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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 (2459 diseases)

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

Disease	Matching phenotypes	Source
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
8P11.2 Deletion Syndrome	Growth delay, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Spherocytosis, Atrial septal d...	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	Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r...	ORPHA:766
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate...	OMIM:615234
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:185020
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Myopathy, Distal, 5	Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase, Myopathy, Weakness of facial...	OMIM:617030
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	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
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Inclusion Body Myositis	Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa...	ORPHA:611
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Eleva...	OMIM:609115
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Nemaline Myopathy 6	Nemaline bodies, Exercise intolerance, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, E...	OMIM:609273
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Distal Myopathy, Welander Type	Rimmed vacuoles, Mildly elevated creatine kinase, Distal upper limb amyotrophy, Foot dorsiflexor ...	ORPHA:603
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Nonaka Myopathy	Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Elevated cir...	OMIM:605820
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy...	ORPHA:71275
Polyglucosan Body Myopathy 2	Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe...	OMIM:616199
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia, Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Carnitine Deficiency, Myopathic	Decreased circulating carnitine concentration, Reduced muscle carnitine level, Myopathy	OMIM:212160
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Myopathy, Distal, With Rimmed Vacuoles	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ...	OMIM:617158
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Elevated circulating creatine kinase concentration	OMIM:609500
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,...	ORPHA:75563
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Recurrent bacterial infecti...	OMIM:202700
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Abnormal erythrocyte morphology, Con...	ORPHA:288
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting, Eleva...	OMIM:609524
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Myopathy, Vacuolar, With Casq1 Aggregates	Myalgia, Muscle fiber calsequestrin 1-containing inclusion bodies, Elevated circulating creatine ...	OMIM:616231
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Splenomegaly, Reduced haptoglobin l...	OMIM:210250
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Tuftsin Deficiency	Abnormality of the spleen, Recurrent infections	OMIM:191150
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Erythroi...	OMIM:266200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-...	OMIM:615424
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Increased circulating ferritin concent...	OMIM:601775
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia	ORPHA:46532
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Abetalipoproteinemia	Acanthocytosis, Abetalipoproteinemia	OMIM:200100
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Hereditary Myopathy With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m...	ORPHA:178464
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	ORPHA:609
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ...	ORPHA:86841
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant	Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am...	OMIM:158600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoies...	ORPHA:231222
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Mitochondrial Myopathy With Diabetes	Exercise intolerance, Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red musc...	OMIM:500002
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg...	OMIM:618129
Inclusion Body Myositis	Rimmed vacuoles, Inflammatory myopathy	OMIM:147421
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Welander Distal Myopathy	Rimmed vacuoles, Distal amyotrophy, Mildly elevated creatine kinase	OMIM:604454
Myopathy, Distal, 4	Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ...	OMIM:614065
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Porphyria Cutanea Tarda	Portal inflammation, Poor wound healing, Hepatic steatosis, Decreased circulating hepcidin concen...	ORPHA:101330
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Microcytic anemia, Splenomegaly	OMIM:618852
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections	OMIM:242870
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hyp...	OMIM:603552
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 27A	Hypoalbuminemia, Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly,...	OMIM:209950
Oculopharyngeal Muscular Dystrophy	Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase concent...	ORPHA:270
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Glycogen Storage Disease Vii	Cholelithiasis, Increased muscle glycogen content, Increased circulating lactate dehydrogenase co...	OMIM:232800
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho...	ORPHA:480520
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:88635
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Congenital contracture, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Arthrogryposis mu...	OMIM:208100
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Abnormal T cell count, Recurrent respiratory infections, Abnormal...	OMIM:613495
Iron Overload, Susceptibility To	Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir...	OMIM:620121
Malaria	Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:673
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream...	OMIM:618655
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness in lower limbs...	ORPHA:1878
Bethlem Myopathy 1A	Ankle flexion contracture, Skeletal muscle atrophy, Camptodactyly of finger, Elbow flexion contra...	OMIM:158810
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Creatine Phosphokinase, Elevated Serum	Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Elevated circulating creatine kinas...	OMIM:123320
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg...	OMIM:194380
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Myopathy, Distal, Tateyama Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ...	OMIM:614321
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, EMG:...	OMIM:253601
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Neutrophilia, Elevated circulating C...	OMIM:619644
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial musculature, Fatigue...	OMIM:619477
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocyti...	OMIM:617780
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Increased proportion of gamma-delta ...	OMIM:617514
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
3-Methylglutaconic Aciduria, Type Viia	Anemia, 3-Methylglutaconic aciduria, Neutropenia, Anisopoikilocytosis	OMIM:619835
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Myopathy, Distal, With Anterior Tibial Onset	Myopathy, Elevated circulating creatine kinase concentration	OMIM:606768
Choreoacanthocytosis	Acanthocytosis, Elevated circulating creatine kinase concentration	OMIM:200150
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re...	OMIM:618848
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,...	OMIM:258900
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha granules, Retic...	OMIM:314050
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegal...	OMIM:614470
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abnormal pericardium mo...	ORPHA:67
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Exercise intole...	ORPHA:457050
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:618992
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, ...	OMIM:300752
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Splenomegaly, Hepatomegaly, Jaundice, Hyperkalemia, Conjugated ...	OMIM:608885
Developmental And Epileptic Encephalopathy 50	Oroticaciduria, Acanthocytosis, Hyperammonemia, Renal tubular acidosis, Schistocytosis, Anisopoik...	OMIM:616457
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Acute myeloid leukemia, N...	ORPHA:158057
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Elevated circulating C-react...	OMIM:604416
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Acanthocytosis, Hep...	ORPHA:71
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Exercise intolerance, Ragged-red muscle fibers, Elevated...	OMIM:616209
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Oculopharyngodistal Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:618940
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Microcytic anemia, Abnormal circulating porphyrin conce...	ORPHA:79278
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Myopathy, Tubular Aggregate, 1	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Eleva...	OMIM:160565
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:54057
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ...	OMIM:181400
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg...	ORPHA:2593
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Scapulohumeral muscular dystrophy, Myopathy, Elevated circulating creatine kinase concentration	OMIM:160570
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Reticuloc...	OMIM:611590
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Increased serum pyruvate, Ragged-red muscle fibers, Myopathy	OMIM:545000
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Redu...	OMIM:300842
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co...	OMIM:616471
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Transient neutropenia, Abnormal B cel...	OMIM:607676
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine...	OMIM:618805
Heme Oxygenase 1 Deficiency	Sepsis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Coombs-positive h...	OMIM:614034
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo...	ORPHA:266
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
Atransferrinemia	Hypochromic anemia, Abnormality of the liver, Atransferrinemia	OMIM:209300
Merrf	Ragged-red muscle fibers, Myopathy	ORPHA:551
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Recurrent phary...	ORPHA:108
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Recurrent u...	OMIM:617585
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Distal Myopathy With Anterior Tibial Onset	Finger flexor weakness, Abnormal circulating creatine kinase concentration, Intrinsic hand muscle...	ORPHA:178400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Fiber type grouping, Distal amyotrophy, Mildly elevated creatine kinase	OMIM:614369
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia...	OMIM:614946
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc...	OMIM:608358
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231214
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze...	OMIM:306400
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly,...	OMIM:606069
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:276435
Rhabdomyolysis, Susceptibility To, 1	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc...	OMIM:620235
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activi...	OMIM:230350
Congenital Atransferrinemia	Anemia, Recurrent infections, Abnormality of the pancreas	ORPHA:1195
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis	OMIM:247800
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Chronic Granulomatous Disease	Sepsis, Eczematoid dermatitis, Recurrent respiratory infections, Splenomegaly, Otitis media, Cuta...	ORPHA:379
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Klhl9-Related Early-Onset Distal Myopathy	Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Intrinsic hand mus...	ORPHA:399081
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Recurrent viral infections, Eczematoid dermatitis, Elevated haptoglobin level, I...	OMIM:620632
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Ab...	ORPHA:284
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly, Ataxia	ORPHA:2274
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Ragged-red muscle fibers	OMIM:609283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus...	OMIM:601954
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA lev...	OMIM:619281
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Upper limb muscle weakness, Lowe...	ORPHA:171442
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Protoporphyria, Erythropoietic, 1	Erythema, Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Hypermanganesemia With Dystonia 1	Polycythemia, Increased total iron binding capacity, Cirrhosis, Hypermanganesemia, Hepatomegaly, ...	OMIM:613280
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Failure to thrive,...	OMIM:230400
Fingerprint Body Myopathy	Myopathy	OMIM:305550
Batten-Turner Congenital Myopathy	Myopathy	OMIM:255300
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro...	ORPHA:488650
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,...	ORPHA:1667
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:254110
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Myalgia, Foot d...	OMIM:619216
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ...	ORPHA:34516
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy	OMIM:212130
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy...	OMIM:608423
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, I...	ORPHA:858
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Acetyl-Coa Carboxylase-Alpha Deficiency	Myopathy	OMIM:613933
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Recurrent infections,...	ORPHA:168577
Congenital Disorder Of Glycosylation, Type Iid	Myopathy, Decreased muscle mass, Elevated circulating creatine kinase concentration	OMIM:607091
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Failure to thrive, Recurrent respiratory infections, Hepatocellular necr...	OMIM:618278
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Muscular dystrophy, Shoulder girdle muscle weakness, Myalgia, Elevated circulating creatine kinas...	OMIM:611307
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level	ORPHA:32
Cystic Echinococcosis	Peritoneal abscess, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Abscess, Elevat...	ORPHA:400
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Hyperalaninemia, Skeletal muscle atrophy, Myopathy	ORPHA:2597
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Renal Fa...	ORPHA:53693
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Reduced hemoglobin A, ...	ORPHA:231226
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
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
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormal heart morpho...	ORPHA:79333
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa...	OMIM:619013
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, ...	OMIM:600334
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Decreased lecithin cho...	OMIM:245900
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe...	OMIM:616924
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypertriglyceridemia	ORPHA:366
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia, Elevated urinary quinolinic acid level, Lacticaciduria	OMIM:618811
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Zebra Body Myopathy	Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo...	ORPHA:97240
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, ...	OMIM:617872
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Immunodeficiency 84	Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia	OMIM:619437
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Parkinsonism, Cirrhosis, Hepatomegaly, Elevated ...	ORPHA:77259
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,...	OMIM:167320
Inclusion Body Myopathy And Brain White Matter Abnormalities	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:619733
Myopathy, Centronuclear, 4	Centrally nucleated skeletal muscle fibers, Exercise intolerance, Abnormal circulating creatine k...	OMIM:614807
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Reduced glutathione synthetase level, Glyoxalase deficiency	OMIM:231900
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Reduced bone mineral density	ORPHA:172
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo...	ORPHA:398063
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis	OMIM:619398
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Failure to thrive, Eczematoid dermatitis, Decreased FOXP3-expressing T cell count, Eos...	OMIM:304790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev...	OMIM:608807
Hjv Or Hamp-Related Hemochromatosis	Impotence, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Incre...	ORPHA:79230
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblast...	OMIM:229100
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Aceruloplasminemia	Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri...	OMIM:604290
Myopathy, Sarcoplasmic Body	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620286
Finnish Upper Limb-Onset Distal Myopathy	Rimmed vacuoles, Joint contracture of the hand, Mildly elevated creatine kinase, Intrinsic hand m...	ORPHA:399086
Myopathy, X-Linked, With Excessive Autophagy	Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus...	OMIM:310440
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Porphyria, Acute Hepatic	Hemolytic anemia, Failure to thrive	OMIM:612740
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thro...	OMIM:226300
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:2134
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ...	OMIM:613845
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty...	OMIM:616313
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs...	OMIM:608957
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Anisocytosis, La...	OMIM:604273
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea...	ORPHA:713
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Impair...	OMIM:617006
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cut...	OMIM:613953
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Elevated circulating creatine kinase concent...	OMIM:609452
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Extremely elevated creatine kinase, Mildly elevated crea...	ORPHA:171445
Hereditary Continuous Muscle Fiber Activity	Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Elevated circulating creatine ...	ORPHA:972
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phosph...	OMIM:620565
Glutathione Synthetase Deficiency	Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Reduced glutathione synthetase...	OMIM:266130
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Relapsing Fever	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ...	ORPHA:91547
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Recurrent infections	OMIM:606445
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Spasticity, Cerebral atrophy, Cholecystitis, Splenomegaly, Mac...	OMIM:615512
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Hyperlipidemia, Splenomegaly...	OMIM:214900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype...	OMIM:601859
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm...	ORPHA:83471
Lathosterolosis	Intrahepatic cholestasis, Elevated circulating lathosterol concentration, Hepatic fibrosis, Eleva...	OMIM:607330
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Decreased circulating carnitine concentration	OMIM:611283
Abcd Syndrome	Polycythemia	OMIM:600501
Distal Myotilinopathy	Distal amyotrophy, Multiple joint contractures, Abnormal muscle fiber myotilin, Elevated circulat...	ORPHA:98911
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri...	OMIM:300696
Classic Galactosemia	Incoordination, Speech apraxia, Cryptorchidism, Action tremor, Decreased fertility in females, Pr...	ORPHA:79239
Eosinophilia, Familial	Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:131400
Drug-Induced Lupus Erythematosus	Malar rash, Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Increased b...	ORPHA:231111
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Myopathy, Distal, 3	Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, Mildly ele...	OMIM:610099
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,...	OMIM:608898
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Elevated circulating amyloid A concen...	OMIM:619750
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Hepa...	ORPHA:294
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Myopathy	ORPHA:2579
Scapuloperoneal Myopathy, X-Linked Dominant	Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus...	OMIM:300695
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu...	ORPHA:399058
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Myopathy	OMIM:613076
Congenital Myopathy With Myasthenic-Like Onset	Minicore myopathy, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Scapu...	ORPHA:424107
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Exercise intolerance, Fatty replacement of skeletal muscle, Myopathy, Elevated circulating creati...	OMIM:255100
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoproteinemia, Eleva...	ORPHA:96180
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe...	OMIM:615422
Central Core Disease	Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin...	ORPHA:597
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Recurrent viral infections, Failure to thrive, Hepatosplenomegaly, Hepatic cys...	OMIM:618999
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Recurrent viral infections, Lymphopenia, Lymph node hypopl...	OMIM:613179
Glycogen Storage Disease X	Exercise intolerance, Rhabdomyolysis, Myopathy, Elevated circulating creatine kinase concentratio...	OMIM:261670
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuola...	OMIM:269920
Miyoshi Muscular Dystrophy 1	Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim...	OMIM:254130
Oculopharyngeal Muscular Dystrophy 1	Facial palsy, Limb muscle weakness, Ragged-red muscle fibers, Elevated circulating creatine kinas...	OMIM:164300
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C...	ORPHA:470
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou...	OMIM:603689
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti...	OMIM:600462
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy...	OMIM:613561
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration	ORPHA:1551
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Increased circulating lactate dehydrogenase concentration, Microangiopathic hemolytic anemia, Ele...	ORPHA:90038
Mitochondrial Complex I Deficiency, Nuclear Type 25	Nemaline bodies, Myopathy	OMIM:618246
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency	Myopathy	OMIM:616314
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Weakness of ...	ORPHA:59135
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome...	ORPHA:247598
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite...	OMIM:617021
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Griscelli Syndrome	Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Spasticity, Hepatitis, Abno...	ORPHA:381
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Cutaneous photosensitivity, Lupus nephritis, Thrombocytopenia,...	OMIM:152700
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu...	OMIM:611521
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepatic failure, Amenorrhea, Incr...	ORPHA:465508
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
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Jaundice, Meningitis, Hypoprote...	OMIM:603553
Omenn Syndrome	Pneumonia, Recurrent viral infections, Failure to thrive, Splenomegaly, Recurrent bacterial infec...	OMIM:603554
