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Gene: Fech MGI:95513

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ferrochelatase
Synonyms:
Fcl,  fch

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fech 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Erythropoietic Protoporphyria
Eczema, Microcytic anemia, Pruritus, Abnormal circulating porphyrin concentration, Erythema, Decr... ORPHA:79278
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Eczema, Pruritus, Erythema, Cholelithiasis, Hepatic failure OMIM:177000

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dermatitis Herpetiformis, Familial
Pruritus OMIM:601230
Pruritus, Hereditary Localized
Pruritus OMIM:177100
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... OMIM:620010
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Cutaneous photosensitivity, Increased erythrocyte protoporphyrin concentr... OMIM:618015
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... ORPHA:232
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... OMIM:619868
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Malaria
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gai... ORPHA:673
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne... OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... OMIM:224120
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Atransferrinemia
Abnormality of the liver, Atransferrinemia, Hypochromic anemia OMIM:209300
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr... OMIM:603552
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Reduced haptoglobin level OMIM:612126
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... ORPHA:3202
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Abnormal lactate dehydrogenase lev... ORPHA:67044
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... OMIM:604416
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly ORPHA:33574
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... ORPHA:86841
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Increased erythrocyte protoporphyrin conce... OMIM:300752
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising susceptibility, HbH hemogl... ORPHA:231401
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Autosomal Erythropoietic Protoporphyria
Eczema, Microcytic anemia, Pruritus, Abnormal circulating porphyrin concentration, Erythema, Decr... ORPHA:79278
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... ORPHA:98870
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... OMIM:232800
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat... OMIM:614034
Majeed Syndrome
Inflammatory abnormality of the skin, Skin rash, Anemia of inadequate production, Microcytic anem... OMIM:609628
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... OMIM:619658
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem... OMIM:617780
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... OMIM:314050
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Growth delay, Anemia OMIM:611490
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Elevated c... OMIM:619874
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... ORPHA:824
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... ORPHA:848
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Abdominal pain, Diarrhea, Abnormal lactate dehydrogenase level, Microangiopathic... ORPHA:54057
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ... ORPHA:398063
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... OMIM:611590
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Int... ORPHA:858
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Pruritus, Conjugated hyperbilirubinemia, J... ORPHA:3111
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hy... ORPHA:172
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Elevated circulating C-reactive protein concentration, Short stature, Hypochromic m... OMIM:619423
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Hypochromic anemia OMIM:606893
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Acne, Congenital hypoplastic anemia, Pustule,... ORPHA:77297
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Severe... ORPHA:440713
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... OMIM:210250
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Decreased circulating antibody le... OMIM:226300
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno... ORPHA:79301
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Pruritus, Splenomegaly, Intrahepatic cholestasis, Conjugated hyperbi... OMIM:601847
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... OMIM:603909
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis, Flexion contracture, Camptodactyly, Poor suck OMIM:604273
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia OMIM:230350
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Thrombocythemia 3
Thrombocytosis OMIM:614521
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... OMIM:259720
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Galactose Epimerase Deficiency
Growth delay, Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... ORPHA:247598
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... ORPHA:75233
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... OMIM:611881
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Classic Galactosemia
Vomiting, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryp... ORPHA:79239
Thrombocythemia 2
Thrombocytosis OMIM:601977
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp... OMIM:618805
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia ORPHA:3319
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Hyperbilirubinemia ORPHA:713
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Anemia of inadequate production, Splenomegaly, Jaundice, Malnutrition, E... OMIM:612714
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Intrahepatic chole... OMIM:602347
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Decr... OMIM:613280
Babesiosis
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Leukopenia... ORPHA:108
Niemann-Pick Disease, Type A
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Bone-... OMIM:257200
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-... OMIM:607616
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia, Abnormality of the liver, Intrauterine growth retardation, Subcut... ORPHA:1980
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterol... ORPHA:75234
Wolcott-Rallison Syndrome
Acute hepatic failure, Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyper... ORPHA:1667
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C... OMIM:618278
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Hypoalbuminemia, Neutropenia, Ecchymosis, Hepatomegaly, Maculopapular exanthema, Decreas... ORPHA:540
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Choreoathetosis, Feeding difficulties, Hypochromic anemia, Microcytic anemia OMIM:618451
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abdominal distention, Diarrhea, Cryptorchidism, Elevated circulating creatinine con... OMIM:608104
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Ataxia, Reticulocytosis OMIM:300653
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... ORPHA:91547
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosple... OMIM:619013
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Small intestinal dysmotility, Hypogonadotropic hypogonadism, Poor ... ORPHA:298
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Anemia, Intrauterine growth retar... ORPHA:290
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Feeding difficulties, Increas... OMIM:613839
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Ataxia, Hyperammonemia, Anemia, Leukopenia,... ORPHA:27
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... OMIM:600462
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... OMIM:261000
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Skin rash, Elevated hepat... OMIM:603553
