Muscular Dystrophy 1	Elevated circulating creatine kinase concentration, Distal amyotrophy, Muscular dystrophy, Lower ...	OMIM:254130
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep...	OMIM:618999
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca...	ORPHA:96180
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Myopathy, Exercise intolerance, Elevated circulating creati...	OMIM:255100
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Myofibrillar Myopathy 11	Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M...	OMIM:619178
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Glycogen Storage Disease X	Exercise intolerance, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopath...	OMIM:261670
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Ataxia, Abnormality of neutrophils, Splen...	ORPHA:381
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Mildly elevated ...	ORPHA:399086
Formiminoglutamic Aciduria	Anemia, Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine conc...	ORPHA:51208
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Familial Benign Copper Deficiency	Decreased circulating copper concentration, Anemia	ORPHA:1551
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Pallor, Hypertro...	OMIM:613561
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Cutaneous photosensitivit...	OMIM:152700
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Decreased HDL cholesterol concentration, Hypertri...	OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple...	OMIM:603554
Mitochondrial Complex I Deficiency, Nuclear Type 25	Myopathy, Nemaline bodies	OMIM:618246
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Small for gestational age, Ventricular septal defect, Ext...	OMIM:617021
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
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
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Elevated circulating cr...	ORPHA:90038
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc...	OMIM:600462
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Sepsis, Iron deficiency anemia, Tubulointerstitial ne...	ORPHA:37042
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, A...	ORPHA:86812
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Pancreatic Colipase Deficiency	Growth delay, Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Familial Hemophagocytic Lymphohistiocytosis	Colitis, Hypoalbuminemia, Neutropenia, Ecchymosis, Infectious encephalitis, Hepatomegaly, Maculop...	ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hep...	OMIM:603553
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia, Recurrent infections	OMIM:615789
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Hyperlysinemia, Type I	Hyperlysinemia, Anemia	OMIM:238700
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Aminoaciduria, Lymphocy...	OMIM:619991
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Elevated circulating creatine kinase concentration, Quadriceps muscle weakness,...	OMIM:603689
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact...	OMIM:613500
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:601846
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill...	ORPHA:79124
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Myopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brachydactyly	OMIM:610140
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea...	OMIM:300580
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen...	OMIM:613501
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Splenomegaly, Cryptorchidism, Spherocytosis, Mitral valve prolap...	ORPHA:251066
Breath-Holding Spells	Iron deficiency anemia, Cyanosis, Pallor	OMIM:607578
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu...	OMIM:608971
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Small for gestational age, Pericardial effusion, Normochromic anemia, ...	OMIM:618775
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis...	ORPHA:533
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Cerebral palsy, Dystonia, Microcytic anemia, Chorea, Babinski sign, Choreoathetosis, Hypertonia, ...	OMIM:618451
Congenital Myopathy 4B, Autosomal Recessive	Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,...	OMIM:609284
Melioidosis	Brain abscess, Unusual skin infection, Liver abscess, Lung abscess, Foot osteomyelitis, Pneumonia...	ORPHA:31202
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, Hematuria, Nephrotic...	OMIM:608709
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch...	OMIM:301310
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation...	ORPHA:309854
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Increased cerebral lipofuscin, Anemia, Myo...	OMIM:610539
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Impaired pain sensation, Limb atax...	OMIM:616719
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosi...	OMIM:603909
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Ataxia, Babinski sign, Impaired vibration sensation in the lowe...	OMIM:159550
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga...	OMIM:208085
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai...	OMIM:615816
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Sudden cardiac death...	OMIM:310300
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Reduced muscle...	ORPHA:280333
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Cerebral atrophy, Eyelid myoc...	OMIM:613839
Nemaline Myopathy 7	Fatty replacement of skeletal muscle, Knee flexion contracture, Shoulder girdle muscle weakness, ...	OMIM:610687
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my...	ORPHA:169090
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Microcytic anemia	OMIM:618972
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated circulati...	OMIM:308240
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Chronic oral candidiasis, Failure to thrive, Hepatomegaly, Pneumocystis carinii...	OMIM:308230
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro...	ORPHA:443811
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, El...	OMIM:235555
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Nephronophthisis	Anemia	ORPHA:655
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Elevated circulating cre...	OMIM:160500
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati...	OMIM:610198
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac...	ORPHA:398124
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Pulmonary Arteriovenous Malformation	Brain abscess, Liver abscess, Cyanosis, Telangiectasia, Iron deficiency anemia, Recurrent abscess...	ORPHA:2038
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration, Death in i...	OMIM:614876
Nemaline Myopathy 8	Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies	OMIM:615348
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform	OMIM:302045
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra...	OMIM:617069
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Elevated circulating creatine kinase concentrat...	ORPHA:309169
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, E...	OMIM:619566
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre...	ORPHA:905
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:613204
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Malignant Hyperthermia, Susceptibility To, 2	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154275
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Myalgia, Elevated creatine ki...	ORPHA:352470
Glycogen Storage Disease Ixd	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:300559
Edinburgh Malformation Syndrome	Jaundice, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Neutropenia, Meningitis, Hepatomegaly, Leu...	ORPHA:90051
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Respiratory paralysis, Cutaneous photosensitivity	OMIM:121300
Mucopolysaccharidosis-Plus Syndrome	Sepsis, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, Atrial septal...	OMIM:617303
Cernunnos-Xlf Deficiency	Recurrent viral infections, Anemia, T lymphocytopenia, Recurrent bacterial infections, B lymphocy...	ORPHA:169079
Chediak-Higashi Syndrome	Tremor, Leukopenia, Giant neutrophil granules, Neutropenia, Hypopigmentation of the skin, Iris hy...	OMIM:214500
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Follicul...	OMIM:615934
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Secundum atri...	OMIM:614868
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Shoulder g...	OMIM:603511
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Horseshoe kidne...	ORPHA:46059
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Jaundice...	OMIM:263700
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ...	ORPHA:446
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m...	OMIM:603034
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C...	OMIM:613530
Abetalipoproteinemia	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Reticulocyt...	ORPHA:14
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Elevat...	ORPHA:57
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur...	ORPHA:251004
Cimdag Syndrome	Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Microvesicular hepatic steatosis, Chorea, Cer...	OMIM:619273
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Congenital Erythropoietic Porphyria	Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopenia, Erythroi...	ORPHA:79277
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Recurrent viral infect...	OMIM:619573
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Neutral Lipid Storage Disease With Myopathy	Exercise intolerance, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, I...	OMIM:610717
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Myopathy, Myofibrillar, 2	Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadriceps muscl...	OMIM:608810
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Hepatomega...	OMIM:300635
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Thrombocytopenia, Jaundice,...	ORPHA:290
Malignant Hyperthermia, Susceptibility To, 3	Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia...	OMIM:154276
Acatalasemia	Microcytic anemia	ORPHA:926
Childhood-Onset Nemaline Myopathy	Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene...	ORPHA:171439
Hypokalemic Periodic Paralysis, Type 2	Myopathy, Hypokalemia	OMIM:613345
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Eczema, H...	OMIM:170100
Myasthenic Syndrome, Congenital, 25, Presynaptic	Myopathy, Flexion contracture, Generalized amyotrophy	OMIM:618323
Familial Isolated Dilated Cardiomyopathy	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:154
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Generalized w...	ORPHA:353327
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic...	OMIM:236270
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu...	OMIM:613157
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Dpm3-Cdg	Calf muscle hypertrophy, Chest pain, Muscular dystrophy, Pelvic girdle muscle weakness, Elevated ...	ORPHA:263494
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Myopathy And Diabetes Mellitus	Distal lower limb amyotrophy, Exercise intolerance, Achilles tendon contracture, Proximal amyotro...	ORPHA:2596
Graft Versus Host Disease	Fasciitis, Myositis, Gastrointestinal inflammation, Acute hepatitis, Maculopapular exanthema, Hep...	ORPHA:39812
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, Neu...	OMIM:611721
Galactosemia Ii	Galactosuria, Hypergalactosemia, Prolonged neonatal jaundice	OMIM:230200
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Jaundice, Sepsis, Neutropenia in presence of anti-neutropil antibodi...	ORPHA:464370
Isolated Glycerol Kinase Deficiency	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:408
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Myop...	ORPHA:97244
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Myopathy, Pelvic gir...	ORPHA:119
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia	OMIM:250940
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter	OMIM:616816
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske...	OMIM:619790
Complement Factor H Deficiency	Hematuria, Recurrent bacterial infections, Chronic kidney disease	OMIM:609814
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Failu...	ORPHA:99931
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	OMIM:608184
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st...	OMIM:615438
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Diamond-Blackfan Anemia 5	Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Recurrent infe...	OMIM:617056
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren...	OMIM:613493
Thrombocytopenia 2	Leukocytosis, Bruising susceptibility, Thrombocytopenia	OMIM:188000
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased...	OMIM:619632
Poems Syndrome	Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Ascites, Polycythemia, Vis...	ORPHA:2905
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Re...	OMIM:269840
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Proteinuria, Small for gestational age, Microscopic hematuria, Minimal change ...	ORPHA:1830
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino...	OMIM:608340
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F...	OMIM:620246
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent...	ORPHA:206569
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Myopathy Due To Myoadenylate Deaminase Deficiency	Exercise-induced myalgia, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy	OMIM:615511
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Microcytic anemia, Me...	OMIM:612073
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Postexertional symptom exacerbation, Abnormality of ra...	ORPHA:166002
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H...	OMIM:251900
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy	OMIM:605809
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Recurrent respiratory infections	ORPHA:139406
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Srd5A3-Cdg	Elevated hepatic transaminase, Microcytic anemia	ORPHA:324737
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect...	OMIM:620135
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Combined Oxidative Phosphorylation Deficiency 28	Increased serum pyruvate, Fatigue, Ragged-red muscle fibers, Abdominal pain	OMIM:616794
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Ataxia, Autoimmune thrombocyto...	ORPHA:77293
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Ataxia, Thrombocytopenia, Paraparesis, Hyperammonemia, Choreoath...	ORPHA:27
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Chronic Bilirubin Encephalopathy	Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N...	ORPHA:529808
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration...	OMIM:616050
Acute Bilirubin Encephalopathy	Neonatal sepsis, Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, N...	ORPHA:529799
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Shigellosis	Abnormal blood ion concentration, Sepsis, Uveitis, Conjunctivitis, Acute colitis, Hyponatremia, A...	ORPHA:810
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Ventricular septal defect, Megaloblastic anemia, Pallor, Atrial septal defect, Thr...	ORPHA:49827
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat...	OMIM:618495
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Elevated circulating creatin...	OMIM:300717
Glycine N-Methyltransferase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia	OMIM:606664
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microcytic anemia	OMIM:612379
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine...	ORPHA:329478
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Medullary nephrocalcinosis, Poikilocytosis, Acanthocytosis	OMIM:618947
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia	OMIM:616873
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Elevated circulating cre...	OMIM:611615
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Livedoid Vasculopathy	Pancytopenia, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid concentration, Polycy...	ORPHA:542643
Plummer-Vinson Syndrome	Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:54028
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fib...	ORPHA:171
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Anemia, Cardiomyopathy, Neutrope...	ORPHA:79312
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation, Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Flexion contracture, Increased variability in...	OMIM:300718
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral density, Hy...	ORPHA:2720
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Hypoglycosylation of alpha-dystroglycan, Scapular winging, Elevated circulating creatine kinase c...	OMIM:616052
Galactosemia Iv	Prolonged neonatal jaundice	OMIM:618881
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf...	OMIM:617475
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ...	ORPHA:97280