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak...	ORPHA:399103
Congenital Myopathy 6 With Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac...	OMIM:605637
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Mildly eleva...	OMIM:160150
Galactose Epimerase Deficiency	Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice	ORPHA:79238
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Amyotrophic Lateral Sclerosis 28	Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,...	OMIM:620452
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Failure to thrive, BCGitis, Recurrent respiratory infections, Impaire...	OMIM:226990
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration	OMIM:121270
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Spasticity, Hypochromic anemia, Cerebral palsy, Microcytic anemia, Chorea, Babinski sign, Hyperto...	OMIM:618451
Rothmund-Thomson Syndrome, Type 3	Anemia, Recurrent infections, Anisopoikilocytosis	OMIM:615789
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hyperbilirubin...	OMIM:619991
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi...	OMIM:618823
Heart-Hand Syndrome, Slovenian Type	Clinodactyly, Myopathy, Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly	OMIM:610140
Rotor Syndrome	Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermi...	ORPHA:3111
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Anemia, Abnormal concentration of acylcarnitine in ...	ORPHA:51208
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Purpura, Ecchymosis, Lymphad...	ORPHA:540
Crigler-Najjar Syndrome Type 2	Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Hepatome...	ORPHA:276
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa...	ORPHA:507
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl...	OMIM:620068
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ...	OMIM:601846
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hepatic steatosis, Proteinuria, Hematuria, Membranoprol...	OMIM:608709
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Sepsis, Cutaneous abscess, Hepatitis, Foot oste...	ORPHA:31202
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle weakness, Myo...	OMIM:300580
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Petechiae, Elev...	OMIM:603909
Breath-Holding Spells	Iron deficiency anemia, Pallor, Cyanosis	OMIM:607578
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Absent circulating B cells, Abnormal T cell morpholo...	OMIM:613500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
8P11.2 Deletion Syndrome	Growth delay, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Spherocytosis, Atrial septal d...	ORPHA:251066
Listeriosis	Arteritis, Abscess, Pustule, Jaundice, Meningitis, Endocarditis, Unusual CNS infection, Acute kid...	ORPHA:533
Congenital Myopathy 4B, Autosomal Recessive	Shoulder girdle muscle atrophy, Nemaline bodies, Distal lower limb amyotrophy, Facial diplegia, D...	OMIM:609284
Multiminicore Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w...	ORPHA:598
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Abnormal macrophag...	ORPHA:2585
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T...	OMIM:613501
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ...	ORPHA:254864
Immunodeficiency 23	Allergic rhinitis, Erythema, Bronchiectasis, Chronic mucocutaneous candidiasis, Recurrent respira...	OMIM:615816
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Spasticity, Impaired pain sensation...	OMIM:616719
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Hyperglycinemia, Action tremor, Hepatomegaly, Jaundice, Bradykinesia, Poor f...	ORPHA:309854
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal ...	OMIM:618775
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections...	OMIM:608971
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Elevated circulating creatini...	ORPHA:36234
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Elbow flexion contracture, Myopathy, Decreased cervical spine flexion du...	OMIM:310300
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Cerebellar atrophy, Pancytopenia, Impaired vibration sensa...	OMIM:159550
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancy...	OMIM:308240
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia, Hypospadias	OMIM:618972
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Ventricular septal d...	OMIM:208085
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia	ORPHA:100025
Immunodeficiency 112	Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,...	OMIM:620449
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Lymphopenia, Esophagitis, ...	ORPHA:443811
Nemaline Myopathy 7	Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Limb muscle weakness, Knee f...	OMIM:610687
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Cer...	OMIM:613839
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Recurrent fungal infections, B lymphocytopenia, Recurre...	OMIM:616873
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca...	ORPHA:280333
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon...	OMIM:613779
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Immunodeficiency With Hyper-Igm, Type 1	Pneumocystis carinii pneumonia, Sepsis, Absence of lymph node germinal center, Hepatitis, Failure...	OMIM:308230
Spinal Muscular Atrophy, Type Iv	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:271150
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Increased cerebral lipofuscin, Osteopenia, Hypocholesterolemia, Hypersplenism, Myoclonus, Splenom...	OMIM:610539
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Brain abscess, Cyanosis, Telangiectasia, Recurrent abscess formation, Iro...	ORPHA:2038
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Normochromic microcytic anemia, Elevated circulating aspartate aminotr...	OMIM:610198
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ...	ORPHA:169090
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Death in i...	OMIM:614876
Nephronophthisis	Anemia	ORPHA:655
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Severe varicell...	OMIM:606367
Cold Agglutinin Disease	Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight...	OMIM:619487
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro...	OMIM:231100
Duane Anomaly-Myopathy-Scoliosis Syndrome	Myopathy	ORPHA:50817
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Myalgia, Type 1 muscl...	OMIM:160500
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Ascites, Rena...	ORPHA:890
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E...	OMIM:251880
Malignant Hyperthermia, Susceptibility To, 2	Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind...	OMIM:154275
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased circulating creatine kinase MB isoform	OMIM:302045
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Hemolytic anemia	OMIM:301015
Nemaline Myopathy 8	Myofibrillar myopathy, Nemaline bodies, Flexion contracture, Facial palsy	OMIM:615348
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness, Elevat...	ORPHA:309169
Mitochondrial Myopathy, Lethal, Infantile	Myopathy	OMIM:551000
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Bruising s...	ORPHA:905
Prolidase Deficiency	Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Elevated circulating aspartate ami...	OMIM:170100
Dna2-Related Mitochondrial Dna Deletion Syndrome	Myalgia, Multiple joint contractures, Myopathy, Limb-girdle muscle weakness, Elevated creatine ki...	ORPHA:352470
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia, Failure to thrive	OMIM:129850
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Mitochondrial Complex I Deficiency, Nuclear Type 21	Ragged-red muscle fibers, Myopathy	OMIM:618242
Sepsis In Premature Infants	Decreased body weight, Neutropenia, Hepatomegaly, Jaundice, Elevated circulating C-reactive prote...	ORPHA:90051
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate...	ORPHA:398124
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine kinase concentra...	OMIM:617069
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circ...	OMIM:615934
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer...	OMIM:254450
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Hypopigmentation of the skin, Elevated circulating uroporphyrin conce...	OMIM:263700
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Recurrent bacterial infections, Thrombocytopenia, B lymp...	ORPHA:169079
Childhood-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Exercise intolerance, Nemaline bodies, Generalize...	ORPHA:171439
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Decrea...	OMIM:616740
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Recurrent otit...	OMIM:300853
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Horseshoe kidney, Abnormal platelet morphology, Thromb...	ORPHA:46059
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Cal...	OMIM:612714
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Mildly elevated creatine kinase, Myalgia, Facial diplegia,...	ORPHA:329478
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D...	OMIM:619573
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spi...	ORPHA:2137
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Lymphad...	ORPHA:2905
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Chediak-Higashi Syndrome	Hemophagocytosis, Neurodegeneration, Abnormal dense granules, Neutropenia, Ataxia, Hepatomegaly, ...	OMIM:214500
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat...	OMIM:617303
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Type 1 muscle fiber predominance, Limb muscle weakness, Myopathy, Type 2 m...	OMIM:603034
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Recurrent r...	OMIM:300635
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Myalgia, Elevated circulati...	OMIM:603511
Neonatal Hemochromatosis	Increased circulating iron concentration, Increased circulating ferritin concentration, Congenita...	ORPHA:446
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Muscular Dystrophy, Limb-Girdle, Type 1H	Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, E...	OMIM:613530
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hemat...	ORPHA:251004
Immunodeficiency, Common Variable, 1	Pneumonia, Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recu...	OMIM:607594
Pearson Marrow-Pancreas Syndrome	Erythema, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Hepatomegaly, 3-Me...	OMIM:557000
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea...	OMIM:613493
Acatalasemia	Microcytic anemia	ORPHA:926
Malignant Hyperthermia, Susceptibility To, 3	Anesthetic-induced rhabdomylosis, Hyperphosphatemia, Alcohol-induced rhabdomyolysis, Exercise-ind...	OMIM:154276
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Fragile skin, Poikilocytosis, Unconju...	ORPHA:79277
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Myopathy, Myofibrillar, 2	Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower...	OMIM:608810
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Coproporphyria, Hereditary	Splenomegaly, Respiratory paralysis, Hepatomegaly, Jaundice, Cutaneous photosensitivity	OMIM:121300
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Hem...	ORPHA:57
Myasthenic Syndrome, Congenital, 25, Presynaptic	Flexion contracture, Myopathy, Generalized amyotrophy	OMIM:618323
Congenital Rubella Syndrome	Intrauterine growth retardation, Splenomegaly, Ventricular septal defect, Hepatomegaly, Atrial se...	ORPHA:290
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Failure to thrive, Methylmalonic aciduria, Decreased methionine synthase activity...	OMIM:250940
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Congenital Myasthenic Syndromes With Glycosylation Defect	Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,...	ORPHA:353327
Glycogen Storage Disease Ixd	Exercise intolerance, Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Low...	OMIM:300559
Rigid Spine Syndrome	Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Hip contracture, Myop...	ORPHA:97244
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Cimdag Syndrome	Cerebellar vermis hypoplasia, Cholelithiasis, Spasticity, Cerebral atrophy, Hypogonadism, Chorea,...	OMIM:619273
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Recurrent enteroviral infections, Lymphadeniti...	ORPHA:331206
Hb Bart'S Hydrops Fetalis	Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage...	OMIM:617610
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Hypospadias, HbH hemoglobin	ORPHA:98791
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Megaloblastic anemi...	OMIM:236270
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy, Myalgia, Abnormal circu...	ORPHA:369840
Myopathy And Diabetes Mellitus	Sternocleidomastoid amyotrophy, Exercise intolerance, Weakness of orbicularis oculi muscle, Shoul...	ORPHA:2596
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, ...	ORPHA:99931
Srd5A3-Cdg	Microcytic anemia, Elevated circulating hepatic transaminase concentration	ORPHA:324737
Combined Saposin Deficiency	Fasciculations, Myoclonus, Splenomegaly, Hyperkinetic movements, Babinski sign, Neuronal loss in ...	OMIM:611721
Isolated Glycerol Kinase Deficiency	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:408
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:617760
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto...	ORPHA:457077
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Increased variability in muscle fiber diameter, Myopathy, Elevated circulating creatine kinase co...	ORPHA:119
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, E...	ORPHA:39812
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Chest pain, Calf muscle hypertrophy, Pelvic girdle muscle we...	ORPHA:263494
Galactosemia Ii	Prolonged neonatal jaundice, Galactosuria, Hypergalactosemia	OMIM:230200
Neonatal Alloimmune Neutropenia	Pneumonia, Sepsis, Jaundice, Severe infection, Neutropenia in presence of anti-neutropil antibodi...	ORPHA:464370
Complement Factor H Deficiency	Recurrent bacterial infections, Chronic kidney disease, Hematuria	OMIM:609814
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia	OMIM:226735
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Splenomegaly,...	OMIM:240500
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Elevated circulating creatine kinase concentration, Babi...	OMIM:160120
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Mildly elevated creat...	ORPHA:397744
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto...	OMIM:598500
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, Cardiomegaly, Perim...	OMIM:620135
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ...	OMIM:619790
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Cardiomyopathy, Osteomalacia, Leuko...	ORPHA:289157
Schimke Immuno-Osseous Dysplasia	Nephropathy, Bone marrow hypocellularity, Minimal change glomerulonephritis, Focal segmental glom...	ORPHA:1830
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Myopathy Due To Myoadenylate Deaminase Deficiency	Rhabdomyolysis, Skeletal muscle atrophy, Exercise-induced myalgia, Myopathy	OMIM:615511
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hypospadias	OMIM:612528
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections, Monocytopenia, Neutropenia	ORPHA:86788
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Cholangiocarcinoma	Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ...	OMIM:608184
Immune-Mediated Necrotizing Myopathy	Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Chest pain, Myalgia, Myopathy, ...	ORPHA:206569
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7	Limb-girdle muscular dystrophy, Lower limb muscle weakness, Elevated circulating creatine kinase ...	OMIM:616052
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Neuropathy, Ataxia, And Retinitis Pigmentosa	Myopathy	OMIM:551500
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Congenital Myopathy 18	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:620246
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Myopathy	OMIM:616816
Familial Isolated Dilated Cardiomyopathy	Fatigue, Myopathy	ORPHA:154
Immunodeficiency 47	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated circulating alanin...	OMIM:300972
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytope...	OMIM:259720
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic aciduria, Microcytic anemia, Elevated circulating creatine kinase co...	OMIM:612073
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Ulnar claw, Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated ...	OMIM:608340
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c...	OMIM:251900
Evans Syndrome	Bruising susceptibility, Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence ...	ORPHA:1959
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Postexertional symptom exacerbation, Abnormality of th...	ORPHA:166002
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Limb muscle weakness, Myopathy, Type 2 muscle fiber atrophy	OMIM:605809
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia, ...	ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Tetraparesis, Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Paraparesis,...	ORPHA:27
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle...	OMIM:117000
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Failure to thrive, Eczematoid dermatitis, Recurrent ca...	OMIM:269840
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal sepsis, Hemol...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal sepsis, Hemol...	ORPHA:529799
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Abnormal blood ion concentra...	ORPHA:810
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Medullary nephrocalcinosis, Acanthocytosis, Poikilocytosis	OMIM:618947
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly...	OMIM:618495
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Elev...	OMIM:613204
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Elevated circulating hepatic transaminase concentration	OMIM:612379
Gaucher Disease	Aortic valve calcification, Pancytopenia, Cirrhosis, Ataxia, Hepatomegaly, Elevated circulating C...	ORPHA:355
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Myasthenic Syndrome, Congenital, 14	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ...	OMIM:616228
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Hypertrophic cardi...	OMIM:276700
Spinal Muscular Atrophy, Infantile, James Type	Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ty...	OMIM:619042
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Proximal amyotro...	ORPHA:98902
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegal...	ORPHA:79312
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Aplasia/Hypoplasia of the...	ORPHA:2720
Glucagonoma	Intrahepatic cholestasis, Acanthocytosis, Neoplasm of the pancreas, Intermittent jaundice, Hepato...	ORPHA:97280
Plummer-Vinson Syndrome	Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:54028
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Congenital Myopathy 10B, Mild Variant	Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end...	OMIM:620249
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Elevated circulating cre...	OMIM:611615
Combined Oxidative Phosphorylation Deficiency 28	Abdominal pain, Fatigue, Ragged-red muscle fibers, Increased serum pyruvate	OMIM:616794
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Neutrophil...	OMIM:618048
Hypophosphatasia, Childhood	Elevated plasma pyrophosphate, Myopathy, Bowing of the legs	OMIM:241510
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent bacterial infec...	OMIM:617475
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Increased circulating lactate dehydrogenase concentration, Acute monocytic le...	ORPHA:514
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re...	OMIM:300718
Congenital Myopathy 1B, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:255320
Sialuria	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hype...	ORPHA:3166
Livedoid Vasculopathy	Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Leukocytosis, Hyperhomocyst...	ORPHA:542643
Klippel-Trénaunay Syndrome	Hepatomegaly, Hematuria, Microcytic anemia	ORPHA:90308
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis	OMIM:616744
Immunodeficiency 10	Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Splenome...	OMIM:612783
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia, Abnormality of skin pigmentation	OMIM:237450
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis, Ataxia, Hepatomegaly, Autoimmu...	ORPHA:77293
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ...	OMIM:615387
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Mildly elevated creatine kinase, Reduced muscle fiber alpha dystroglycan, Mya...	ORPHA:370980
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	OMIM:620375
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Combined Oxidative Phosphorylation Deficiency 49	Exercise intolerance, Myalgia, Ragged-red muscle fibers, Elevated circulating creatine kinase con...	OMIM:619024
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Exercise intolerance, Shoulder girdle muscle weakness, Myalgia, Myopathy, Elevated circulating cr...	OMIM:615156
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Immunodeficiency 89 And Autoimmunity	Increased circulating IgE level, Recurrent lower respiratory tract infections, Increased circulat...	OMIM:619632
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He...	ORPHA:160
Mitochondrial Myopathy, Infantile, Transient	Decreased circulating carnitine concentration, Increased muscle lipid content, Ragged-red muscle ...	OMIM:500009
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre...	ORPHA:167
Isolated Polycystic Liver Disease	Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal...	ORPHA:2924
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration	OMIM:218800
Gracile Syndrome	Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra...	OMIM:603358
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio...	OMIM:618116
Transaldolase Deficiency	Premature skin wrinkling, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incre...	ORPHA:101028
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Failure to th...	ORPHA:1572
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Fetal Parvovirus Syndrome	Anemia, Ascites, Thrombocytopenia	ORPHA:295
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Slender finger, Increased endomysial connective t...	ORPHA:75840
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Ménétrier Disease	Hypoalbuminemia, Helicobacter pylori infection, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Increased endomysial connective tissue, Myopathy, Elevated circulating creati...	OMIM:602541
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Legionnaires Disease	Bone marrow hypocellularity, Sepsis, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, I...	ORPHA:549
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98855
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Opportunistic bacterial infection, Abnormal T cell subset distrib...	ORPHA:158048
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia	OMIM:619423
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Reduced haptoglobin level, Hemosiderinuria, C...	OMIM:105600
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis, Abetalipoproteinemia	ORPHA:157850
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Recurrent viral infections, Failure to thrive, Recu...	ORPHA:169154
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Abnormality of thrombocytes	ORPHA:3204
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,...	OMIM:617018
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Agammaglobulinemia, ...	OMIM:243150
Immunodeficiency 61	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Leber Hereditary Optic Neuropathy	Myopathy	ORPHA:104
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu...	OMIM:614817
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c...	OMIM:209920
Spinal Muscular Atrophy, X-Linked 2	Multiple joint contractures, Myopathy, Spinal muscular atrophy, Elevated circulating creatine kin...	OMIM:301830