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h... ORPHA:66634
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Coproporphyria, Hereditary
Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, Constipation, Vomiting, Cutaneous... OMIM:121300
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic anemia, Feeding difficul... OMIM:250940
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... OMIM:235555
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating enzyme concentration or activity, Ankle flexion contracture, A... ORPHA:100924
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Decreased methionine synthase activ... OMIM:236270
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Metrorrhagia, Elevated carcinoma antigen 125 level... ORPHA:370348
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa... ORPHA:1414
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... OMIM:613313
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Atopic dermatitis, Hypochromic microcytic anemia, G... ORPHA:3240
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Pruritus, Splenomeg... OMIM:211600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypoch... ORPHA:514
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c... ORPHA:48818
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... OMIM:615010
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79333
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Premature gr... ORPHA:79477
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... OMIM:613812
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Test... ORPHA:83469
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Eczema, Abdominal pain, Abdominal diste... OMIM:212750
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega... OMIM:619849
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... OMIM:274150
Letterer-Siwe Disease
Seborrheic dermatitis, Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, T... OMIM:246400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... OMIM:616084
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Plummer-Vinson Syndrome
Poor appetite, Abdominal pain, Hypochromic microcytic anemia, Iron deficiency anemia, Dysphagia, ... ORPHA:54028
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... OMIM:159550
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane... OMIM:245900
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ... ORPHA:53035
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Cutis marmorata, Elevated circulating C-reactive protein concentration, Follicular hyp... OMIM:615934
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Poor appetite, Megaloblastic anemia, Anisopoiki... ORPHA:35858
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Hypochromic microcytic anemia, Growth delay, Hyperalaninemia, Anemia OMIM:619147
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Cholangiocarcinoma
Pruritus, Jaundice, Acholic stools, Biliary tract neoplasm ORPHA:70567
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:79235
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Ataxia, Feeding difficulties in infancy, Splenomegal... OMIM:619046
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Abnormality of neutrophils... ORPHA:381
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, Nasogastric tube feeding OMIM:607906
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Abnormal circulating enzyme concentration or activi... ORPHA:51208
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Ascites, Anemia ORPHA:100025
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Skin rash, Hepatomegaly OMIM:619175
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to... OMIM:608885
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Dysphagia, Lethargy OMIM:613561
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Chronic noninfectious lymphaden... ORPHA:100075
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosp... OMIM:619750
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Vomiting, ... ORPHA:37042
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... OMIM:617394
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... OMIM:619256
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Diarrhea, Schistocytosis, Elevated circulating creatinine concentration, Hyperli... OMIM:235400
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Scarring, Anisocytosis, I... ORPHA:79277
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Castleman Disease
Nausea and vomiting, Intestinal obstruction, Generalized lymphadenopathy, Abdominal mass, Elevate... ORPHA:160
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin ORPHA:890
Immunodeficiency 104
Hepatomegaly, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, T lymphoc... OMIM:608971
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia OMIM:612563
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Conjugated hyperbilirubi... OMIM:243300
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... OMIM:614480
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrh... ORPHA:71
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia OMIM:229100
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Sepsis In Premature Infants
Hepatomegaly, Cyanosis, Petechiae, Elevated circulating C-reactive protein concentration, Splenom... ORPHA:90051
3-Methylglutaconic Aciduria, Type V
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr... OMIM:610198
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Increased circulating lactate... ORPHA:447
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Maculopapular exa... ORPHA:39812
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... OMIM:619632
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder OMIM:607685
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Decreased methionine synthase activit... OMIM:614857
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Darier... ORPHA:98848
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Eczema, Portal hypertension... OMIM:615688
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... ORPHA:300298
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia OMIM:302060
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic... OMIM:603903
Prolidase Deficiency
Hepatomegaly, Petechiae, Eczema, Elevated circulating aspartate aminotransferase concentration, S... OMIM:170100
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... ORPHA:79096
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Hyperammonemia, Lethargy, Anemia ORPHA:28
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Vomiting, Decrease... ORPHA:330015
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Vom... ORPHA:14
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Erythrocytosis, Familial, 1
Plethora, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit OMIM:133100
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k... OMIM:616050
Thrombocytopenia 5
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Hyperammonemia, Feedin... ORPHA:79312
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Feeding difficulties in infancy, Diarrhea, Leukop... OMIM:229050
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Acute colitis, Abdominal pain, Leukocytosis, Schistocytosis, Diarr... ORPHA:90038
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hy... ORPHA:89937
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... OMIM:619902
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... ORPHA:400
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... OMIM:300635
Dermatitis Herpetiformis
Eczema, Microcytic anemia, Pruritus, Erythema, Urticaria ORPHA:1656
Galactosemia Iv
Hypergalactosemia, Prolonged neonatal jaundice OMIM:618881
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... ORPHA:97283
Schnitzler Syndrome
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Anemia ORPHA:37748
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Abdominal pain, Pruritus, Microvesicular hepatic steatosis, Se... OMIM:619377