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Hypophosphatasia, Childhood	Myopathy, Elevated plasma pyrophosphate, Bowing of the legs	OMIM:241510
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Facial palsy, Elevated circulating creatine kinase concentration, Ragge...	OMIM:500009
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia	OMIM:616744
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Hemophagocytic Syndrome Associated With An Infection	Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Severe cytomegalovirus infection, C...	ORPHA:158048
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hyperkinetic movements, Cholelit...	ORPHA:3166
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr...	ORPHA:1572
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Klippel-Trénaunay Syndrome	Hematuria, Hepatomegaly, Microcytic anemia	ORPHA:90308
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Combined Oxidative Phosphorylation Deficiency 49	Exercise intolerance, Ragged-red muscle fibers, Myalgia, Elevated circulating creatine kinase con...	OMIM:619024
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele...	OMIM:620249
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive...	ORPHA:160
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Elevated circulating creatine kinase concentration, Myopathy, Muscular dystrophy, I...	OMIM:602541
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatome...	OMIM:615387
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa...	ORPHA:2924
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Ménétrier Disease	Hypoproteinemia, Helicobacter pylori infection, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva...	ORPHA:98855
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ...	ORPHA:75840
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Hypochromic microcytic anemia, Mild proteinuria, H...	OMIM:619147
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Exercise intolerance, Elevated circulating creatine kinase concentration, Myopathy, Shoulder gird...	OMIM:615156
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration	OMIM:619423
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:620138
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Spinal muscular atrophy, Facial palsy, Elevated circulating creatine...	OMIM:301830
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutro...	OMIM:612541
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al...	ORPHA:352479
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral in...	ORPHA:169154
Leber Hereditary Optic Neuropathy	Myopathy	ORPHA:104
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ...	OMIM:617018
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Recurrent pharyngitis...	ORPHA:549
Pantothenate Kinase-Associated Neurodegeneration	Abetalipoproteinemia, Acanthocytosis	ORPHA:157850
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt...	OMIM:229050
Transaldolase Deficiency	Telangiectasia, Anemia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Cirrhos...	ORPHA:101028
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Mildly elevated creatine kinase, Proximal amyotrophy	OMIM:610542
Rosaï-Dorfman Disease	Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:1980
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,...	ORPHA:3226
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myalgia, Myopathy	ORPHA:2349
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Complement Factor B Deficiency	Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease	OMIM:615561
Combined Oxidative Phosphorylation Deficiency 6	Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Autosomal Recessive Progressive External Ophthalmoplegia	Exercise intolerance, Scapular winging, Facial palsy, Elevated circulating creatine kinase concen...	ORPHA:254886
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, My...	OMIM:615924
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Dystonia, Ataxia, Bone-marrow foam cells, Fetal asc...	OMIM:257220
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Hypochromic...	ORPHA:66634
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst, Elevated circulating alkaline phosphatase concentration, As...	OMIM:174050
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib...	ORPHA:33355
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ...	OMIM:617070
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Calf...	ORPHA:34515
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec...	OMIM:613502
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentrati...	ORPHA:353
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug...	ORPHA:30391
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Increased muscle glycogen content, Hyperuricemia, Anemia	ORPHA:371
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Hypochromic anemia	OMIM:606893
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hep...	OMIM:102700
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ...	OMIM:618116
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Increased circulating lactat...	ORPHA:158061
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflamm...	ORPHA:49041
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia,...	OMIM:150550
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ankl...	OMIM:613818
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Recurrent respiratory infections, Hypospadias, Megaloblastic anemia, Abnormal erythrocyte morphol...	ORPHA:2575
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Progeroid facial appearance, Lymphocytosis, Microscopic hematuria, H...	ORPHA:79087
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Sepsis, Hyperammonemia, Renal tubular dysfunction, Anemia, Neu...	ORPHA:289916
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir...	OMIM:613095
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Recurrent upper respiratory tract infections, Anemia	OMIM:620296
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Ataxia, Babinski sign, Osteoporosis, Abnormal pyramidal sign, Cerebral atroph...	OMIM:213700
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration	ORPHA:300179
Hernia, Anterior Diaphragmatic	Congenital diaphragmatic hernia	OMIM:306950
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	OMIM:619473
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase concentration, Increa...	OMIM:614399
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre...	ORPHA:48435
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy	OMIM:619302
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa...	OMIM:613404
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe...	ORPHA:678
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Elevated circulating creatine kinase conc...	OMIM:615418
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva...	ORPHA:98863
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Hepatic hemangioma, Polycythemia, Pancreatic cysts	OMIM:193300
Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva...	ORPHA:98853
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure	OMIM:143500
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Cerebral...	OMIM:614886
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:620265
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Increased circulating IgM l...	ORPHA:37748
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cerebellar atrophy, Splenomegaly, Cere...	OMIM:610333
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ...	ORPHA:440713
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Petechiae, Hyperkalemia, Sepsis, A...	OMIM:617053
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor	ORPHA:90033
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Eleva...	OMIM:607855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, B lymphocytopeni...	OMIM:612692
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Myop...	OMIM:615980
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu...	ORPHA:2688
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Ecchymosis, Decreased g...	ORPHA:340
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu...	OMIM:193670
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentr...	ORPHA:89937
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia, Dystonia	OMIM:607906
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Hypokalemic Periodic Paralysis, Type 1	Myopathy, Hypokalemia	OMIM:170400
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tons...	OMIM:616005
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media...	ORPHA:809
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal...	ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Abnormal glycosphingolipid metaboli...	ORPHA:796
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho...	OMIM:300988
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, P...	ORPHA:2330
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Hypospadias, Microcytic anemia, Recurren...	ORPHA:2959
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy...	ORPHA:100026
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Limb muscle weaknes...	OMIM:609560
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn...	OMIM:222470
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chro...	OMIM:616622
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Recurrent infections	OMIM:613652
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle...	OMIM:619903
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis...	OMIM:240300
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E...	OMIM:617072
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Adducted Thumbs Syndrome	Myopathy, Arthrogryposis multiplex congenita	OMIM:201550
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr...	ORPHA:486
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia, Anemia	ORPHA:510
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukoc...	ORPHA:77297
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression	ORPHA:330054
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Pericardia...	ORPHA:93552
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva...	OMIM:613070
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia	OMIM:245550
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f...	OMIM:251290
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph...	OMIM:616730
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Glycogen Storage Disease Iii	Myopathy, Distal amyotrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia	OMIM:232400
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Leukocytosis, Increased circulating IgE level, Increased circul...	OMIM:618213
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Premature gray...	ORPHA:33445
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:616812
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Elevated circulating creatine kinase concentration, Ce...	OMIM:248800
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Exercise intolerance, Skeletal muscle atrophy, Chronic fatigue, Spinal muscular atrophy, Myopathy...	ORPHA:254875
Myofibrillar Myopathy 10	Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow ...	OMIM:619040
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal...	OMIM:615846
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Pallor, Myeloid leukemia, Flushing, Hepatomegaly, Neutrophilia, Leukocytosis, ...	ORPHA:98849
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fibers, Hyp...	OMIM:618416
Nocardiosis	Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Abnormal heart valve morpho...	ORPHA:31204
Amme Complex	Hematuria, Elliptocytosis	OMIM:300194
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr...	ORPHA:88
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of the tonsi...	ORPHA:229717
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ...	ORPHA:397596
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El...	OMIM:608840
Immunodeficiency 102	Sepsis, Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific an...	OMIM:301082
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,...	ORPHA:811
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia, Paresthesia	ORPHA:3318
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Invasive fungal infection, Increa...	ORPHA:98813
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic...	ORPHA:20
Interstitial Lung And Liver Disease	Hepatomegaly, Cholestasis, Hyperammonemia, Hepatic fibrosis, Cirrhosis, Thrombocytosis, Hepatic s...	OMIM:615486
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ...	OMIM:606812
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Arthrogryposis multiplex congenita, Clinodactyly, Increased endomysial conne...	ORPHA:178148
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Mitral valve calcification, Pancytopenia, Cachexia, Poor wound healing, Splenomegaly, Aortic valv...	ORPHA:2072
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice	OMIM:262400
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Sepsis, Lymphaden...	OMIM:615122
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Myopathy	ORPHA:26792
Hereditary Methemoglobinemia	Cerebellar atrophy, Cyanosis, Spastic tetraplegia, Temporal cortical atrophy, Athetosis, Hyperton...	ORPHA:621
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Free Sialic Acid Storage Disease	Hepatomegaly, Ataxia, Splenomegaly, Abnormal pyramidal sign, Reduced bone mineral density, Abnorm...	ORPHA:834
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower...	ORPHA:882
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Recur...	OMIM:619463
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Myositis, S...	OMIM:617591
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin	ORPHA:90036
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure	OMIM:618549
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Atrial septal defect, Bicuspid aortic valve, Ventricular ...	ORPHA:84064
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Exercise intolerance, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber...	ORPHA:352447
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy	ORPHA:91130
Mitochondrial Complex I Deficiency, Nuclear Type 15	Myopathy, Flexion contracture	OMIM:618237
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta...	OMIM:614376
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, 3-Methylglutaconic aciduria, Granulocytopenia,...	OMIM:302060
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Darier's sign, Urticaria, Increased pr...	ORPHA:98848
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Flexion contracture, Myopathy	ORPHA:157973
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Iron deficiency ...	OMIM:212750
Combined Oxidative Phosphorylation Deficiency 18	Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Methylmalonic aciduria	OMIM:615578
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co...	ORPHA:676
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Telangiectasia of the skin, Portal hypertension, Microcytic anemia, ...	ORPHA:774
Cerebrotendinous Xanthomatosis	Osteopenia, Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology...	ORPHA:909
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Thrombocytopenia	ORPHA:2123
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr...	ORPHA:370348
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Sepsis, Thy...	ORPHA:39041
Sea-Blue Histiocytosis	Hepatomegaly, Hyperpigmentation of the skin, Petechiae, Splenomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Ventricular s...	OMIM:619418
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Myopathy, Abnormal circulating creatine kinase concentration, Limb-girdle muscular dystrophy, Mus...	ORPHA:369840
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Petechiae, Cerebellar calcifications, Sple...	OMIM:225750
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula...	OMIM:227810
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ...	ORPHA:272
Birk-Aharoni Syndrome	Micropenis, Macrocytic anemia	OMIM:620071
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased...	OMIM:608836
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Micropenis, Small for gestational age, Neonatal hyperbilirubinemia	ORPHA:3363
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Progeroid facial a...	ORPHA:90321
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf...	OMIM:614493
Lambert Syndrome	Ventricular septal defect, Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic bili...	ORPHA:1296
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati...	ORPHA:417
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Subcutaneous hemorrhage, Macrothrombocytopenia, Recurrent bacterial infections, Amin...	OMIM:603585
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased beta-glucocerebrosidase le...	OMIM:231000
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent s...	ORPHA:2968
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice...	OMIM:613471
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effusion, Myocarditis, Leuk...	ORPHA:292
Myopathy, Myofibrillar, 6	Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration, Knee flexion ...	OMIM:612954
