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Gene: Uros MGI:98917

Gene Summary

Name:

uroporphyrinogen III synthase

Synonyms:

hydroxymethylbilane hydrolyase (cyclizing), uroporphyrinogen-III synthase, Uros3, URO-synthase

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased leukocyte cell number		Uros^{tm1a(EUCOMM)Wtsi}	HET		Early adult	4.18×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Uros 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 Uros (2 diseases)
Human diseases predicted to be associated with Uros (1247 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Porphyria, Congenital Erythropoietic		Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Ost...	OMIM:263700
Congenital Erythropoietic Porphyria		Osteopenia, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Erythrodontia...	ORPHA:79277

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

Disease	Matching phenotypes	Source
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level	ORPHA:32
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Glomerulopathy, Acne, Proteinuria, Increased ...	ORPHA:77297
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Glyoxalase deficiency, Reduced glutathione synthetase level	OMIM:231900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase...	OMIM:224120
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas...	ORPHA:232
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Micrognathia, Flexion contracture, Renal hypoplasia, Lacticaciduria, ...	OMIM:604273
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent...	OMIM:210250
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo...	ORPHA:288
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele...	OMIM:232800
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat...	OMIM:614034
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Hemolytic anemia, Jaundice	OMIM:301015
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Recurrent fractures, Hepatomegaly	ORPHA:417
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Cystic acne...	OMIM:604416
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Decreas...	ORPHA:54057
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia	OMIM:266130
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Atypical Hemolytic Uremic Syndrome	Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Porphyria, Acute Hepatic	Hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:612740
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Limitation of joint ...	ORPHA:108
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Hereditary Coproporphyria	Dark urine, Porphyrinuria, Increased urinary porphobilinogen, Limb pain, Hepatocellular carcinoma...	ORPHA:79273
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromi...	ORPHA:440713
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Ost...	OMIM:263700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Gingivitis, Premature loss of teeth,...	OMIM:618107
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Orotic Aciduria	Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner...	ORPHA:848
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Hypochromic microcytic anemia, Arthritis, Septic arthritis	OMIM:619423
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Delayed skeletal maturation, Hypochromic microcytic anemia, Mild proteinuria...	OMIM:619147
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Skin rash, Proteinuria, Discoid lupus rash, Oral ulcer, Malar ra...	ORPHA:93552
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre...	OMIM:613313
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Microgn...	OMIM:259720
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Hypochromic...	ORPHA:66634
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure	OMIM:177000
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatosplenomegaly, ...	ORPHA:96123
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash	ORPHA:90036
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver	ORPHA:234
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Jaund...	ORPHA:905
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep...	OMIM:618805
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi...	ORPHA:54028
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Erythrodontia...	ORPHA:79277
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Bone pain, Leukopenia, Avascular necrosis, Biliary tract obstruction,...	ORPHA:77259
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Anemia of inadequate production, Carious teeth, Splenomegaly...	OMIM:612714
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase	ORPHA:75563
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Recurrent bacterial skin infections, Erythrodontia, Pruritus, Splen...	ORPHA:95159
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Joint hy...	OMIM:619013
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac...	ORPHA:398124
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J...	OMIM:603552
Mitochondrial Dna Depletion Syndrome 18	Lacticaciduria, Tongue fasciculations, Microcytic anemia	OMIM:618811
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Thrombocytopenia	OMIM:152700
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recu...	OMIM:618935
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,...	ORPHA:300298
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, U-Shaped upper lip vermilion, Hypospadias, Renal agenesis, Protruding tong...	OMIM:301040
Barth Syndrome	Mandibular prognathia, Cyclic neutropenia, Hypochromic microcytic anemia, 3-Methylglutaconic acid...	OMIM:302060
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Microcytic anemia, Deep philtrum, Hepatosplenomegaly, Lymphadenopathy, Hig...	OMIM:619750
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati...	OMIM:610198
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Cholestasis, Progressive Familial Intrahepatic, 11	Pruritus, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:619874
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Port...	OMIM:619487
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Pruritus, Splenomegaly, Atretic g...	ORPHA:30391
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Dermatitis Herpetiformis	Recurrent fractures, Eczema, Microcytic anemia, Pruritus, Bone pain	ORPHA:1656
Immunodeficiency 104	Hepatomegaly, Eczema, Splenomegaly, Oral ulcer, Chronic mucocutaneous candidiasis, Lymphadenopath...	OMIM:608971
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Micrognathia, Microcytic anemia, Flexion contracture, High palate, Malar flattening,...	ORPHA:98791
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong...	OMIM:274150
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Lymphocytosis, Microscopic hematuria, Hepatic steatosis	ORPHA:79087
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Erythroderma, Hepatitis, L...	OMIM:304790
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis, Hypochromic microcytic anemia, Atopic dermatitis, Thrombocytopenia	ORPHA:3240
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Reduced circulating aldo...	ORPHA:57
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Skin rash, Oral ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Skin rash, Eosinophilia, Recurrent fractures, Persistence of primary teeth, Craniosyn...	OMIM:147060
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Bo...	ORPHA:37748
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep...	ORPHA:228305
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Micrognathia, High pa...	OMIM:600462
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Abnormal erythrocyte enzyme level, Increased urinary porphobilinogen, ...	ORPHA:100924
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ...	ORPHA:398063
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Micrognathia, Splenomegaly, Abnormali...	ORPHA:1046
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Thrombocy...	ORPHA:169090
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Blue Rubber Bleb Nevus	Bone pain, Skin rash, Microcytic anemia	ORPHA:1059
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Osteopenia, Multiple joint contractures,...	ORPHA:2959
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Aceruloplasminemia	Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,...	ORPHA:48818
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ...	ORPHA:53
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Bone pain, Anemia, Thrombocytopenia	OMIM:610539
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bone pain, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Mandibular osteomyelitis, Recurrent fractures	ORPHA:53697
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia	OMIM:230350
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Cari...	OMIM:259700
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Atopic dermatitis, ...	OMIM:619752
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepato...	OMIM:277900
Rotor Syndrome	Bilirubinuria, Pruritus, Jaundice, Intermittent jaundice, Porphyrinuria, Storage in hepatocytes	ORPHA:3111
Acatalasemia	Premature loss of permanent teeth, Severe periodontitis, Microcytic anemia, Oral ulcer, Gingiviti...	ORPHA:926
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste...	OMIM:608709
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Enamel-Renal Syndrome	Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam...	ORPHA:1031
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-...	ORPHA:228308
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Pruritus, Sp...	ORPHA:98849
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Leukopenia, High palate, Prominence of the zygomatic bone, Hepatomegaly, Persistenc...	ORPHA:2785