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocy... OMIM:275350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creati... OMIM:610377
Galactosemia Ii
Hypergalactosemia, Prolonged neonatal jaundice OMIM:230200
Phosphoglycerate Dehydrogenase Deficiency
Reduced 3-phosphoglycerate dehydrogenase activity, Decreased testicular size, Thrombocytopenia, M... OMIM:601815
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatrem... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatrem... ORPHA:529799
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... OMIM:105600
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Vomiting, Hypoalbuminem... OMIM:277900
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Prolonged neonatal jaundice OMIM:262400
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Abdominal pain, Thrombocytopenia, Abdominal distention, Abnormal lymp... ORPHA:2330
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Abdominal distention, Elevated circulating alkaline phosphatase concent... OMIM:174050
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... OMIM:618641
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Conjugated hyperbilirubinemia, Elevat... OMIM:605479
Primary Familial Polycythemia
Pruritus, Polycythemia, Abnormal hemoglobin, Abdominal pain ORPHA:90042
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia OMIM:143500
Blue Rubber Bleb Nevus
Skin rash, Microcytic anemia ORPHA:1059
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Persistence of hemoglobin F, Increased mean corpuscular vol... OMIM:610629
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, ... OMIM:194350
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Perianal absces... OMIM:301074
Trichohepatoenteric Syndrome 1
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the pan... OMIM:222470
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Acquired Von Willebrand Syndrome
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Metrorrhagia, Melena, Menorrha... ORPHA:99147
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Feeding difficulties, Iron deficiency anemia, Constipati... OMIM:618885
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat... ORPHA:275761
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia OMIM:612527
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Atretic gallbladder, Jaundic... ORPHA:30391
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... ORPHA:20
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Abnormality of ... OMIM:612840
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... ORPHA:446
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... OMIM:617021
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis, Anemia ORPHA:75563
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Thr... OMIM:214500
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Pruritus, Intrahepatic cholestasis, Jaundice, Abnormal liver funct... OMIM:147480
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hyperhomocystin... ORPHA:2169
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Neutrophilia, Leukocytosis, Angioedema, Hepatosplenomeg... ORPHA:3260
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... OMIM:231100
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Eczema, Microcytic anemia OMIM:612379
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Pruritus, Splenomegaly, Erythema nodosum... OMIM:613471
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Galactosemia I
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... OMIM:230400
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Erythrocytosis, Familial, 4
Pruritus, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Bruising susceptibility, HbH hemoglobin, Short stature, Microcytic anemia ORPHA:98791
Familial Thrombocytosis
Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Birk-Aharoni Syndrome
Cryptorchidism, Inability to walk, Macrocytic anemia, Tube feeding OMIM:620071
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibility, Congeni... OMIM:300367
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abdominal distention, Hyperlipidemia, Portal fibrosi... ORPHA:369
Hemochromatosis, Type 3
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... OMIM:604250
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia OMIM:112200
Cholestasis, Intrahepatic, Of Pregnancy 3
Pruritus, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests during pregnancy, Inc... OMIM:614972
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... ORPHA:3261
Gray Platelet Syndrome
Splenomegaly, Bruising susceptibility, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-... ORPHA:85443
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac... ORPHA:398124
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative... OMIM:619463
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diarrhea, Leuko... ORPHA:99826
Glucagonoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Necrolytic migratory... ORPHA:97280
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Monosomy 22
Seborrheic dermatitis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly ORPHA:96123
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr... OMIM:610333
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Hepatomegaly OMIM:269840
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:614727
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Unsteady gait, No... OMIM:615512
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... ORPHA:276
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Necrotizing Enterocolitis
Hyponatremia, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, Vomitin... ORPHA:391673
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Autoerythrocyte Sensitization Syndrome
Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Abnormal er... ORPHA:324636
Pediatric Systemic Lupus Erythematosus
Skin rash, Abdominal pain, Discoid lupus rash, Abdominal distention, Diarrhea, Malar rash, Lympha... ORPHA:93552
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A... OMIM:300048
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia ORPHA:49827
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, D... ORPHA:100078
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... ORPHA:167
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... OMIM:251900
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... OMIM:301040
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Microcytic anemia ORPHA:90308
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ... OMIM:277380
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Hyperammonemia, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Decreased methionine synthase activity... OMIM:277410
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Gastroeso... OMIM:249270
Diamond-Blackfan Anemia
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... ORPHA:124
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Impo... OMIM:606069
Srd5A3-Cdg
Elevated hepatic transaminase, Microcytic anemia ORPHA:324737
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Syndromic Diarrhea
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the liv... ORPHA:84064
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Pruritus, Jaundice, Acholic stools, Cholestatic liver disease, Cir... ORPHA:65682
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Oculocerebral Hypopigmentation Syndrome, Preus Type
Ataxia, Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Conjugated hyperbiliru... ORPHA:168577
Alveolar Echinococcosis
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Abdominal pain, Portal hypertension, Hepatic cy... ORPHA:284
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, HbH hemoglobin, Gastrosto... ORPHA:423479
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Petechiae, Splenomegaly, ... OMIM:225750
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin ORPHA:90036
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Thymoma, Iron deficien... OMIM:269200