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Hyperalaninemia, Hypochromic microcytic anemia, Anemia, Increased serum pyru...	OMIM:619147
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc...	OMIM:620138
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf...	OMIM:612541
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Myalgia, Myopathy, Skeletal muscle hypertrophy	ORPHA:2349
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Myopathy, Scapulohumeroperoneal	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:616852
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ...	OMIM:620542
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia	ORPHA:1980
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly,...	ORPHA:3226
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Cerebral atrophy, Tetraparesis, Myoclonus, Hypertriglyceridemia, Tremor, Abnormal pyr...	OMIM:615924
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Peritonitis, Recurrent meningococcal disease	OMIM:615561
Autosomal Recessive Progressive External Ophthalmoplegia	Exercise intolerance, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopa...	ORPHA:254886
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recurrent infe...	OMIM:229050
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated cir...	OMIM:620376
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Hyperbiliverdinemia	Cholestasis, Elevated circulating biliverdin concentration, Cholelithiasis, Decreased liver function	OMIM:614156
Reticular Dysgenesis	Sepsis, Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Anemia, A...	ORPHA:33355
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Niemann-Pick Disease, Type C1	Fetal ascites, Spasticity, Cataplexy, Sea-blue histiocytosis, Gait ataxia, Splenomegaly, Fatal li...	OMIM:257220
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc...	OMIM:619377
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub...	OMIM:210500
Myasthenic Syndrome, Congenital, 12	Mildly elevated creatine kinase, Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy	OMIM:610542
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Neutropenia, Abnormal T cell morphology, Recurrent b...	OMIM:613502
Hepatitis Delta	Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer...	ORPHA:402823
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim...	ORPHA:353
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Inflammatory abnormality of the skin, Lymphopenia, Aplasia of the thy...	OMIM:102700
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulating C-reactive protei...	OMIM:607115
Vascular Malformation, Primary Intraosseous	Hypochromic anemia, Elevated circulating alkaline phosphatase concentration	OMIM:606893
Combined Oxidative Phosphorylation Deficiency 6	Increased serum pyruvate, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin...	OMIM:613095
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Elevated circulating alkaline phosphatase concentration, Rena...	OMIM:174050
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegal...	OMIM:615688
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine con...	ORPHA:49041
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Wolman Disease	Reduced lysosomal acid lipase activity, Acute hepatic failure, Splenomegaly, Death in infancy, He...	OMIM:620151
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Increased muscle glycogen content, Hyperuricemia	ORPHA:371
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine ...	OMIM:617070
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Shoulder girdle muscle weakness, Reduced muscle fiber alpha dystroglycan, Abn...	ORPHA:34515
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Thrombocytopenia	ORPHA:903
Acquired Partial Lipodystrophy	Progeroid facial appearance, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Micro...	ORPHA:79087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele...	OMIM:253700
Nemaline Myopathy 2	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber splitting, Nemaline...	OMIM:256030
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Aplastic anemia, Recurrent mycobac...	OMIM:614172
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Congenital Myopathy 8	Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi...	OMIM:618654
Congenital Myopathy 10A, Severe Variant	Increased variability in muscle fiber diameter, Camptodactyly of finger, Elevated circulating cre...	OMIM:614399
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Recurrent upper respiratory tract infections, Splenomegaly	OMIM:620296
Congenital Myopathy 23	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy, Elevated circulating creatine kinase concentration	ORPHA:300179
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Pancreatiti...	ORPHA:289916
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:617093
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Chronic oral candidiasis, Neutropenia,...	OMIM:150550
Muscular Dystrophy, Barnes Type	Muscular dystrophy, Myopathy	OMIM:158800
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Glandular hypospadias, Abnormal erythrocyte morphology,...	ORPHA:2575
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Ankle flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase concentration...	OMIM:613818
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia	OMIM:306950
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Renal insufficiency, Hyperammonemia, Hepatomegaly, Anemia	ORPHA:28
Congenital Myopathy 3 With Rigid Spine	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:602771
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration	OMIM:143500
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Exercise intolerance, Skeletal muscle atrophy, Myalgia, Ragged-red muscle fibers, Elevated circul...	OMIM:615418
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Cerebrotendinous Xanthomatosis	Cholelithiasis, Spasticity, Abnormal circulating cholesterol concentration, Cerebellar atrophy, C...	OMIM:213700
Papillon-Lefèvre Syndrome	Periodontitis, Pustule, Chronic furunculosis, Recurrent respiratory infections, Recurrent skin in...	ORPHA:678
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Amyotrophic Lateral Sclerosis 20	Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98853
Adult Idiopathic Neutropenia	Lymphopenia, Helicobacter pylori infection, Recurrent fungal infections, Monocytopenia, Neutropen...	ORPHA:2688
Macrophage Activation Syndrome	Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hep...	ORPHA:158061
Mirage Syndrome	Hypospadias, Sepsis, Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Lymp...	OMIM:617053
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Hematuria, Abnormal circ...	ORPHA:48435
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Aicardi-Goutieres Syndrome 4	Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral...	OMIM:610333
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Cerebra...	OMIM:614886
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia, Micropenis	OMIM:620501
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Methylmalonic aciduria, Pancytopenia, Decreased circulating IgA ...	OMIM:275350
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubulointerstitial fibrosi...	ORPHA:79259
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Renal insufficiency, Hypo...	ORPHA:440713
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy	ORPHA:1369
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ...	OMIM:620265
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617072
X-Linked Immunoneurologic Disorder	Myopathy	ORPHA:2571
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Decreased circulating ferritin concentration, Abnormal muscle fiber protein expression	ORPHA:330054
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n...	OMIM:611762
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas	OMIM:193300
Pontocerebellar Hypoplasia, Type 15	Anemia, Death in infancy, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Barth Syndrome	Recurrent infections in infancy and early childhood, Elevated monolysocardiolipin/cardiolipin rat...	OMIM:302060
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Increased circulating IgM leve...	ORPHA:37748
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ...	ORPHA:449395
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate	OMIM:619046
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice	ORPHA:90033
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Congenital Syphilis	Extramedullary hematopoiesis, Intrauterine growth retardation, Hepatosplenomegaly, Palmoplantar s...	ORPHA:499009
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip...	OMIM:615980
Congenital Myopathy 14	Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle...	OMIM:618414
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Dec...	OMIM:243700
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Poor wound healing, Osteomyelitis, Leukocytosis...	OMIM:116920
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Dystonia, Iron deficiency anemia	OMIM:607906
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia, Myopathy	OMIM:170400
Trichohepatoenteric Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu...	OMIM:222470
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu...	OMIM:301068
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hyp...	ORPHA:89937
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Immunodeficiency With Hyper-Igm, Type 2	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast...	OMIM:605258
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Abnormal T cell morphology, Recurrent bronchitis, B ...	OMIM:612692
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Proteinuria, Hypercalcemia, Renal insufficiency	ORPHA:2668
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Exercise intolerance, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Elevate...	ORPHA:352447
Sandhoff Disease	Failure to thrive, Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly, Recurrent r...	ORPHA:796
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Skin rash, Myositis, Purpura,...	ORPHA:809
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Recurrent viral infections, Microcytic a...	ORPHA:2959
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti...	ORPHA:231154
Pseudo-Torch Syndrome 1	Spasticity, Elevated circulating hepatic transaminase concentration, Decreased liver function, Sp...	OMIM:251290
Adducted Thumbs Syndrome	Arthrogryposis multiplex congenita, Myopathy	OMIM:201550
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, Elevated circulating creatine ki...	OMIM:609560
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Lymphopenia...	OMIM:616005
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
C1Q Deficiency 1	Recurrent infections, Membranoproliferative glomerulonephritis	OMIM:613652
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Exercise intolerance, Skeletal muscle atrophy, Myalgia, Myopathy, Spinal muscular atrophy, Weakne...	ORPHA:254875
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anem...	ORPHA:88
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu...	OMIM:193670
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Clinodactyly, Flexion contracture, Art...	ORPHA:178148
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Pigmentary retinopathy, Female hypogonadism, Male hypogonadism, Vitiligo, Prematu...	OMIM:240300
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections...	ORPHA:319552
Amme Complex	Hematuria, Elliptocytosis	OMIM:300194
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal infections, Hepatomegaly, Chro...	OMIM:616622
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, D...	OMIM:618213
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Jaundice, Elevated circulating creatinine con...	ORPHA:99826
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Increased variability in muscle fiber diameter, Myopathy	OMIM:125250
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Increased circulating lactate d...	ORPHA:93552
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:214950
Felty Syndrome	Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, A...	ORPHA:47612
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi...	OMIM:619662
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle atrophy, Fiber type ...	OMIM:619903
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ...	OMIM:613070
Nocardiosis	Pneumonia, Unusual CNS infection, Sepsis, Brain abscess, Cutaneous abscess, Lymphadenitis, Kerati...	ORPHA:31204
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc...	OMIM:616812
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy	ORPHA:2598
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Recurrent viral infections, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aph...	ORPHA:486
Glycogen Storage Disease Iii	Distal amyotrophy, Hyperlipidemia, Myopathy, Elevated circulating creatine kinase concentration	OMIM:232400
Marinesco-Sjogren Syndrome	Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Myopathy, E...	OMIM:248800
Lesch-Nyhan Syndrome	Anemia, Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Interstitial Lung And Liver Disease	Hepatic fibrosis, Cholestasis, Hepatic steatosis, Hyperammonemia, Hepatomegaly, Cirrhosis, Thromb...	OMIM:615486
Hydroxykynureninuria	Jaundice	OMIM:236800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Elevated circulatin...	OMIM:608840
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphatase concentration, Fatal...	ORPHA:275761
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Aicardi-Goutieres Syndrome 7	Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Nephrotic syndrome, Recur...	OMIM:615846
Fumarase Deficiency	Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Poly...	OMIM:606812
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia	OMIM:245550
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Dilated c...	OMIM:616730
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Postexertional symptom exacerbation, Elbow flexion contrac...	OMIM:619040
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Weight loss, Gl...	ORPHA:99867
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Cervical lymphadenopathy, Inguinal lymphad...	OMIM:620514
Neuroectodermal Melanolysosomal Disease	Cerebral cortical atrophy, Spasticity, Hypopigmentation of the skin, Premature graying of hair, G...	ORPHA:33445
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di...	ORPHA:20
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Mildly elevated creatine kinase, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Myel...	ORPHA:98849
Birk-Aharoni Syndrome	Micropenis, Macrocytic anemia	OMIM:620071
Myopathy, Myofibrillar, 6	Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flexion contracture, ...	OMIM:612954
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Isolated Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Abnormal lymphocyte morphology, Abnormality of the lymp...	ORPHA:229717
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Ragged-red muscle fibers, Myopathy	OMIM:540000
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Muscular dystrophy, Increased endomysial connective tissue, Elevated circulating creatine kinase ...	OMIM:607855
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Inflammation of the large intestine, Invasive fungal infectio...	ORPHA:98813
Adult-Onset Still Disease	Erythema, Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concen...	ORPHA:829
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Conjunctivitis, Lymph...	OMIM:617591
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ragged-red muscle fibers, Rhabdomyolysis, Elevated circulating creatine kinase concentration, Wea...	OMIM:618416
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Pancytopenia, Increased serum bile acid concentratio...	ORPHA:811
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia	OMIM:618728
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni...	ORPHA:397596
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Intermediate Nemaline Myopathy	Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Flex...	ORPHA:171433
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Panc...	OMIM:615122
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice	OMIM:262400
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Myopathy	ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Myopathy	OMIM:618237
Hereditary Methemoglobinemia	Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Spasticity, Limb dystonia, C...	ORPHA:621
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,...	OMIM:618549
Free Sialic Acid Storage Disease	Iris hypopigmentation, Spasticity, Ascites, Splenomegaly, Abnormal pyramidal sign, Oculomotor apr...	ORPHA:834
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Myopathy	ORPHA:91130
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating arginine concentration, Abnormal circulating glycine concentration, Abnormal...	ORPHA:79096
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Combined Oxidative Phosphorylation Deficiency 18	Methylmalonic aciduria, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Spinocerebellar Ataxia Type 31	Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor	ORPHA:217012
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Generalized abnormality of skin, Urticaria, Increase...	ORPHA:98848
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Congenital Muscular Dystrophy Due To Lmna Mutation	Flexion contracture, Skeletal muscle atrophy, Myopathy	ORPHA:157973
Syndromic Diarrhea	Hepatic fibrosis, Abnormal heart morphology, Lymphopenia, Abnormality of the liver, Tetralogy of ...	ORPHA:84064
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Tyrosinemia Type 1	Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car...	ORPHA:882
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Reduced subcutaneous ...	OMIM:227810
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Poor wound ...	ORPHA:2072
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Cerebrotendinous Xanthomatosis	Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si...	ORPHA:909
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, C...	OMIM:618886
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Anemia, Thrombocytopenia, Hepatomegaly, Hypercalcemia	ORPHA:2123
Reynolds Syndrome	Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Palmar telangiectasia...	OMIM:613471
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Celiac Disease, Susceptibility To, 1	Ataxia, Elevated circulating hepatic transaminase concentration, Rickets, Hypocalcemia, Macrocyti...	OMIM:212750
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Sepsis, Failure to thrive, Polysplenia, Exocrine pan...	OMIM:619418
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Cockayne Syndrome Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Progeroid facial appe...	ORPHA:90321
Omenn Syndrome	Pneumonia, Sepsis, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly,...	ORPHA:39041
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Failure to thrive, Recurrent apht...	ORPHA:275
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Sea-blue histiocytosis, Petechiae, Splenomegaly, Hyperpigmentation ...	ORPHA:158029
Aregenerative Anemia	Bone marrow hypocellularity, Bruising susceptibility, Pancytopenia, Decreased proportion of CD4-p...	ORPHA:101096
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Micropenis, Neonatal hyperbilirubinemia, Small for gestational age	ORPHA:3363
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Absence of lymph node germinal center, Neutropenia	OMIM:606843
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Camptodactyly of finger, Myopathy, Hypoglycosylation of alpha-dystroglycan, F...	ORPHA:272
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni...	ORPHA:870
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Subcutaneous hemorrhage, Proteinuria, Thrombocytopenia, Neutropenia, Recurrent bac...	OMIM:603585
Cinca Syndrome	Urticaria, Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Elevate...	ORPHA:1451
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H...	OMIM:608836
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re...	ORPHA:676
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Hypocal...	ORPHA:47
Kaposiform Lymphangiomatosis	Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymph...	ORPHA:464329
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media, Hepatic stea...	OMIM:619525
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Sepsis, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, ...	ORPHA:292
Lambert Syndrome	Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Ventricular septal de...	ORPHA:1296
Congenital Myopathy 24	Nemaline bodies, Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predomin...	OMIM:617336
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Mildly elevated creatine kinase, Type 1 muscle fiber predominance, Limb muscle w...	OMIM:161800
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Cerebral atrophy, Hypogonadism	OMIM:160900
Mevalonic Aciduria	Ataxia, Progressive cerebellar ataxia, Elevated circulating hepatic transaminase concentration, I...	OMIM:610377
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E	Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Extremely elevated cre...	ORPHA:99939
Peroxisome Biogenesis Disorder 6B	Impaired vibratory sensation, Cerebellar atrophy, Decreased liver function, Elevated circulating ...	OMIM:614871
Gaucher Disease, Type Iii	Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Decreased beta-glucocerebrosidase lev...	OMIM:231000
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Cere...	OMIM:615673
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo...	OMIM:616414
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute h...	ORPHA:139402
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega...	ORPHA:417
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Mitochondrial Complex I Deficiency, Nuclear Type 14	Myopathy	OMIM:618236
Niemann-Pick Disease, Type C2	Fetal ascites, Spasticity, Cataplexy, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cho...	OMIM:607625
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur...	ORPHA:254361
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, Hy...	OMIM:614857
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia, Micropenis	ORPHA:293967
Aicardi-Goutieres Syndrome 1	Erythema, Spasticity, Elevated circulating hepatic transaminase concentration, Cerebral atrophy, ...	OMIM:225750
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia...	OMIM:301074
Gray Platelet Syndrome	Bruising susceptibility, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Myelo...	OMIM:139090
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Recurrent urinary tract infections, Microcytic anemia, Recurrent otitis medi...	ORPHA:99843
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h...	ORPHA:131
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Chest pain, Myalgia, Myopathy, Elevated circulating creatine kinase conc...	ORPHA:682
Peripheral Primitive Neuroectodermal Tumor	Increased circulating lactate dehydrogenase concentration, Pelvic mass, Ascites, Elevated carcino...	ORPHA:370348
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent i...	OMIM:613913
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Sepsis, Conjunctivitis, Abnormal heart morphology, ...	ORPHA:505248
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Typical Nemaline Myopathy	Increased variability in muscle fiber diameter, Nemaline bodies, Genu valgum, Facial diplegia, Fo...	ORPHA:171436
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Increased body weight, Myoglobinuria, Cirrhosis, Hepatomegaly, Po...	ORPHA:264580
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni...	OMIM:616100
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Scapuloperoneal amy...	OMIM:255160
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome...	ORPHA:656
Hypocomplementemic Urticarial Vasculitis	Conjunctivitis, Angioedema, Ascites, Abnormal heart valve morphology, Renal insufficiency, Spleno...	ORPHA:36412