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hemoly...	OMIM:614727
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Skin rash, Joint stiffness, Splenomegaly, Mediastinal lymphadenop...	ORPHA:809
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Klippel-Trénaunay Syndrome	Hematuria, Hepatomegaly, Ascites, Microcytic anemia	ORPHA:90308
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Microcytic anemia, Macroglossia, 3-Methylglutaconic aciduria, Neutropeni...	OMIM:251900
H Syndrome	Psoriasiform dermatitis, Abnormality of the kidney, Recurrent fractures, Microcytic anemia, Cleft...	ORPHA:168569
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Pruritus, Microvesicular hepatic steatosis, Avascular necrosis ...	OMIM:619377
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Craniosynostosis, Abnormality of the dentition, Hypercalciuria, Inc...	OMIM:241500
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Glycogen accumulation in muscle fiber lysosomes, Exercise-in...	ORPHA:368
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ...	ORPHA:650
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Pathologic fracture, ...	OMIM:230800
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Abnormality of dental color, Recurrent fractures, Horseshoe kidney...	OMIM:163200
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Iron deficiency anemia, High palate, Hepatomegaly	OMIM:607906
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria...	OMIM:612925
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno...	ORPHA:79301
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Hartnup Disease	Abnormal urinary color, Skin rash, Gingivitis, Glossitis, Neutral hyperaminoaciduria	ORPHA:2116
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Recurre...	ORPHA:251004
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria	ORPHA:98895
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612926
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder	OMIM:607685
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Short philtrum, Hypochromic anemia, Microcytic anemia	OMIM:618451
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi...	ORPHA:37553
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Anemia	ORPHA:1802
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Hepatomegaly, Joint laxity, Grayish enamel, Carious teeth, Osteoporosis, W...	OMIM:253000
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612924
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Recurrent fractures, Splenomegaly, Hypercalciuria, Ami...	OMIM:239200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co...	OMIM:619048
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis	OMIM:618400
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Hepatomegaly, Joint laxity, Grayish enamel, Carious teeth, Joint stiffness...	OMIM:253010
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi...	OMIM:308240
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Familial Expansile Osteolysis	Bone pain, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Premature loss of teeth, Fragile t...	OMIM:174810
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Mazabraud Syndrome	Bone pain, Recurrent fractures	ORPHA:57782
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul...	ORPHA:157
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia	ORPHA:251393
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Thin skin, Acantholysis	ORPHA:455
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Proteinuria, Splenomegaly, Delayed sk...	ORPHA:77261
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased muscle lipid content	OMIM:610717
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Aminoaciduria, Elevated urinary formiminoglutamic acid le...	OMIM:229100
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Supernumerary tooth, Thin vermilion border, Ell...	ORPHA:86818
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Abnormal circulating enzyme concentration or activi...	ORPHA:51208
Monosomy 5P	Microretrognathia, Recurrent fractures, Joint hyperflexibility, High palate, Abnormality of bone ...	ORPHA:281
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Bone pain, Nephrolithiasis, Re...	ORPHA:18
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Blue Diaper Syndrome	Nephrocalcinosis, Blue urine, Elevated hepatic transaminase	ORPHA:94086
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Jaundice...	ORPHA:1667
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Srd5A3-Cdg	Elevated hepatic transaminase, Oligodontia, Microcytic anemia	ORPHA:324737
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Joint stiffness, Spl...	OMIM:620210
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Micrognathia, Intrahepatic cholestasis, Anisopoikilocytosis, A...	ORPHA:46059
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Microcytic anemia	OMIM:618972
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Variant Abeta2M Amyloidosis	Chronic kidney disease, Abnormality of the tongue, Hepatic amyloidosis, Renal amyloidosis, Wrist ...	ORPHA:314652
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Eczema, Microcytic anemia	OMIM:612379
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine	ORPHA:26792
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Osteopetrosis...	OMIM:620366
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Periodontitis, Hepatic steatosis, Tubuloint...	ORPHA:79259
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Osteoporosis, Lymphaden...	ORPHA:98848
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hepatic failure, Hepatic steatosis	OMIM:617872
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypoplasia of the tooth germ, Micrognathia, Microcytic anemia, Delayed skeletal maturation, Contr...	ORPHA:293967
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Combined Saposin Deficiency	Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly	OMIM:611721
Pycnodysostosis	Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima...	ORPHA:763
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Abnormal erythrocyt...	ORPHA:264580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Recurrent sk...	ORPHA:37042
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Hamamy Syndrome	Osteopenia, Thin upper lip vermilion, Recurrent fractures, Craniosynostosis, Micrognathia, Microc...	OMIM:611174
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Hy...	ORPHA:97283
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Micrognathia, Splenomegaly, Flexion contracture, Thin vermilion border, Joint contr...	OMIM:608540
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Hepatomegaly	OMIM:269840
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Micrognathia, Acanthocytosis, Flexion contracture, Elbow flexion contracture, ...	OMIM:618947
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619386
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Anemia	ORPHA:28
Hypophosphatasia	Craniosynostosis, Recurrent fractures, Anemia, Abnormality of the dentition	ORPHA:436
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumatoid arthri...	ORPHA:589
Wt Limb-Blood Syndrome	Pancytopenia, Micrognathia, Retrognathia, Radioulnar synostosis, Joint contracture of the 5th fin...	OMIM:194350
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Renal tubular acidosis, Oroticaciduria, Anemia	OMIM:616457
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Hepatocellul...	ORPHA:101330
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis, Bone pain, Nephrocalcinosis, Left ventricular hypertrophy	OMIM:616833
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El...	OMIM:235555
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Oral ulcer, Cheilitis...	ORPHA:536
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Micrognathia, Splenomegaly, Spherocytosis, High palate	ORPHA:251066
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Muckle-Wells Syndrome	Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Abnormal palate morphology, Nephr...	ORPHA:575
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Bone pain, Increased spinal bone density, Recurrent fractures, Tongue fasciculations	ORPHA:329475
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, S...	OMIM:617780
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb...	OMIM:226990
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Nephrotic syndr...	OMIM:617303
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Pathologic fracture, Thrombocytopenia	OMIM:112200
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Pancreatitis, Thrombocy...	ORPHA:27
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Eczema, Eosinophilia, Chronic mucocut...	OMIM:615816
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Idiopathic Copper-Associated Cirrhosis	Increased urinary copper concentration, Hepatic steatosis, Copper accumulation in liver, Cirrhosis	ORPHA:209919
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Chylomicron Retention Disease	Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis, Acanth...	ORPHA:71
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Osteolysis, Increased susceptibility to fractures, Pathologic fracture, Urinary bladder sphincter...	ORPHA:52430
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Pr...	OMIM:130060
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia	OMIM:226300
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic aciduria, Microcytic anemia	OMIM:612073
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth...	OMIM:269920