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:232700
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level,... OMIM:231000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Flushing, Hepatomegaly, Neutrophilia, Abdominal pain... ORPHA:98849
Poems Syndrome
Abnormality of skin physiology, Lymphadenopathy, Acrocyanosis, Thrombocytosis, Ascites, Polycythe... ORPHA:2905
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Methylmalonic acidemia, Loss of ability to walk in early childhood, Elevated circulating creatine... OMIM:612073
Trehalase Deficiency
Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal distention, Diar... ORPHA:103909
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia OMIM:245550
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis ORPHA:134
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Skin rash, Pruritus, Abnormality of the pancreas, Pruritus on foot... ORPHA:69665
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Acatalasemia
Reduced catalase level, Microcytic anemia ORPHA:926
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Legionnaires Disease
Nausea and vomiting, Hyponatremia, Ataxia, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Jaun... ORPHA:549
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol... OMIM:607626
Acrocephalopolydactyly
Protuberant abdomen, Hepatosplenomegaly ORPHA:221054
Dubin-Johnson Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... ORPHA:234
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote... ORPHA:54251
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Senior-Boichis Syndrome
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... ORPHA:84081
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Telangiectasia, Abnormal circulating glutamine concentration, Increas... ORPHA:101028
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Short stature, Hepatomegaly ORPHA:417
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f... OMIM:251290
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent skin infections, Short stature, Postnatal growth retardation, Splenomegal... OMIM:620210
Immunodeficiency 102
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... OMIM:301082
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... OMIM:301078
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, Thrombocytopenia OMIM:616176
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... OMIM:615387
Tyrosinemia Type 1
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... ORPHA:676
Fanconi Anemia, Complementation Group G
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:86893
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Megaloblastic anemia, Feeding difficulties, Hyperhomocystinemia, El... ORPHA:79284
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Idiopathic Congenital Hypothyroidism
Feeding difficulties in infancy, Constipation, Prolonged neonatal jaundice, Umbilical hernia, Neo... ORPHA:95717
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu... OMIM:611762
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Biliary tract abnormality, Bloody diar... OMIM:175200
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Microvesicular hepatic steato... OMIM:619418
Vipoma
Nausea and vomiting, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Poor appetite, Anorex... ORPHA:97282
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Lymphadenopathy, Abnormal lymp... ORPHA:2584
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Bone marrow hypocellularity, Cutaneous photosensitivity, Thrombocytopenia OMIM:615715
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... ORPHA:90003
Adiposis Dolorosa
Abdominal distention, Constipation, Painful subcutaneous lipomas OMIM:103200
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Elevated proportion of CD4-negati... OMIM:619802
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Intr... OMIM:617093
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Lambert Syndrome
Intrauterine growth retardation, Jaundice, Intrahepatic biliary atresia, Cholestasis ORPHA:1296
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Oslam Syndrome
Increased mean corpuscular volume, Short stature, Abnormality of neutrophils ORPHA:2760
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chro... OMIM:616622
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... OMIM:614300
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge... OMIM:261750
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Elevated hepatic transaminase, Short stature, Lack of facial subcutaneo... ORPHA:2959
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Normochromic... OMIM:618775
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a... ORPHA:525731
Alg6-Cdg
Abnormal circulating enzyme concentration or activity, Ataxia, Jaundice, Decreased LDL cholestero... ORPHA:79320
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis ORPHA:60
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Hypogonadism, Cryptorchidism, Ataxia, Neonatal hyperbilirubinemia ORPHA:3363
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Hepat... OMIM:212065
Thyroid Hemiagenesis
Abdominal distention, Jaundice, Umbilical hernia, Constipation ORPHA:95719
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C... ORPHA:186
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Abdominal distent... OMIM:617156
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepati... ORPHA:171
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Difficulty ... OMIM:255125
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria OMIM:615578
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Flushing, Maculopapular exanthema, Portal hypertension, Abdominal pain, Le... ORPHA:98850
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, E... OMIM:301054
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Bone-marrow foam cells, Fetal ascites, Low ... OMIM:257220
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... OMIM:618372
Sea-Blue Histiocytosis
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm... ORPHA:158029
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Webbed neck, ... OMIM:105650
Dengue Fever
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Petechiae, Abdominal p... ORPHA:99828
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Decreased fumarate hydratase acti... OMIM:606812
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of sk... OMIM:263700
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Hypocalcemia, Elevated he... OMIM:619991
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab... OMIM:230900
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
H Syndrome
Psoriasiform dermatitis, Short stature, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomega... ORPHA:168569
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... OMIM:607330
Pulmonary Arteriovenous Malformation
Liver abscess, Cyanosis, Telangiectasia, Iron deficiency anemia, Gastrointestinal infarctions ORPHA:2038
Pancreatic Colipase Deficiency
Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Megaloblastic anemia ORPHA:309108
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... OMIM:150550
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Prolonged neonatal jaundice, Vomiting, Feeding difficulties OMIM:618512
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Pruritus, Conjugated hyperbili... OMIM:613404
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Methemoglobinemia ORPHA:621
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... OMIM:605911
Tempi Syndrome
Facial erythema, Telangiectasia, Increased circulating IgG level, Increased hematocrit, Ascites, ... ORPHA:284227
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Abdominal distention, Panc... OMIM:235255
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Thrombocytopenia, Abdominal distention, Hyperlipidemia, Decreased propo... ORPHA:1830
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomeg... OMIM:612526
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,... ORPHA:1304