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Cholestasis, Intrahepatic, Of Pregnancy, 1	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ...	OMIM:147480
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Proteinuria, Microscopic hematuria, Renal insufficiency, Elliptocytosis	ORPHA:86818
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Recurrent pharyngitis, Hypertriglyceridemia, Micropenis, H...	ORPHA:168569
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Subcuta...	ORPHA:97278
Congenital Myopathy 16	Flexion contracture, EMG: myopathic abnormalities, Scapular winging	OMIM:618524
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc...	OMIM:606612
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elev...	ORPHA:521219
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Failure to thrive, Decreased liver function, Elevated circulating ...	OMIM:608779
Aggressive Systemic Mastocytosis	Elevated total serum tryptase, Decreased liver function, Ascites, Urticaria, Hepatosplenomegaly, ...	ORPHA:98850
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Muscle fiber atrophy, Type 1 muscl...	OMIM:619542
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia, Hemoglobin...	ORPHA:90035
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi...	ORPHA:234
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, F...	OMIM:260400
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur...	OMIM:255125
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ...	OMIM:277410
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Opportunistic infection, Anuria, Elevated circulatin...	ORPHA:99829
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Abnormal abdomen morphology, Pituitary adenoma, Subcuta...	ORPHA:97261
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, G...	ORPHA:75233
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
Congenital Myopathy 20	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal...	OMIM:620310
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Elevated circulating propionylcarnitine concentration, Pancytopenia, Atrial septal defect, Neutro...	OMIM:277380
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u...	ORPHA:230
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia, Hypermelanotic macule	OMIM:112200
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Spinocerebellar Ataxia Type 38	Gait ataxia, Cerebellar atrophy, Somatic sensory dysfunction, Tremor	ORPHA:423296
Myasthenia Gravis	Rheumatoid arthritis, Glycosuria, Hepatitis, Myositis, Hashimoto thyroiditis, Abnormal thymus mor...	ORPHA:589
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran...	OMIM:614576
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Premature graying of hair, Pancytopenia, Cirrhosis,...	OMIM:614742
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Poor wound healing,...	ORPHA:244242
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Brain abscess, Severe viral infection, Anuria, Septic a...	ORPHA:544482
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal heart morphology, Myoclonus, Tremor, Abnormality of extrapyramidal motor fun...	ORPHA:79262
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Exercise intolerance, Fatigue, Myopathy	OMIM:613077
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Goiter, Splenomegaly, Tremor, Hyperkinet...	ORPHA:525731
Bethlem Muscular Dystrophy	Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscle weakness, Inter...	ORPHA:610
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab...	OMIM:607317
Alg6-Cdg	Hypoalbuminemia, Abnormality of the liver, Abnormal circulating enzyme concentration or activity,...	ORPHA:79320
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:617066
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Hypogonadism, Decreased testicular size, Splenomegaly, Tremor, Low alkaline ph...	OMIM:201100
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulati...	ORPHA:95159
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Simple Cryoglobulinemia	Nephritis, Cold urticaria, Vascular skin abnormality, Abnormal heart morphology, Renal insufficie...	ORPHA:91139
Fibrodysplasia Ossificans Progressiva	Anemia	ORPHA:337
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Hypochromic anemia, Bruising susceptibility, Subcutaneo...	ORPHA:99147
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:618348
Axial Osteomalacia	Myopathy, Elevated circulating creatine kinase concentration	OMIM:109130
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Kenny-Caffey Syndrome, Type 1	Anemia, Hypomagnesemia, Hypocalcemia, Recurrent bacterial infections	OMIM:244460
Classic Mycosis Fungoides	Erythema, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal lymphocyte morphology...	ORPHA:2584
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Death in infancy, Elevated circulating creatine kinase concentration, N...	OMIM:618835
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Epiphyseal stippling, Myoclonus, Splenomegaly, Dysmetria, Cardiomegaly, ...	OMIM:256550
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Bruising susceptibility, Im...	OMIM:155100
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance...	OMIM:617114
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Death in infancy, Elevated circulating creatine kinase concentration, N...	OMIM:618839
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Cutis marmorata, Chronic hepatitis, Decreased proportion of CD4-positive ...	ORPHA:289390
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph...	OMIM:261750
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Exercise intolerance, Myalgia, Decreased plasma...	ORPHA:228305
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Failure to th...	ORPHA:79284
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Hyperammonemia, Myopathy, Elevated circulating creatine kinase concentra...	ORPHA:42
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:100075
Spinocerebellar Ataxia 37	Frequent falls, Cerebellar atrophy, Tremor, Ataxia	OMIM:615945
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Recurrent pneumonia, Inflammation of the large intestine, Failure...	OMIM:617718
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Increased intramyocellular lipid droplets, Mildly elevated creatine kinase,...	ORPHA:681
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Unilateral renal agenesis, Anemia of inadequate production	OMIM:614900
Sengers Syndrome	Exercise intolerance, Fatigue, Sudden cardiac death, Myopathy	OMIM:212350
Marinesco-Sjögren Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:559
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Nemaline bodies, Flexion contracture, Myopathy	OMIM:616549
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Bleeding Disorder, Platelet-Type, 11	Bruising susceptibility, Ecchymosis, Abnormal platelet count, Impaired ristocetin-induced platele...	OMIM:614201
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormal circulating selenium concentration, IgA depos...	ORPHA:79408
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Intrauteri...	OMIM:606003
Familial Chylomicronemia Syndrome	Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi...	ORPHA:444490
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi...	OMIM:307200
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hepatomegaly	ORPHA:134
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Intrauterine growth retardation, Cardiomegaly	OMIM:618838
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Ascites, Elevated circulating aspartate aminotransferase conc...	OMIM:617049
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Ketonuria, Failure to thrive, Methylmalonic aciduria, Elevated circulatin...	OMIM:251110
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice	OMIM:614972
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Pituitary adenoma, Subcutaneous lipoma, In...	ORPHA:97283
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Frontotemporal cerebral...	OMIM:613489
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Large for gestational age, Vesicoureteral reflux, Elevated circulat...	OMIM:300868
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypop...	OMIM:615768
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Spasticity, Elevated circulating phytanic acid concentration, Abnormality...	OMIM:614307
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Cerebral atrophy, Exocrine pancreatic insufficiency, Sp...	OMIM:618268
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Failure to thrive, Absent circulating B cells, Seborrheic dermatitis, Thro...	OMIM:619693
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Autosomal Dominant Optic Atrophy Plus Syndrome	Fatigue, Limb-girdle muscle weakness, Myopathy	ORPHA:1215
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Atrophy/Degeneration affe...	OMIM:615957
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticul...	OMIM:600901
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Failure to thriv...	ORPHA:79282
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Cervical lymphadenopathy, Abnormal n...	ORPHA:3392
Allan-Herndon-Dudley Syndrome	Spasticity, Spastic tetraplegia, Brain atrophy, Cryptorchidism, Abnormality of extrapyramidal mot...	ORPHA:59
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal...	OMIM:614302
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:614727
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte...	ORPHA:169105
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Elevated circulating long chain fatty acid concentration, Failure to thrive, Abnor...	OMIM:214110
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Abnormality of the liver, Pancytopenia, Hypomethioninemia, Mac...	ORPHA:2169
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Gm1-Gangliosidosis, Type Iii	Myoclonus, Splenomegaly, Decreased beta-galactosidase activity, Diffuse cerebral atrophy, Ataxia,...	OMIM:230650
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Pain insensitivity, Cholelithiasis, Spasticity, Progressive spastic paraplegia, Decreased testicu...	OMIM:300534
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Cerebral atrophy, Hypogonadism, Splenomegaly, Hepatomegaly	OMIM:608540
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Dystonia, Spastic tetraparesis, Progressive cerebellar ataxia	ORPHA:67046
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Opportunistic infection, Opportunistic bacterial infection, ...	ORPHA:2035
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Reduced subcutaneous adipose tissue, Hypocal...	OMIM:612526
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple...	ORPHA:3260
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Gaucher Disease Type 2	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:77260
Tufted Angioma	Anemia, Purpura, Petechiae, Thrombocytopenia	ORPHA:1063
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Recurrent respiratory infections, Lymphopenia, Autoimmune ...	ORPHA:760
Coach Syndrome 3	Anemia, Portal fibrosis	OMIM:619113
Neutrophil Immunodeficiency Syndrome	Poor wound healing, Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Neuroleptic Malignant Syndrome	Sepsis, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated ci...	ORPHA:94093
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Death in infancy, Neonatal death, Thromboc...	ORPHA:85212
Complement Component 4A Deficiency	Purpura, Cutaneous photosensitivity, Glomerulonephritis	OMIM:614380
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase...	ORPHA:26793
C1Q Deficiency 2	Sepsis, Recurrent otitis media, Elevated circulating C-reactive protein concentration, Anemia, Re...	OMIM:620321
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep...	OMIM:105200
Hereditary Orotic Aciduria	Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function	ORPHA:30
Peroxisome Biogenesis Disorder 7A (Zellweger)	Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con...	OMIM:614872
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Decreased liver function, Cholestasis, Elevated circulating creatinine concentra...	OMIM:608104
Mitochondrial Complex I Deficiency, Nuclear Type 11	Myopathy	OMIM:618234
Ataxia-Telangiectasia	Ataxia, Spasticity, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia o...	ORPHA:100
Spinocerebellar Ataxia With Epilepsy	Hyperalaninemia, Myopathy	ORPHA:254881
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:619151
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Cutaneous photosensitivity, Hematuria, Proteinuria, W...	ORPHA:536
Rhabdoid Tumor	Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma...	ORPHA:85445
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Sepsis, Severe varicel...	OMIM:618986
Wolfram Syndrome 1	Pigmentary retinopathy, Cerebral atrophy, Cardiomyopathy, Sideroblastic anemia, Tremor, Megalobla...	OMIM:222300
Hijazi-Reis Syndrome	Recurrent respiratory infections, Hyperbilirubinemia, Recurrent ear infections	OMIM:301094
Eosinophilic Gastroenteritis	Hypoalbuminemia, Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Weigh...	ORPHA:2070
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Exercise intolerance, Muscle fiber atrophy, Mya...	ORPHA:228302
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Hepatomegaly, Elevat...	ORPHA:50918
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Cutaneous photosensitivity	OMIM:616943
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Generalized Pustular Psoriasis	Hypoalbuminemia, Cheilitis, Sepsis, Elevated circulating hepatic transaminase concentration, Lymp...	ORPHA:247353
Myopathy, Centronuclear, 2	Centrally nucleated skeletal muscle fibers, Talipes equinovarus, Scapular winging, Flexion contra...	OMIM:255200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Failure to thrive, Splenomegaly, L...	OMIM:609981
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Nephrotic syndrome, Hepat...	ORPHA:60
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly	ORPHA:2204
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Methylmalonic aciduria, Cardiomyopathy, Leukopenia, Stage 5 chronic kidney dis...	OMIM:251000
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a...	OMIM:613658
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Propionic Acidemia	Hyperglycinuria, Failure to thrive, Increased level of hippuric acid in urine, Eczematoid dermati...	OMIM:606054
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr...	ORPHA:18
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Abnormal heart morphology, Pancytopenia, Cryptorchidism, Anemia, Reticul...	OMIM:227650
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng...	ORPHA:42642
Proteus Syndrome	Depigmentation/hyperpigmentation of skin, Mandibular hyperostosis, Facial hyperostosis, Splenomeg...	OMIM:176920
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Cerebral cortical atrophy, Impaired vibratory sensation, Spasticity, Spastic paraparesis, Spastic...	OMIM:238970
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Familial Isolated Hypoparathyroidism	Hypocalcemia, Myopathy	ORPHA:2238
Immunodeficiency 12	Recurrent viral infections, Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Abno...	OMIM:615468
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Ventricular septal defect, Hydronephrosis, ...	ORPHA:163979
Familial Cold Autoinflammatory Syndrome 1	Renal amyloidosis, Urticaria, Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive...	OMIM:120100
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Bruising susceptibility, Impaired clot retraction, Impa...	OMIM:273800
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Ascites, Hyperbilirubinemia, Cholecystit...	ORPHA:69665
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Cerebellar atrophy, Gait ataxia, Myoclonus, Tremor, Abnormality of ext...	OMIM:615362
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e...	ORPHA:79240
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Choreoacanthocytosis	Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Elev...	ORPHA:2388
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Weight loss,...	ORPHA:90060
Kawasaki Disease	Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Jaundice, Meningiti...	ORPHA:2331
Cutis Laxa-Marfanoid Syndrome	Arachnodactyly, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Orthostatic Hypotension 2	Anemia	OMIM:618182
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ...	OMIM:614887
Von Hippel-Lindau Disease	Pancreatic cysts, Pancreatic islet cell adenoma, Polycythemia, Neoplasm of the pancreas	ORPHA:892
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Elevated circulating creatine kinase...	OMIM:616239
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor, Failure to thrive	ORPHA:79283
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin c...	OMIM:611489
Acute Promyelocytic Leukemia	Bruising susceptibility, Pancytopenia, Leukopenia, Leukocytosis, Chronic infection, Petechiae, Ec...	ORPHA:520
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a...	OMIM:614866
Sialidosis Type 2	Ascites, Splenomegaly, Tremor, Ataxia, Hepatomegaly, Osteoporosis	ORPHA:87876
Catastrophic Antiphospholipid Syndrome	Skin ulcer, Microangiopathic hemolytic anemia, Abnormal heart valve morphology, Cutis marmorata, ...	ORPHA:464343
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Jaundice, Thrombocytopenia, A...	ORPHA:319251
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Bone marrow hypocellularity, Pancytopenia, Leukopenia, Distal re...	ORPHA:2785
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased circulating T4 concentration, Abnormality of thyroid physiology, Reduced radioactive io...	ORPHA:95715
Spinocerebellar Ataxia 40	Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar atrophy, Tremor, A...	OMIM:616053
Dyskeratosis Congenita, Autosomal Dominant 3	Ataxia, Bone marrow hypocellularity, Osteopenia, Aplastic anemia, Premature graying of hair, Panc...	OMIM:613990
Niemann-Pick Disease Type C	Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abno...	ORPHA:646
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Tremor, Ankle clonus, Dystonia, Babinski sign, ...	ORPHA:521406
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit...	OMIM:617388
Combined Oxidative Phosphorylation Deficiency 59	Hypertrophic cardiomyopathy, Cholelithiasis, Hyperalaninemia	OMIM:620646
Non-Acquired Isolated Growth Hormone Deficiency	Growth delay, Premature skin wrinkling, Delayed puberty, Abdominal obesity, Prolonged neonatal ja...	ORPHA:631
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Bruising susceptibility, Intrauterine growth retardation, Pancytopen...	OMIM:227645
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Recurrent respiratory infections, Neutropenia, Abnormal T cell...	OMIM:615214
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Generalized abnormality of skin, Ascites, Abnormal heart morphology, Abnormality of the liver, Hy...	ORPHA:464321
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopulmonary in...	OMIM:616576
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy...	OMIM:610245
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Cryptorchidism	OMIM:618512
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Exercise intolerance, Chest pain, Lower limb pain, Myalgia, Ragged-red muscle fibers, Fatigue, In...	ORPHA:1349
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Impaired ...	OMIM:608203
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Babinsk...	ORPHA:251282
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb dysmetri...	ORPHA:363710
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr...	ORPHA:401768
Muckle-Wells Syndrome	Renal amyloidosis, Recurrent aphthous stomatitis, Leukocytosis, Renal insufficiency, Elevated cir...	OMIM:191900
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Intrauterine ...	OMIM:609053
Diffuse Cutaneous Mastocytosis	Elevated total serum tryptase, Dermatographic urticaria, Generalized abnormality of skin, Abnorma...	ORPHA:79456
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Ataxia, Hepatomegaly, Osteolysis	ORPHA:391
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Congenital diaphragmatic hernia	OMIM:614100
Waldenström Macroglobulinemia	Normocytic anemia, Cutis marmorata, Pallor, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia...	ORPHA:33226
Severe Neurodegenerative Syndrome With Lipodystrophy	Ataxia, Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Gait ataxia, Hepatic...	ORPHA:363400
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cyanosis, Cylindruri...	OMIM:233450
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Conjunctivitis, Urticaria, Recurrent aphthous stomatitis, Episcle...	ORPHA:575
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Postaxial foot polydactyly, Preaxial hand polydac...	ORPHA:380
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Hyperlysinemia, Type I	Anemia, Hypoornithinemia, Hyperlysinemia	OMIM:238700
Methylmalonic Aciduria, Cbla Type	Ketonuria, Failure to thrive, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity...	OMIM:251100
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Recurre...	OMIM:601495
Peutz-Jeghers Syndrome	Bile duct polyp, Hypermelanotic macule, Ovarian cyst, Biliary tract abnormality, Iron deficiency ...	OMIM:175200
Ogden Syndrome	Polycythemia, Recurrent otitis media, Hyperbilirubinemia, Microvesicular hepatic steatosis, Cardi...	OMIM:300855
Oslam Syndrome	Anemia	OMIM:165660
Benign Samaritan Congenital Myopathy	Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers	ORPHA:324581
Segawa Syndrome, Autosomal Recessive	Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Hypocholesterolemia, Decrease...	OMIM:212065
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ...	ORPHA:94059
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Horseshoe kidney, Recurrent otitis media, Vesicoureteral reflu...	OMIM:612562
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Lower limb undergrowth, Upper limb undergrowth	OMIM:613630
Hamamy Syndrome	Microcytic anemia, Hypochromic anemia	OMIM:611174
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Iron deficiency anemia, Pineal cyst, Decreased HDL cholesterol concentration...	OMIM:618885
Basal Ganglia Calcification, Idiopathic, 1	Cerebellar dentate nucleus calcification, Athetosis, Chorea, Limb dysmetria, Tremor, Rigidity, Dy...	OMIM:213600
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Postural tremor, Abnormal cerebellum morphology, Limb dysme...	ORPHA:98762
Sweet Syndrome	Inflammation of the large intestine, Dilated cardiomyopathy, Acne inversa, Predominantly dermal n...	ORPHA:3243
Hydatidiform Mole	Anemia, Miscarriage	ORPHA:99927
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Acquired Methemoglobinemia	Methemoglobinemia, Cyanosis	ORPHA:464453
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hypopigmentation of the skin, Hepatosplenomegaly, Cholecystitis, Hepatomegaly	OMIM:301066
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Facial palsy, Flexion contrac...	OMIM:616470
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia, Recurrent infections	OMIM:620184
Muscular Dystrophy, Congenital, Lmna-Related	Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber atrophy, Hamstrin...	OMIM:613205
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia	ORPHA:95717
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Upper limb muscle weakness, Lower limb muscle weakness, Elevated circulating creatine kinase conc...	ORPHA:209335
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Pancytopenia, Decreased ...	OMIM:618394
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Elevated circulating cre...	OMIM:151800
Multicentric Carpotarsal Osteolysis Syndrome	Carpal osteolysis, Ankle pain, Metacarpal osteolysis, Ulnar deviation of the hand or of fingers o...	OMIM:166300
Phenylketonuria	Osteopenia, Hypopigmentation of the skin, Tremor, Lower limb spasticity, Hyperphenylalaninemia, A...	ORPHA:716
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri...	OMIM:254900
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe...	OMIM:250790
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Sepsis, Arteritis, Acne inversa, Herpes simplex enc...	OMIM:233600
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Babinski sign, Clonus, Prolonged neonatal jaundice, Dystonia, Progressive cer...	OMIM:618868