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Delayed skeletal maturation, Jaundice, Cholestasis, Reduced bone mine...	ORPHA:172
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Neutropenia, Decreased propor...	ORPHA:443811
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture	OMIM:614569
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ...	OMIM:616050
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Prolidase Deficiency	Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Micrognathia...	OMIM:170100
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, D...	ORPHA:582
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Joint hypermobility, Microg...	OMIM:300990
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Bone ...	ORPHA:666
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Recurrent urinary tract infections, Joint hypermobility, Carious teeth...	OMIM:619229
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis, Renal steatosis	OMIM:261650
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Thin skin, Advanced eruption of teeth, Hepatic steato...	ORPHA:2348
Acute Intermittent Porphyria	Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Increased urinary ...	ORPHA:79276
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Malar prominence, Hepatic steatosis, Micrognathia	ORPHA:436182
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Amme Complex	Hematuria, Thin upper lip vermilion, Elliptocytosis, Joint hypermobility	OMIM:300194
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Increased susceptib...	OMIM:612286
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Proteinuria, Abnormality of the kidney, ...	ORPHA:369
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome...	ORPHA:14
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc...	ORPHA:858
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Osteolysis involving bones...	ORPHA:73
Alpha-Mannosidosis	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Open bite, Splenomegaly, Delayed ...	ORPHA:61
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Skin rash, Chilblains, Hepatomegaly,...	OMIM:615846
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Eczema, Osteoporosis, Rickets, Iron deficiency ...	OMIM:212750
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Periodontitis, Avascular necrosis, Hepatom...	ORPHA:1775
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Splenomegaly, Delayed skeletal maturation, Osteoporosis, Stage...	OMIM:222700
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome...	ORPHA:699
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte mor...	ORPHA:2584
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function	OMIM:616829
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Osteopenia, Skin rash, Aplastic anemia, Selective tooth agenesis, Abno...	ORPHA:2909
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Recurrent fractures, Bone pain, Gener...	OMIM:613388
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Hepatic steatosis, Renal hypoplasia	OMIM:615996
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco...	OMIM:608184
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormality of the urinary system, Hepatomegaly	ORPHA:2204
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe per...	ORPHA:99843
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp...	OMIM:301082
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia	ORPHA:664
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss...	OMIM:300009
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microretrognathia, Joint hypermobility, Splenomegaly, Microvesicu...	OMIM:619418
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Recurrent fractures, Urinary incontinence	OMIM:620368
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly	OMIM:613561
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ...	ORPHA:289916
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Abnormalit...	ORPHA:2314
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Ddost-Cdg	Elevated hepatic transaminase, Osteopenia, Nephrotic range proteinuria, Accelerated skeletal matu...	ORPHA:300536
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic mucocutaneous candidiasis, Chronic hepatitis, Iron deficien...	OMIM:269200
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Tented upper lip vermilion, Micrognathia, High, narr...	ORPHA:79322
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Maculopapular exanthema, ...	OMIM:619644
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic synd...	ORPHA:39041
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia	OMIM:231000
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro...	OMIM:616354
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:615558
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Hypospadias, Fractured radius, Cardiomegaly, Micrognathia, Multiple prenatal fracture...	OMIM:616897
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly...	ORPHA:2137
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Reduced bone mineral density, High palate, Hypochromic anemia, Abnorm...	ORPHA:2720
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade...	OMIM:615387
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Acanthocytosis	OMIM:604777
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Hematuria, Hypochromic anemia, Joint hemorrhage	ORPHA:99147
Multiple Myeloma	Osteopenia, Splenomegaly, Bone pain, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndr...	ORPHA:29073
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:79084
Congenital Disorder Of Glycosylation, Type Iit	Tented upper lip vermilion, Urinary incontinence, Iron deficiency anemia, Thick vermilion border,...	OMIM:618885
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia	OMIM:236270
Lysinuric Protein Intolerance	Osteopenia, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis, Decreased glomerular filtra...	ORPHA:470
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Bone pain, Osteolysis, Lymphadenopathy, Bone mar...	ORPHA:391
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Bowing of limbs due to multiple fractures, Decreased calvarial ossif...	OMIM:259410
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e...	OMIM:610967
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega...	OMIM:619849
Dent Disease	Delayed epiphyseal ossification, Bone pain, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight...	ORPHA:1652
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ...	OMIM:175200
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel...	ORPHA:521219
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Wiskott-Aldrich Syndrome	Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Sinusitis, Eczema, Microcytic a...	ORPHA:906
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Flexion contracture, Osteoporosis, Nephropathy, Ascites	ORPHA:87876
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Dental crowding, Micrognathia, Elevated circulating ...	OMIM:615381
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Abnormal oral cavity morphology	ORPHA:42642
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis	OMIM:618234
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva...	OMIM:613070
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Renal cyst, Epiphyseal stippling	OMIM:614870
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cho...	ORPHA:774
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Papil...	ORPHA:97290
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology...	ORPHA:1133
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Re...	OMIM:603553
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Hypospadias, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megalobla...	ORPHA:2575
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Wide mouth, Renal...	OMIM:243910
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Birk-Aharoni Syndrome	Duplicated collecting system, Macrocytic anemia, Micrognathia, Micropenis	OMIM:620071
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Elevated hepatic transaminase, Joint laxity, Cholestasis, Hepatospl...	ORPHA:541423
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Marshall-Smith Syndrome	Craniosynostosis, Protruding tongue, Accelerated skeletal maturation, Gingival overgrowth, Reduce...	ORPHA:561
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular...	OMIM:617021
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Hepatomegaly, Splenomegaly, High palate, Retrognathia	OMIM:615637
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Acanthocytosis, Pruritus, Intrahepatic cholest...	ORPHA:97280
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem...	ORPHA:538
Gaucher Disease Type 2	Splenomegaly, Flexion contracture, Hepatomegaly	ORPHA:77260
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Felty Syndrome	Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Splenomegaly, Limitation of joint mo...	ORPHA:47612
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Chronic noninfectious lymphadenopathy, Bone pain, Abnormal lymph node morpho...	ORPHA:319487
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Osteopenia, Flexion contracture, Iron deficiency anemia, Urinary bladder sphi...	ORPHA:79408
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco...	ORPHA:445038
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Autoim...	ORPHA:911
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat...	OMIM:261680
Morbid Obesity And Spermatogenic Failure	Hepatic steatosis	OMIM:615703
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hy...	OMIM:301014
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath...	OMIM:301078