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Absence of lymph node germinal center, Neutropenia	OMIM:606843
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato...	ORPHA:464329
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, El...	OMIM:614871
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Niemann-Pick Disease, Type C2	Hepatomegaly, Dystonia, Ataxia, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterifica...	OMIM:607625
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Extremely elevated creatine kinase, Upper limb muscle weakness, Distal amyotrophy, EMG: myopathic...	ORPHA:99939
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem...	OMIM:619525
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec...	OMIM:243700
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Limb muscle weakness, Type 1 muscle fiber predominance, Arthrogryposis multiplex co...	OMIM:161800
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Ventricular sept...	OMIM:615673
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci...	OMIM:618138
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Normochro...	OMIM:614857
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De...	OMIM:616299
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t...	OMIM:615415
Hyperkalemic Periodic Paralysis	Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Bowel ...	ORPHA:682
Hydroxykynureninuria	Jaundice	OMIM:236800
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level	OMIM:618042
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cerebellar atrophy, Agenesis of cer...	OMIM:610377
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy	OMIM:618236
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt...	OMIM:616100
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy, Cerebral atrophy	OMIM:160900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Iron def...	OMIM:301074
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Atrial septal defect, Proteinuria, Heparan sulfate excretion in...	ORPHA:505248
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Microcytic anemia, Abnormal isohe...	ORPHA:99843
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, ...	OMIM:616414
Congenital Myopathy 24	Scapular winging, Facial palsy, Abnormal circulating creatine kinase concentration, Talipes equin...	OMIM:617336
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, Hematuria, Nephrotic...	OMIM:613913
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Gray Platelet Syndrome	Myelofibrosis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Bruising susceptibil...	OMIM:139090
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo...	ORPHA:264580
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97278
Typical Nemaline Myopathy	Facial palsy, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Fl...	ORPHA:171436
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Micropenis, Microcytic anemia	ORPHA:293967
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, Cholelithiasis	ORPHA:171876
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ...	ORPHA:521219
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Recurrent respiratory infections, Hemoglobin...	ORPHA:90035
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97261
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Yellow Fever	Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Ac...	ORPHA:99829
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Failure to thrive, Thrombocytopenia	ORPHA:90045
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Elevated circulating creatine kinase concentration, Elevated ci...	OMIM:608779
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Necrolytic migratory...	ORPHA:438274
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Recurrent pharyngitis, Hepatosplenomegaly, Micropenis, E...	ORPHA:168569
Gaisböck Syndrome	Plethora, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin c...	ORPHA:90041
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne...	ORPHA:423479
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Increased i...	OMIM:255125
Congenital Myopathy 16	EMG: myopathic abnormalities, Scapular winging, Flexion contracture	OMIM:618524
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Elevated circulating creatine kinase concentration...	ORPHA:254361
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,...	OMIM:613490
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo...	OMIM:620310
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat...	ORPHA:589
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, Neutropenia, Atrial septal defect, H...	OMIM:277380
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest...	OMIM:260400
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection...	OMIM:612783
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci...	OMIM:614576
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Rhinitis,...	ORPHA:230
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentration, Centrally nuclea...	OMIM:255160
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Hepatic fail...	ORPHA:75233
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno...	ORPHA:234
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Skin rash, Abnormal...	ORPHA:36412
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom...	OMIM:277410
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Tremor, Splenomegaly, Jaundice, Ne...	ORPHA:525731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Facial palsy, Elbow contracture, Elevated circulating creatine kinase co...	OMIM:606612
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Acute colitis, Pneumonia, Meningitis, Leuk...	ORPHA:544482
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Hypermelanotic macule, Thrombocytopenia	OMIM:112200
Spinocerebellar Ataxia Type 38	Tremor, Somatic sensory dysfunction, Cerebellar atrophy, Gait ataxia	ORPHA:423296
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Ataxia, Jaundice, Decreased LDL cholestero...	ORPHA:79320
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic acid...	ORPHA:79284
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Exercise intolerance, Myopathy, Fatigue	OMIM:613077
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
King-Denborough Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, E...	OMIM:619542
Fibrodysplasia Ossificans Progressiva	Anemia	ORPHA:337
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Abnormality of ex...	ORPHA:79262
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata...	OMIM:607317
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ...	ORPHA:95159
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur...	OMIM:617718
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Cholestasis, Progressive Familial Intrahepatic, 5	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	OMIM:617049
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Erythema, Chron...	OMIM:147060
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Bone marrow hypocellularity, Unilateral renal agenesis, Neutropenia	OMIM:614900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp...	OMIM:620210
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Erythema, Hypopigmented skin patches, Lymphadenopathy, Irregular hype...	ORPHA:2584
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Elevated circulating creatine kinase concentration, Decreased liver function, N...	OMIM:618835
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Slurred...	OMIM:256550
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Ventricular septal defect, Minimal change glome...	OMIM:618348
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Axial Osteomalacia	Myopathy, Elevated circulating creatine kinase concentration	OMIM:109130
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Ataxia, Tremor, Splenomegaly, Low alkaline phosphatase, Decrease...	OMIM:201100
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Elevated circulating creatine kinase concentration, Decreased liver function, N...	OMIM:618839
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:228305
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hyperammone...	ORPHA:42
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia, Cerebellar atrophy	OMIM:615945
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, G...	OMIM:155100
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy...	ORPHA:2141
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy	OMIM:616549
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl...	ORPHA:169189
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice	OMIM:614972
Marinesco-Sjögren Syndrome	Short palm, Skeletal muscle atrophy, Coxa valga, Avascular necrosis of the capital femoral epiphy...	ORPHA:559
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Metrorrhagia, Menorrhagia, Pulmonic stenosis, Hypochromic a...	ORPHA:99147
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Subcutaneous lipoma, Hypercalcemia, Elevated circulating ...	ORPHA:97283
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Premature graying of hair, Bone marro...	OMIM:614742
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:289390
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, T...	OMIM:606003
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Recurrent bacterial infections, Eczematoid dermatitis, Absent circulating ...	OMIM:619693
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Atrial septal defect, Bilateral fetal pyelectasis, La...	OMIM:300868
Allan-Herndon-Dudley Syndrome	Dystonia, Ataxia, Cryptorchidism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia, Ch...	ORPHA:59
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cerebral atrophy, Elevated circulating alk...	OMIM:618268
Sengers Syndrome	Fatigue, Myopathy, Exercise intolerance, Sudden cardiac death	OMIM:212350
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Anemia, Cardiomegaly	OMIM:618838
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Abnormal platelet count, Menorrhagia, Impaired collagen-induced platelet...	OMIM:614201
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pain insensitivity, Cryptorchidism, Babinski sign, Lower limb hypertonia, Cholelithiasis, Spastic...	OMIM:300534
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Hyperammonemia, Methylmalonic acid...	OMIM:251110
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Glomerulopathy, Megalo...	ORPHA:79282
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis	ORPHA:134
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100075
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Cerebellar hy...	OMIM:615768
Ataxia-Telangiectasia	Elevated hepatic transaminase, Hypopigmentation of hair, Prematurely aged appearance, Telangiecta...	ORPHA:100
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Lymphadeno...	ORPHA:536
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Cerebral atrophy, Frontotempor...	OMIM:613489
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ...	OMIM:608233
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g...	OMIM:261750
Autosomal Dominant Optic Atrophy Plus Syndrome	Fatigue, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia	ORPHA:30
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem...	OMIM:615957
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi...	ORPHA:2169
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Short stature, Anemic pallor, Thrombocytopenia, Cryptorc...	OMIM:600901
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Abnormal heart morphology, Aminoaciduria...	OMIM:214110
Complement Component 4A Deficiency	Cutaneous photosensitivity, Glomerulonephritis, Purpura	OMIM:614380
Neutrophil Immunodeficiency Syndrome	Poor wound healing, Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Peroxisome Biogenesis Disorder 7A (Zellweger)	Hepatomegaly, Elevated circulating hexacosanoic acid concentration, Jaundice, Epiphyseal stipplin...	OMIM:614872
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Progressive cerebellar ataxia, Spastic tetraparesis, Dystonia	ORPHA:67046
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Primary am...	OMIM:612526
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Stillbirth...	ORPHA:85212
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Recurrent respiratory infections	ORPHA:77260
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Sep...	ORPHA:94093
C1Q Deficiency 2	Elevated circulating C-reactive protein concentration, Sepsis, Recurrent otitis media, Recurrent ...	OMIM:620321
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cerebral atrophy, Cardiomyopathy, Hypogonadism	OMIM:608540
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:614727
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Tremor, Elevated circulating phytanic acid concentration,...	OMIM:614307
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocy...	ORPHA:760
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto...	ORPHA:3260
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L...	ORPHA:50918
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil ...	OMIM:618986
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:228302
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hydronephrosis, Thro...	OMIM:222300
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Tr...	ORPHA:2590
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura	OMIM:254450
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy	OMIM:618234
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto...	ORPHA:2070
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Depigmentation/hyperpigmentation of skin, Calvarial hyperostos...	OMIM:176920
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, H...	OMIM:606054
Hijazi-Reis Syndrome	Recurrent respiratory infections, Recurrent ear infections, Hyperbilirubinemia	OMIM:301094
Spinocerebellar Ataxia With Epilepsy	Hyperalaninemia, Myopathy	ORPHA:254881
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Recurrent viral infections, Splenomegaly, Lymphad...	OMIM:609981
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k...	OMIM:613954
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Opportunistic bacterial inf...	ORPHA:2035
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:2785
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit...	ORPHA:89842
Tufted Angioma	Anemia, Petechiae, Thrombocytopenia, Purpura	ORPHA:1063
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly	ORPHA:2204
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu...	OMIM:615468
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Urticari...	OMIM:120100
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cy...	ORPHA:18
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Anemia, Hypocalcemia, Hyperbilirubine...	ORPHA:163979
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Impaired vibratory sensation, Hepatomegaly, Clonus, Poor coordination, Abnormal pyramidal sign, S...	OMIM:238970
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Jaundice, Hepatosplen...	ORPHA:444490
Familial Isolated Hypoparathyroidism	Myopathy, Hypocalcemia	ORPHA:2238
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Polycythemia, Pancreatic islet cell adenoma, Pancreatic cysts	ORPHA:892
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Abnormal ...	ORPHA:79408
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Elevated circulating creatinine concentration, Cholestasis, Anemi...	OMIM:608104
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Short stature, Anemic pallor, Thrombocytopenia, Cryptorc...	OMIM:227650
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Prolonged neonatal jaundice	OMIM:618512
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Hepatic steatosis, Pancytopenia, Recurrent urinary tract infection...	OMIM:613658
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia	ORPHA:171719
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Purpura, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced ...	OMIM:273800
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:614887
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Lymphadenopathy, Arthritis, Infec...	ORPHA:42642
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Skin rash, Abnormality of the pancreas,...	ORPHA:69665
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase, Increased intramyocellular lipid droplets,...	ORPHA:681
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma...	OMIM:615362
Orthostatic Hypotension 2	Anemia	OMIM:618182
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Pallor	ORPHA:79283
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Cutis marmorata, Myocarditis, Skin ulcer, Coombs-positive hemoly...	ORPHA:464343
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala...	OMIM:605911
Niemann-Pick Disease Type C	Bone-marrow foam cells, Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of th...	ORPHA:646
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Atrial septal defect, In...	OMIM:614866
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati...	OMIM:191900
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Primary Biliary Cholangitis	Portal hypertension, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Jaundice, Hepatic f...	ORPHA:186