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Recurrent pneumonia, Increased size of nasopharynge...	OMIM:619769
Degcags Syndrome	Chronic kidney disease, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dermatological manifest...	ORPHA:100078
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Intrauterine growth retardation, Hepatosplenomegaly, Splenomegaly, Pete...	OMIM:608013
Vipoma	Intrahepatic cholestasis, Erythema, Abnormal abdomen morphology, Subcutaneous lipoma, Ascites, Ne...	ORPHA:97282
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Cerebellar atrophy, Splenomegaly, Osteopetrosis, Hepatomegaly, Hypo...	OMIM:618541
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial...	ORPHA:57777
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Osteomyelitis, Panc...	OMIM:259700
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,...	OMIM:611302
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Postnatal growth retardation, Intrauter...	ORPHA:83617
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Failure to thrive, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Hypophosphatemia...	OMIM:239200
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Myalgia, Myopathy	ORPHA:369847
Pparg-Related Familial Partial Lipodystrophy	Myalgia, Myopathy, Hyperuricemia, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size...	ORPHA:79083
Sézary Syndrome	Irregular hyperpigmentation, Abnormal lymphocyte morphology, Splenomegaly, Tremor, Lymphadenopath...	ORPHA:3162
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Ollier Disease	Anemia, Lymphangioma	ORPHA:296
Stuve-Wiedemann Syndrome 2	Neonatal death, Death in adolescence, Thrombocytopenia, Stillbirth	OMIM:619751
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Failure to thrive,...	OMIM:229600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Exercise intolerance, Myalgia, Limb muscle weakness, Ragged-red muscle fibers, Fatigue, EMG: myop...	OMIM:609286
Nephronophthisis 9	Nephronophthisis, Stage 5 chronic kidney disease, Polyuria, Anemia, Renal cortical microcysts	OMIM:613824
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Mitochondrial Complex I Deficiency, Nuclear Type 3	Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Dyst...	OMIM:618224
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Abno...	ORPHA:79263
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans...	OMIM:246450
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Spl...	ORPHA:116
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Vici Syndrome	Recurrent viral infections, Dilated cardiomyopathy, Chronic mucocutaneous candidiasis, Failure to...	OMIM:242840
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Fatigue, Myopathy	ORPHA:257
Familial Partial Lipodystrophy, Dunnigan Type	Myalgia, Myopathy, Hypertriglyceridemia, Abnormality of skeletal muscle fiber size, Skeletal musc...	ORPHA:2348
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Sarcoidosis	Abnormal lymph node morphology, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial n...	ORPHA:797
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Small hand, Clinodactyly, Scapular ...	OMIM:181405
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Hepatic failure, Splenomegaly	ORPHA:664
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Epilepsy, Progressive Myoclonic 7	Myoclonus, Cerebellar atrophy, Tremor, Ataxia	OMIM:616187
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Dilatation of...	OMIM:619534
Osteopetrosis, Autosomal Recessive 9	Anemia, Elevated circulating creatinine concentration, Hyperkalemia, Elevated circulating alkalin...	OMIM:620366
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu...	OMIM:620285
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular vo...	OMIM:617052
Congenital Multicore Myopathy With External Ophthalmoplegia	Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido...	ORPHA:98905
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Dicarboxylic ac...	OMIM:212140
Spondylometaphyseal Dysplasia, Axial	Recurrent pneumonia, Splenomegaly	OMIM:602271
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Familial Mediterranean Fever	Nephrotic syndrome, Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, ...	OMIM:249100
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the cerebellar vermis, ...	OMIM:610185
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure...	OMIM:222700
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Recurrent infections due to aspiration, Glomerular...	OMIM:223900
Q Fever	Hepatosplenomegaly, Hematuria, Weight loss, Hepatomegaly, Meningitis, Purpura, Endocarditis, Gran...	ORPHA:781
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Tetralogy of Fallot, Intrauterine growth retardation, Obesity,...	ORPHA:567
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Ectopic kidney	OMIM:613309
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cerebral cortical atrophy, Cryptorchidism, Abnormal mitral valve morphology, Tremor, Aplasia/Hypo...	ORPHA:1192
Actinic Prurigo	Pyoderma, Cheilitis, Cutaneous photosensitivity, Glomerulonephritis	OMIM:174770
Xanthinuria, Type I	Hypouricemia, Hyperxanthinemia, Myopathy	OMIM:278300
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Irregular hyperpigmentation, Abnormal heart va...	ORPHA:56
Pseudoachondroplasia	Abnormal femoral epiphysis morphology, Short femoral neck, Flared metaphysis, Hypoplasia of the c...	ORPHA:750
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis, Tetralogy of Fallot, Intrauterine growth retarda...	ORPHA:2886
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Idiopathic Copper-Associated Cirrhosis	Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ...	ORPHA:209919
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Skeletal muscle atrophy, Myopathy	ORPHA:85329
Developmental And Epileptic Encephalopathy 75	Cerebral cortical atrophy, Spasticity, Cardiomyopathy, Decreased liver function, Babinski sign, F...	OMIM:618437
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
American Trypanosomiasis	Cardiomyopathy, Pallor, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Meningitis, Mediastin...	ORPHA:545
Stormorken Syndrome	Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Bruising suscepti...	OMIM:185070
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Hepatomeg...	OMIM:612852
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia	ORPHA:261102
Intermediate Osteopetrosis	Anemia, Hepatosplenomegaly, Elevated circulating alkaline phosphatase concentration	ORPHA:210110
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Myalgia, Myopathy, Weakness of facial musculature, Fatigue, Scapular win...	ORPHA:98673
Immunodeficiency 31C	Bronchiectasis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Eczematoid d...	OMIM:614162
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Obesity, Hepatic steatosis, Splenome...	OMIM:188400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Mic...	OMIM:203700
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Generalized limb muscle atrophy, Hand muscle weakness, Shoulder girdle muscle we...	ORPHA:98908
Hypophosphatasia	Anemia, Hypercalcemia	ORPHA:436
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Rimmed va...	OMIM:619518
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu...	OMIM:604387
Urachal Cyst	Erythema, Dysuria, Leukocytosis, Abscess, Hematuria, Peritonitis, Severe infection, Urachus fistu...	ORPHA:488
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Clinodactyly of th...	OMIM:601163
X-Linked Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ...	ORPHA:596
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias	ORPHA:2522
Foxp1 Syndrome	Recurrent otitis media, Decreased circulating iron concentration, Recurrent upper respiratory tra...	ORPHA:391372
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia	OMIM:614450
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Bruising susceptibility, Petechiae, Ecchymosis, ...	OMIM:187900
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Mitochondrial Dna Depletion Syndrome 11	Exercise intolerance, Ragged-red muscle fibers, Elevated circulating creatine kinase concentratio...	OMIM:615084
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic failure, H...	OMIM:616483
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Sepsis, Hepatitis, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophili...	ORPHA:199299
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi...	ORPHA:227990
Cyclic Neutropenia	Sepsis, Recurrent tonsillitis, Opportunistic infection, Periodontitis, Cervical lymphadenopathy, ...	ORPHA:2686
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Mi...	OMIM:258450
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia	ORPHA:438134
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab...	ORPHA:79332
Proteasome-Associated Autoinflammatory Syndrome 1	Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra...	OMIM:256040
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormal pyramidal sign, Abnormali...	ORPHA:93476
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Mevalonic Aciduria	Cerebral cortical atrophy, Splenomegaly, Ataxia	ORPHA:29
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Anti-Glomerular Basement Membrane Disease	Anemia, Purpura	ORPHA:375
Carcinoid Syndrome	Night sweats, Episodic abdominal pain, Abnormal circulating B-type natriuretic peptide concentrat...	ORPHA:100093
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Opportunistic infection, Cryptococcal meningitis, Hypomagne...	ORPHA:90362
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop...	ORPHA:859
Muscle-Eye-Brain Disease	Myopathy, Elevated circulating creatine kinase concentration	ORPHA:588
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hydronephrosis, Hypochromic microcytic anemia, Micropenis, Reduced alpha/beta syn...	OMIM:301040
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Neonatal hyperbilirubinemia, Tetralogy of Fallot, Vesicoureteral reflux, Mitral sten...	ORPHA:163956
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Cryptogenic Organizing Pneumonia	Leukocytosis, Cyanosis, Weight loss, Neutrophilia, Elevated circulating C-reactive protein concen...	ORPHA:1302
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Throm...	OMIM:617941
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Rimmed vacuoles, Increased variability in muscle fiber diameter, EMG: myopathic abnormalities, El...	ORPHA:52430
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Painless fractures due to injury, Cholestasis, Acute he...	OMIM:256810
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymph...	ORPHA:83469
Cystinosis	Hypophosphatemia, Fatigue, Myopathy, Hypokalemia	ORPHA:213
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Vitiligo, Follicular hyperplas...	OMIM:619846
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminas...	OMIM:613610
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinemia, Elevated c...	ORPHA:95716
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb muscle weakness, Lower limb pain, Ragged-red muscle fibers...	ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased variability in muscle fiber diameter, Increased serum pyruvate, Myopathy	OMIM:604377
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Abnormal circulating creatine kinase concentration, H...	OMIM:615959
Myotubular Myopathy With Abnormal Genital Development	Centrally nucleated skeletal muscle fibers, Myopathy	OMIM:300219
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem...	ORPHA:98763
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, We...	ORPHA:29073
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Spontaneous hematomas, Tongue telangiectasia, Portal hypertensio...	ORPHA:774
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Elevated ...	OMIM:614204
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Myopathy, Myofibrillar, 1	Facial palsy, EMG: myopathic abnormalities	OMIM:601419
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Nijmegen Breakage Syndrome	Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Cutaneous photosensitivity, Cac...	ORPHA:647
Hereditary Xanthinuria	Hypouricemia, Myopathy, Flank pain, Chronic fatigue, Hyperxanthinemia	ORPHA:3467
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly	OMIM:615637
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased laxity of fingers, ...	OMIM:254090
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Congenital Diaphragmatic Hernia	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm	ORPHA:2140
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver	ORPHA:205
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin...	ORPHA:542323
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Spasticity, Cerebral atrophy, Ventricular septal defect, Atrial septal defect	ORPHA:464738
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis	OMIM:607458
Metachromatic Leukodystrophy	Progressive spasticity, Decerebrate rigidity, Incoordination, Abnormal circulating enzyme concent...	ORPHA:512
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Limb muscle weakness, Myopathy, Stenosis ...	OMIM:112250
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Lethal Congenital Contracture Syndrome 9	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint...	OMIM:616503
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor, Growth delay	ORPHA:329971
Autosomal Agammaglobulinemia	Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Failure to thrive, Osteomyel...	ORPHA:33110
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Anemic pallor, Weight loss, Lymphadeno...	ORPHA:635
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic...	ORPHA:99827
Congenital Disorder Of Glycosylation, Type Ie	Elevated circulating hepatic transaminase concentration, Splenomegaly, Pontocerebellar atrophy, E...	OMIM:608799
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,...	ORPHA:508542
Burkitt Lymphoma	Increased circulating lactate dehydrogenase concentration, Abnormal lymph node morphology, Abnorm...	ORPHA:543
Combined Oxidative Phosphorylation Deficiency 33	Exercise intolerance, Myopathy, Elevated circulating creatine kinase concentration, Left ventricu...	OMIM:617713
Scleromyxedema	Myalgia, Abnormal skeletal muscle morphology, Myopathy, Elevated circulating creatine kinase conc...	ORPHA:167635
Cartilage-Hair Hypoplasia	Lymphopenia, Susceptibility to chickenpox, Macrocytic anemia, Impaired lymphocyte transformation ...	OMIM:250250
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Myalgia, Hyperammonemia, Rhabdomyolysis, Myopat...	OMIM:609015
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c...	OMIM:246900
Myopathy, Myofibrillar, 8	Centrally nucleated skeletal muscle fibers, Nemaline bodies, Limb muscle weakness, Joint contract...	OMIM:617258
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Arthriti...	OMIM:228000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Foc...	ORPHA:276575
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased circulating iron concentration, Cirrhosis, Chronic hepatitis	OMIM:614602
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Cerebral atrophy, Dysmetria, Tremor, Lower limb spasticity, Ataxia, Increased...	OMIM:617916
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Exercise intolerance, Skeletal muscle atrophy, Postexertional symptom exacerbation, Rhabdomyolysi...	ORPHA:368
Combined Oxidative Phosphorylation Deficiency 55	Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypomagnesemia, Hypophosphatemic ricke...	OMIM:619743
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Elevated circulating aspartate aminotransferase concentration, Decreased...	OMIM:619048
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Elevated circulating creat...	OMIM:618387
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal...	ORPHA:276556
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Epiphyseal stippling, Ataxia, Hepatomegaly, Progressive spasticity	ORPHA:251009
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi...	ORPHA:227982
Necrotizing Enterocolitis	Ascites, Abnormal heart morphology, Leukocytosis, Cyanosis, Hyponatremia, Peritonitis, Thrombocyt...	ORPHA:391673
Spinocerebellar Ataxia 7	Pigmentary retinopathy, Spasticity, Chorea, Dysmetria, Olivopontocerebellar atrophy, Tremor, Babi...	OMIM:164500
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme...	OMIM:606070
Spinocerebellar Ataxia 28	Ragged-red muscle fibers, Lower limb hypertonia	OMIM:610246
Leptospirosis	Acute kidney injury, Uveitis, Hepatitis, Skin rash, Elevated serum transaminases during infection...	ORPHA:509
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Cholestasis, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperb...	OMIM:609734
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Joubert Syndrome 33	Oculomotor apraxia, Splenomegaly, Ataxia	OMIM:617767
Monosomy 22	Micropenis, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Ventricular sep...	OMIM:616651
Kearns-Sayre Syndrome	Sideroblastic anemia, Renal Fanconi syndrome, Renal tubular acidosis	OMIM:530000
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Cerebellar atrophy, Hypertrophic cardiomyopathy, Pancytopenia, Myoclonus, Tremor...	OMIM:607426
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u...	ORPHA:348
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Neurodegeneration, Incoordination, Paraparesis, Gait apraxia...	OMIM:615157
Dermotrichic Syndrome	Anemia	ORPHA:99688
Reynolds Syndrome	Irregular hyperpigmentation, Generalized abnormality of skin, Ascites, Cirrhosis, Telangiectasia ...	ORPHA:779
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Anemia, Nephrocalcinosis, Hypercalciuria, Elliptocytosis	OMIM:300990
Non-Functioning Pituitary Adenoma	Hypopituitarism, Anemia of inadequate production, Decreased fertility in females, Female hypogona...	ORPHA:91349
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Lymphadenit...	ORPHA:51636
Lesch-Nyhan Syndrome	Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia	OMIM:300322
Cap Myopathy	Increased variability in muscle fiber diameter, Lower limb muscle weakness, Abnormal muscle fiber...	ORPHA:171881
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Penile freckling, Spleno...	OMIM:605309
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy	ORPHA:1876
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Death in childhoo...	OMIM:612301
Lead Poisoning	Chronic kidney disease, Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration,...	ORPHA:330015
Cog2-Cdg	Small pituitary gland, Decreased liver function, Diffuse cerebral atrophy, Decreased circulating ...	ORPHA:435934
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Recurrent infections, Neutrop...	OMIM:620443
Paramyotonia Congenita Of Von Eulenburg	Myalgia, Abnormal blood potassium concentration, EMG: myopathic abnormalities, Facial muscle hype...	ORPHA:684
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland, Elevated circulating hepatic transaminase concentration, Diffuse cerebral ...	OMIM:617395
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Joubert Syndrome 8	Pigmentary retinopathy, Hepatomegaly, Oculomotor apraxia, Hypertonia, Ataxia, Prolonged neonatal ...	OMIM:612291
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Bronchiectasis, Severe viral infection, Failure to thrive, Eczematoid derma...	ORPHA:79128
Neutrophilic Dermatosis, Acute Febrile	Anemia, Erythema, Elevated circulating C-reactive protein concentration	OMIM:608068
Argininemia	Portal fibrosis, Cerebellar atrophy, Micronodular cirrhosis, Spastic paraparesis, Spastic gait, C...	OMIM:207800
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai...	OMIM:213200
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Splenomegaly, Cerebellar hypoplasia, B...	OMIM:616354
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet...	OMIM:223360
Whipple Disease	Ataxia, Generalized hyperpigmentation, Myoclonus, Splenomegaly, Hyponatremia, Anemia, Abnormal py...	ORPHA:3452
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Sneddon Syndrome	Livedo, Lymphopenia, Cutis marmorata, Hemiplegia, Livedo racemosa, Tremor, Bicuspid aortic valve,...	OMIM:182410
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal...	ORPHA:276580
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Degeneration of the ...	OMIM:600363
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cel...	OMIM:617099
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Generalized abnormality of skin, Hypereosinophilia, Leukocytosis, Weight loss,...	ORPHA:2902
Cronkhite-Canada Syndrome	Generalized hyperpigmentation, Splenomegaly, Anemia, Abnormality of skin pigmentation, Hepatomegaly	ORPHA:2930
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Large for gestational age, Pallor, Small for gestational age	ORPHA:324575
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:93111
Congenital Disorder Of Glycosylation, Type Ij	Elevated circulating hepatic transaminase concentration, Cryptorchidism, Tremor, Hypertonia, Jaun...	OMIM:608093
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Vocal Cord And Pharyngeal Distal Myopathy	Rimmed vacuoles, Shoulder girdle muscle weakness, Mildly elevated creatine kinase, Distal upper l...	ORPHA:600
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Recurrent pneumonia, Failure to thrive, Recurrent otitis med...	OMIM:252500
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Nail bed telangiectasia, Osteomyelitis, Renal insuff...	ORPHA:90291
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo...	OMIM:617145
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat...	OMIM:615838
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ...	OMIM:255310
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated circulating C-reactiv...	ORPHA:85414
Becker Muscular Dystrophy	Exercise intolerance, Skeletal muscle atrophy, Myalgia, Elevated circulating creatine kinase conc...	ORPHA:98895
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Staphylococcal Necrotizing Pneumonia	Pneumonia, Sepsis, Leukopenia, Leukocytosis, Severe infection, Acute infectious pneumonia, Neutro...	ORPHA:36238
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Aicardi-Goutières Syndrome	Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Spasticity, Spastic parapares...	ORPHA:51
Cirrhosis, Familial	Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Jaundic...	OMIM:215600
Chanarin-Dorfman Syndrome	Myopathy	OMIM:275630
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Nephroblastoma	OMIM:618272
Sandhoff Disease	Spasticity, Fasciculations, Hepatosplenomegaly, Impaired temperature sensation, Upper motor neuro...	OMIM:268800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc...	OMIM:607459
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Recurrent otitis media, Abnormal B cell count, A...	OMIM:620430
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Telangiectasia, Hereditary Hemorrhagic, Type 2	Anemia, Cirrhosis, Polycythemia, Hepatic arteriovenous malformation	OMIM:600376
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Cerebral atrophy, Cardiomyopathy, Dysmetria, Tremor, Diffuse cerebral atrophy...	OMIM:617710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma citrulline, Hyper...	OMIM:620358
Hyper-Igd Syndrome	Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, ...	OMIM:260920
Coach Syndrome 1	Hepatic fibrosis, Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concent...	OMIM:216360
Xp21 Deletion Syndrome	Decreased muscle mass, Finger clinodactyly, Myopathy, Elevated circulating creatine kinase concen...	ORPHA:261476
Immunodeficiency 82 With Systemic Inflammation	Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, Elevated circulating ...	OMIM:619381
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Cardiomegaly, Hepatomegaly, ...	OMIM:252920
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Cerebellar hypoplasia...	OMIM:617810
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Bruising susceptibility, Abnormal heart morphology...	OMIM:227646
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Tangier Disease	Impaired pain sensation, Decreased HDL cholesterol concentration, Impaired temperature sensation,...	OMIM:205400
Adrenomyodystrophy	Myopathy	ORPHA:977
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Reduced circulating aldolase concentration, Renal insuff...	ORPHA:469