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, Osteopenia, Recurrent fractures, Delayed skeletal maturation, Joint hyperf...	ORPHA:2324
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Thick upper lip vermilion, Neutropenia	OMIM:612563
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Hypochromic microcytic anemia, Iron deficiency anemia, Abnorma...	ORPHA:97214
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Pruritus, Jaundic...	OMIM:613404
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis	OMIM:620357
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Bone marrow hypocellular...	OMIM:612199
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Tongue f...	OMIM:614922
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Deep philtrum, Hepatosplenomega...	OMIM:606003
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Cleft upper lip, Cleft palate, Persistence of hemoglobin F, Incr...	OMIM:612561
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Recurrent fractures, Camptodactyly of finger, M...	ORPHA:3409
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Reduced bone mineral density, Nephrotic syndrome, Ascites	ORPHA:834
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Very long chain fatty acid accumulation,...	OMIM:261515
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Osteopenia, Anisopoikilocytosis, Anemia	OMIM:615789
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ...	OMIM:300554
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ...	ORPHA:53715
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate neph...	ORPHA:416
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Dental crowding, Methioninuria, Limitation of joint mobility, Osteoporosis, Hi...	OMIM:236200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular...	OMIM:201475
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Autoimmune thrombocyt...	OMIM:616100
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Adrenomyodystrophy	Delayed skeletal maturation, Megacystis, Reduced bone mineral density, Abnormality of the urinary...	ORPHA:977
Mccune-Albright Syndrome	Pancytopenia, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Accelerated skeletal maturati...	ORPHA:562
Intermediate Nemaline Myopathy	Multiple prenatal fractures, High, narrow palate, Flexion contracture, Long philtrum, Arthrogrypo...	ORPHA:171433
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Abnormality of the dentition, Increased urinary type 1 collagen N-terminal telo...	ORPHA:93315
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid...	OMIM:246450
Scheie Syndrome	Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Wide mouth, Mucopolysa...	ORPHA:93474
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Thin skin, Cirrhosis, Hepatic steatosis, Pancreatitis	ORPHA:79083
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus...	OMIM:300946
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Hepatomegaly, Pancytopenia, Thin upper lip vermilion, Skin rash, Megaloblastic anemia,...	OMIM:277380
Gaucher Disease	Osteopenia, Osteoarthritis, Bone pain, Avascular necrosis, Hepatomegaly, Increased bone mineral d...	ORPHA:355
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja...	ORPHA:540
Shigellosis	Hemolytic-uremic syndrome, Leukocytosis, Peritonitis, Urethritis, Cholestasis, Arthritis, Microan...	ORPHA:810
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, High pa...	ORPHA:85212
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Gracile Syndrome	Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron concentration, Hepatic stea...	ORPHA:53693
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Splenomegaly...	OMIM:211600
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Unilateral renal agenesis, Anemia of inadequate production, Radioulnar sy...	OMIM:614900
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fractures, Sclero...	OMIM:602080
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of th...	ORPHA:251028
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr...	OMIM:105600
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Osteoporosis, Hype...	OMIM:606054
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Megaloblastic anemia	OMIM:250940
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase conc...	ORPHA:2088
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites	ORPHA:890
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,...	ORPHA:397596
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Hepatosplenomegaly, Lympha...	OMIM:615122
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
3-Methylglutaconic Aciduria, Type Viib	Micrognathia, Trismus, Flexion contracture, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia,...	OMIM:616271
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Delayed skeletal maturation, Methylmalonic aciduria, Normochromic anemia, Neutropen...	OMIM:614857
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas	ORPHA:2924
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Joint hyperflexibility, Hypoplasia of penis, Decreased calvarial ossification, Recurrent fractures	ORPHA:2772
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Ly...	OMIM:150550
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Fluctuating splenomegaly...	OMIM:610377
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated ...	ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f...	OMIM:611126
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Skin rash, Splenomegaly, Flexion contract...	OMIM:617591
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase...	ORPHA:99826
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Joint stiffness, De...	OMIM:252920
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur...	ORPHA:534
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei	OMIM:615578
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures	ORPHA:2788
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol...	OMIM:607626
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Osteomalacia, Bone pain, Hypercalciuria, Nephrolithiasis, Reduced bone mineral...	ORPHA:157215
Roifman Syndrome	Hepatomegaly, Thin upper lip vermilion, Hip contracture, Eczema, Eosinophilia, Splenomegaly, Lymp...	OMIM:616651
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Renal salt...	ORPHA:275761
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated hepatic transa...	OMIM:608836
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Myoglobinuria, Hepatic steatosis	OMIM:231530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Orofacial cleft, Hepatic fibrosi...	OMIM:615630
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Limitation of joint mobility, Dentinogenesis imperfecta	ORPHA:166277
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Osteomalacia, Recurrent fractures, Camptodactyly of finge...	ORPHA:2176
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Abdominal mass, Pelvic mass, Abnormality of t...	ORPHA:2583
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Leukocytosis, Lymphadenitis, C...	OMIM:615895
Hurler-Scheie Syndrome	Hepatomegaly, Camptodactyly of finger, Micrognathia, Heparan sulfate excretion in urine, Splenome...	OMIM:607015
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Proteinuria, Nodular regenerative hyperplasia of liver, Avascular n...	ORPHA:247691
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis	ORPHA:280356
Rin2 Syndrome	Irregular dentition, Gingival overgrowth, Increased susceptibility to fractures, Abnormal lip mor...	ORPHA:217335
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis, Penile freckling	ORPHA:210548
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Osteopenia, Proteinuria, F...	OMIM:212065
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Parotitis, Camptodactyly of finger, Cardiomegaly, Er...	OMIM:256040
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Acne, Osteoporosis, Nephrolithiasis, Increased susceptibility t...	ORPHA:189427
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa...	ORPHA:93111
Mucopolysaccharidosis Type 3	Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate...	ORPHA:581
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Osteoporosis, Abnorma...	ORPHA:2169
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leu...	ORPHA:811
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Nodular regenerative hyperpl...	ORPHA:404454
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Neurogenic bladder, Acanthocytosis	ORPHA:96180
Dystonia-Aphonia Syndrome	Difficulty in tongue movements, Macroglossia, Abnormal urinary odor, Gingival overgrowth	ORPHA:412217
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures	OMIM:304700
Catastrophic Antiphospholipid Syndrome	Abnormality of the kidney, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolyti...	ORPHA:464343
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral...	OMIM:619795
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Cleft palate,...	ORPHA:79284
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab...	ORPHA:85450
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Delayed skeletal maturation, Hepatosplenomegaly, Wide mouth, Polycystic kidney dysp...	OMIM:608776
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture	OMIM:618193
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Recurrent fractures, Premature loss of primary teeth, Cr...	ORPHA:667
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hepatic steatosis, Cirrhosis	ORPHA:363400
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cirrhosis, Macrovesicular hepatic steatosis, Anemia	ORPHA:298
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:613489
Hurler-Scheie Syndrome	Splenomegaly, Limitation of joint mobility, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Sple...	ORPHA:53035