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:300842
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Abnormal erythrocyte morphology, Diarrhea, Folate-unresponsive megaloblastic anemia, Megaloblasti... ORPHA:2575
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Skin rash, Sple... OMIM:617591
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... OMIM:614872
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Secretory diarrhea, Elevated gamma-glutamy... OMIM:619573
Propionic Acidemia
Hepatomegaly, Pancytopenia, Eczema, Poor appetite, Feeding difficulties in infancy, Hyperammonemi... OMIM:606054
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... OMIM:609981
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy... OMIM:306000
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:613027
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:614887
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Colitis, Exocrine pancrea... ORPHA:309031
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Hyponatremia, Premature ovarian insuff... ORPHA:199299
Eisenmenger Syndrome
Hepatomegaly, Brain abscess, Cyanosis, Elevated circulating C-reactive protein concentration, Hyp... ORPHA:97214
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Increased circulating lactate dehydrogenase concentr... ORPHA:94093
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Pancreatitis, Episodic abdominal pain, Hepatosplenomegaly... OMIM:238600
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Recurrent infectio... ORPHA:51890
Mirizzi Syndrome
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... ORPHA:521219
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Growth delay OMIM:612561
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Maculopapular e... OMIM:619644
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Feeding difficulties, Constipation, Prolonged neonatal jaundice, U... ORPHA:95715
Hamamy Syndrome
Inguinal hernia, Microcytic anemia, Cryptorchidism, Hypochromic anemia, Enamel hypoplasia OMIM:611174
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ... ORPHA:99829
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Skin rash, Generalized lymphadenopathy... ORPHA:829
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Abdominal distention, Gastrointestinal dys... OMIM:613662
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... OMIM:617049
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... OMIM:616299
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... OMIM:607625
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Decreased me... OMIM:251110
Familial Thyroid Dyshormonogenesis
Feeding difficulties in infancy, Constipation, Prolonged neonatal jaundice, Umbilical hernia, Abn... ORPHA:95716
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal diste... ORPHA:103907
Hydroxykynureninuria
Jaundice OMIM:236800
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Splenomegaly, Abdominal distention, Pancreatic lymphangiectasis, P... ORPHA:1655
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Plethora, Increased hemoglobin OMIM:263400
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... OMIM:613490
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Tel... OMIM:606003
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short stature ORPHA:66518
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Erythroderma, ... ORPHA:39041
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... OMIM:619685
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Decrea... ORPHA:90045
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... ORPHA:1451
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Cholestasis, Abnormal intrahe... ORPHA:562639
Hijazi-Reis Syndrome
Chronic constipation, Gastroesophageal reflux, Gait disturbance, Hyperbilirubinemia, Gastrostomy ... OMIM:301094
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Dysphagia, Testicular atrophy, Thrombocytopenia OMIM:222300
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Eczema, Pruritus, Erythema, Cholelithiasis, Hepatic failure OMIM:177000
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis... ORPHA:2070
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Vomiting, Hepatic fibrosis, Hep... ORPHA:264580
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Melena, Ane... ORPHA:319251
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel... OMIM:187800
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... OMIM:227810
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Umbilical hernia, Jaundice, Constipation, Gait disturbance ORPHA:2349
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... OMIM:256040
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Absent circulating... OMIM:620282
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Ataxia, Cutis marmorata, A... ORPHA:33226
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Nodular regenerative hyperplasia of li... ORPHA:247691
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Telangiectasia of the skin, Portal hypertension, Microcytic anemia, ... ORPHA:774
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Abdominal distention, Leukocytosis, Chronic diarrhea, Mediastinal lymphadenopathy, ... OMIM:620233
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
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Ataxia, Feeding difficulties, Gait disturbance, Hypogonadism, Dysphagia ORPHA:98673
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Abscess, Perianal abscess, Splenomeg... OMIM:618935
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding difficulties in infancy... OMIM:608836
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... ORPHA:85212
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Short stature, Pancreatic steatosi... OMIM:617052
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Short stature, Microcytic anemia, Severe postnatal growth retardation, Delayed puberty, Moderate ... ORPHA:293967
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Pure red cell aplasia... ORPHA:436159
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Abdominal pain, Abdominal distention, D... ORPHA:469
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Premature graying of hair, Increased mean ... OMIM:127550
Lymphatic Malformation 7
Abdominal distention, Ascites, Anemia OMIM:617300
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th... ORPHA:88
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia ORPHA:1046
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Biliary cirrhosis, I... OMIM:215600
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Intrauterine growth retardation, Hepatomegaly OMIM:608540
Non-Functioning Pituitary Adenoma
Nausea and vomiting, Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypo... ORPHA:91349
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Granulocytopenia, Congenital diaphragmatic hernia, Feeding difficulties OMIM:606164
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Short stature, Hepatomegaly ORPHA:2204
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Hematemesis, Bloody diarrhea, Hematochezia, Melena,... ORPHA:464321
Familial Pancreatic Carcinoma
Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intesti... ORPHA:1333
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Recurrent skin infections, Abnormal circulating selenium concentration, M... ORPHA:79408
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, Abn... ORPHA:79456
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Vomiting, Macro... OMIM:256810
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... ORPHA:231111
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Hyperalaninemia, Ataxia, Elevated circulating acylcarnitine concentration, Abnormal circulating c... OMIM:615838
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... ORPHA:158048
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Immunodeficiency 96
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Growth delay, I... OMIM:619774