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Pontocerebellar atrophy...	OMIM:616053
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi...	OMIM:616239
Sialidosis Type 2	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Osteoporosis, Ascites	ORPHA:87876
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebra...	ORPHA:521406
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased serum pyruvate, Fatigue, Exercise intolerance, Ragged-red muscle fibers, Chest pain, My...	ORPHA:1349
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes...	OMIM:614700
Ethanolaminosis	Cardiomegaly	OMIM:227150
Intermediate Osteopetrosis	Hepatosplenomegaly, Anemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia...	ORPHA:210110
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Ventricular septal defect, Short stature, Anemic pallor,...	OMIM:227645
Rift Valley Fever	Elevated hepatic transaminase, Miscarriage, Jaundice, Hepatitis, Anemia, Increased circulating Ig...	ORPHA:319251
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Hypermelanotic macule, Bile duct polyp, Biliary tract abnormality, Ovar...	OMIM:175200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal at...	ORPHA:363710
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	ORPHA:2388
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Mildly elevated creatine kinase	ORPHA:663
Acute Promyelocytic Leukemia	Pancytopenia, Petechiae, Chronic infection, Leukocytosis, Weight loss, Anemia, Leukopenia, Hematu...	ORPHA:520
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Congenital diaphragmatic hernia	OMIM:614100
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:609053
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, Abnormality o...	ORPHA:79456
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Urticaria, Nephrotic syndrome, Arth...	ORPHA:575
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Caudate atrophy, Hypertriglyceridemia, Ataxia,...	ORPHA:363400
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect...	OMIM:601495
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia...	ORPHA:380
Ogden Syndrome	Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Recurrent infections,...	OMIM:300855
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Cutis marmorata, Abnormality of neutrophils, Splenomegaly, Lymph...	ORPHA:33226
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar...	ORPHA:209919
Oslam Syndrome	Anemia	OMIM:165660
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the kidney, Abnormal renal cortex morphology, Abnormal heart morphology, Abnormali...	ORPHA:464321
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Cholelithiasis, Hypopigmentation of the skin	OMIM:301066
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Decreased c...	OMIM:212065
Xanthinuria, Type I	Myopathy, Hyperxanthinemia	OMIM:278300
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph...	OMIM:259700
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium	OMIM:611489
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Recurrent upper respiratory tract infections, Increased size of naso...	OMIM:619769
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ...	OMIM:618394
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia	OMIM:611174
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Fatigue, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Upper limb musc...	ORPHA:209335
Hydatidiform Mole	Miscarriage, Anemia	ORPHA:99927
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia, Recurrent infections	OMIM:620184
Diamond-Blackfan Anemia 7	Macrocytic anemia, Horseshoe kidney, Recurrent infections, Increased mean corpuscular volume, Rec...	OMIM:612562
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Fetal Encasement Syndrome	Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth	OMIM:613630
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri...	OMIM:233450
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra...	OMIM:213600
Acquired Methemoglobinemia	Cyanosis, Methemoglobinemia	ORPHA:464453
Bernard-Soulier Syndrome	Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro...	OMIM:231200
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Pineal cyst, Iron deficiency anemia, Decreased serum cre...	OMIM:618885
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p...	OMIM:618372
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, He...	ORPHA:90060
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Postnatal growth ret...	ORPHA:83617
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega...	ORPHA:77259
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iro...	ORPHA:100078
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ...	OMIM:166300
Methemoglobinemia And Ambiguous Genitalia	Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c...	OMIM:250790
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Cafe-au-...	OMIM:618541
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Recurrent upper respiratory...	OMIM:233600
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Junctional Epidermolysis Bullosa Inversa	Fragile skin, Anemia	ORPHA:79405
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Clonus, Babinski sign, Progressive cerebellar ataxia, Prolonged neonatal jaun...	OMIM:618868
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascite...	OMIM:608013
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, S...	ORPHA:79083
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,...	OMIM:266265
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice...	OMIM:229600
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri...	OMIM:611302
Beckwith-Wiedemann Syndrome	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, A...	ORPHA:116
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy, Myo...	ORPHA:2348
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat...	ORPHA:251282
Sézary Syndrome	Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Irregular hyperpigmentation, Abnormal lympho...	ORPHA:3162
Ollier Disease	Lymphangioma, Anemia	ORPHA:296
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dyst...	OMIM:618224
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Normoch...	OMIM:254900
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Degcags Syndrome	Bilateral renal hypoplasia, Premature graying of hair, Leukopenia, Iron deficiency anemia, Atrial...	OMIM:619488
Vici Syndrome	Recurrent respiratory infections, Failure to thrive, Atrial septal defect, Left ventricular hyper...	OMIM:242840
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of liver, Elevated circulating c...	ORPHA:247691
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Aplasia/Hypoplasia of the cerebellum, Tremor, Cryptorchidism, Hypertonia, Abnormal mitral valve m...	ORPHA:1192
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb...	ORPHA:95715
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Fatigue, Exercise intolerance, Ragged-red muscle fibers, Limb muscle weakness, Myalgia, EMG: myop...	OMIM:609286
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Failure to thrive, Ventricular septal defect, Abnormal pulmonary valve morpho...	ORPHA:567
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Re...	OMIM:617052
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a...	ORPHA:57777
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Hypolysinemia, Splenomegaly, Increased circulating ferritin conc...	OMIM:222700
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Fatigue, Myopathy	ORPHA:257
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97282
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Ataxia, Increased neur...	ORPHA:79263
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Stuve-Wiedemann Syndrome 2	Neonatal death, Stillbirth, Thrombocytopenia, Death in adolescence	OMIM:619751
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na...	OMIM:615214
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ectopic kidney, Reticulocytopenia, Steroid-responsive anemia, Anemia	OMIM:613309
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemo...	ORPHA:797
Actinic Prurigo	Cheilitis, Cutaneous photosensitivity, Pyoderma, Glomerulonephritis	OMIM:174770
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616187
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv...	OMIM:612852
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Myalgia, Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester...	OMIM:232700
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Increa...	OMIM:185070
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdi...	OMIM:610185
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Severe infection, Rec...	ORPHA:2686
Urachal Cyst	Abdominal mass, Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abscess, ...	ORPHA:488
Pseudoachondroplasia	Brachydactyly, Increased laxity of fingers, Shortening of all metacarpals, Irregular carpal bones...	ORPHA:750
Tarp Syndrome	Extramedullary hematopoiesis, Cyanosis, Cryptorchidism, Tetralogy of Fallot, Atrial septal defect...	ORPHA:2886
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Granulocytopenia	OMIM:606164
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma, Cutaneous p...	ORPHA:79273
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He...	ORPHA:199299
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden...	ORPHA:545
Developmental And Epileptic Encephalopathy 75	Babinski sign, Cardiomyopathy, Decreased liver function, Frontal cortical atrophy, Prolonged neon...	OMIM:618437
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Abnormal heart valve morphology, Recurrent pharyngitis, Leu...	ORPHA:2331
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias	ORPHA:2522
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Recurrent pneumonia	OMIM:602271
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Mitochondrial Dna Depletion Syndrome 11	Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-re...	OMIM:615084
Digeorge Syndrome	Ventricular septal defect, Parathyroid agenesis, Short stature, Splenomegaly, Thrombocytopenia, O...	OMIM:188400
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, ...	OMIM:232200
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go...	ORPHA:95716
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Increased ...	OMIM:223900
Q Fever	Abnormality of the liver, Cholecystitis, Meningitis, Infectious encephalitis, Hepatomegaly, Macul...	ORPHA:781
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Anemia, Decreased ...	OMIM:615758
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno...	OMIM:601163
Self-Improving Dystrophic Epidermolysis Bullosa	Generalized abnormality of skin, Fragile skin, Anemia	ORPHA:79411
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Mildly ele...	ORPHA:401768
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, Pallor	ORPHA:3386
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Late-Onset Junctional Epidermolysis Bullosa	Fragile skin, Anemia	ORPHA:79406
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase...	OMIM:258450
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia	OMIM:614450
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Petechiae, Macrothrombocytopenia, Absence of alp...	OMIM:187900
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Autosomal Dominant Optic Atrophy, Classic Form	Fatigue, Skeletal muscle atrophy, Scapular winging, Myopathy, Myalgia, Weakness of facial muscula...	ORPHA:98673
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy	OMIM:616483
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:614162
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased serum iron	ORPHA:391372
Mevalonic Aciduria	Splenomegaly, Ataxia, Cerebral cortical atrophy	ORPHA:29
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Cryptococcal meningitis, Weight loss,...	ORPHA:90362
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly...	OMIM:256040
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Recurrent infections, Hyperechogenic pancreas, Thro...	OMIM:617941
Anti-Glomerular Basement Membrane Disease	Anemia, Purpura	ORPHA:375
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu...	ORPHA:79332
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Ataxia, P...	OMIM:203700
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Muscle-Eye-Brain Disease	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:588
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Abnormal...	ORPHA:93476
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Hip pai...	ORPHA:52430
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp...	ORPHA:647
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, HbH h...	OMIM:301040
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu...	ORPHA:729
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Elevated circulating creatine kinase...	OMIM:619518
Cryptogenic Organizing Pneumonia	Neutrophilia, Cyanosis, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig...	ORPHA:1302
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Recurrent upper respiratory tra...	OMIM:615952
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Wei...	ORPHA:1333
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Abnormal circulating creatine kinase concentrati...	OMIM:615959
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hyperlipidemia, Osteoporosis, Portal fib...	ORPHA:369
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Myopathy, Increased variability in muscle fiber diameter	OMIM:604377
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Lower limb muscle we...	ORPHA:99013
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente...	OMIM:300755
Cystinosis	Fatigue, Myopathy, Hypokalemia, Hypophosphatemia	ORPHA:213
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul...	OMIM:604173
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Hepatocellular...	OMIM:256810
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Lymphade...	ORPHA:29073
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Atrial septal defect, Cholangit...	OMIM:613610
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Flexion contr...	OMIM:254090
Thyroid Hemiagenesis	Jaundice	ORPHA:95719
Necrotizing Enterocolitis	Hyponatremia, Neonatal sepsis, Small for gestational age, Leukocytosis, Peritonitis, Abnormal hea...	ORPHA:391673
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver	ORPHA:205
Myotubular Myopathy With Abnormal Genital Development	Myopathy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c...	ORPHA:542323
46,Xy Sex Reversal 4	Renal dysplasia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Re...	OMIM:154230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated creatine kinase after exercise, Sudden cardiac death, Elevated circulating acylcarnitine...	ORPHA:99901
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Facial palsy	OMIM:601419
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Recurrent pneumonia	OMIM:615637
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Cerebral atrophy, Atrial septal defect, Cholelithiasis, Spasticity	ORPHA:464738
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Hereditary Xanthinuria	Chronic fatigue, Hypouricemia, Flank pain, Hyperxanthinemia, Myopathy	ORPHA:3467
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Hypospadias, Mitral sten...	ORPHA:163956
Congenital Diaphragmatic Hernia	Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia	ORPHA:2140
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Cholecystitis, Mo...	ORPHA:99827
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Dystonia, Tremor, ...	ORPHA:512
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Ataxia, Decreased liver fu...	OMIM:246900
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib...	OMIM:616503
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia...	OMIM:175700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Premature graying of hair, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical ...	OMIM:112250
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	OMIM:608799
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Elevated circulating aspartate aminotrans...	OMIM:619048
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Elevated circulating creatine kinase conc...	ORPHA:368
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive, Decreased acid cera...	OMIM:228000
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Increased...	OMIM:617916
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Amyotrophic Lateral Sclerosis 21	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H...	OMIM:606070
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Eczema, Sple...	OMIM:616651
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Pallor, Diffuse pancreatic islet hyperplasia, Hypertroph...	ORPHA:276575
Neutrophilic Dermatosis, Acute Febrile	Elevated circulating C-reactive protein concentration, Erythema, Anemia	OMIM:608068
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Eczema, Thrombocytopenia, Recurrent upper respiratory tract infecti...	ORPHA:508542
Trichohepatoenteric Syndrome 2	Decreased serum iron, Hepatomegaly, Cirrhosis, Chronic hepatitis	OMIM:614602