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Degcags Syndrome	Osteopenia, Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High pa...	OMIM:619488
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, T lymphocyto...	OMIM:300400
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Unilateral renal agenesis, Splenomegal...	OMIM:614576
Seckel Syndrome 10	Microretrognathia, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating aspartate am...	OMIM:617253
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien...	ORPHA:100075
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Abnormality of the kidney, Micrognathia, Abnormality of canine, Iron defic...	ORPHA:261584
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Pseudo-Torch Syndrome 1	Microretrognathia, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenomegaly...	OMIM:251290
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Bone pain, Downturned corners of mouth, Periodo...	ORPHA:955
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M...	OMIM:224300
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Nephrolithiasis, Nephrocalcinosis, Distal renal tub...	OMIM:179800
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Pure red cell aplasia...	ORPHA:436159
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly, Elevated circulati...	OMIM:619534
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Pursed lips, Hip contracture, Flexion contracture of finger, Dental crowdi...	OMIM:193700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture...	OMIM:259450
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Autoimmune hemolytic anemia, Impaired neutrophil ch...	OMIM:619374
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Abnor...	OMIM:203800
Primary Fanconi Renotubular Syndrome	Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe...	OMIM:235200
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Micrognathia, Recurrent fractures, Webbed neck	ORPHA:1486
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hepatic steatosis, Decreased liver function	ORPHA:70472
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Zimmermann-Laband Syndrome	Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat...	ORPHA:3473
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane...	ORPHA:797
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Acroosteolysis of distal phalanges (feet), Micrognathia, Splenomegaly, Osteolytic d...	ORPHA:280365
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy	OMIM:619183
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic steatosis, T...	ORPHA:99901
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hyperphosphaturia, Micrognathia, Hypercalciuria, Knee flexion contra...	OMIM:156400
Ogden Syndrome	Cardiomegaly, Micrognathia, Microvesicular hepatic steatosis, Deep philtrum, Iron deficiency anem...	OMIM:300855
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Dense calvaria	OMIM:252900
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Pruritus, Splenomegaly...	ORPHA:36412
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Bone pain, Hyperca...	OMIM:241530
Lipodystrophy, Congenital Generalized, Type 2	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Elevated ...	OMIM:269700
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Joint laxity, Elevated circulating aspartate aminotransferase conce...	OMIM:617093
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Chronic ki...	ORPHA:85445
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Bone pain, Generalized ...	ORPHA:289157
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Achondrogenesis Type 1A	Long philtrum, Recurrent fractures, Abnormal enchondral ossification, Micrognathia	ORPHA:93299
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Fractures of the long bones, Abnormality of the lymphatic system,...	ORPHA:464329
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, R...	ORPHA:1452
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Thin skin, Finger joint h...	OMIM:166200
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Micrognathia, Pruritus, Splenomegaly, Carious teeth, Crusting e...	ORPHA:742
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Sézary Syndrome	Hepatomegaly, Pruritus, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte morphology	ORPHA:3162
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Skin rash, Perianal abscess, Oral ulcer, Iron deficiency anemia, Arthritis, Lymphocytosis, Thromb...	OMIM:301074
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic...	ORPHA:20
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphol...	ORPHA:98907
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Congenital Generalized Lipodystrophy	Mandibular prognathia, Hepatomegaly, Accelerated skeletal maturation, Macroglossia, Cirrhosis, He...	ORPHA:528
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Cleft upper lip, Micrognathia, Flexion contracture, Cleft palate, Increased sus...	OMIM:312150
Geroderma Osteodysplasticum	Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ...	OMIM:231070
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Chanarin-Dorfman Syndrome	Hepatomegaly, Everted lower lip vermilion, Hepatic steatosis	OMIM:275630
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone pain, Abnormal mean c...	ORPHA:86839
19P13.12 Microdeletion Syndrome	Hypospadias, Craniosynostosis, Cleft palate, Thin vermilion border, Hypodontia, Long philtrum, Ar...	ORPHA:254346
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ectopic kidney, Micrognathia, Reticulocytopenia, Cleft palate, Steroid-respons...	OMIM:613309
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Acantholysis, Palmoplantar keratoderma, Eryth...	OMIM:615508
Cronkhite-Canada Syndrome	Hepatomegaly, Splenomegaly, Hypogeusia, Furrowed tongue, Anemia	ORPHA:2930
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Osteopetrosis, Hepatomegaly	OMIM:618541
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Dentinogene...	OMIM:610968
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Proteinuria, Elevated hemoglobin A1c, Mi...	OMIM:619127
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormality of t...	OMIM:612394
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Osteopenia, Aplastic anemia, Abnormal dental enamel morphology, Abnorm...	ORPHA:221016
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Osteopenia, Hepatomegaly, Accelerated skeletal maturation, Splenom...	OMIM:613327
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Skin rash, Osteomyelitis, Pustule, Splenomegaly, Osteolys...	OMIM:612852
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Everted lower li...	OMIM:252930
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Deep philtrum, Non-midline cleft lip, Cleft palate...	ORPHA:647
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Reduced bo...	ORPHA:1451
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Cutaneous abscess	ORPHA:555905
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Osteoar...	ORPHA:1822
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Hydronephrosis, Thro...	OMIM:222300
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas...	OMIM:614946
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Urinary incontinence	OMIM:221770
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Follicular hyperker...	OMIM:616295
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Increased intramyocellular lipid droplets, Myoglobinuria, Anemia	OMIM:255125
Congenital Macroglossia	Macroglossia, Abnormal hepatic glycogen storage	ORPHA:2430
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Bone pain, Gener...	OMIM:264700
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Recurrent fractures, Elevated circulating aspartate aminotransferase concentration,...	OMIM:606056
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616867
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Thr...	OMIM:214500
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile rheumatoid arthritis	ORPHA:85414
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, ...	ORPHA:79240
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Splenomegaly, Delayed skeletal maturation, Elbow flexion contractur...	OMIM:618440
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Horseshoe kidney, Cleft palate, Increased mean corpu...	OMIM:612562
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Abnormality of the dentition, N...	OMIM:615952
Greenberg Dysplasia	Hepatomegaly, Recurrent fractures, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fra...	OMIM:215140
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Recurrent fractures,...	ORPHA:93160
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Oral ulcer, Hepatosplenomegal...	OMIM:260920
Oncogenic Osteomalacia	Hyperphosphaturia, Bone pain, Increased susceptibility to fractures, Renal phosphate wasting, Pat...	ORPHA:352540
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Craniosynostosis, Cardiomegaly, Micrognathia, Splenomegaly, Limitation ...	OMIM:252500
Grange Syndrome	Increased susceptibility to fractures	ORPHA:79094
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Delayed skelet...	OMIM:260400
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hepatic steatosis	OMIM:212138
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Fractures of the long bones, Limb pain, Acanthocytosis	ORPHA:157850
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Accelerat...	OMIM:608594
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Fetal ascites, M...	OMIM:619503
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cholestasis, Anemia, Camptodactyly, Decreased liver function, Long philtrum, Ascite...	OMIM:608104