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Eczema, Microcytic anemia, Thrombocy... ORPHA:906
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:79240
Acquired Methemoglobinemia
Cyanosis, Methemoglobinemia, Vomiting, Abdominal pain ORPHA:464453
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Muckle-Wells Syndrome
Hepatomegaly, Short stature, Skin rash, Splenomegaly, Urticaria, Delayed puberty, Anemia ORPHA:575
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Autoimmune thrombocyt... OMIM:616100
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Short stature,... OMIM:260400
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Neutrophilic Dermatosis, Acute Febrile
Elevated circulating C-reactive protein concentration, Erythema, Anemia, Panniculitis, Cystic acn... OMIM:608068
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... OMIM:214110
Schimke Immunoosseous Dysplasia
Waddling gait, Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Abnormal T ... OMIM:242900
Ogden Syndrome
Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia, Vomiting, Macrovesicular ... OMIM:300855
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bruising susceptibility, Anemia, Leukope... ORPHA:77259
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Inguinal hernia, Portal hypertension, Cholestasis, F... OMIM:613658
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Roifman Syndrome
Hepatomegaly, Short stature, Eczema, Eosinophilia, Postnatal growth retardation, Splenomegaly, Ly... OMIM:616651
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Reynolds Syndrome
Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Cirrhosis, Ascites, Gene... ORPHA:779
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hyperammonemia, Vomiting, Lethargy OMIM:616483
Fanconi Anemia, Complementation Group V
Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro... OMIM:617243
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Jaundice, Hyperammonemia... ORPHA:79282
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Gastroesophageal reflux, Vomiting, Nausea, Male infertil... ORPHA:85450
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, T lymphocyto... OMIM:300400
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Increased circulating lactate dehydrogenase concen... OMIM:614866
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver ORPHA:205
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Abdominal distention, Hepatiti... ORPHA:436252
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Short stature, Microcytic anemia, Leukocytosis, Intrauterine growth r... ORPHA:99843
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Feeding difficulties, Persistence of hemoglobin F, Gastroesophageal reflux, Increa... OMIM:619769
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Inguinal hernia, Hypoglycinemia, Megaloblastic anemia, Feeding difficulties, Hyposerinemia, Athet... ORPHA:79351
Gaisböck Syndrome
Plethora, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration... ORPHA:90041
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:608779
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hepatic steatosis, Hepatomegaly, Anemia, Irregular menstruat... ORPHA:79259
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thrombocytopenia OMIM:254900
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Elevated circulating long chain fatty acid concentr... OMIM:614886
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Elevated circu... ORPHA:26793
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Recurrent skin infections, Short stature, Decreased proportion of class-switched me... OMIM:233600
Immunodeficiency, Common Variable, 6
Hepatomegaly, Purpura, Enlarged kidney, Autoimmune thrombocytopenia OMIM:613496
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Poor wound... OMIM:608203
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Primary Effusion Lymphoma
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain ORPHA:48686
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:163979
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Elevated circulating alpha-fetoprotein concentrat... ORPHA:180229
Caspase 8 Deficiency
Short stature, Eczema, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:607271
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, In... OMIM:615710
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen, Prolong... ORPHA:226313
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Decreased me... OMIM:251100
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Abdomin... OMIM:235200
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega... OMIM:618999
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... OMIM:277400
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Low plasma citrulline... ORPHA:95427
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, P... OMIM:251000
Degcags Syndrome
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Oral-pharyngeal dysphagia, Hiatus hern... OMIM:619488
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia... OMIM:617941
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Erythroderma, Hepatitis, Lymphadenopathy, Anem... OMIM:304790
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Autoimmune hemolytic anemia, Ataxia, Impaired T cell... OMIM:613179
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Increa... OMIM:185070
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, ... ORPHA:444490
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Increased circulating I... ORPHA:99827
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... OMIM:232220
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflamm... ORPHA:49041
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Skin rash, Poor appetite, Diarrhea, Elevated circulating creatinin... ORPHA:542323
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dec... OMIM:619048
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Hepatoblastoma, Iron deficiency anemia, Intestinal bleeding, Spastic gait ORPHA:261584
Maternal Uniparental Disomy Of Chromosome 1
Growth delay, Hepatomegaly, Pancytopenia, Short stature ORPHA:251009
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Constipation, Menor... ORPHA:168816
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Decreased liver function, Anemia OMIM:618835
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent skin infections, Short stature, Peria... ORPHA:2968
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Decreased liver function, Anemia OMIM:618839
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Folinic Acid-Responsive Seizures
Abdominal distention, Broad-based gait, Ataxia, Difficulty walking ORPHA:79097
Diamond-Blackfan Anemia 10
Macrocytic anemia, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Reticulocytope... OMIM:613309
Adenohypophysitis
Hyponatremia, Decreased female libido, Poor appetite, Normochromic anemia, Impotence, Decreased m... ORPHA:95512
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Elevated circulating alkaline phosphatase conce... OMIM:259700
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema, Generaliz... OMIM:619183
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Sézary Syndrome
Hepatomegaly, Pruritus, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte morphology ORPHA:3162
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:613489
Lesch-Nyhan Syndrome
Megaloblastic anemia, Choreoathetosis, Vomiting, Hyperuricemia, Dysphagia, Testicular atrophy OMIM:300322
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab... ORPHA:47612
Fanconi-Bickel Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:2088
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Hyperglutamatemia, Hypoargininemia, Chronic diarrhea, Low plasma citrulline, Hype... OMIM:620358
Hurler-Scheie Syndrome
Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Leukocytosi... ORPHA:67
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Galactose Mutarotase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... ORPHA:570422