Kearns-Sayre Syndrome	Renal tubular acidosis, Sideroblastic anemia, Renal Fanconi syndrome	OMIM:530000
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypophosphatemia, Ty...	OMIM:619743
Combined Oxidative Phosphorylation Deficiency 33	Fatigue, Exercise intolerance, Elevated circulating creatine kinase concentration, Myopathy, Left...	OMIM:617713
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan...	OMIM:208500
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Ataxia, Epiphyseal stippling, Progressive spasticity	ORPHA:251009
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Jaundice, Cirrhosis, Irregular hyperpigmentation, Ascit...	ORPHA:779
Joubert Syndrome 33	Oculomotor apraxia, Splenomegaly, Ataxia	OMIM:617767
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria...	OMIM:618387
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp...	ORPHA:509
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Pigmentary retinopathy, Progressive cerebellar ataxia, ...	OMIM:164500
Carcinoid Syndrome	Myopathy, Night sweats, Abnormal B-type natriuretic peptide concentration, Episodic abdominal pain	ORPHA:100093
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Pallor, Diffuse pancreatic islet hyperplasia, Hypertroph...	ORPHA:276556
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spastic paraparesis, Apraxia, Olivop...	OMIM:615157
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized lim...	ORPHA:98908
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Tremor, Cryptorchidism, Jaundice, Hypertonia, Hypoproteinemia	OMIM:608093
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Elliptocytosis, Hypercalciuria, Anemia	OMIM:300990
Monosomy 22	Micropenis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Dermotrichic Syndrome	Anemia	ORPHA:99688
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Babinski sign, Cerebellar hypoplasia, Apr...	OMIM:616354
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe...	ORPHA:51636
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Pancytopenia, Diffuse cerebral atrophy, Hypergonadotropic hypogonadism, Ataxi...	OMIM:607426
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia	OMIM:300322
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Joubert Syndrome 8	Hepatomegaly, Ataxia, Pigmentary retinopathy, Hypertonia, Prolonged neonatal jaundice, Oculomotor...	OMIM:612291
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Death in infancy, Splenomegaly, Decreased circulating total IgM, Hypocalcemic seizu...	OMIM:612301
Cog2-Cdg	Diffuse cerebral atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:435934
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Scleromyxedema	Elevated circulating creatine kinase concentration, Hypoperistalsis, Abnormal skeletal muscle mor...	ORPHA:167635
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Paramyotonia Congenita Of Von Eulenburg	Facial muscle hypertrophy, EMG: myopathic abnormalities, Myalgia, Abnormal blood potassium concen...	ORPHA:684
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Diffuse cerebral atrophy, Decreased circulating ceruloplasmin conc...	OMIM:617395
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co...	OMIM:617099
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Exercise intolerance, Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompacti...	OMIM:252011
Sneddon Syndrome	Cutis marmorata, Bicuspid aortic valve, Tremor, Livedo reticularis, Livedo, Hemiplegia, Impaired ...	OMIM:182410
Optic Atrophy 1	Pallor	OMIM:165500
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Severe viral infection, Bronchiecta...	ORPHA:79128
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Hepat...	ORPHA:227990
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Ce...	OMIM:213200
Myopathy, Myofibrillar, 8	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:617258
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski...	OMIM:600363
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Large for gestational age, Pallor, Diffuse pancreatic islet hyperplasia, Hypertroph...	ORPHA:276580
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio...	ORPHA:90291
Cronkhite-Canada Syndrome	Hepatomegaly, Generalized hyperpigmentation, Splenomegaly, Abnormality of skin pigmentation, Anemia	ORPHA:2930
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut...	ORPHA:227982
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Becker Muscular Dystrophy	Exercise intolerance, Skeletal muscle atrophy, Fatigue, Elevated circulating creatine kinase conc...	ORPHA:98895
Adenohypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95512
Idiopathic Pulmonary Arterial Hypertension	Chronic hemolytic anemia, Right ventricular hypertrophy	ORPHA:275766
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Mediastinal lymphaden...	ORPHA:3452
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Pallor, Large for gestational age	ORPHA:324575
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Recurrent infec...	OMIM:605309
Aicardi-Goutières Syndrome	Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Acrocyanosis, Extrapyramidal muscular ...	ORPHA:51
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Recurrent infections, Decreased s...	ORPHA:541423
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Large for gestational age	OMIM:618272
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Telangiectasia, Hereditary Hemorrhagic, Type 2	Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat...	OMIM:615838
Bohring-Opitz Syndrome	Short stature, Cardiomegaly, Abnormal cardiac septum morphology, Severe failure to thrive, Intrau...	ORPHA:97297
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p...	OMIM:193510
Sandhoff Disease	Hepatomegaly, Exaggerated startle response, Reduced beta-hexosaminidase activity, Ataxia, Cardiom...	OMIM:268800
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Recurrent...	OMIM:260920
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalit...	ORPHA:391487
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysm...	OMIM:617145
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis...	ORPHA:330015
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General...	ORPHA:324604
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease...	ORPHA:95409
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Recurrent...	OMIM:252500
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration	OMIM:620240
Xp21 Deletion Syndrome	Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ...	ORPHA:261476
Panhypophysitis	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:95513
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Obesity, Cholestas...	OMIM:615630
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus...	OMIM:607459
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra...	OMIM:255310
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic ...	ORPHA:469
Galactokinase Deficiency	Speech apraxia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ov...	ORPHA:79237
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte...	OMIM:216360
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a...	ORPHA:210122
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Hypereosinophilia, Atopic de...	ORPHA:2902
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Short stature, Anemic pallor, Thrombocytopenia, Cryptorc...	OMIM:227646
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cer...	OMIM:617710
Adrenomyodystrophy	Myopathy	ORPHA:977
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c	OMIM:618858
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Prolonged neonatal jaundice, Mottled pigmentation, Absent ossifi...	ORPHA:226313
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,...	OMIM:208920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyper...	OMIM:620358
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ...	OMIM:618093
Chanarin-Dorfman Syndrome	Myopathy	OMIM:275630
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apraxia, S...	OMIM:617810
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Abdominal pain	OMIM:613662
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Sev...	ORPHA:36238
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria,...	OMIM:614831
Bone Dysplasia, Lethal Holmgren Type	Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Anemia	ORPHA:1842
Cryoglobulinemic Vasculitis	Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Glomerulopathy, Cutis marmorata,...	ORPHA:91138
Adams-Oliver Syndrome 6	Cutis marmorata, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, ...	OMIM:616589
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem...	ORPHA:570422
Acrocallosal Syndrome	Postaxial hand polydactyly, Congenital diaphragmatic hernia, Triphalangeal thumb	ORPHA:36
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia	OMIM:615524
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Premature graying of hair, Anemia, Excessive wrinkled skin, Bone m...	ORPHA:3322
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Spasti...	ORPHA:79279
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra...	ORPHA:240103
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Satoyoshi Syndrome	Fatigue, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Gen...	OMIM:600705
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy, Hypoalb...	ORPHA:367
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Atrial situs ambiguous, Abnormal atrial arrangement, Asplenia...	ORPHA:244
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve...	ORPHA:2268
Carnitine Palmitoyltransferase Ii Deficiency	Exercise intolerance, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:157
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria	OMIM:252920
Acth Deficiency, Isolated	Jaundice, Cholestasis	OMIM:201400
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Diffuse cerebral atrophy, Cyanosis, Spasti...	ORPHA:391428
Pituitary Apoplexy	Decreased response to growth hormone stimulation test, Elevated circulating growth hormone concen...	ORPHA:95613
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:616479
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hepatomegaly, L...	ORPHA:3008
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Hypospadias,...	ORPHA:912
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Thrombocytopenia	OMIM:230900
Hypophosphatasia, Infantile	Death in infancy, Elevated plasma pyrophosphate, Hypercalcemia, Low alkaline phosphatase, Stillbi...	OMIM:241500
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration	OMIM:620326
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Long...	ORPHA:169186
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Recurrent candi...	OMIM:610163
Congenital Heart Block	Cyanosis, Pericardial effusion, Pallor, Endocardial fibroelastosis, Intrauterine growth retardati...	ORPHA:60041
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Cardiomega...	ORPHA:904
Autosomal Dominant Spastic Paraplegia Type 29	Abnormality of the lower urinary tract, Hyperbilirubinemia	ORPHA:101009
Typhoid	Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia	ORPHA:99745
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop...	OMIM:614520
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Talipes ...	ORPHA:98915
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hypocalcemia, Anemia	ORPHA:53
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Afibrinogenemia, Congenital	Death in infancy, Splenic rupture, Death in adolescence, Death in childhood, Neonatal death, Brui...	OMIM:202400
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Dilated cardiomyopathy, Osteoporosi...	OMIM:613989
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Growth delay, P...	ORPHA:667
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Psoriasiform dermatitis, Unilateral renal agenesis, Recurrent...	ORPHA:221139
Sheehan Syndrome	Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz...	ORPHA:91355
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia...	ORPHA:85443
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Eisenmenger Syndrome	Hepatomegaly, Brain abscess, Cyanosis, Ventricular septal defect, Elevated circulating C-reactive...	ORPHA:97214
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Postpoliomyelitis Syndrome	Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia, Pain	ORPHA:2942
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Cryptorchidism, Spastic tetraplegia, Abnormal heart morphology, Hypertonia, Aplasia...	ORPHA:96092
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Knee flexion contracture, Distal amyotrophy, Skeletal myopathy, Lower li...	ORPHA:3208
Malt Lymphoma	Mediastinal lymphadenopathy, Recurrent respiratory infections, Anemia, Lymphadenopathy	ORPHA:52417
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation	ORPHA:2222
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Anemia,...	OMIM:606966
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon...	ORPHA:314632
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Bruising susceptibilit...	OMIM:601399
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Leber Optic Atrophy	Myopathy	OMIM:535000
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Nephropathy, Absent ...	OMIM:301000
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Impaired vibration sensation in the lower limbs, Clumsiness, Cardiomyopathy, Abnormal circulating...	ORPHA:521411
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Situs inversus totalis, Biliary cirrhosis, Cholestasis, He...	OMIM:267010
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Elevated circulating creatin...	OMIM:266900
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, An...	OMIM:615710
4H Leukodystrophy	Cerebellar atrophy, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:289494
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, ...	OMIM:614867
Genetic Recurrent Myoglobinuria	Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy...	ORPHA:99845
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu...	ORPHA:98827
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Glycogen Storage Disease Ii	Recurrent respiratory infections, Hepatomegaly, Increased circulating NT-proBNP concentration, Ur...	OMIM:232300
Danon Disease	Myocardial necrosis, Exercise intolerance, Elevated circulating creatine kinase concentration, Lo...	OMIM:300257
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Night sweats, Intrinsic hand muscle atrophy, Clubbing...	OMIM:619574
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Hepatomegaly	OMIM:248500
Alagille Syndrome 1	Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Renal hypoplas...	OMIM:118450
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia, Obesity, Cardiomegaly	ORPHA:88643
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M...	OMIM:137940
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating branched chain amino ac...	ORPHA:2394
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ...	OMIM:612260
Bachmann-Bupp Syndrome	Hyperbilirubinemia, Large for gestational age	OMIM:619075
Telangiectasia, Hereditary Hemorrhagic, Type 1	Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:187300
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Ataxia, Dysmetria	OMIM:617917
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly	OMIM:614096
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Cyanosis, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi...	ORPHA:263297
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Elevated circulating creatine kinase concentration, ...	OMIM:615368
Immunodeficiency 9	Myopathy	OMIM:612782
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Truncal obesity, Failure to thrive, Small for gestational age, Neonatal hyperbilirubinemia	ORPHA:73272
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Sepsis, Recur...	ORPHA:764
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Anemia	OMIM:617244
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Decreased response to growth hormo...	ORPHA:273
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Cerebellar atrophy, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Elevated circulatin...	ORPHA:529665
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi...	ORPHA:1170
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc, Osteoporosis	OMIM:601979
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short stature, Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Jaundi...	OMIM:613038
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Bradykine...	OMIM:617435
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Ataxia-Telangiectasia	Conjunctival telangiectasia, Dystonia, Female hypogonadism, Ataxia, Elevated circulating alpha-fe...	OMIM:208900
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Pallor	OMIM:500007
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Proteinuria, Mitral valve calcifica...	ORPHA:77261
Bazex Syndrome	Anemia	ORPHA:166113
Nephronophthisis 1	Polyuria, Stage 5 chronic kidney disease, Hyposthenuria, Renal corticomedullary cysts, Nephronoph...	OMIM:256100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	EMG: myopathic abnormalities, Overlapping toe	ORPHA:457365