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Galactokinase Deficiency	Speech apraxia, Hepatosplenomegaly, Abnormal circulating enzyme concentration or activity, Hyperc...	ORPHA:79237
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Intrauterine growth retardation, Cardiomegaly, Severe failure t...	ORPHA:97297
Acute Adrenal Insufficiency	Normocytic anemia, Recurrent acute respiratory tract infection, Renal insufficiency, Hyperuricemi...	ORPHA:95409
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c	OMIM:618858
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture, Elevated circulating creatine kinase concentration	OMIM:620240
Immunodeficiency 40	Elevated circulating aspartate aminotransferase concentration, Reduced antigen-specific T cell pr...	OMIM:616433
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Decreased methylmalonyl-CoA mutase activity, Decreased methionine synthase act...	OMIM:277400
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Gait ataxia,...	OMIM:614831
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity...	OMIM:615630
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Fatigue, Short metacarpal, Brachyda...	OMIM:600705
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ...	OMIM:618093
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment,...	OMIM:208920
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri...	ORPHA:210122
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Cutis marmorata, Portal hypertension, Splenomegaly, Ventricul...	OMIM:616589
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Y-s...	OMIM:175700
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Icf Syndrome	Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circ...	ORPHA:2268
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi...	ORPHA:3008
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Skeletal muscle atrophy, Myopathy, Abnormal muscle glycogen content, Flexion con...	ORPHA:367
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia	OMIM:615524
Acrocallosal Syndrome	Triphalangeal thumb, Congenital diaphragmatic hernia, Postaxial hand polydactyly	ORPHA:36
Cryoglobulinemic Vasculitis	Abnormality of the liver, Cutis marmorata, Renal insufficiency, Splenomegaly, Petechiae, Hematuri...	ORPHA:91138
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia, Hashimoto thyroiditis	ORPHA:83601
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:240103
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Premature graying of hair, Excessive wrinkled skin, Abnormal leukocy...	ORPHA:3322
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Spasticity, Hypertrophic cardiomyopathy, Paresthesia, Myoclonus, Hemiplegia/hemiparesis, Abnormal...	ORPHA:79279
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomeg...	OMIM:608776
Bone Dysplasia, Lethal Holmgren Type	Anemia, Hepatomegaly, Atrial septal defect, Hypertrophic cardiomyopathy	ORPHA:1842
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Mottled pigmentation, Goiter, Prolonged neonatal jaundice, Absen...	ORPHA:226313
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Exercise intolerance, Myalgia, Decreased plasma...	ORPHA:157
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Poor coordination, Cerebral atrophy, Neurodegeneration, Hypertro...	ORPHA:391428
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Bronchiectasis, Polysplenia, Atrial situs ambiguous, Recurren...	ORPHA:244
Afibrinogenemia, Congenital	Bruising susceptibility, Death in childhood, Death in infancy, Neonatal death, Death in adolescen...	OMIM:202400
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Typhoid	Splenomegaly, Tremor, Hypertonia, Ataxia, Hepatomegaly	ORPHA:99745
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Autoimmune thrombocytopeni...	ORPHA:391487
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Congenital Myopathy 21 With Early Respiratory Failure	EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration	OMIM:620326
Acth Deficiency, Isolated	Cholestasis, Jaundice	OMIM:201400
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Abnormal cardiac ventricle morphology, Bruising susceptibil...	ORPHA:85443
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Abnormality of the lower urinary tract	ORPHA:101009
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Gaucher Disease, Type Ii	Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230900
Recessive Dystrophic Epidermolysis Bullosa Inversa	Anemia, Fragile skin	ORPHA:79409
Galactose Mutarotase Deficiency	Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or activity, Hep...	ORPHA:570422
Zellweger Syndrome	Hepatic failure, Multicystic kidney dysplasia, Failure to thrive, Ventricular septal defect, Hydr...	ORPHA:912
Williams Syndrome	Spasticity, Chiari malformation, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventr...	ORPHA:904
Congenital Heart Block	Intrauterine growth retardation, Endocardial fibroelastosis, Pallor, Cyanosis, Patent foramen ova...	ORPHA:60041
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Talipe...	ORPHA:98915
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Death in infancy, Low alkaline phosphatase, Stillbirth, Anemia, Hy...	OMIM:241500
Revesz Syndrome	Bone marrow hypocellularity, Aplastic anemia, Poor coordination, Macrocytic anemia, Cerebellar hy...	OMIM:268130
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Autoimmune hemolytic anemia, Eosinophilia, Ery...	OMIM:610163
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Large for gestational a...	OMIM:614520
Leber Optic Atrophy	Myopathy	OMIM:535000
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Premature...	OMIM:613989
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, Reduced natural killer cell count, Recurrent viral infections, Recurre...	ORPHA:221139
Classic Multiminicore Myopathy	Muscular dystrophy, Muscle fiber atrophy, Increased muscle lipid content, Multiple joint contract...	ORPHA:324604
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Decreased circulating alpha-mannosidase activity, Hepatomegaly, Reduced leukocyte a...	OMIM:248500
Pituitary Apoplexy	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Decreased resp...	ORPHA:95613
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Decreased circulating ACTH concentration, Hyperbilirubinemia, Poster...	OMIM:613986
Isolated Succinate-Coq Reductase Deficiency	Distal amyotrophy, Skeletal muscle atrophy, Knee flexion contracture, Skeletal myopathy, Left ven...	ORPHA:3208
Sheehan Syndrome	Secondary growth hormone deficiency, Dry skin, Breast hypoplasia, Panhypopituitarism, Pallor, Obe...	ORPHA:91355
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Osteoporosis	ORPHA:309031
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Facial diplegia, Type 1 muscle fiber predominance, Hi...	ORPHA:169186
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation	ORPHA:2222
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Ascites, Chronic noninfectious ...	ORPHA:100086
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ...	ORPHA:314632
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Cardiomega...	OMIM:619064
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Cyanosis, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
4H Leukodystrophy	Cerebellar atrophy, Decreased response to growth hormone stimulation test, Dysmetria, Tremor, Abn...	ORPHA:289494
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Pallor, Splenomegaly, Abnormal pulmonary valve morphology, Hepatomegaly,...	ORPHA:667
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Albers-Schönberg Osteopetrosis	Anemia, Hypocalcemia, Abnormal leukocyte morphology	ORPHA:53
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Eczematoid dermatitis, Decreased proportion of CD8...	OMIM:615607
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Hyperbilirubinemia, Absent gallbla...	OMIM:615710
Danon Disease	Skeletal muscle autophagosome accumulation, Exercise intolerance, Myocardial necrosis, Limb muscl...	OMIM:300257
Wiskott-Aldrich Syndrome	Nephropathy, Decreased proportion of CD8-positive T cells, Lymphopenia, Abnormal delayed hypersen...	OMIM:301000
Meckel Syndrome, Type 7	Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Portal hypertension, R...	OMIM:267010
Unclassified Myelodysplastic Syndrome	Abnormal circulating lactate dehydrogenase concentration, Bone marrow hypocellularity, Acute myel...	ORPHA:98827
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Malt Lymphoma	Anemia, Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Decreased liver function, Elevated circulating phytanic acid concentration, D...	OMIM:614867
Alagille Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy...	OMIM:118450
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Reduced tissue carnitine O-palmitoyltran...	ORPHA:228308
8P Inverted Duplication/Deletion Syndrome	Progressive spastic paraplegia, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, C...	ORPHA:96092
Bachmann-Bupp Syndrome	Large for gestational age, Hyperbilirubinemia	OMIM:619075
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie...	OMIM:137940
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Cerebral atrophy, Frequent falls, Fasciculations, Chorea, Gait at...	ORPHA:397946
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Elevated circulati...	ORPHA:2394
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly...	OMIM:608978
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Colitis, Obesity, Cardiomegaly	ORPHA:88643
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Night sweats, Intrinsic ha...	OMIM:619574
Telangiectasia, Hereditary Hemorrhagic, Type 1	Anemia, Cirrhosis, Polycythemia, Hepatic arteriovenous malformation	OMIM:187300
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:617917
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Immunodeficiency 68	Sepsis, Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, A...	OMIM:612260
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Neonatal death	OMIM:614096
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy, Retic...	OMIM:613987
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Small for gestational age, Truncal obesity	ORPHA:73272
Lethal Congenital Contracture Syndrome 5	Centrally nucleated skeletal muscle fibers, Flexion contracture, Congenital contracture, Elevated...	OMIM:615368
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity	OMIM:617244
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomy...	ORPHA:565612
Glycogen Storage Disease Ii	Urinary incontinence, Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactat...	OMIM:232300
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Ataxia, ...	OMIM:208900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica...	OMIM:201475
Pyomyositis	Sepsis, Leukocytosis, Renal insufficiency, Myositis, Weight loss, Recurrent infections, Recurrent...	ORPHA:764
Neutral Lipid Storage Disease With Ichthyosis	Shoulder girdle muscle weakness, Abnormal circulating creatine kinase concentration, Myopathy, In...	ORPHA:98907
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis, Increased serum zinc	OMIM:601979
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Failure to thrive, Hypopituitarism, Severe postnatal growth retardation, Anterior pituitary hypop...	OMIM:613038
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Decreased circulating f...	OMIM:606159
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy, Growth delay	OMIM:500007
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, EMG: myopathic abnormalities	ORPHA:457365
Nephronophthisis 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:256100
Steinert Myotonic Dystrophy	Cerebral cortical atrophy, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:273
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Dilated fourt...	ORPHA:1170
Bazex Syndrome	Anemia	ORPHA:166113
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency	OMIM:609727
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Leukocytosis, Weight loss, Pancreatitis, Abnormal renal tubule mor...	ORPHA:188
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Optic Atrophy 1	Pallor	OMIM:165500
Autosomal Dominant Progressive External Ophthalmoplegia	Exercise intolerance, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Myalgia, Limb ...	ORPHA:254892
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Upper limb muscle weakness, Decreased muscle glycogen content, Decreased muscle mass, Shoulder gi...	ORPHA:263297
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Uveitis, Erysipelas, Bruising susceptibility, Fasciitis, Leukocytosis, Splenomegaly, Sk...	ORPHA:32960
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Optic Atrophy 11	Brain atrophy, Splenomegaly, Dysmetria, Cerebellar hypoplasia, Hyperkinetic movements, Gait aprax...	OMIM:617302
Congenital Myopathy 9A	EMG: myopathic abnormalities	OMIM:618822
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Spasticity, Cerebellar atrophy, Cerebral atrophy, Leukopenia, Myoclonus, Hepatic steatosi...	OMIM:616271
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Pneumocystosis	Pneumocystis jirovecii pneumonia, Increased circulating lactate dehydrogenase concentration, Inte...	ORPHA:723
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Large for gestational age, Pallor, Pancr...	ORPHA:263455
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Oliguria, Severe viral infection, Increa...	ORPHA:319213
Gm1-Gangliosidosis, Type Ii	Cerebral atrophy, Sea-blue histiocytosis, Splenomegaly, Decreased beta-galactosidase activity, Th...	OMIM:230600
Mitochondrial Trifunctional Protein Deficiency	Exercise intolerance, Lower limb muscle weakness, Myalgia, Equinus calcaneus, Hypocalcemia, Rhabd...	ORPHA:746
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising...	ORPHA:90062
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Oculoskeletodental Syndrome	Renal agenesis, Splenomegaly, Hypocalcemia, Mucopolysacchariduria, Hypercalciuria, Hepatomegaly, ...	OMIM:618440
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Cerebral atrophy, Impaired vibration sensation in the lower limbs, Abnormal c...	ORPHA:137898
Dpm1-Cdg	Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar...	ORPHA:79322
Pentalogy Of Cantrell	Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula...	ORPHA:1335
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased circulating lactate dehydrogenase concentration, Cerebellar atrophy, Cerebral atrophy, ...	OMIM:619405
Caribbean Parkinsonism	EMG: myopathic abnormalities	ORPHA:97355
Dengue Fever	Bruising susceptibility, Ascites, Leukopenia, Petechiae, Thrombocytopenia, Hepatomegaly, Hypoprot...	ORPHA:99828
Isolated Atp Synthase Deficiency	Cerebral cortical atrophy, Spastic paraplegia, Dilated cardiomyopathy, Cerebellar atrophy, Hypert...	ORPHA:254913
Spinocerebellar Ataxia 42	Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast...	OMIM:616795
Lig4 Syndrome	Erythema, Acute leukemia, Pancytopenia, Leukocytosis, Telangiectasia of the skin, Lymphadenopathy...	ORPHA:99812
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Li...	OMIM:157640
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Porphyria Variegata	Elevated circulating hepatic transaminase concentration, Abnormality of the liver, Abnormal circu...	ORPHA:79473
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat...	ORPHA:500095
Sanjad-Sakati Syndrome	Small hand, Hyperphosphatemia, Hypocalcemia, Myopathy, Short foot	ORPHA:2323
Toxic Epidermal Necrolysis	Erythema, Sepsis, Elevated circulating hepatic transaminase concentration, Abnormality of the ure...	ORPHA:537
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Joubert Syndrome With Hepatic Defect	Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concentration, Portal hyp...	ORPHA:1454
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Splenic cyst, Elevated circulating alkaline phosphatase concentration,...	OMIM:618188
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Abnormality of the kidney, Unusual CNS infec...	ORPHA:228119
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Decr...	ORPHA:90673
Congenital Isolated Acth Deficiency	Hyponatremia, Prolonged neonatal jaundice, Hepatitis	ORPHA:199296
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation	OMIM:613216
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Myoclonus, Tremor, Rigidity, Paraparesis...	OMIM:612736
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized dystonia, Limb dystonia, Tremor, El...	OMIM:617013
Linear Skin Defects With Multiple Congenital Anomalies 2	Sandal gap, Congenital diaphragmatic hernia	OMIM:300887
Pyruvate Carboxylase Deficiency	Athetosis, Clonus, Hyperalaninemia, Hepatomegaly, Increased serum pyruvate	OMIM:266150
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Paresthesia, Hypocalcemia, Hypokalemia, Paralysis, Iron deficien...	ORPHA:358
Cardiac-Urogenital Syndrome	Accessory spleen, Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, ...	OMIM:618280
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia	OMIM:617836
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
African Trypanosomiasis	Hepatosplenomegaly, Hemiparesis, Hepatomegaly, Jaundice, Choreoathetosis, Involuntary movements, ...	ORPHA:3385
Anterior Cutaneous Nerve Entrapment Syndrome	Decreased body weight, Recurrent infection of the gastrointestinal tract, Leukocytosis, Recurrent...	ORPHA:51890
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Myopathic Ehlers-Danlos Syndrome	Poor wound healing, Pallor, Failure to thrive	ORPHA:536516
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Myopathy, Weakness of facial musculature	OMIM:201470
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia	ORPHA:1166
Alpha-N-Acetylgalactosaminidase Deficiency	Cerebral cortical atrophy, Spasticity, Vascular skin abnormality, Cardiomegaly, Cerebellar hypopl...	ORPHA:3137
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections, Abnormality of the pan...	ORPHA:935
Distal Xq28 Microduplication Syndrome	Recurrent upper respiratory tract infections, Neonatal hyperbilirubinemia, Patent foramen ovale	ORPHA:293939
Hermansky-Pudlak Syndrome 10	Albinism, Cerebral atrophy, Ocular albinism, Splenomegaly, Neutropenia, Hepatomegaly, Dystonia	OMIM:617050
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Recurrent upper respiratory tract infections, Inflammation of...	OMIM:232240
Weismann-Netter Syndrome	Anemia	ORPHA:3344
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Cerebellar hypoplasia...	ORPHA:529665
Nabais Sa-De Vries Syndrome, Type 1	Prolonged neonatal jaundice, Vesicoureteral reflux	OMIM:618828
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Recurrent otitis media, Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Reduced sub...	OMIM:619503
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:613327
Addison Disease	Normocytic anemia, Thymoma, Vitiligo, Decreased female libido, Thiamine-responsive megaloblastic ...	ORPHA:85138
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Corticobasal Syndrome	Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu...	ORPHA:454887
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardi...	OMIM:619424
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Skeletal muscle atrophy, Myopathy, Talipes equinovarus, Brachydactyly,...	ORPHA:1358
Neutral Lipid Storage Disease With Myopathy	Exercise intolerance, Myalgia, Increased muscle lipid content, Myopathy, Elevated circulating cre...	OMIM:610717
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Death in childhood, Hepatomegaly, Increased intramyocellular lipid drop...	OMIM:220110
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Reduced leukocyte N-sulfoglucosamine sulfohydrolase...	OMIM:252900
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Dysmetria, Tremor, Ba...	OMIM:607694
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Juvenile Sialidosis Type 2	Spasticity, Visceromegaly, Abnormal heart morphology, Hepatosplenomegaly, Myoclonus, Dysmetria, L...	ORPHA:93399
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Mildly elevated creatine kinase, Myalgia, Weaknes...	ORPHA:502423
Idiopathic Camptocormia	Proximal spinal muscular atrophy, Abnormal muscle fiber dysferlin, Elevated circulating creatine ...	ORPHA:1320
Lassa Fever	Conjunctivitis, Jaundice, Sepsis, Oliguria	ORPHA:99824
Craniofrontonasal Dysplasia	Finger syndactyly, Sandal gap, Camptodactyly of finger, Congenital diaphragmatic hernia, Hand pol...	ORPHA:1520
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Failure to thrive, Hilar lymph node enlargement, Recurrent otitis media, Cholestasis, Leukocytosi...	OMIM:620233
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Failure to thrive, Ventricular septal defect, Prolonged neonatal jaundice, Hydrone...	OMIM:214100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Cardiomyopathy, Limb ataxia, Gait ataxia, Increased hepatic glycogen content,...	OMIM:619259
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Failure to thrive, Hyponatremia, Jaundice, Neonatal sepsis, Hyperkalemia	ORPHA:90790
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegal...	OMIM:230500
Scrub Typhus	Renal insufficiency, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocardit...	ORPHA:83317
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Portal hypertension, Spleno...	OMIM:613385
Malignant Hyperthermia Of Anesthesia	Necrotizing myopathy, Hyperphosphatemia, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, H...	ORPHA:423
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration, Fasciculations, Impaired vibration sensation in the lo...	ORPHA:521411
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Hepatic failure, Spasticity, Cerebellar atrophy, Micronodular cirrhosi...	OMIM:301072
Neuromuscular Oculoauditory Syndrome	Knee flexion contracture, Elevated circulating creatine kinase concentration, Talipes equinovarus...	OMIM:618733
Distal Duplication 5Q	Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, C...	ORPHA:96097
Polymyositis	Myalgia, Elevated circulating creatine kinase concentration, Arthralgia, Fatigue, Abnormal muscle...	ORPHA:732
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Babinski sign, Clonus, Limb hypertonia, Prolonged neon...	ORPHA:423479
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced platelet agg...	OMIM:601399
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia	OMIM:616604
Hatipoglu Immunodeficiency Syndrome	Recurrent otitis media, Pancytopenia, Recurrent bronchitis, Anemia, Recurrent infections	OMIM:620331
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hypocalcemia, Splenomegaly, Ventricular se...	OMIM:235255
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Dilated cardio...	OMIM:614921
Ciliary Dyskinesia, Primary, 53	Cerebellar vermis hypoplasia, Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Si...	OMIM:620642
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Pallor, Eosinoph...	OMIM:308300
Saccharopinuria	Hypercystinemia, Gait ataxia, Hyperammonemia, Distal sensory impairment, Tremor, Hyperlysinemia, ...	ORPHA:3124
Mitochondrial Complex I Deficiency, Nuclear Type 36	Spasticity, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalanine...	OMIM:619170
Fucosidosis	Failure to thrive, Bruising susceptibility, Dry skin, Reduced circulating alpha-L-fucosidase acti...	OMIM:230000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Abnormal p...	ORPHA:436271
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Rickets, Mottled pigmentation of photoexposed areas, Myoclonus, Ataxia, H...	OMIM:560000
Mulibrey Nanism	Growth delay, Ascites, Intrauterine growth retardation, Cardiomegaly, Pericardial constriction, H...	OMIM:253250
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Hypocalc...	ORPHA:1655
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Congenital Factor Ii Deficiency	Anemia	ORPHA:325
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Megaloblastic anemia, Hyposerinemia	ORPHA:79351
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Hypokalemia	OMIM:174900
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiom...	OMIM:614702
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Micropenis, Recurrent bacterial infections, Hypocalcemic seizures	OMIM:241410