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Urticaria, Splenomegaly, Pancytopenia OMIM:614979
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Seborrheic dermatitis OMIM:121270
Diamond-Blackfan Anemia 7
Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Neutropenia, Intrauterine gro... OMIM:612562
Peroxisome Biogenesis Disorder 6B
Ataxia, Unsteady gait, Elevated circulating phytanic acid concentration, Limb ataxia, Gait ataxia... OMIM:614871
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, H... ORPHA:292
Leptospirosis
Nausea and vomiting, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Diarrhea, Jaundice, Hepat... ORPHA:509
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Abdominal pain, Jaundic... OMIM:229600
Acute Adrenal Insufficiency
Normocytic anemia, Nausea and vomiting, Hyponatremia, Decreased female libido, Hypercalcemia, Ano... ORPHA:95409
Livedoid Vasculopathy
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... ORPHA:542643
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Elevated circula... OMIM:615673
Familial Atrial Myxoma
Jaundice, Ascites, Cholestasis, Cardiomegaly ORPHA:615
Pfapa Syndrome
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:42642
Panhypophysitis
Hyponatremia, Decreased female libido, Poor appetite, Normochromic anemia, Impotence, Decreased m... ORPHA:95513
Gitelman Syndrome
Nausea and vomiting, Neoplasm of the pancreas, Abdominal pain, Diarrhea, Hypermagnesemia, Iron de... ORPHA:358
Mulibrey Nanism
Hepatomegaly, Short stature, Intrauterine growth retardation ORPHA:2576
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Inguinal hernia, Akinesia, Acanthocytosis, Flexion contracture, Elbow flexion ... OMIM:618947
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Short stature, Neutropenia OMIM:618752
Sialidosis Type 2
Splenomegaly, Ascites, Short stature, Hepatomegaly ORPHA:87876
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive protein concentration, Leu... ORPHA:50918
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Addison Disease
Normocytic anemia, Nausea and vomiting, Hyponatremia, Premature ovarian insufficiency, Primary te... ORPHA:85138
Farber Lipogranulomatosis
Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Hepatomegaly OMIM:228000
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Neuraminidase Deficiency
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... OMIM:256550
Ppoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Hepatomegaly, Neoplasm ... ORPHA:97278
Tyrosinemia, Type I
Acute hepatic failure, Gastrointestinal hemorrhage, Hypertyrosinemia, Hepatomegaly, Elevated hepa... OMIM:276700
Sialuria
Splenomegaly, Inguinal hernia, Protuberant abdomen, Hepatomegaly OMIM:269921
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Biliary cirrhosis... ORPHA:227990
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Increased circulating galectin-3 lev... ORPHA:57777
Spondyloepimetaphyseal Dysplasia, Shohat Type
Splenomegaly, Abdominal distention, Hepatomegaly OMIM:602557
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperproline... OMIM:615751
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Cyanosis, Splenomegaly, Growth delay, Ascites ORPHA:2414
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Constipat... OMIM:239200
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Neonatal death, Elevated circulating glutaric acid concentration, Hepatic... OMIM:231680
Kearns-Sayre Syndrome
Sideroblastic anemia, Ataxia OMIM:530000
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... OMIM:232400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... ORPHA:508542
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Severe short-limb dwarfism, Rhizomelia, Anemia ORPHA:1842
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Increased c... OMIM:222700
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Skin rash, Elevated circulating C-reactive protein concentration, Splenomegaly, Lym... ORPHA:85414
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Constipation, Prolong... ORPHA:90673
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hyperammonemia, Hyperuricemia, Anemia OMIM:246450
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Ataxia, Skin rash, Diarrhea, Jaundice... ORPHA:90062
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Impaired T cell function, Poor appetite, Perianal erythema, Splenomegaly, D... OMIM:201100
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly ORPHA:79292
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Polysplenia,... OMIM:614294
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Elevated circulating creatinine concentration, Hyperkalemia, Elevat... OMIM:620366
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... OMIM:227650
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
B4Galt1-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Inflammator... ORPHA:79332
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Biliary cirrhosis... ORPHA:227982
Cronkhite-Canada Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:2930
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi... ORPHA:677
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Abdominal pain OMIM:609812
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Splenomegaly... OMIM:613610
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Flexion contracture, Hypoproteinemia OMIM:608093
Allan-Herndon-Dudley Syndrome
Ataxia, Feeding difficulties in infancy, Cryptorchidism, Flexion contracture, Choreoathetosis, Pr... ORPHA:59
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... OMIM:600901
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Pituitary Apoplexy
Nausea and vomiting, Hyponatremia, Hypergonadotropic hypogonadism, Normochromic anemia, Impotence... ORPHA:95613
Achondrogenesis Type 1A
Abdominal distention, Umbilical hernia, Femoral hernia ORPHA:93299
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... ORPHA:73272
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Small Bowel Atresia
Abdominal distention, Vomiting, Feeding difficulties ORPHA:1201
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediastinal lympha... ORPHA:379
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... OMIM:102700
Grfoma
Poor appetite, Anorexia, Neoplasm of the thymus, Lack of bowel sounds, Hepatomegaly, Episodic abd... ORPHA:97261
Sheehan Syndrome
Hyponatremia, Dyspareunia, Decreased female libido, Poor appetite, Normochromic anemia, Impotence... ORPHA:91355
Nephrotic Syndrome, Type 1
Abdominal distention, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Feeding difficulties in infancy, Constipation, Prolonged neonatal jaundice,... ORPHA:90674
Achondrogenesis, Type Ib
Abdominal distention, Inguinal hernia, Umbilical hernia OMIM:600972
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Discoid lupus rash, Splenomegal... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Discoid lupus rash, Splenomegal... OMIM:233710
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Flexion contracture, Reticulocytope... OMIM:227645
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Iron deficiency anemia ORPHA:93315
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Anorexia, Hy... ORPHA:3008
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Chilblains, Po... OMIM:619487
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Difficulty walking OMIM:619345
Donohue Syndrome
Abdominal distention, Adipose tissue loss, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell h... OMIM:246200
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia, Hernia, Hiatus hernia ORPHA:101009
Bachmann-Bupp Syndrome
Feeding difficulties in infancy, Cryptorchidism, Hyperbilirubinemia OMIM:619075
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Listeriosis
Unusual skin infection, Liver abscess, Ataxia, Abdominal pain, Pustule, Diarrhea, Jaundice, Perit... ORPHA:533
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Prominent superficial veins, Intermittent thrombocytopenia, Perianal abscess, Eryth... OMIM:612541