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concen...	OMIM:619405
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Reticulated skin pigmentation, Bone marrow hypocellularity, Cirrhosis, Testicular a...	OMIM:613987
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Abnormality of skin pi...	ORPHA:355
Autosomal Dominant Progressive External Ophthalmoplegia	Fatigue, Exercise intolerance, Facial palsy, Elevated circulating creatine kinase concentration, ...	ORPHA:254892
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Spastic Paraplegia 29, Autosomal Dominant	Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia	OMIM:609727
Mitochondrial Trifunctional Protein Deficiency	Exercise intolerance, Rigors, Equinus calcaneus, Rhabdomyolysis, Skeletal myopathy, Myalgia, Hypo...	ORPHA:746
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Splenomegaly, Spastic tetraplegia, Cerebral atrophy, Decreased beta-galacto...	OMIM:230600
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Myopathy, Shoulder girdle muscle weakness, Abnormal circulating creatine ki...	ORPHA:98907
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, El...	ORPHA:263455
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Dengue Fever	Hepatomegaly, Thrombocytopenia, Bruising susceptibility, Leukopenia, Ascites, Hypoproteinemia, Pe...	ORPHA:99828
Pneumocystosis	Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Acute infectious pneumo...	ORPHA:723
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Le...	OMIM:616271
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m...	ORPHA:137898
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Polysplenia, Atri...	ORPHA:1335
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Increased circulating lactate dehydrogenase c...	ORPHA:319213
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Clonus, Athetosis, Hyperalaninemia	OMIM:266150
Spinocerebellar Ataxia 42	Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm...	OMIM:616795
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Ataxia, Elevated circulating cre...	ORPHA:79322
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Spastic paraplegia, Tetraplegia...	ORPHA:254913
Sanjad-Sakati Syndrome	Small hand, Short foot, Myopathy, Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis...	ORPHA:188
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Optic Atrophy 11	Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements, Cerebellar hypo...	OMIM:617302
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Hyperparathyroidism, Transient Neonatal	Elevated circulating alkaline phosphatase concentration, Enlarged kidney, Unilateral renal agenes...	OMIM:618188
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyol...	OMIM:157640
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythe...	ORPHA:99812
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Splenomegaly, Hypercalciu...	OMIM:618440
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro...	ORPHA:90673
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
African Trypanosomiasis	Tremor, Impaired proprioception, Choreoathetosis, Hepatomegaly, Abnormal central motor function, ...	ORPHA:3385
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Tremor, Leukocytosis, Distal sensory impairment, Choreoathetosis, Po...	ORPHA:206594
Gitelman Syndrome	Neoplasm of the pancreas, Paralysis, Pericardial effusion, Hypermagnesemia, Iron deficiency anemi...	ORPHA:358
Porphyria Variegata	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi...	ORPHA:79473
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of ...	ORPHA:96097
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac sept...	OMIM:608776
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Congenital diaphragmatic hernia	OMIM:300887
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619064
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Elevated circulating creatine k...	OMIM:617013
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypopl...	ORPHA:1454
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia	OMIM:617836
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ...	ORPHA:90062
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Ataxia, Reticulated skin pigmentation, Cryptorchidism, Osteoporosi...	OMIM:613990
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of...	ORPHA:1358
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia	ORPHA:1166
Weismann-Netter Syndrome	Anemia	ORPHA:3344
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Pallor, Poor wound healing	ORPHA:536516
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Weakness of facial musculature, Flexion contracture, Myopathy	OMIM:201470
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Alpha-N-Acetylgalactosaminidase Deficiency	Clonus, Cardiomegaly, Tetraplegia, Cerebellar hypoplasia, Spasticity, Vascular skin abnormality, ...	ORPHA:3137
Distal Xq28 Microduplication Syndrome	Recurrent upper respiratory tract infections, Patent foramen ovale, Neonatal hyperbilirubinemia	ORPHA:293939
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Dystonia, Albinism, Splenomegaly, Ocular albinism, Cerebral atrophy, Neutropenia	OMIM:617050
Toxic Epidermal Necrolysis	Acute hepatic failure, Recurrent respiratory infections, Renal insufficiency, Elevated hepatic tr...	ORPHA:537
Idiopathic Camptocormia	Myositis, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscl...	ORPHA:1320
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Death in child...	OMIM:220110
Juvenile Sialidosis Type 2	Hepatomegaly, Lower limb spasticity, Ataxia, Dysmetria, Abnormal heart morphology, Hepatosplenome...	ORPHA:93399
Addison Disease	Hypoparathyroidism, Normocytic anemia, Hyponatremia, Primary testicular failure, Premature ovaria...	ORPHA:85138
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati...	OMIM:232240
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Corticobasal Syndrome	Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo...	ORPHA:454887
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus...	OMIM:618280
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Neonatal sepsis, Pneumonia, Jaundice, Hyperkalemia, Failure to thrive	ORPHA:90790
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A...	ORPHA:935
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys...	OMIM:619738
Nabais Sa-De Vries Syndrome, Type 1	Vesicoureteral reflux, Prolonged neonatal jaundice	OMIM:618828
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infectio...	ORPHA:51890
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Facial erythema, Hypocalcemia, Chronic otitis media, Micropenis, Pelvic kidney, He...	OMIM:619503
Congenital Myopathy 22A, Classic	Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ...	OMIM:620351
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag...	ORPHA:1520
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Increased muscle glycogen content, Myalgia, Incre...	ORPHA:502423
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphocytes, Dilated card...	OMIM:230500
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, ...	OMIM:301072
Lassa Fever	Sepsis, Conjunctivitis, Oliguria, Jaundice	ORPHA:99824
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign...	OMIM:607694
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Aminoacidu...	OMIM:214100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Malignant Hyperthermia Of Anesthesia	Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Abnormality of masseter muscle, Hyperkalem...	ORPHA:423
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea...	OMIM:614921
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Babinski sign, Limb ataxia, Gait ataxia, C...	OMIM:619259
Polymyositis	Fatigue, Elevated circulating creatine kinase concentration, Abdominal pain, Abnormal muscle fibe...	ORPHA:732
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Decreased circulating antib...	ORPHA:79330
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia	OMIM:616604
Recessive Dystrophic Epidermolysis Bullosa Inversa	Fragile skin, Anemia	ORPHA:79409
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Clonus, Tre...	OMIM:619424
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Knee flexion contracture, Calf muscle hypertr...	OMIM:618733
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Fucosidosis	Hepatomegaly, Short stature, Angiokeratoma, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, B...	OMIM:230000
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract...	OMIM:252900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Tay-Sachs Disease	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Exaggerated startle re...	ORPHA:845
Saccharopinuria	Tremor, Hypercystinemia, Spastic diplegia, Hyperammonemia, Gait ataxia, Distal sensory impairment...	ORPHA:3124
Incontinentia Pigmenti	Short stature, Eosinophilia, Supernumerary nipple, Leukocytosis, Erythema, Breast aplasia, Hypopl...	OMIM:308300
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Recurrent infections, Anemia, Recurrent otitis media, Recurrent bronchitis	OMIM:620331
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Pigmentary retinopathy, Decr...	ORPHA:436271
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Myocardial fibrosis, Growth delay, Pericardial constri...	OMIM:253250
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Men...	ORPHA:83317
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena...	ORPHA:1655
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Hypoglycinemia, Hyposerinemia	ORPHA:79351
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Ataxia, Rickets, Osteoporosis, Mottled pigmentation of photoexposed areas, Pigmenta...	OMIM:560000
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Failure to thrive in infancy, Porta...	OMIM:613385
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Spastic...	OMIM:619170
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Bronchiectasis, Cholestasis, Mitral valv...	OMIM:620233
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Abnormal ci...	ORPHA:206572
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Fatigue, Hypercalcemia, Achilles tendon calcification, Hyperphosphatemia, Metacarpal periosteal t...	OMIM:617994
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th...	ORPHA:2869
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Micropenis, Hypocalcemic seizures	OMIM:241410
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Ascites, Intrauterine growth retar...	OMIM:614702
Congenital Factor Ii Deficiency	Anemia	ORPHA:325
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut...	OMIM:258360
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T...	ORPHA:90068
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Dilatation of renal calices, Polysplenia	OMIM:614294
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Mildly elevated creatine kinase, Proximal amyotrophy	OMIM:159400
Schisis Association	Congenital diaphragmatic hernia, Micromelia	ORPHA:63862
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci...	OMIM:617913
Snakebite Envenomation	Hyponatremia, Pain, Rhabdomyolysis, Muscle fiber necrosis	ORPHA:449285
3-Methylglutaconic Aciduria, Type Viii	Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Failure to thrive	OMIM:617248
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ...	ORPHA:847
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera...	OMIM:618022
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Iron deficiency anemia, Reduced bone mineral density	ORPHA:93315
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Osteoporosis, Abnormal pyramidal sign, Premat...	OMIM:612199
Non-Functioning Paraganglioma	Flushing, Pallor, Weight loss	ORPHA:94080
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Tapered finger, Elevated ci...	OMIM:254940
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morp...	ORPHA:3068
Metachromatic Leukodystrophy, Adult Form	Dystonia, Chorea, Babinski sign, Clumsiness, Progressive spastic quadriplegia, Progressive gait a...	ORPHA:309271
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Dysmetria, Progressive spasticity, Truncal ata...	OMIM:210000
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Card...	OMIM:105210
Sialidosis Type 1	Ataxia, Tremor, Splenomegaly, Slurred speech, Myoclonus, Vascular skin abnormality	ORPHA:812
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acroosteolysis of distal phalanges...	ORPHA:280365
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Cryptorchidism, Cerebellar hypoplasia, Spasticity	OMIM:613730
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Cerebral atro...	OMIM:620306
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Prolonged neonatal jaundice, Mottled pigmentation, Thy...	ORPHA:226316
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc...	OMIM:618060
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Atrophy/Degeneration affecti...	ORPHA:228360
Retinitis Pigmentosa 51	Pallor, Obesity	OMIM:613464
Johanson-Blizzard Syndrome	Death in infancy, Abnormality of the pancreas, Hypoproteinemia, Anemia, Exocrine pancreatic insuf...	ORPHA:2315
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Elevated circulating C-reactive protein concentration, Anemia	ORPHA:324964
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase...	OMIM:243800
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O...	ORPHA:31824
Aredyld Syndrome	Splenomegaly, Abnormality of the ureter, Cachexia, Hepatomegaly	ORPHA:1133
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ...	ORPHA:508
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort...	ORPHA:3099
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor...	ORPHA:860
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto...	ORPHA:99027
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm...	OMIM:253260
O'Sullivan-Mcleod Syndrome	Somatic sensory dysfunction, Eosinophilia, Tremor, Atrophy of the spinal cord, Fasciculations	ORPHA:99965
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Splenomegaly, Recurrent upper respiratory tract infec...	ORPHA:583
Pachydermoperiostosis	Hepatomegaly, Cerebral palsy, Elevated circulating growth hormone concentration, Impaired tempera...	ORPHA:2796
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas...	OMIM:612438
Isolated Thyroid-Stimulating Hormone Deficiency	Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice, Hypercholesterolemia, Fail...	ORPHA:90674
Stiff-Person Syndrome	Anemia	OMIM:184850
Sandifer Syndrome	Anemia	ORPHA:71272
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Dravet Syndrome	Cyanotic episode, Pallor	ORPHA:33069
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Atrial septal defect, Ventricular septal defect, A...	OMIM:147920
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Osteomyelitis, Hypospadias, Bicuspid aortic valve, Recurrent ear i...	OMIM:619475
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Diffuse cerebral atrophy, Cerebellar atrophy, Crypto...	ORPHA:263487
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans...	OMIM:300280
Slc39A8-Cdg	Osteopenia, Cerebellar atrophy, Abnormal blood zinc concentration, Craniosynostosis, Abnormality ...	ORPHA:468699
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Secundum atrial septal defect, Ascites, T...	OMIM:617397
Fabry Disease	Angiokeratoma, Elevated circulating globotriaosylceramide concentration, Angiokeratoma corporis d...	OMIM:301500
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D...	OMIM:620040
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia, Spastic gait	ORPHA:261584
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity	OMIM:616494
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Severe Hemophilia A	Poor wound healing, Bruising susceptibility, Anemia	ORPHA:169802
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia, Cardiomyopathy	ORPHA:35
Acquired Generalized Lipodystrophy	Myopathy, Calf muscle pseudohypertrophy, Abnormal circulating lipid concentration, Hypertriglycer...	ORPHA:79086
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Growth delay, ...	ORPHA:99832
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc...	ORPHA:1855
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Cerebellar atrophy, Elevated circulating creatine kinase concentrati...	OMIM:606002
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Erythema, Numerous pigmented freckles, Brain atrophy, Freckling, Cutaneous photos...	OMIM:278760
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational...	ORPHA:2255
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly, Erythema, Hypopigmented skin patches, Hyperostosis	ORPHA:53715
Xp22.13P22.2 Duplication Syndrome	Small hand, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger	ORPHA:284180
Combined Oxidative Phosphorylation Deficiency 11	Myopathy	OMIM:614922
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,...	ORPHA:677
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Cerebral atrophy, Spasticity	OMIM:272200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Hyperammonemia, Truncal ataxia, Hyperalaninem...	OMIM:619051
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysme...	OMIM:614381