Nephronophthisis 11	Anemia, Hepatic fibrosis	OMIM:613550
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal...	ORPHA:79330
Schisis Association	Micromelia, Congenital diaphragmatic hernia	ORPHA:63862
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Cardiomyopathy, Paraplegia, Limb ataxia, Positive Romberg sign, ...	OMIM:105210
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Recurrent infections, Chronic neut...	OMIM:258360
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Abnormal hemoglobin, Infectious encephalitis, Hydronephrosis,...	ORPHA:847
Behr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ...	OMIM:210000
Carey-Fineman-Ziter Syndrome 1	Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness...	OMIM:254940
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Dilatation of renal calices, Polysplenia	OMIM:614294
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc...	ORPHA:2869
Cocaine Intoxication	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Elevated circulat...	ORPHA:90068
Fabry Disease	Angiokeratoma, Decreased alpha-galactosidase A activity, Left ventricular hypertrophy, Angiokerat...	OMIM:301500
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Absent thumb, Elbow flexion contracture, Congenital diaphragmatic hernia, Bowed humerus, Bilatera...	OMIM:618022
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Ventricular septal defect, Elevated circulating alanine...	OMIM:243800
Non-Functioning Paraganglioma	Weight loss, Pallor, Flushing	ORPHA:94080
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia, Reduced bone mineral density, Abnormal bone ossification	ORPHA:93315
Retinitis Pigmentosa 51	Obesity, Pallor	OMIM:613464
Myasthenia, Limb-Girdle, Autoimmune	Proximal amyotrophy, Type 2 muscle fiber atrophy, Mildly elevated creatine kinase	OMIM:159400
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Male hypogonadism, Resting tremor, Bradykinesia, Tremor,...	OMIM:300055
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, Failure to thrive, 3-Methylglutaconic aciduria, Neutropenia, Jaundice	OMIM:617248
Sialidosis Type 1	Vascular skin abnormality, Myoclonus, Splenomegaly, Tremor, Ataxia, Slurred speech	ORPHA:812
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Muscle fiber atrophy, Spi...	OMIM:616866
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Myalgia, Hypertriglyceridemia, Myopathy, Acroosteolysis ...	ORPHA:280365
Leprechaunism	Nephrocalcinosis, Long penis, Failure to thrive, Hypertrophic cardiomyopathy, Reduced subcutaneou...	ORPHA:508
Kabuki Syndrome 1	Recurrent aspiration pneumonia, Recurrent otitis media, Crossed fused renal ectopia, Ureteropelvi...	OMIM:147920
Overlap Myositis	Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Finger swelling, Ab...	ORPHA:206572
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Cerebellar atrophy, Abnormal circulating ceruloplasmin...	OMIM:620306
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce...	OMIM:617913
Dravet Syndrome	Pallor, Cyanotic episode	ORPHA:33069
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Abnormal circulating thyroglobulin concentration,...	ORPHA:90674
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Facial palsy, Skeletal muscle atrophy, Abnormal muscle fiber morp...	ORPHA:3068
Sandifer Syndrome	Anemia	ORPHA:71272
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Immunodeficiency 9	Myopathy	OMIM:612782
Genetic Transient Congenital Hypothyroidism	Mottled pigmentation, Goiter, Prolonged neonatal jaundice, Thyroid hypoplasia, Increased circulat...	ORPHA:226316
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Cachexia, Splenomegaly	ORPHA:1133
Congenitally Uncorrected Transposition Of The Great Arteries	Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t...	ORPHA:860
Rheumatic Fever	Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit...	ORPHA:3099
Familial Mediterranean Fever	Nephropathy, Erythema, Nephrotic syndrome, Nephrocalcinosis, Erysipelas, Acute hepatic failure, A...	ORPHA:342
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	OMIM:300280
Stiff-Person Syndrome	Anemia	OMIM:184850
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Distal sensory impairment, Abnormal pyramidal sign, Clon...	ORPHA:99027
Resistance To Thyrotropin-Releasing Hormone Syndrome	Growth delay, Increased circulating prolactin concentration, Dry skin, Prolonged neonatal jaundic...	ORPHA:99832
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath...	OMIM:612438
Slc39A8-Cdg	Cerebral cortical atrophy, Osteopenia, Cerebellar atrophy, Abnormality of the liver, Hypomanganes...	ORPHA:468699
Colchicine Poisoning	Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia, Hyponatre...	ORPHA:31824
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Spasticity, Osteopenia, Premature graying of hair, Hemiplegia, Tremo...	OMIM:612199
Pachydermoperiostosis	Cerebral palsy, Impaired temperature sensation, Abnormal cortical bone morphology, Splenomegaly, ...	ORPHA:2796
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM...	OMIM:620040
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Biotinidase Deficiency	Organic aciduria, Hyperammonemia, Splenomegaly, Skin rash, Seborrheic dermatitis, Decreased circu...	OMIM:253260
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Cryptorchidism, Pontocerebellar atrophy, Tremor, Cerebellar hypoplasia, Abnormal ...	OMIM:618060
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Elevated circulating C-reactive protein concentration	ORPHA:324964
Severe Hemophilia A	Anemia, Poor wound healing, Bruising susceptibility	ORPHA:169802
Leukodystrophy, Hypomyelinating, 11	Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypospadias, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morphology...	OMIM:619475
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Spastic gait, Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Nodular Non-Suppurative Panniculitis	Erythema, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis	ORPHA:33577
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Calf muscle pseudohypertrophy, Myopathy, Hypertriglycer...	ORPHA:79086
Patent Urachus	Recurrent urinary tract infections, Cystocele, Recurrent gram-negative bacterial infections, Pate...	ORPHA:431341
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ...	OMIM:620278
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Decreased fertility, Tremor, Elevated circulating creatine kinase concentration, ...	OMIM:313200
Multiple Sulfatase Deficiency	Spasticity, Cerebellar atrophy, Cerebral atrophy, Splenomegaly, Ataxia, Hepatomegaly	OMIM:272200
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Pancytopenia, Autoimmune hemolytic anemi...	ORPHA:1855
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Failure to thrive, Abnormal heart valve morphology,...	ORPHA:583
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Head tremor, Pontocerebellar atrophy, Eleva...	OMIM:606002
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter...	OMIM:314390
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Limb ataxia, Hyperammonemia, Cardiomegaly, ...	OMIM:619051
Combined Oxidative Phosphorylation Deficiency 11	Myopathy	OMIM:614922
Xp22.13P22.2 Duplication Syndrome	2-3 toe syndactyly, Small hand, Congenital diaphragmatic hernia, Tapered finger	ORPHA:284180
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Cebalid Syndrome	Congenital diaphragmatic hernia	OMIM:618774
Familial Tumoral Calcinosis	Erythema, Hypopigmented skin patches, Hyperostosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Intention tremor, Dysmetr...	OMIM:614381
Cog5-Cdg	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Premature skin wrink...	ORPHA:263487
Cardiomyopathy, Familial Hypertrophic, 4	Chest pain, Sudden cardiac death, Myopathy	OMIM:115197
Xeroderma Pigmentosum, Complementation Group F	Erythema, Numerous pigmented freckles, Tremor, Freckling, Ataxia, Cutaneous photosensitivity, Bra...	OMIM:278760
Congenital Myopathy 17	Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Myopathy, Distal arthrogrypos...	OMIM:618975
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Foot dorsifle...	OMIM:164310
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Heparan sulfate excretion in urine, Splenomegaly, H...	OMIM:252930
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Failure to thriv...	ORPHA:2255
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr...	OMIM:615381
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatic ste...	OMIM:269700
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar vermis hypoplasia, Cerebellar atrophy, Cerebral atrophy, Cardiomyopathy, Dilated fourt...	ORPHA:572798
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemipares...	ORPHA:96
Localized Scleroderma	Skeletal muscle atrophy, Sclerosis of finger phalanx, Myopathy, Arthralgia, Flexion contracture	ORPHA:90289
Tonne-Kalscheuer Syndrome	Broad thumb, Brachydactyly, Congenital diaphragmatic hernia	OMIM:300978
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Blepharitis, Abnormality of neutrophils, Periodonti...	ORPHA:1775
Joubert Syndrome 6	Hepatic fibrosis, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Elongated superior cere...	OMIM:610688
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste...	ORPHA:64
Ehlers-Danlos Syndrome, Classic-Like, 1	Proximal amyotrophy, Arthralgia, Muscle fiber splitting	OMIM:606408
Congenital Sialidosis Type 2	Spasticity, Ascites, Abnormal heart morphology, Hepatosplenomegaly, Myoclonus, Petechiae, Dysmetr...	ORPHA:93400
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Fucosidosis	Spasticity, Vascular skin abnormality, Abnormality of the gallbladder, Cardiomegaly, Abnormal pyr...	ORPHA:349
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, Sp...	OMIM:615356
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatome...	OMIM:619433
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Gait ataxia, Cogwheel rig...	OMIM:600116
Scheie Syndrome	Hepatomegaly, Spastic paraparesis, Splenomegaly, Cerebral palsy	ORPHA:93474
Fanconi Anemia, Complementation Group P	Anemia, Pancytopenia	OMIM:613951
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Cerebral cortical atrophy, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	ORPHA:415
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Action tremor, Lingual dystonia, Hepatomegaly, Hypotriglyceridemia, Cerebral atrophy, Chorea, Hyp...	ORPHA:404454
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Fragile skin	OMIM:226600
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Kenny-Caffey Syndrome, Type 2	Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Spastic tetraplegia	OMIM:300886
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia	ORPHA:2143
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Cerebral atrophy, Gait ataxia, Myoclonus, Tremor, Rigidity, Dystonia, ...	OMIM:618877
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Spasticity, Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Splenomegaly, He...	ORPHA:163746
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:614582
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Patent foramen ovale, Aplasia of the thymus, Atrial septal defect, Prolonged neonatal jaundice, U...	OMIM:620186
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Peritonitis, Lymphadenopathy, Ataxia, Hepatomegaly, Acrocyanosis, Purpura, Urticaria	ORPHA:343
12Q14 Microdeletion Syndrome	Chiari malformation, Abnormality of the spleen, Tremor, Hyperpigmentation of the skin, Osteopoiki...	ORPHA:94063
Proteus-Like Syndrome	Irregular hyperpigmentation, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneo...	ORPHA:2969
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Congenital diaphragmatic hernia	ORPHA:370079
Sotos Syndrome	Muscular ventricular septal defect, Otitis media, Ventricular septal defect, Increased body weigh...	OMIM:117550
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome...	OMIM:219800
Congenital Generalized Lipodystrophy	Hypertrophic cardiomyopathy, Hepatic steatosis, Polycystic ovaries, Amenorrhea, Cirrhosis, Hyperc...	ORPHA:528
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Congenital diaphragmatic ...	ORPHA:1120
Martinez-Frias Syndrome	Extrahepatic biliary duct atresia, Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gal...	OMIM:601346
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Ventricular ...	ORPHA:436252
Alg9-Cdg	Periportal fibrosis, Hypoplasia of the bladder, Right ventricular dilatation, Abnormal heart morp...	ORPHA:79328
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Cerebral atrophy, Hepatic steatosis, Cyanosis, L...	OMIM:261680
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Reticular hyperpigm...	OMIM:224230
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatomegaly, Bile duct proliferation...	OMIM:607361
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Recurrent otitis media, Heparan sulfate excretion in urine, Hepatosplenomega...	OMIM:309900
Cooper-Jabs Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Camptodactyly of finger	ORPHA:1488
D-Bifunctional Protein Deficiency	Fetal ascites, Increased circulating very long-chain fatty acid concentration, Elevated circulati...	OMIM:261515
Gillessen-Kaesbach-Nishimura Syndrome	Flexion contracture, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metaphyseal wi...	OMIM:263210
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease	OMIM:612284
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating ...	ORPHA:91500
Thyroid Hemiagenesis	Hyperparathyroidism, Jaundice	ORPHA:95719
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts	OMIM:616307
Autoinflammatory Disease, Systemic, X-Linked	Panuveitis, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymphocytopenia, Pa...	OMIM:301081
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Involuntary movements, Osteopenia, Increased circulatin...	ORPHA:438213
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia	OMIM:619699
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Myoclonus, Distal sensory impairment, Rigidity, Dystonia, Babinsk...	OMIM:606693
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Cardiomyopathy	ORPHA:85447
Hurler-Scheie Syndrome	Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in urine, Hepatomega...	OMIM:607015
Metachromatic Leukodystrophy, Adult Form	Spasticity, Decerebrate rigidity, Chorea, Cholecystitis, Progressive gait ataxia, Progressive spa...	ORPHA:309271
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Small hand, Elbow flexion contracture, Knee flexion contracture, Hip contracture, Arachnodactyly,...	ORPHA:371364
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Reduced subcutaneous adipose tissue, Death in infancy, Anemia, Pancreatic ...	OMIM:609069
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Pericardial And Diaphragmatic Defect	Chest pain, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm	ORPHA:2847
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Global brain atrophy, Frontotemporal cerebral atrophy, Re...	OMIM:612953
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Abnormal thumb morphology, Congenital diaphragmatic hernia, Brachydacty...	ORPHA:94065
Refsum Disease, Classic	Somatic sensory dysfunction, Cardiomyopathy, Elevated circulating phytanic acid concentration, Ca...	OMIM:266500
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Spasticity, Elevated circulating hepat...	OMIM:618329
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, Tremor, Babinski sign...	OMIM:616539
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Elevated circulating as...	OMIM:620609
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Ectodermal dysplasia	OMIM:613576
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent fo...	OMIM:618652
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites	ORPHA:139411
13Q12.3 Microdeletion Syndrome	Camptodactyly, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia	ORPHA:412035
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Right ventricular hypertrophy, Patent foramen ovale, Abnormal tr...	ORPHA:555874
Gastrointestinal Stromal Tumor	Anemia, Abnormality of the liver	ORPHA:44890
O'Sullivan-Mcleod Syndrome	Eosinophilia, Atrophy of the spinal cord, Tremor, Fasciculations	ORPHA:99965
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Intrauterine growth retardation, Leukopenia, Postnatal growth retard...	OMIM:615190
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebral cortical atrophy, Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Fasciculati...	OMIM:620327
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Decreased body mass index, Failure to th...	ORPHA:586
Hennekam Syndrome	Erysipelas, Ascites, Lymphopenia, Horseshoe kidney, Hypocalcemia, Splenomegaly, Lymphadenopathy, ...	ORPHA:2136
Camurati-Engelmann Disease	Anemia, Bone marrow hypocellularity, Reduced subcutaneous adipose tissue	OMIM:131300
Adrenomyeloneuropathy	Spasticity, Abnormal libido, Male sexual dysfunction, Lip hyperpigmentation, Progressive spastic ...	ORPHA:139399
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Failure to thrive, Tetralogy of Fallot, Muscular ventricular septal defect, Hyp...	OMIM:210710
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Ascites, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Cardio...	OMIM:261740
Fanconi Anemia	Hypopigmented skin patches, Cryptorchidism, Atrial septal defect, Decreased fertility in males, P...	ORPHA:84
Glycerol Kinase Deficiency	Muscular dystrophy, Myalgia, Myopathy, Hypertriglyceridemia, Hyperglycerolemia	OMIM:307030
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect...	OMIM:251260
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia	ORPHA:95706
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Splenomegaly, Mucopolysacchariduria, Recurrent respiratory infections	ORPHA:584
Opsismodysplasia	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:2746
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Dry skin, Postnatal gr...	OMIM:617827
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, El...	OMIM:620005
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal femur morphology, Congenital diaphragmatic hernia, Abnormal fibula morphology	ORPHA:2063
Trisomy 8P	Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Cryptorchidism, Hetero...	ORPHA:264450
Thyroid Hypoplasia	Jaundice, Thyroid hypoplasia	ORPHA:95720
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hypocalcemia, Ventricular septal defect, Cerebellar hypoplasi...	OMIM:300712
Musculocontractural Ehlers-Danlos Syndrome	Slender finger, Decreased muscle mass, Myopathy, Arthrogryposis multiplex congenita, Tapered finger	ORPHA:2953
Usher Syndrome	Myopathy	ORPHA:886
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Shoulder flexion contracture, Micromelia, Skeletal muscle hypertrophy, M...	ORPHA:800
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated gamma-glutamyltransferase level, Exocrine pancreatic insufficiency, Intrauterine growth ...	OMIM:618500
Camurati-Engelmann Disease	Craniofacial osteosclerosis, Hypertrophic cardiomyopathy, Hypogonadism, Leukopenia, Hyperostosis,...	ORPHA:1328
Tick-Borne Encephalitis	Tongue fasciculations, Abnormal medulla oblongata morphology, Elevated circulating hepatic transa...	ORPHA:297
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu...	ORPHA:98914
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu...	ORPHA:590
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Triphalangeal thumb, EMG: myopathic abnormalities, Preaxial hand...	ORPHA:2549
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Talipes equinovarus, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy	OMIM:614557
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Leukocytosis, Hepatic steatosis, Abdominal obesity, Micropenis, Azotemia	OMIM:619321
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Lymphatic Malformation 7	Anemia, Ascites	OMIM:617300
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Zollinger-Ellison Syndrome	Erythema, Hyperparathyroidism, Pituitary adenoma, Pituitary prolactin cell adenoma, Pituitary gro...	ORPHA:913
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Increased circulating lactate dehydrogenase concentration, Failure to thrive, Oligosacchariduria,...	ORPHA:308552
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Rigidity, Opisthotonus, Hepatomegaly, Dystonia,...	OMIM:231670
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Congenital diaphragmatic hernia	ORPHA:250999
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Tremor, Rigidity, D...	OMIM:300894
Fanconi-Bickel Syndrome	Osteopenia, Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentrati...	ORPHA:2088
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Premature skin wrinkling, Abnormal heart valve morphology, Large for gesta...	ORPHA:363705
Melas	Exercise intolerance, Ragged-red muscle fibers, Myopathy, Abnormal mitochondria in muscle tissue	ORPHA:550
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Metacarpal periosteal thickening, Fatigue, Achilles tendon calcification, Hype...	OMIM:617994
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Failure to ...	OMIM:600001
Acute Transverse Myelitis	Impaired vibratory sensation, Spasticity, Somatic sensory dysfunction, Priapism, Dissociated sens...	ORPHA:139417
Zaki Syndrome	Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ...	OMIM:619648
Doors Syndrome	Thrombocytosis	ORPHA:79500
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Postnatal growth retardation, Short stature, Small for gestational age	OMIM:613320
Stevens-Johnson Syndrome	Erythema, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Pancrea...	ORPHA:36426
Rat-Bite Fever	Sepsis, Lymphadenitis, Abdominal aseptic abscess, Pancreatitis, Anemia	ORPHA:31205
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Tremor, Elevated circula...	OMIM:614298
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Abnormal muscle fiber morphology, Lower limb muscle weakness, Hypomagnesemi...	ORPHA:79102
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Increased circulating prolactin concentration, Limb ataxia, Dysmetria, Di...	OMIM:617675
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor fun...	ORPHA:98773
Hurler Syndrome	Spastic paraparesis, Cardiomyopathy, Cerebral palsy, Abnormal heart valve morphology, Endocardial...	ORPHA:93473
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere...	OMIM:608768
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Multiple lentigines, Cryptorchidism, Ventricular septal defect, Hype...	OMIM:607721
Developmental And Epileptic Encephalopathy 95	Cerebral cortical atrophy, Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Cerebell...	OMIM:618143
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Ventricular septal defect,...	OMIM:616897
Cockayne Syndrome A	Irregular menstruation, Pigmentary retinopathy, Cerebellar atrophy, Progeroid facial appearance, ...	OMIM:216400
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma, Flushing	ORPHA:276621
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Aplasia of the left hemidiaphragm, 2-3 fin...	ORPHA:2437
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Myoclonus, Patent foramen ovale, Left ven...	OMIM:619167
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymu...	OMIM:617022
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections	OMIM:300291
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Dyskeratosis Congenita, Autosomal Recessive 3	Bone marrow hypocellularity, Pancytopenia, Abnormality of skin pigmentation	OMIM:613988
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Elevated circulating hepatic transaminase concentration, Hypogonadism, Cryptorchidism...	OMIM:614231
Leigh Syndrome	Hyperalaninemia, Skeletal muscle atrophy, Multiple joint contractures, Myopathy	ORPHA:506
Chromomycosis	Keratitis, Vascular skin abnormality, Keratoconjunctivitis sicca, Lymphangiectasis, Recurrent bac...	ORPHA:182
Spastic Paraplegia 9B, Autosomal Recessive	Cerebral cortical atrophy, Spasticity, Spastic paraplegia, Pseudobulbar paralysis, Tremor, Babins...	OMIM:616586
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Telangiectasia of the skin, Recurrent bacter...	ORPHA:2176
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture, Elevated circula...	OMIM:613154