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Penile freckling, Splenomegaly, High palate, Long philtrum, Lymphopenia	OMIM:605309
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Thick ...	OMIM:309900
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevat...	OMIM:619991
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Flexion contractur...	ORPHA:1194
Sialuria	Smooth philtrum, Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Macroglossia, High palate,...	OMIM:269921
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobil...	ORPHA:2796
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Micrognathia, Splenomegaly, Pan...	OMIM:235255
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Cleft upper lip, Cleft palate, Thin vermilion bord...	OMIM:614294
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess...	OMIM:612541
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis	OMIM:613877
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Anuria, Leukocytosis, Oliguria, Decreased urine output, Septic arthritis, Acute...	ORPHA:544482
Hyperparathyroidism, Transient Neonatal	Osteopenia, Recurrent fractures, Unilateral renal agenesis, Splenic cyst, Fractured rib, Enlarged...	OMIM:618188
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, I...	ORPHA:358
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psorias...	ORPHA:49041
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Cleft palate, Increased susceptibility to fr...	OMIM:253290
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Recurrent fractures, Urinary incontinence, Osteoarthritis, Painless fractures due ...	OMIM:608654
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ...	OMIM:166220
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Micrognathia, Microvesicular hepatic steatosis, Flexion contracture, Knee flexion contracture, Do...	OMIM:300868
Autosomal Recessive Cutis Laxa Type 2A	Increased susceptibility to fractures, Joint hypermobility, Long philtrum	ORPHA:357058
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni...	OMIM:251100
Antley-Bixler Syndrome	Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Narrow mouth, Ab...	ORPHA:83
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Oral ulcer, Leukopenia, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Leukocytosis, A...	OMIM:615688
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Osteopenia, Recurrent fractures, Joint hypermobility, Micrognathia, Cardiomega...	OMIM:245600
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto...	ORPHA:1959
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisov...	OMIM:210200
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Osteopenia, Pancytopenia, Recurrent urinary tract infections, Join...	OMIM:613658
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis	ORPHA:79151
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Hepatic fail...	OMIM:608013
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Delayed skele...	ORPHA:77293
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Osteopenia, Osteoporosis, Recurrent fractures	OMIM:126550
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Dengue Fever	Hepatomegaly, Skin rash, Pruritus, Leukopenia, Gingival bleeding, Ascites, Thrombocytopenia	ORPHA:99828
Geroderma Osteodysplastica	Mandibular prognathia, Recurrent fractures, Osteoporosis, Joint hyperflexibility, Thin skin, Abno...	ORPHA:2078
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Accelerated skeletal maturation, Cirrhosis, Hepati...	ORPHA:79086
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Mye...	ORPHA:79456
Alström Syndrome	Abnormality of dental color, Urinary incontinence, Accelerated skeletal maturation, Functional ab...	ORPHA:64
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Darier-White Disease	Pruritus, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Proteinu...	ORPHA:90321
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ...	OMIM:254900
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility	OMIM:615220
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Proteinuria, Aut...	ORPHA:1855
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, B...	OMIM:277440
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit...	OMIM:251000
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Enuresis, Hepatic fibrosis, Hepatocellular carcinoma...	ORPHA:247585
Poikiloderma With Neutropenia	Joint laxity, Skin rash, Micrognathia, Carious teeth, Splenomegaly, Joint stiffness, Leukopenia, ...	OMIM:604173
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial...	ORPHA:276
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal...	OMIM:112240
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati...	ORPHA:400
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Maculopapular exanthema, Splenomegaly...	ORPHA:781
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	ORPHA:369840
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Thin upp...	OMIM:608233
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Micrognathia, Leukocytosis, Lymphadenopathy, Acu...	ORPHA:99812
Lipodystrophy, Familial Partial, Type 6	Hepatic steatosis	OMIM:615980
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Micrognathia, Cleft palate, Granulocytopenia, Bifid uvula	OMIM:606164
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Ele...	ORPHA:124
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f...	ORPHA:1782
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor...	OMIM:616294
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, Joint hypermobility, High,...	ORPHA:3166
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth...	ORPHA:2769
Sapho Syndrome	Psoriasiform dermatitis, Acne, Skin rash, Recurrent skin infections, Recurrent fractures, Pustule...	ORPHA:793
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Chronic mucocutane...	ORPHA:227990
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Thin upper lip vermilion, Portal hypertension, Sagittal craniosynostosi...	OMIM:610199
Juvenile Paget Disease	Osteoporosis, Recurrent fractures, Abnormality of the dentition	ORPHA:2801
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Increased su...	ORPHA:371428
Multiple Sulfatase Deficiency	Hepatomegaly, Joint stiffness, Splenomegaly, Mucopolysacchariduria, Smooth philtrum	ORPHA:585
Osteogenesis Imperfecta, Type Ii	Multiple prenatal fractures, Recurrent fractures, Thin skin, Absent ossification of calvaria	OMIM:166210
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ...	ORPHA:1655
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Fractures of the long bones, Os...	OMIM:112250
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Acne, Delayed skeletal maturation, Vacuolated...	OMIM:208400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hepatic steatosis	ORPHA:348
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormality of the tongue, Increased susceptibility to fractures	ORPHA:216866
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Advanced ossification of carpal bones, Cleft palate, Increased suscepti...	OMIM:615349
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s...	OMIM:119600
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Micrognathia, Jaundice, Cleft palate, Aminoaciduri...	OMIM:214110
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Hypospadias, Camptodactyly of finge...	OMIM:166250
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Aphthous ulcer, Stage 5 chro...	OMIM:249100
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, A...	OMIM:301054
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Micrognathia	ORPHA:453510
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Mic...	OMIM:188400
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Chronic mucocutane...	ORPHA:227982
Severe Congenital Nemaline Myopathy	Hypospadias, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex congenita...	ORPHA:171430
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Abnormal m...	ORPHA:367
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Recurrent fractures, Micrognathia, Hypo...	OMIM:601812
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac...	ORPHA:2136
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Mucopolysaccharidosis Type 6	Sinusitis, Joint stiffness, Splenomegaly, Thick lower lip vermilion, Macroglossia, Mucopolysaccha...	ORPHA:583
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste...	OMIM:257220
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Limited elbow movement, Micrognathia, Joint stiffness, Flexio...	OMIM:614008
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality of the kidney, Proteinuria, R...	ORPHA:85443
Osteogenesis Imperfecta, Type Vi	Joint laxity, Increased susceptibility to fractures	OMIM:613982
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Rickets, Nephrocalci...	OMIM:616026
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Recurrent fractu...	OMIM:309583
Bloom Syndrome	Elevated hemoglobin A1c, Agenesis of maxillary lateral incisor, Malar flattening, Leukemia, Malar...	OMIM:210900
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:435651
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Intermittent jaundice, P...	OMIM:243300
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Micrognathia, Wrist flexion con...	OMIM:609465
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:79085
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Abnormality of the dentition, Micrognathi...	OMIM:617952
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Joint hyperm...	ORPHA:536471
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Flexion contracture, Methylmalonic acid...	ORPHA:17