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract...	OMIM:252930
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Dilated fourth ventric...	ORPHA:572798
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s...	ORPHA:96
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Red...	OMIM:269700
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Elevated circulating creatine kinase concentration, Tremor, Decreased fertility, Fasciculations, ...	OMIM:313200
Congenital Myopathy 17	Overlapping fingers, Overlapping toe, Tapered finger, Myopathy, Distal arthrogryposis, Hand clenc...	OMIM:618975
Congenital Sialidosis Type 2	Hepatomegaly, Ataxia, Dysmetria, Telangiectasia, Hepatosplenomegaly, Abnormal heart morphology, M...	ORPHA:93400
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Spastic tetraplegia, Cardiomegaly	OMIM:300886
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Arthralgia, Muscle fiber splitting	OMIM:606408
Tonne-Kalscheuer Syndrome	Broad thumb, Congenital diaphragmatic hernia, Brachydactyly	OMIM:300978
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis	OMIM:610455
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, Cr...	OMIM:615381
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Bile duct proliferation, Hepatic ...	OMIM:610688
Dyskeratosis Congenita	Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Telangiectasia of the s...	ORPHA:1775
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Impaired vibratory sensation, Clonus...	ORPHA:415
Cardiomyopathy, Familial Hypertrophic, 4	Myopathy, Chest pain, Sudden cardiac death	OMIM:115197
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Fanconi Anemia, Complementation Group P	Pancytopenia, Anemia	OMIM:613951
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Ataxia, Peritonitis, Erythema, Lymphadenopathy, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu...	ORPHA:64
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Distal amy...	OMIM:164310
Localized Scleroderma	Skeletal muscle atrophy, Flexion contracture, Myopathy, Arthralgia, Sclerosis of finger phalanx	ORPHA:90289
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia	ORPHA:2143
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia	ORPHA:370079
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Aplasia of the thymus, Unconjugated hyperbilirubinemia, Prolong...	OMIM:620186
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Fragile skin, Anemia	OMIM:226600
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Increas...	OMIM:117550
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Reduced bone mineral density, Hypotriglyceridemia, Hepa...	ORPHA:404454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Cerebellar atrophy...	OMIM:615356
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Hypopigmentation of hair, Ataxia, Splenomegaly, Abnormal pyramidal sign, Hypopigmen...	ORPHA:163746
Argininemia	Cerebellar atrophy, Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Progressiv...	OMIM:207800
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper...	ORPHA:2969
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic tetr...	ORPHA:349
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Cerebral atrophy, Gait ataxia, Choreoa...	OMIM:618877
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Hypercholesterolemia, Bone cyst,...	ORPHA:528
12Q14 Microdeletion Syndrome	Tremor, Abnormality of the spleen, Osteopoikilosis, Chiari malformation, Hyperpigmentation of the...	ORPHA:94063
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Hepatitis, Hypop...	ORPHA:436252
Meckel Syndrome, Type 3	Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation, Hepatic fibrosis...	OMIM:607361
Scheie Syndrome	Spastic paraparesis, Splenomegaly, Cerebral palsy, Hepatomegaly	ORPHA:93474
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Short th...	ORPHA:1120
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Osteoporosis, Reticular hyperpigmen...	OMIM:224230
Cooper-Jabs Syndrome	Proximal placement of thumb, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect, Invol...	ORPHA:438213
Hurler-Scheie Syndrome	Recurrent respiratory infections, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:607015
Gillessen-Kaesbach-Nishimura Syndrome	Metaphyseal widening, Flexion contracture, Congenital diaphragmatic hernia, Ulnar deviation of th...	OMIM:263210
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, B lymphocytopenia,...	OMIM:301081
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia	OMIM:619699
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit...	OMIM:261515
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Death in infancy, Pancreatic hypoplasia, Anemia, Pancreatic ...	OMIM:609069
Refsum Disease, Classic	Decreased phytanoyl-CoA hydroxylase activity, Somatic sensory dysfunction, Ataxia, Cardiomegaly, ...	OMIM:266500
Attrv30M Amyloidosis	Cardiomyopathy, Weight loss, Cardiomegaly	ORPHA:85447
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal...	ORPHA:94065
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Small hand, Elbow flexion contracture, Knee flexion contracture,...	ORPHA:371364
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Cerebellar atrophy, Hyperalaninemia, Spasticity, Bile duct prolife...	OMIM:618329
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Elevate...	OMIM:612953
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hepatoblastoma, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortic...	OMIM:130650
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Heparan sulfa...	OMIM:309900
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
Pericardial And Diaphragmatic Defect	Chest pain, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia	ORPHA:2847
Ectodermal Dysplasia-Syndactyly Syndrome 2	Ectodermal dysplasia, Cardiomegaly	OMIM:613576
13Q12.3 Microdeletion Syndrome	Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Low plasma c...	OMIM:261680
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Brain a...	OMIM:620327
Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Cerebellar hypoplasia, Hypocalcemi...	OMIM:300712
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormal cerebellum morphology...	OMIM:618652
Gastrointestinal Stromal Tumor	Abnormality of the liver, Anemia	ORPHA:44890
Trisomy 8P	Abnormal atrioventricular connection, Cryptorchidism, Abnormal left ventricle morphology, Aplasia...	ORPHA:264450
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Spasticity, Hypertonia, Cirrhosis, Brain atrophy,...	OMIM:616539
Hennekam Syndrome	Recurrent respiratory infections, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary l...	ORPHA:2136
Opsismodysplasia	Splenomegaly, Hepatomegaly, Recurrent respiratory infections	ORPHA:2746
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Bone marrow hypocellularity, Anemia	OMIM:131300
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sin...	OMIM:251260
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard...	OMIM:615190
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Tetr...	OMIM:210710
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cyanosis, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous ...	ORPHA:555874
Thyroid Hypoplasia	Jaundice, Thyroid hypoplasia	ORPHA:95720
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Dry skin, Lymphadenopat...	OMIM:617827
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Congenital diaphragmatic hernia	ORPHA:2063
Fanconi Anemia	Reduced bone mineral density, Abnormality of skin pigmentation, Leukopenia, Abnormality of the li...	ORPHA:84
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Type 1 muscle fiber predominance	OMIM:614557
Adrenomyeloneuropathy	Atrophy/Degeneration involving the corticospinal tracts, Abnormal circulating fatty-acid concentr...	ORPHA:139399
Glycerol Kinase Deficiency	Myopathy, Hypertriglyceridemia, Muscular dystrophy, Hyperglycerolemia	OMIM:307030
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis,...	ORPHA:342
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Elevated hepatic transaminase...	ORPHA:586
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Splenomegaly, Hepatitis, Mucopolysacchariduria, Ascites	ORPHA:584
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc...	OMIM:618500
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula...	OMIM:261740
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia	ORPHA:95706
Neurooculorenal Syndrome	Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Conjugated hyperbilirubinemia...	OMIM:620305
Camurati-Engelmann Disease	Hepatomegaly, Ataxia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Craniofacial o...	ORPHA:1328
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Tapered finger, Myopathy, Arthrogryposis multiplex congenita, Slender finger	ORPHA:2953
Schwartz-Jampel Syndrome	Hip contracture, Bowing of the long bones, Skeletal muscle atrophy, Shoulder flexion contracture,...	ORPHA:800
Tick-Borne Encephalitis	Elevated hepatic transaminase, Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnor...	ORPHA:297
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:308552
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:913
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Elevated hepatic transaminase, Severe B lympho...	OMIM:620005
Lymphatic Malformation 7	Ascites, Anemia	OMIM:617300
Usher Syndrome	Myopathy	ORPHA:886
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, EMG: myopathic abnormalities, Triphal...	ORPHA:2549
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Double outlet left ventricle, Failure to thrive, Ventricular septal defect, P...	OMIM:600001
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase c...	ORPHA:2088
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Congenital diaphragmatic hernia	ORPHA:250999
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:98914
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:590
Glutaric Acidemia I	Hepatomegaly, Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia, Reduced peroxi...	OMIM:231670
Melas	Exercise intolerance, Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:550
Doors Syndrome	Thrombocytosis	ORPHA:79500
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu...	OMIM:300894
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Zaki Syndrome	Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Ectrodactyly, Broad distal phalanx...	OMIM:619648
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val...	ORPHA:363705
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Hepatomegaly, Ataxia, Cardiomegaly, Hypoplasia of the pons, Cryptorchidism, L...	OMIM:618143
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Ventricular septal defect, Cryptorchidism, Multiple lentigines, Pulmonic stenosis,...	OMIM:607721
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Small for gestational age, Short stature, Cardiomegaly	OMIM:613320
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Renal hypoplasia, Abdominal obesity, Azotemia, Micropenis, Hepatic steatosis	OMIM:619321
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Rat-Bite Fever	Abdominal aseptic abscess, Lymphadenitis, Sepsis, Pancreatitis, Anemia	ORPHA:31205
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Primary amenorrhea, Dysmetria...	OMIM:617675
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Pallor, Flushing	ORPHA:276621
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Dilated cardiomyopathy, Left ventricular noncompaction, Myoclonus, Dystonia...	OMIM:619167
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, 2-3 finger syndactyly, Clubbing of toes, S...	ORPHA:2437
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrea...	ORPHA:226307
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Decreased circulating copper concentra...	ORPHA:139417
Hurler Syndrome	Hepatomegaly, Cerebral palsy, Abnormal heart valve morphology, Abnormality of the tonsils, Spleno...	ORPHA:93473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Elevated circula...	OMIM:613154
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis...	OMIM:614924
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Intrauterine...	OMIM:617022
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
Chromomycosis	Keratitis, Vascular skin abnormality, Recurrent bacterial infections, Keratoconjunctivitis sicca,...	ORPHA:182
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Ventricular septal defect, Cardiomegaly, Intrauterine growth retardati...	OMIM:616897
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Pancytopenia, Bone marrow hypocellularity	OMIM:613988
Leigh Syndrome	Hyperalaninemia, Myopathy, Multiple joint contractures, Skeletal muscle atrophy	ORPHA:506
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hepatomegaly, Cerebellar atrophy, Prematurely aged appearanc...	OMIM:216400
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sen...	OMIM:616586
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Obesity, Enuresis nocturna,...	OMIM:615873
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myocl...	OMIM:137440
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Urticaria, Recurrent bacterial infections, Failure to thrive, Aplasia...	ORPHA:2176
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Irregular menstruation, Hepatic steatosis, Increased C-peptid...	OMIM:615238
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Cryptorchidism, Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly	OMIM:619005
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi...	ORPHA:79102
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Tor...	OMIM:128100
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Osteopenia, Cryptorchidism, Jaundice, Hypogonadism, Cerebellar hyp...	OMIM:614231
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of...	ORPHA:1647
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration	OMIM:175780
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op...	ORPHA:90340
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Reduced C-peptide level, Decreased circulating lipoprotein lipase concentrati...	ORPHA:556955
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Red...	OMIM:608594
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Myositis, Pericarditis, ...	ORPHA:3310
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Small hand,...	ORPHA:1001
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ...	OMIM:239850
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Pallor, Fail...	ORPHA:137675
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia	ORPHA:93325
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Myopathy, Broad thumb	ORPHA:109
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Hypospadias, Ventricular septal defect, Splenomegaly, Renal c...	OMIM:312870
Mucopolysaccharidosis Type 3	Hepatomegaly, Craniofacial hyperostosis, Vocal cord paresis, Ataxia, Adenoiditis, Cardiomegaly, S...	ORPHA:581
Stromme Syndrome	Myopathy, Preaxial polydactyly	OMIM:243605
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Congenital diaphragmatic hernia, Brachydactyly	ORPHA:2075
Darier Disease	Abnormality of skin pigmentation, Hypermelanotic macule	ORPHA:218
Mosaic Trisomy 1	Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Congenital diaphragmatic...	ORPHA:1692
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Menkes Disease	Hypopigmentation of hair, Chorea, Osteoporosis, Spontaneous hematomas, Hypertonia, Prolonged neon...	ORPHA:565
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation, Hyponatremia, Cyanosis, Hyperkalemia	OMIM:240200
Craniorachischisis	Congenital diaphragmatic hernia, Sirenomelia	ORPHA:63260
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Cerebellar hypoplasia, Ataxia, Bone marrow hypocellularity	OMIM:616353
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Cyanosis, Hypospadias, Splenomegaly, Lacticaciduria...	OMIM:252010
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches	ORPHA:626
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Hepatic steatosis	ORPHA:79085
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia	ORPHA:1915
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia...	ORPHA:261344
Alpha-Mannosidosis, Infantile Form	Facial hypotonia, Genu valgum, Macroglossia, Myopathy, Cortical thickening of long bone diaphyses...	ORPHA:309282
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Seborrheic dermatitis, Abnormality of the lymphatic system, Nephrobla...	ORPHA:276280
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Abdominal pain, Ragged-red muscle fibers, Elevat...	OMIM:603041
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Achilles tendon contracture, Talipes equinov...	ORPHA:363528
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia	OMIM:615919
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Prematurely aged appearance, Ataxia, Progeroid...	OMIM:133540
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Congenital diaphragmatic hernia, Split hand, Hypoplasi...	ORPHA:958
Trisomy 10P	Absent gallbladder, Small for gestational age, Abnormal heart morphology, Growth delay, Intrauter...	ORPHA:171929
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Hepatomegaly, Anhidrotic ectodermal dysplasia, Splenomegaly, Fa...	OMIM:612132