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Parkinsoni...	OMIM:137440
Mucopolysaccharidosis Type 3	Vocal cord paresis, Pigmentary retinopathy, Central nervous system degeneration, Spasticity, Recu...	ORPHA:581
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Hepatic steatosis, Hypertriglyceridemia, Hepatomegaly, Increased C-peptid...	OMIM:615238
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia, Brachydactyly, Cl...	ORPHA:1001
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Abnormal heart morpholo...	OMIM:615873
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Combined Oxidative Phosphorylation Deficiency 12	Bradykinesia, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Spastic...	OMIM:614924
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Tetrasomy 9P	Recurrent urinary tract infections, Horseshoe kidney, Absent gallbladder, Glue ear, Abnormal mitr...	ORPHA:3310
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Cerebellar atrophy, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torti...	OMIM:128100
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Finger syndactyly, Congenital diaphragmatic hernia, Hand polydact...	ORPHA:1647
Cantu Syndrome	Congenital hypertrophy of left ventricle, Large for gestational age, Cardiomegaly, Bicuspid aorti...	OMIM:239850
Blau Syndrome	Nephropathy, Posterior uveitis, Erythema, Keratitis, Abnormality of the liver, Stage 5 chronic ki...	ORPHA:90340
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepatic steatosis, Splen...	OMIM:608594
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Skeletal muscle atrophy, Myopathy	ORPHA:109
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Pituitary hypothyroidism, Hypopituitarism, Decreased response to gro...	ORPHA:226307
Histiocytoid Cardiomyopathy	Failure to thrive, Pallor, Cyanosis, Polycystic ovaries, Cardiomegaly, Ventricular septal defect,...	ORPHA:137675
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoamylasemia, Decreased circulating lipoprotein lipase concentration, Absent gallbladder, Reduc...	ORPHA:556955
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration	OMIM:175780
Alstrom Syndrome	Irregular menstruation, Pigmentary retinopathy, Elevated circulating hepatic transaminase concent...	OMIM:203800
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Stromme Syndrome	Myopathy, Preaxial polydactyly	OMIM:243605
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Darier Disease	Hypermelanotic macule, Abnormality of skin pigmentation	ORPHA:218
Cardiomyopathy, Familial Hypertrophic, 27	Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, E...	OMIM:618052
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Failure to thrive, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomy...	OMIM:252010
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Genitopalatocardiac Syndrome	Brachydactyly, Congenital diaphragmatic hernia, Postaxial hand polydactyly	ORPHA:2075
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:626
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Camptodactyly of finger, Elbow flexion contracture...	ORPHA:1692
Menkes Disease	Spasticity, Spontaneous hematomas, Chorea, Hypertonia, Prolonged neonatal jaundice, Osteoporosis,...	ORPHA:565
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Polysplenia, Cardiomyopathy...	OMIM:312870
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneou...	OMIM:147060
Dyskeratosis Congenita, Autosomal Recessive 6	Cerebellar hypoplasia, Bone marrow hypocellularity, Abnormality of skin pigmentation, Ataxia	OMIM:616353
Craniorachischisis	Sirenomelia, Congenital diaphragmatic hernia	ORPHA:63260
Alpha-Mannosidosis, Infantile Form	Asthenia, Genu valgum, Myopathy, Cortical thickening of long bone diaphyses, Bilateral coxa valga...	ORPHA:309282
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Endocrine-Cerebroosteodysplasia	Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys	OMIM:612651
Akt2-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Oligomenorrhea, Hypertriglyceridemia, Hepatomegaly	ORPHA:79085
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia	ORPHA:1915
Trisomy 1Q	Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Congenital diaphragmatic hern...	ORPHA:261344
Proteus Syndrome	Long penis, Thymus hyperplasia, Vascular skin abnormality, Neoplasm of the thymus, Splenomegaly, ...	ORPHA:744
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Cyanosis, Abnormality of skin pigmentation	OMIM:240200
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Hyperammonemia, Elevated circulating creatine k...	ORPHA:480864
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Congenital diaphragmatic hernia, Talipes equinovarus, Achilles ten...	ORPHA:363528
Cockayne Syndrome B	Pigmentary retinopathy, Progeroid facial appearance, Cerebral atrophy, Splenomegaly, Reduced subc...	OMIM:133540
Acro-Renal-Mandibular Syndrome	Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Congenital diaphragmatic her...	ORPHA:958
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Ataxia-Telangiectasia-Like Disorder 2	Congenital diaphragmatic hernia, Joint contracture	OMIM:615919
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Elbow flexion contracture, Muscle fiber atrophy, Limb muscle weakness, Tal...	ORPHA:1900
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Telangiectasia of the skin, Seborrheic derma...	ORPHA:276280
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Anhidrotic ec...	OMIM:612132
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Pancreatitis, Oligomenorrhea, Hypertriglyceridemia, Hepato...	ORPHA:435651
Multiple Endocrine Neoplasia, Type Iib	Proximal femoral epiphysiolysis, Myopathy	OMIM:162300
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma, Flushing	ORPHA:29072
Trisomy 10P	Abnormal heart morphology, Intrauterine growth retardation, Absent gallbladder, Growth delay, Sma...	ORPHA:171929
Citrullinemia, Classic	Reduced tissue argininosuccinate synthetase activity, Hyperammonemia, Hyperglutaminemia, Cirrhosi...	OMIM:215700
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Premature graying of hair, Reduced subcutaneous adipose...	ORPHA:1979
Dpagt1-Cdg	Cerebral cortical atrophy, Elevated circulating hepatic transaminase concentration, Global brain ...	ORPHA:86309
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Recurrent aspiration pneumonia, Septic arthritis, Bruising susceptibility...	ORPHA:642
Kallmann Syndrome	Breast hypoplasia, Decreased testicular size, Paraplegia, Decreased fertility, Cryptorchidism, Tr...	ORPHA:478
Native American Myopathy	Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Talipes equinovarus, Campt...	ORPHA:168572
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Ureteropelvic junction obstruction, Atrial septal defect, Recurrent ...	OMIM:300896
Timothy Syndrome	Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly	OMIM:601005
Chromosome 1Q41-Q42 Deletion Syndrome	Talipes equinovarus, Sandal gap, Congenital diaphragmatic hernia, 3-4 finger cutaneous syndactyly	OMIM:612530
Occipital Horn Syndrome	Osteopenia, Rickets, Bruising susceptibility, Hepatitis, Osteomalacia, Cholestasis, Osteoporosis,...	ORPHA:198
Behçet Disease	Orchitis, Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, Infectious encephalit...	ORPHA:117
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Elevated circulating hepatic transaminase concentration, Rickets, Elevated circulat...	OMIM:616026
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Congenital diaphragmatic hernia, Camptodactyly of finger	ORPHA:2311
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Increased circulating prolactin concentration, Decreased fertility ...	ORPHA:91347
Esophageal Atresia	Failure to thrive in infancy, Tetralogy of Fallot, Pallor, Cyanosis, Ventricular septal defect, G...	ORPHA:1199
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Seckel Syndrome 9	Talipes equinovarus, Congenital diaphragmatic hernia	OMIM:616777
Emanuel Syndrome	Joint contracture, Congenital diaphragmatic hernia, Torticollis	OMIM:609029
Arima Syndrome	Hepatic fibrosis, Cerebellar vermis hypoplasia, Dilated fourth ventricle, Hepatic steatosis, Anem...	OMIM:243910
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Sotos Syndrome	Cerebellar vermis hypoplasia, Hypopigmentation of the skin, Cerebral atrophy, Abnormal heart morp...	ORPHA:821
Ctcf-Related Neurodevelopmental Disorder	Sepsis, Failure to thrive, Phimosis, Atrial septal defect, Prolonged neonatal jaundice, Recurrent...	ORPHA:363611
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Telangiectasia, Hepatic arteriovenous malformation	OMIM:175050
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Tetralogy of Fallot, Absent gallbladder, Complete atrioventricular canal defect, Decreased calvar...	OMIM:617925
Zttk Syndrome	Spasticity, Absent gallbladder, Ventricular septal defect, Cerebellar hypoplasia, Atrial septal d...	OMIM:617140
Thyroid Ectopia	Dry skin, Lingual thyroid, Short stature, Jaundice, Growth delay, Ectopic thyroid	ORPHA:95712
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation	OMIM:225050
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Diaphragmatic eventration	OMIM:222448
Prolactinoma	Secondary growth hormone deficiency, Pallor, Adrenocorticotropic hormone deficiency, Delayed pube...	ORPHA:2965
Matthew-Wood Syndrome	Congenital diaphragmatic hernia	ORPHA:2470
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Alternating Hemiplegia Of Childhood	Flushing, Pallor, Failure to thrive, Cardiomyopathy	ORPHA:2131
Meckel Syndrome, Type 4	Ventricular septal defect, Atrial septal defect, Agenesis of cerebellar vermis, Bile duct prolife...	OMIM:611134
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Pericardial effusion, Splenomegaly, Generalize...	OMIM:181000
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Patent foramen ov...	OMIM:610505
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Decreased body weight, Cardiomegaly,...	OMIM:620371
Cushing Disease	Poor wound healing, Bruising susceptibility, Increased urinary cortisol level, Lymphopenia, Dorso...	ORPHA:96253
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Rhizomelia, Sandal gap, Flared metaphysis, Elbow flexion contracture, Genu v...	OMIM:245600
Multiple Pterygium Syndrome, Escobar Variant	Ulnar deviation of finger, Dislocated radial head, Congenital diaphragmatic hernia, Knee flexion ...	OMIM:265000
Congenital Heart Defects And Skeletal Malformations Syndrome	Sandal gap, Congenital diaphragmatic hernia, Arachnodactyly, Camptodactyly, Clinodactyly of the 5...	OMIM:617602
8P23.1 Microdeletion Syndrome	Broad thumb, Congenital diaphragmatic hernia, Proximal placement of thumb, Broad hallux phalanx, ...	ORPHA:251071
Wolfram Syndrome	Myopathy	ORPHA:3463
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia	ORPHA:1834
Cystic Fibrosis	Cor pulmonale, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosi...	OMIM:219700
Glycogen Storage Disease Due To Acid Maltase Deficiency	Exercise intolerance, Lower limb muscle weakness, Chronic pain, EMG: myopathic abnormalities, Ele...	ORPHA:365
Proximal 16P11.2 Microdeletion Syndrome	Hand polydactyly, Congenital diaphragmatic hernia	ORPHA:261197
Japanese Encephalitis	Hyponatremia, Meningitis, Infectious encephalitis, Neutrophilia	ORPHA:79139
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia	ORPHA:2409
Argininosuccinic Aciduria	Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, ...	OMIM:207900
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c...	ORPHA:1329
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Incontinentia Pigmenti	Erythema, Cerebral cortical atrophy, Irregular hyperpigmentation, Spasticity, Hypopigmented skin ...	ORPHA:464
Halperin-Birk Syndrome	Talipes equinovarus, Flexion contracture, Congenital diaphragmatic hernia	OMIM:618651
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Cardiomegaly, Abnormal bone ossification, Abnormal thymus morphology, Subcortical cer...	ORPHA:2463
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Abnormal circulating biopterin concentration, Abnormal circulating...	OMIM:612716
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Abnorm...	ORPHA:199351
Tay-Sachs Disease	Pallor	OMIM:272800
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Emanuel Syndrome	Congenital diaphragmatic hernia, Multiple joint contractures	ORPHA:96170
Hennekam-Beemer Syndrome	Mastocytosis, Erythema, Irregular hyperpigmentation, Generalized hyperpigmentation, Telangiectasi...	ORPHA:2135
Steinfeld Syndrome	Abnormal heart morphology, Absent gallbladder	OMIM:184705
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal heart v...	ORPHA:3384
Kyphoscoliotic Ehlers-Danlos Syndrome	Arachnodactyly, Talipes equinovarus, Skeletal muscle atrophy, Myopathy	ORPHA:536545
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci...	ORPHA:75565
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Olivopontocerebellar atrophy, Rigidity, Tremor, Babinski sign, Parkinsonism, A...	OMIM:146500
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Progeroid facial appearance, Patent fora...	OMIM:619127
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia	OMIM:611812
Vacterl/Vater Association	Finger syndactyly, Aplasia/Hypoplasia of the radius, Congenital diaphragmatic hernia, Preaxial ha...	ORPHA:887
Oligomeganephronia	Elevated circulating creatinine concentration, Congenital diaphragmatic hernia	ORPHA:2260
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Hydroureter, Failure to thrive, Recurrent respiratory infections, Eczematoid dermatitis...	ORPHA:2273
White-Sutton Syndrome	Facial hypotonia, Broad thumb, Brachydactyly, Congenital diaphragmatic hernia	OMIM:616364
Cutis Laxa, Autosomal Recessive, Type Ia	Arachnodactyly, Congenital diaphragmatic hernia	OMIM:219100
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Camptodactyly of finger,...	ORPHA:2092
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Dubowitz Syndrome	Cutis marmorata, Cryptorchidism, Hypoparathyroidism, Thrombocytopenia, Abnormality of skin pigmen...	ORPHA:235
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Pallor, Reduced subcutane...	ORPHA:653
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno...	ORPHA:3440
Acrorenal-Mandibular Syndrome	Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Rudimentary to absent tibiae, Cong...	OMIM:200980
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia	ORPHA:1780
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Spasticity, Global brain atrophy, Chiari malformation, Abnormal heart morphology, Absent gallblad...	ORPHA:500150
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Global brain atrophy, Cerebellar atrophy, Secundum atrial septal defect, Partial atrioventricular...	OMIM:620066
Microform Holoprosencephaly	EMG: myopathic abnormalities	ORPHA:280200
Ring Chromosome 13 Syndrome	Abnormality of skin pigmentation, Cafe-au-lait spot, Hypoplasia of the gallbladder	ORPHA:96176
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder	ORPHA:3186
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia	OMIM:313850
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Flexion contracture, Hip contracture, Myopathy	ORPHA:3042
Dermatomyositis	Myalgia, Inflammatory myopathy, Elevated circulating creatine kinase concentration, Myositis, Gan...	ORPHA:221
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Unroofed coronary sinus, Recurrent bacterial infections, Right atrial enlarg...	ORPHA:99104
Scorpion Envenomation	Erythema, Increased circulating lactate dehydrogenase concentration, Priapism, Hemifacial spasm, ...	ORPHA:466677
Wrinkly Skin Syndrome	Atrial septal dilatation, Cerebellar vermis hypoplasia, Osteopenia, Slurred speech, Prominent vei...	ORPHA:2834
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Congenital diaphragmatic hernia, Brachydactyly, Clinodactyly of the...	OMIM:304110
Peters-Plus Syndrome	Rhizomelia, Disproportionate short-limb short stature, Postnatal growth retardation, Intrauterine...	OMIM:261540
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Speech apraxia, Left ventricular noncompaction cardiomyopathy, Cr...	OMIM:300967
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Chorea, Right ventricular hypertrophy, Elevated circulating creatine kinase concent...	ORPHA:268
Familial Aortic Dissection	Cardiomegaly, Cutis marmorata	ORPHA:229
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact...	OMIM:154400
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Intrauterine growth retardation, Fragile skin, Cardiomyopathy	ORPHA:158687
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets	OMIM:614473
Mycophenolate Mofetil Embryopathy	Foot polydactyly, Congenital diaphragmatic hernia, Short palm	ORPHA:268249
Mosaic Variegated Aneuploidy Syndrome	Ascites, Aplasia/Hypoplasia of the cerebellum, Subvalvular aortic stenosis, Atrial septal defect,...	ORPHA:1052
Arterial Tortuosity Syndrome	Arachnodactyly, Flexion contracture, Congenital diaphragmatic hernia	OMIM:208050
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Double Outlet Left Ventricle	Failure to thrive, Cryptorchidism, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pu...	ORPHA:3427
Congenital Tracheomalacia	Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Cyanosis, Ventricular septal d...	ORPHA:95430
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Micromelia, Congenital diaphragmatic hernia, Preaxial polydactyly	OMIM:616546
Fryns Syndrome	Clinodactyly of the 5th finger, Short distal phalanx of finger, Congenital diaphragmatic hernia	ORPHA:2059
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia	ORPHA:468678
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Elevated amniotic fluid alpha-fetopro...	OMIM:249000
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Meckel Syndrome, Type 2	Bile duct proliferation, Dandy-Walker malformation	OMIM:603194
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Diaphragmatic eventration	OMIM:601186
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Short distal phalanx of finger, Congenital diaphragmatic hernia	OMIM:614080
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis, Abnormal mitral valve morphology, Recurrent bacterial infections, Right atri...	ORPHA:99103
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia	OMIM:267000
Occipital Horn Syndrome	Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased circulating ceruloplasmin c...	OMIM:304150
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Arachnodactyly, Arthralgia, Camptodactyly, Chronic fatigue	OMIM:619656
1P36 Deletion Syndrome	Camptodactyly of finger, Clinodactyly of the 5th finger, Myopathy, Brachydactyly, Foot polydactyl...	ORPHA:1606
Cornelia De Lange Syndrome 1	Finger aplasia, Micromelia, Elbow flexion contracture, Hypoplastic radial head, Congenital diaphr...	OMIM:122470
Plague	Inflammation of the large intestine, Sepsis, Lymphadenitis, Chapped lip, Enlarged mesenteric lymp...	ORPHA:707
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Abnormal circulating biopterin concentration, Hypomagnesemia, ...	ORPHA:1578
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Congenital diaphrag...	ORPHA:2911
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short foot, Congenital diaphragmati...	OMIM:618454
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Intrauterine growth retardation, Cryptorchidism, Ventricular septal...	ORPHA:96191
Trisomy 18	Postaxial hand polydactyly, Deviation of finger, Congenital diaphragmatic hernia, Camptodactyly o...	ORPHA:3380
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Radioulnar synostosis, Camptodactyly, Clinodactyly of the 5th fi...	ORPHA:1272
Cantú Syndrome	Cardiomegaly, Osteoporosis, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Iniencephaly	Rhizomelia, Congenital diaphragmatic hernia, Talipes equinovarus, Rocker bottom foot, Arthrogrypo...	ORPHA:63259
Smith-Lemli-Opitz Syndrome	Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna...	ORPHA:818
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Short toe, Camptodactyly of finger, Clinodactyly ...	ORPHA:373
Distal Deletion 15Q	2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Small hand, Finger clinodactyly, Sh...	ORPHA:1596
Meacham Syndrome	Congenital diaphragmatic hernia	ORPHA:3097
Limb Body Wall Complex	Broad hallux, Aplasia of the proximal phalanges of the hand, Cutaneous finger syndactyly, Diastas...	ORPHA:2369
Pagod Syndrome	Sudden cardiac death, Congenital diaphragmatic hernia	ORPHA:991
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Holoprosencephaly	Hyponatremia, Hand polydactyly, Brachydactyly, Congenital diaphragmatic hernia	ORPHA:2162
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Clinodactyly, Broad hallux, Contracture of the proximal interphalangeal joint of the ...	OMIM:301044
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Facial palsy, Congenital diaphragmatic hernia, Polydactyly	OMIM:301022
Absence Of The Pulmonary Artery	Tetralogy of Fallot, Abnormal heart morphology, Cyanosis, Patent foramen ovale, Truncus arteriosu...	ORPHA:980
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Talipes equinovarus, Agenesis of the diaphragm...	OMIM:236680
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Long fingers	ORPHA:96121
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets	OMIM:208000
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia	OMIM:309801
Monosomy 9P	Abnormality of the tarsal bones, Proximal placement of thumb, Congenital diaphragmatic hernia, Po...	ORPHA:261112
Lymphangioleiomyomatosis	Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy, Ab...	ORPHA:538
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia	OMIM:618846
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Wolf-Hirschhorn Syndrome	Short thumb, Preaxial hand polydactyly, Congenital diaphragmatic hernia, Arachnodactyly, Talipes ...	ORPHA:280
Kabuki Syndrome	Short 5th finger, Small hand, Congenital diaphragmatic hernia, Short middle phalanx of finger	ORPHA:2322
Kindler Epidermolysis Bullosa	Anemia, Erythema, Cutaneous photosensitivity, Abnormality of skin pigmentation	ORPHA:2908
Yunis-Varon Syndrome	Cardiomyopathy, Tetralogy of Fallot, Postnatal growth retardation, Cryptorchidism, Redundant neck...	ORPHA:3472
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia	ORPHA:2745
C Syndrome	Toe syndactyly, Micromelia, Congenital diaphragmatic hernia, Hand polydactyly, Aplasia/Hypoplasia...	ORPHA:1308
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ...	ORPHA:733
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, Cutis marmorata, Bruising susceptibility	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
Focal Dermal Hypoplasia	Finger aplasia, Toe syndactyly, 3-4 finger syndactyly, Short finger, Foot oligodactyly, Diastasis...	OMIM:305600
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Short thumb, Clinodactyly, Radial deviation of finger, Overlapping to...	OMIM:613406
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Hypoplasia of the diaphragm, Arachnodactyly, Bowing of the long ...	OMIM:614437
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia	OMIM:273395
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corpor...	ORPHA:79280
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Congenital diaphragmatic hernia, Brachydactyly, Tarsal synostosis, Short foot	OMIM:157800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Chronic Graft Versus Host Disease	Erythema, Elevated circulating hepatic transaminase concentration, Poor wound healing, Ascites, P...	ORPHA:99921
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Short 1st metacarpal, Micromelia, Oligodactyly, Congenital diaphragma...	ORPHA:199
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Osteomalacia, Ascites, Hypophosphatemic rickets, Myocardial calcificatio...	ORPHA:51608
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia	ORPHA:2556
Coffin-Siris Syndrome 1	Sandal gap, Prominent fingertip pads, Short distal phalanx of the 5th toe, Congenital diaphragmat...	OMIM:135900
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Decreased body weight, Cardiomegaly, Mitral va...	OMIM:182250
Pallister-Killian Syndrome	Rhizomelia, Small hand, Postaxial foot polydactyly, Camptodactyly of 2nd-5th fingers, Short toe, ...	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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