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic necrosis, My...	ORPHA:71212
Primary Sclerosing Cholangitis	Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ...	ORPHA:171
Hereditary Folate Malabsorption	Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, ...	ORPHA:90045
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Hypospadias, Micrognathia, Absent frontal sinuses, Dental malocclusion,...	OMIM:102500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Smooth philtrum, Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrom...	OMIM:277400
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Camptodact...	ORPHA:263487
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Increased mean platelet volume, Avascular necrosis of the capital femo...	OMIM:222470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomeg...	OMIM:301072
Hypermethioninemia Due To Adenosine Kinase Deficiency	Portal fibrosis, Hepatic steatosis, Cholestasis, Elevated circulating alanine aminotransferase co...	OMIM:614300
Biotinidase Deficiency	Hepatomegaly, Recurrent skin infections, Skin rash, Seborrheic dermatitis, Splenomegaly, Organic ...	OMIM:253260
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, High palate, Neutropenia, Hyperechogenic pancreas, Thrombocytope...	OMIM:617941
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Bone pain, Oligoarthr...	OMIM:142680
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Amish Lethal Microcephaly	Hepatomegaly, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, Organi...	ORPHA:99742
Hurler Syndrome	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Flexion contract...	OMIM:607014
Legionnaires Disease	Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hematuria, ...	ORPHA:549
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Multiple prenatal fractures, Flexion contracture, High palate, Narrow mouth, A...	OMIM:616866
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia	OMIM:277410
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Leukocytosis, Decreased proportion of class-switched me...	OMIM:619652
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures	OMIM:166740
Idiopathic Pulmonary Arterial Hypertension	Chronic hemolytic anemia, Right ventricular hypertrophy	ORPHA:275766
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat...	ORPHA:167
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Hypospadias, Recurrent fractures, Ectopic kidney, Narrow ...	ORPHA:3063
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Micrognathia, Renal cyst, Hepatic fibrosis, Widely...	OMIM:266920
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate...	ORPHA:2108
Cole-Carpenter Syndrome	Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ...	ORPHA:2050
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Osteomyelitis, Pathologic fracture	ORPHA:36386
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis	OMIM:604367
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa...	OMIM:203700
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Renal cyst, Micropenis, Hepatic steatosis, Bifid uvula, Penoscrota...	OMIM:270400
Choreoacanthocytosis	Hepatomegaly, Temporomandibular joint crepitus, Elevated circulating aspartate aminotransferase c...	ORPHA:2388
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Oliguria, Anemia, Decreased liver function, R...	ORPHA:90051
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Renal neoplasm, Multiple joint contractures, Recurrent fractures, Tracheomalacia, Mic...	ORPHA:536467
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lym...	OMIM:602579
Familial Mediterranean Fever	Acute hepatic failure, Skin rash, Proteinuria, Splenomegaly, Peritonitis, Osteoarthritis, Lymphad...	ORPHA:342
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Eosinophilic derma...	ORPHA:293173
Bruck Syndrome	Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:2771
Maffucci Syndrome	Osteolysis, Bone pain, Recurrent fractures	ORPHA:163634
Tempi Syndrome	Increased circulating IgG level, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune...	ORPHA:391487
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Joint stiffness, Splenomegaly, Gingival overgrowth, Sea-blue his...	OMIM:230600
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, High palate, Renal hypoplasia	OMIM:619053
Familial Dysautonomia	Abnormal peritoneum morphology, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, R...	ORPHA:1764
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pruritus, Sp...	ORPHA:50918
Stuve-Wiedemann Syndrome 1	Pursed lips, Micrognathia, Carious teeth, Osteoporosis, Elbow flexion contracture, Knee flexion c...	OMIM:601559
Kearns-Sayre Syndrome	Renal tubular acidosis, Sideroblastic anemia, Renal Fanconi syndrome	OMIM:530000
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of finger, Camptodactyly of finger, Cardiomegaly, Retroperitone...	OMIM:602782
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal Fanconi syndrome, Pancreatic isle...	ORPHA:263455
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Abnormal renal corticomedullary differentiation, Asc...	OMIM:617397
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc	OMIM:201100
Familial Chylomicronemia Syndrome	Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepat...	ORPHA:444490
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Narrow palate, Ag...	OMIM:618644
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join...	OMIM:250250
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Autoimmune thrombocytopenia, Micrognathia, Abnorma...	OMIM:147920
Monosomy 13Q34	Fetal pyelectasis, Osteochondrosis, Hepatic steatosis, Micrognathia	ORPHA:96168
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Podagra	OMIM:300322
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Osteopenia, Recurrent fractures, Tooth agenesis, Decreased calvarial ossificat...	OMIM:616229
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran...	OMIM:227810
Brittle Cornea Syndrome	Abnormality of the dentition, Osteoporosis, Cleft palate, Increased susceptibility to fractures, ...	ORPHA:90354
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Leukocytosis, Flexion contracture, Renal hypoplasia, Downturned corners of mou...	OMIM:619321
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Anemia, Thrombocytopenia	OMIM:230900
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture	OMIM:607278
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis	ORPHA:435660
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Recurrent fractures, Micrognathia, Cleft palate, Tracheomalac...	ORPHA:140
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati...	OMIM:232240
Solitary Bone Cyst	Pathologic fracture, Bone pain	ORPHA:83468
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Mucopolysaccharidosis Type 7	Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Mucopolysacchariduria, Ascites	ORPHA:584
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Cleft upper lip, Reticulocytopeni...	OMIM:105650
Kallmann Syndrome	Hypoplasia of penis, Renal agenesis, Recurrent fractures, Delayed skeletal maturation, Cleft pala...	ORPHA:478
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Flexion contracture, High palate, Multiple prenatal fractures	OMIM:271225
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Calcium oxalate nephrolithias...	OMIM:259900
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Prader-Willi Syndrome	Osteopenia, Abnormality of the dentition, Osteoporosis, Increased susceptibility to fractures, Do...	ORPHA:739
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Grange Syndrome	Recurrent fractures, Renal artery stenosis, Renovascular hypertension, Increased susceptibility t...	OMIM:602531
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Idiopathic Juvenile Osteoporosis	Bone pain, Recurrent fractures, Osteoporosis	ORPHA:85193
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Dental crowding, Recurrent fractures, Joint stiffnes...	ORPHA:394
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Bone pain, Recurrent fractures, Rickets	OMIM:600081
Polycythemia Vera	Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Portal vein thrombosis, Acute leukemia...	ORPHA:729
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Renal steatosis, Gout, Hepatic steatosis	ORPHA:412
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Microvesicular hepatic steatosis, ...	OMIM:617156
Osteosarcoma	Pathologic fracture, Osteolysis	ORPHA:668
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ...	OMIM:613095
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul...	OMIM:618329
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephrocalcinosis, Hypern...	ORPHA:90041
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal zygomatic bone morphology, Bone pain, Abnormal facial skeleton morphology,...	ORPHA:249
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Recurrent fractures, Abnormality of the dentition, Delayed skeletal maturation, Osteoporosis, Red...	ORPHA:2235
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Abnormality of the k...	ORPHA:289390
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Hepatic fibrosis, Polysplenia, Ascites, Cyst...	OMIM:200995
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia, Retrognathia, Smooth philtrum	OMIM:617050
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Fo...	OMIM:232200
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Osteopenia, Tented upper lip vermilion, Jaundice, Gingival overgro...	OMIM:614231
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia	OMIM:618372
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Wide mouth, High palate, Joint contracture of the 5th finger, Retrognathia,...	OMIM:619934