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Acute rhabdomyolysis, Elevated circulating creatine kinase concentration, Elevated circulating ac...	ORPHA:480864
Multiple Endocrine Neoplasia, Type Iib	Myopathy, Proximal femoral epiphysiolysis	OMIM:162300
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Elbow flexion contracture, Limb muscle weakness, Wrist drop, Talipes equin...	ORPHA:1900
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Pallor, Flushing	ORPHA:29072
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Recurrent Staphylococcus aureus infect...	ORPHA:642
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Reduced bone mineral density, Abnormality of skin pigmentati...	ORPHA:1979
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Hepatitis, Cholestasis, Rickets, Osteolysis, Br...	ORPHA:198
Tsh-Secreting Pituitary Adenoma	Osteopenia, Tremor, Male hypogonadism, Periodic hypokalemic paresis, Hypogonadotropic hypogonadis...	ORPHA:91347
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Talip...	ORPHA:168572
Citrullinemia, Classic	Hepatomegaly, Ataxia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis...	OMIM:215700
Chromosome 1Q41-Q42 Deletion Syndrome	3-4 finger cutaneous syndactyly, Sandal gap, Talipes equinovarus, Congenital diaphragmatic hernia	OMIM:612530
Behçet Disease	Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi...	ORPHA:117
Congenital Disorder Of Glycosylation, Type Iim	Vesicovaginal fistula, Recurrent infections, Atrial septal defect, Ureteropelvic junction obstruc...	OMIM:300896
Kallmann Syndrome	Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Breast hypoplasia, De...	ORPHA:478
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:2311
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hypouricemia, Rickets, Elevated circulating alkaline...	OMIM:616026
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Tremor, Abnormal cerebellum morphology, Oste...	ORPHA:86309
Esophageal Atresia	Cyanosis, Small for gestational age, Ventricular septal defect, Failure to thrive in infancy, Gro...	ORPHA:1199
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Complete atrioventricular canal defect, Absent gallbladder, Decreased calvarial ossification, Tet...	OMIM:617925
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Agenesis of cerebel...	OMIM:243910
Sotos Syndrome	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypercalcemia, Craniosynostosis, Tremor,...	ORPHA:821
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Spastic tetraplegia, Mitral valve prola...	ORPHA:324410
Emanuel Syndrome	Joint contracture, Torticollis, Congenital diaphragmatic hernia	OMIM:609029
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Craniosynostosis, Cerebellar hypoplasia, Atrial se...	OMIM:617140
Prolactinoma	Elevated circulating growth hormone concentration, Adrenocorticotropic hormone deficiency, Abnorm...	ORPHA:2965
Cutis Laxa, Autosomal Recessive, Type Ia	Arachnodactyly, Congenital diaphragmatic hernia	OMIM:219100
Seckel Syndrome 9	Talipes equinovarus, Congenital diaphragmatic hernia	OMIM:616777
Meckel Syndrome, Type 4	Agenesis of cerebellar vermis, Ventricular septal defect, Bile duct proliferation, Atrial septal ...	OMIM:611134
Matthew-Wood Syndrome	Congenital diaphragmatic hernia	ORPHA:2470
Donnai-Barrow Syndrome	Diaphragmatic eventration, Congenital diaphragmatic hernia	OMIM:222448
Cushing Disease	Increased urinary cortisol level, Plethora, Purpura, Acne, Dorsocervical fat pad, Poor wound heal...	ORPHA:96253
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia, Telangiectasia	OMIM:175050
Ctcf-Related Neurodevelopmental Disorder	Small for gestational age, Phimosis, Sepsis, Recurrent infections, Prolonged neonatal jaundice, A...	ORPHA:363611
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Multiple joint contractures, Arachnodactyly, Rocker bottom foot, Congenital diaphragm...	OMIM:265000
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation	OMIM:225050
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Failure to thrive, Pallor, Flushing	ORPHA:2131
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Congenital diaphragmatic hernia, Tapered finge...	ORPHA:251071
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Congenital diaphragmatic hernia, Camptodactyly, Clinodactyly of the 5...	OMIM:617602
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia	ORPHA:1834
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Tremor, D...	OMIM:610505
Glycogen Storage Disease Due To Acid Maltase Deficiency	Fatigue, Exercise intolerance, Facial hypotonia, Elevated circulating creatine kinase concentrati...	ORPHA:365
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Congenital diaphragmatic hernia, Broad d...	OMIM:245600
Wolfram Syndrome	Myopathy	ORPHA:3463
Japanese Encephalitis	Hyponatremia, Neutrophilia, Meningitis, Infectious encephalitis	ORPHA:79139
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia	ORPHA:2409
Steinfeld Syndrome	Absent gallbladder, Abnormal heart morphology	OMIM:184705
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Proximal 16P11.2 Microdeletion Syndrome	Hand polydactyly, Congenital diaphragmatic hernia	ORPHA:261197
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Cachexia, Cardiomegaly, Left atrial...	ORPHA:75565
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Complete Atrioventricular Septal Defect	Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septa...	ORPHA:1329
Halperin-Birk Syndrome	Flexion contracture, Talipes equinovarus, Congenital diaphragmatic hernia	OMIM:618651
Argininosuccinic Aciduria	Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami...	OMIM:207900
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Cardiomegaly, Subcortical cerebral atrophy, Abnormal thymus morphology, Abnormal bone...	ORPHA:2463
Incontinentia Pigmenti	Telangiectasia of the skin, Eosinophilia, Supernumerary nipple, Hemiplegia/hemiparesis, Erythema,...	ORPHA:464
Tay-Sachs Disease	Pallor	OMIM:272800
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Emanuel Syndrome	Multiple joint contractures, Congenital diaphragmatic hernia	ORPHA:96170
Truncus Arteriosus	Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal hear...	ORPHA:3384
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Telangiectasia of the skin, Erythema, Abnormality of skin pigmenta...	ORPHA:2135
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Arachnodactyly, Talipes equinovarus, Myopathy	ORPHA:536545
Cystic Fibrosis	Male infertility, Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, ...	OMIM:219700
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, El...	OMIM:619127
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia	OMIM:611812
Thyroid Ectopia	Jaundice, Ectopic thyroid	ORPHA:95712
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Congenital diaphr...	ORPHA:887
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Oligomeganephronia	Elevated circulating creatinine concentration, Congenital diaphragmatic hernia	ORPHA:2260
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormali...	ORPHA:2273
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Impotence, Neurodegeneration...	OMIM:146500
Isolated Right Ventricular Hypoplasia	Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ...	ORPHA:439
White-Sutton Syndrome	Facial hypotonia, Broad thumb, Congenital diaphragmatic hernia, Brachydactyly	OMIM:616364
Dubowitz Syndrome	Hypoparathyroidism, Cutis marmorata, Abnormality of neutrophils, Craniosynostosis, Cryptorchidism...	ORPHA:235
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primar...	ORPHA:653
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Diastasis recti, Congenital diaphragmatic hernia, Camptodactyl...	ORPHA:2092
Waardenburg Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature...	ORPHA:3440
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Ring Chromosome 13 Syndrome	Abnormality of skin pigmentation, Cafe-au-lait spot, Hypoplasia of the gallbladder	ORPHA:96176
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Congenital diaphragmatic hernia, Split hand, Hypoplasia o...	OMIM:200980
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia	ORPHA:1780
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular ca...	OMIM:620066
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia	OMIM:313850
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Sagittal craniosynostosis, Abnormal heart morphology, Chiari malformation, Ce...	ORPHA:500150
Dermatomyositis	Fatigue, Inflammatory myopathy, Arthralgia, Myalgia, Gangrene	ORPHA:221
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Cyanosis, Pneumonia, Anomalous pulmonary venous return, Right ventricula...	ORPHA:99104
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
Peters-Plus Syndrome	Ventricular septal defect, Bilobate gallbladder, Rhizomelia, Postnatal growth retardation, Crypto...	OMIM:261540
Wrinkly Skin Syndrome	Osteopenia, Cerebellar vermis hypoplasia, Cryptorchidism, Excessive skin wrinkling on dorsum of h...	ORPHA:2834
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, 3-...	OMIM:304110
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia,...	OMIM:300967
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Myopathy	ORPHA:3042
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Chorea, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardio...	ORPHA:268
Familial Aortic Dissection	Cutis marmorata, Cardiomegaly	ORPHA:229
Mycophenolate Mofetil Embryopathy	Foot polydactyly, Congenital diaphragmatic hernia, Short palm	ORPHA:268249
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Co...	OMIM:154400
Meckel Syndrome, Type 1	Accessory spleen, Dilated fourth ventricle, Malformation of the hepatic ductal plate, Asplenia, S...	OMIM:249000
Scorpion Envenomation	Acute pancreatitis, Hemifacial spasm, Ataxia, Elevated circulating aspartate aminotransferase con...	ORPHA:466677
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Intrauterine growth retardation, Fragile skin, Cardiomegaly	ORPHA:158687
Arterial Tortuosity Syndrome	Flexion contracture, Arachnodactyly, Congenital diaphragmatic hernia	OMIM:208050
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Mosaic Variegated Aneuploidy Syndrome	Atrial septal defect, Aplasia/Hypoplasia of the cerebellum, Osteolysis, Acute lymphoblastic leuke...	ORPHA:1052
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Preaxial polydactyly, Congenital diaphragmatic hernia, Micromelia	OMIM:616546
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cyanosis, Cardiomegal...	ORPHA:3427
Fryns Syndrome	Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Short distal phalanx of finger	ORPHA:2059
Congenital Tracheomalacia	Failure to thrive, Cyanosis, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary...	ORPHA:95430
Meckel Syndrome, Type 2	Bile duct proliferation, Dandy-Walker malformation	OMIM:603194
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia	ORPHA:468678
Microphthalmia, Syndromic 9	Diaphragmatic eventration, Congenital diaphragmatic hernia	OMIM:601186
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Short distal phalanx of finger	OMIM:614080
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia	OMIM:267000
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h...	ORPHA:744
Atrial Septal Defect, Ostium Secundum Type	Cyanosis, Pneumonia, Right ventricular dilatation, Recurrent bacterial infections, Abnormal mitra...	ORPHA:99103
Plague	Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Sepsis, Ente...	ORPHA:707
Cornelia De Lange Syndrome 1	Micromelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Hypoplasia of the radiu...	OMIM:122470
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Congenital diaph...	ORPHA:2911
1P36 Deletion Syndrome	Camptodactyly of finger, Short foot, Myopathy, Foot polydactyly, Clinodactyly of the 5th finger, ...	ORPHA:1606
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Developmental Delay With Or Without Dysmorphic Facies And Autism	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, Short foot, Congenital diaphragmati...	OMIM:618454
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla...	ORPHA:733
Trisomy 18	Deviation of finger, Postaxial hand polydactyly, Camptodactyly of finger, Congenital diaphragmati...	ORPHA:3380
Aymé-Gripp Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Radioulnar synostosis, Campt...	ORPHA:1272
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Cryptorchidi...	ORPHA:96191
Cantú Syndrome	Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Osteoporosis, Cardiomegaly	ORPHA:1517
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Iniencephaly	Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo...	ORPHA:63259
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Congenital diaphragmatic hernia, Proximal placement of thumb, Post...	ORPHA:818
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, Congenital diaphrag...	ORPHA:373
Limb Body Wall Complex	Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasi...	ORPHA:2369
Pagod Syndrome	Sudden cardiac death, Congenital diaphragmatic hernia	ORPHA:991
Holoprosencephaly	Hyponatremia, Hand polydactyly, Congenital diaphragmatic hernia, Brachydactyly	ORPHA:2162
Distal Deletion 15Q	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Small hand, Genu valgum, Finger cl...	ORPHA:1596
Meacham Syndrome	Congenital diaphragmatic hernia	ORPHA:3097
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly, Facial palsy, Congenital diaphragmatic hernia	OMIM:301022
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, 1-2 toe syndactyly, Congenital diaphragmatic hernia, Tapered finger, Small hand, Sh...	OMIM:301044
Absence Of The Pulmonary Artery	Cyanosis, Cardiomegaly, Abnormal heart morphology, Growth delay, Abnormal cardiac septum morpholo...	ORPHA:980
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li...	OMIM:236680
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Aortic valve calcification, Reduced ...	ORPHA:56
7Q11.23 Microduplication Syndrome	Long fingers, Congenital diaphragmatic hernia	ORPHA:96121
Monosomy 9P	Abnormality of the tarsal bones, Postaxial hand polydactyly, Proximal placement of thumb, Congeni...	ORPHA:261112
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia	OMIM:309801
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia	OMIM:618846
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Kabuki Syndrome	Short middle phalanx of finger, Small hand, Short 5th finger, Congenital diaphragmatic hernia	ORPHA:2322
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Abnormality of skin pigme...	ORPHA:538
Wolf-Hirschhorn Syndrome	Arachnodactyly, Short hallux, Congenital diaphragmatic hernia, Preaxial hand polydactyly, Short t...	ORPHA:280
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Short stature, Cardiomegaly, Postnatal growth ret...	ORPHA:3472
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia	ORPHA:2745
Kindler Epidermolysis Bullosa	Abnormality of skin pigmentation, Erythema, Cutaneous photosensitivity, Anemia	ORPHA:2908
C Syndrome	Toe syndactyly, Congenital diaphragmatic hernia, Micromelia, Aplasia/Hypoplasia of the abdominal ...	ORPHA:1308
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bruising susceptibility, Bicuspid aortic valve, Cutis marmorata, Cardiomegaly	ORPHA:91387
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia	OMIM:617641
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Congenital diaphragmatic hernia	OMIM:614437
Focal Dermal Hypoplasia	Short metacarpal, Toe syndactyly, Diastasis recti, Congenital diaphragmatic hernia, Postaxial han...	OMIM:305600
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia	OMIM:273395
Witteveen-Kolk Syndrome	Fatigue, Toe syndactyly, Overlapping toe, Arachnodactyly, Congenital diaphragmatic hernia, Proxim...	OMIM:613406
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ...	ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Congenital diaphragmatic hernia, Short foot, Carpal synostosis, Brachydactyly	OMIM:157800
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cyanosis, Elevated alkaline phosphatase of bone origin, Osteomalacia, Ca...	ORPHA:51608
Coffin-Siris Syndrome 1	Sandal gap, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the distal phalanges of the to...	OMIM:135900
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Congenital diaphragmatic hernia, Proxima...	ORPHA:199
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia	ORPHA:2556
Singleton-Merten Syndrome 1	Mitral valve calcification, Short stature, Cardiomegaly, Aortic valve calcification, Cutaneous ph...	OMIM:182250
Pallister-Killian Syndrome	Rhizomelia, Congenital diaphragmatic hernia, Mesomelic/rhizomelic limb shortening, Postaxial hand...	OMIM:601803

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 Ank1

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 Ank1.

No publications found that use IMPC mice or data for Ank1.

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MGI Allele	Allele Type	Produced
Ank1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ank1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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