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Carious teeth, Splenomegaly, Craniofacial osteosclerosis...	ORPHA:1328
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Achilles tendon contracture, Hepatic...	OMIM:616263
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Microdontia...	OMIM:613610
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Hyperextensibility of the finger ...	OMIM:135500
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	OMIM:607625
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Thrombocytopenia	OMIM:618775
Menkes Disease	Osteomyelitis, Recurrent fractures, Tarsal synostosis, Micrognathia, Osteoporosis, Bladder divert...	ORPHA:565
Neurodegeneration With Brain Iron Accumulation 1	Urinary incontinence, Acanthocytosis	OMIM:234200
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Micrognathia, Decreased proportion of class-switched mem...	OMIM:233600
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:619120
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia, Webbed neck	OMIM:612918
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly, Chronic...	ORPHA:3260
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Camptodactyly of finger, Bicarbonaturia, Pr...	OMIM:309000
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial o...	OMIM:610915
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Anemia, Decreased circulating total IgM, Decreased circulating IgG le...	OMIM:612301
Brucellosis	Hepatomegaly, Liver abscess, Osteomyelitis, Glomerulonephritis, Hypersplenism, Thrombocytopenia, ...	ORPHA:1304
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Marshall-Smith Syndrome	Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Decreased hip abd...	OMIM:602535
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Glycerol Kinase Deficiency	Increased urinary glycerol, Chronic pancreatitis, Osteoporosis, Downturned corners of mouth, Path...	OMIM:307030
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Epiphyseal stippling, Hepatic fibrosis, Cirrhosis	OMIM:601539
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High p...	OMIM:617913
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho...	OMIM:124000
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Ectopic kidney, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepa...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Ectopic kidney, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepa...	ORPHA:99228
Monosomy X	Osteopenia, Ectopic kidney, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepa...	ORPHA:99226
Turner Syndrome	Osteopenia, Ectopic kidney, Micrognathia, High, narrow palate, Reduced bone mineral density, Hepa...	ORPHA:881
Blau Syndrome	Clear cell renal cell carcinoma, Skin rash, Camptodactyly of finger, Erythema nodosum, Splenomega...	ORPHA:90340
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Cystinosis, Nephropathic	Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Delaye...	OMIM:219800
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Skin rash, Osteoporosis	OMIM:601979
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Skin rash, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyu...	ORPHA:91500
Cranioectodermal Dysplasia 1	High, narrow palate, Tubulointerstitial nephritis, Hepatic fibrosis, High palate, Widely spaced t...	OMIM:218330
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Dentinogenesis imp...	OMIM:616507
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ...	ORPHA:84064
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Increased susceptibility to fractures, Prolonged neonatal jaundice, Cho...	ORPHA:909
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:83617
Familial Thrombocytosis	Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Generalized bone demineralization	ORPHA:199299
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Joint stiff...	ORPHA:1606
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Micrognathia, Flexion contracture, Gingival overgrowth, Increased sus...	ORPHA:435628
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:565612
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Acantholysis	OMIM:605676
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-...	ORPHA:79282
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Accelerated skeletal maturation...	ORPHA:373
Mccune-Albright Syndrome	Craniofacial hyperostosis, Pathologic fracture	OMIM:174800
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Insulinoma, Hypercalciuria, Nephrolithiasis, Thymoma, Gingival fibromat...	ORPHA:652
Adenohypophysitis	Normochromic anemia, Hyposthenuria	ORPHA:95512
Brittle Cornea Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:614170
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Thin upper lip vermilion, Joint laxity, Osteomyelitis, Hypospadias...	OMIM:619475
Atypical Werner Syndrome	Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Micrognathia, Limitation ...	ORPHA:79474
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Prema...	ORPHA:3455
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Micrognathia, Accelerated skelet...	OMIM:130070
Mitochondrial Trifunctional Protein Deficiency	Left ventricular hypertrophy, Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis	ORPHA:746
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Aspartylglucosaminuria, Abnormality of the dentition, Cariou...	ORPHA:93
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex...	ORPHA:97282
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:615356
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan...	ORPHA:98908
Aromatase Deficiency	Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Delayed skeletal matura...	ORPHA:91
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Cardiomegaly, Accelerated skeletal maturation, Vesic...	ORPHA:116
Osteogenesis Imperfecta, Type Vii	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Hydronephrosis, Decreased calvarial...	OMIM:610682
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Skin rash, Recurrent skin infections, Osteomalacia, Follic...	OMIM:619381
Panhypophysitis	Normochromic anemia, Hyposthenuria	ORPHA:95513
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture...	OMIM:271640
Fanconi Anemia, Complementation Group D2	Pancytopenia, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropen...	OMIM:227646
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Portal fibrosis, Oroticaciduria	OMIM:207800
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis	OMIM:609638
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ...	OMIM:259770
Crimean-Congo Hemorrhagic Fever	Stiff neck, Leukopenia, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutrophilia, Leukocytosi...	ORPHA:99827
Warty Dyskeratoma	Acantholysis	ORPHA:69745
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo...	ORPHA:84
Addison Disease	Normocytic anemia, Decreased urinary potassium, Renal salt wasting, Thiamine-responsive megalobla...	ORPHA:85138
Stüve-Wiedemann Syndrome	Osteopenia, Recurrent fractures, Camptodactyly of finger, Abnormality of the dentition, Trismus, ...	ORPHA:3206
Acute Adrenal Insufficiency	Normocytic anemia, Renal insufficiency, Decreased urinary potassium, Renal salt wasting	ORPHA:95409
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Asplenia, Cleft hard palate, Flexio...	ORPHA:2152
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Hepatic steatosis	OMIM:151660
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum, Multiple...	ORPHA:90349
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Horse...	OMIM:617088
Cystic Fibrosis	Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis, Chronic sinusitis...	OMIM:219700
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal...	OMIM:181000
Sheehan Syndrome	Normochromic anemia, Hyposthenuria	ORPHA:91355
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Accelerated skeletal maturation, Pancreatic hyperplasia, Vesicoureter...	OMIM:130650
Craniopharyngioma	Increased susceptibility to fractures	ORPHA:54595
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration	OMIM:175780
Lethal Acantholytic Erosive Disorder	Acantholysis	ORPHA:158687
Leptospirosis	Hepatomegaly, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Elevated s...	ORPHA:509
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Conical tooth, Hypodontia, Hepatomegaly	OMIM:612132
Pituitary Apoplexy	Normochromic anemia	ORPHA:95613
Neurofibromatosis Type 1	Recurrent fractures, Abnormality of the upper urinary tract, Joint stiffness, Chronic myelogenous...	ORPHA:636
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia	ORPHA:79351
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Micrognathia, Microvesicular hepatic steatosis, Left ventricular hypertro...	OMIM:220111
Johanson-Blizzard Syndrome	Joint laxity, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminotransferase concentr...	OMIM:243800
Stevens-Johnson Syndrome	Acantholysis	ORPHA:36426
Toxic Epidermal Necrolysis	Acantholysis	ORPHA:537
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Skin rash, Acantholysis	ORPHA:95455
Homozygous Familial Hypercholesterolemia	Hepatic steatosis, Renal artery stenosis, Renal steatosis	ORPHA:391665

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 Uros

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 Uros.

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

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MGI Allele	Allele Type	Produced
Uros^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Uros^{tm1e(EUCOMM)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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