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Skin rash, Abscess, Elevated circulating C-reactive protein concentra... OMIM:612852
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Discoid lupus rash, Splenomegal... OMIM:233690
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... OMIM:616005
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Vomiting, Lethargy, Hepatomegaly, Abnormal c... ORPHA:470
Qazi-Markouizos Syndrome
Chronic constipation, Abdominal distention, Cryptorchidism ORPHA:3010
Biotinidase Deficiency
Hepatomegaly, Ataxia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding diffic... OMIM:253260
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythema, Lymphadenopathy, ... ORPHA:99812
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic failure,... OMIM:608013
Genetic Transient Congenital Hypothyroidism
Increased circulating thyroglobulin level, Feeding difficulties, Constipation, Prolonged neonatal... ORPHA:226316
Meckel Syndrome, Type 8
Abdominal distention, Enlarged kidney OMIM:613885
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph... ORPHA:1572
Acth Deficiency, Isolated
Jaundice, Cholestasis OMIM:201400
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation OMIM:618541
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Ascites ORPHA:168811
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Severe postnatal growth retardation, Jaundice, Short stature, Prolonged neonatal jaundice OMIM:613038
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Ovarian Fibroma
Mesenteric cyst, Abdominal pain, Abdominal distention, Peritonitis, Ascites ORPHA:314473
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbumin... ORPHA:367
Lassa Fever
Nausea and vomiting, Menometrorrhagia, Abdominal pain, Diarrhea, Jaundice, Increased circulating ... ORPHA:99824
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Skin rash, Chilblains, Generalized lymphadenopathy,... OMIM:615846
Ovarian Fibrothecoma
Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Ascites ORPHA:314478
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Cutis marmorata, Splenomegaly, Mediastinal lymphadenopathy, Abnorm... ORPHA:91138
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen OMIM:277300
Developmental And Epileptic Encephalopathy 75
Decreased liver function, Prolonged neonatal jaundice OMIM:618437
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Chilblains, Cutis marmor... ORPHA:51
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Splenomegaly, Hepatitis, He... ORPHA:781
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ... OMIM:608233
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... ORPHA:98907
Kawasaki Disease
Nausea and vomiting, Skin rash, Abdominal pain, Leukocytosis, Diarrhea, Jaundice, Hepatitis, Cerv... ORPHA:2331
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Hurler Syndrome
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Enlarged tonsils, Hepatosplenom... OMIM:607014
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Decr... ORPHA:99867
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis... OMIM:617303
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Abnormal hemoglobin, Feeding difficulties in infancy, Cryptorchidism, Flexio... ORPHA:847
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... ORPHA:464329
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Hypoalbuminemia, Gastroesophageal reflux, Hepatic fibrosis, Elevat... OMIM:619534
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... OMIM:619381
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Prominent veins on trunk, Thin skin, Cirrhosis,... ORPHA:79083
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Glucose-Galactose Malabsorption
Hypercalcemia, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting, ... ORPHA:35710
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hepatosplenomegaly, Increase... ORPHA:79237
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Umbilical hernia, Inguinal hernia, Protuberant abdomen OMIM:618272
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea OMIM:606824
Zellweger Syndrome
Hepatomegaly, Jaundice, Hepatic failure, Short stature ORPHA:912
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Hepatosplenomegaly ORPHA:93352
Adams-Oliver Syndrome 6
Splenomegaly, Cutis marmorata, Hepatic fibrosis, Portal hypertension OMIM:616589
Saccharopinuria
Hypercystinemia, Hyperammonemia, Gait ataxia, Abnormality of circulating enzyme level, Elevated p... ORPHA:3124
Niemann-Pick Disease Type C
Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate,... ORPHA:646
Cap Polyposis
Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Ascites, Petechiae OMIM:617397
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Poikiloderma With Neutropenia
Skin rash, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Telan... OMIM:604173
Typhoid
Splenomegaly, Skin rash, Hepatomegaly ORPHA:99745
Congenital Isolated Acth Deficiency
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Skin rash, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenop... ORPHA:809
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Anemia ORPHA:93598
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts, Conjugated hyperb... OMIM:208500
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... ORPHA:77293
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... OMIM:269700
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progressive gait ataxia, Tip-... ORPHA:309256
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Growth delay, Anemia, Hypocalcemic seizures OMIM:612301
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... OMIM:617827
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Hepatomegaly, Eczema, Splenomegaly, Gastrointestinal dysmotility, Abdominal di... OMIM:270400
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Discoid lupus rash, Splenomegal... OMIM:306400
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thin skin, Hepatic steatosis, Pancreatitis ORPHA:2348
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Progressive cerebellar ataxia, Prolonged neonatal jaundice, Bowel incontinence, Dysphagia OMIM:618868
Acute Intermittent Porphyria
Nausea and vomiting, Hyponatremia, Abnormal circulating enzyme concentration or activity, Abdomin... ORPHA:79276
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Skin rash, Anorexia, Oral-ph... ORPHA:95455
Nabais Sa-De Vries Syndrome, Type 1
Prolonged neonatal jaundice OMIM:618828
Thyroid Hypoplasia
Abdominal distention, Jaundice, Constipation ORPHA:95720
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Cholestatic liver disease, Vomiting ORPHA:92050
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
Abcd Syndrome
Neonatal death, Polycythemia OMIM:600501
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
3-Methylglutaconic Aciduria, Type Viii
Growth delay, Jaundice, Neonatal death, Neutropenia OMIM:617248
Gm1-Gangliosidosis, Type I
Hepatomegaly, Severe short stature, Splenomegaly, Vacuolated lymphocytes, Angiokeratoma corporis ... OMIM:230500
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly OMIM:612387
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Elbow contracture, Abdominal distention, Feeding difficulties, Gastroesophageal ... OMIM:620275
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Splenomegaly, Flexion contracture, Reduced leukocyte beta-glucuronidase activity, P... OMIM:253220
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Flexion contracture, Gait disturbance, Protuberant abdomen OMIM:613330
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased cir... OMIM:214700
Spastic Paraplegia 29, Autosomal Dominant
Vomiting, Neonatal hyperbilirubinemia, Hiatus hernia OMIM:609727
Aredyld Syndrome
Splenomegaly, Intrauterine growth retardation, Short stature, Hepatomegaly ORPHA:1133
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... OMIM:218700
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Intrau... ORPHA:46059
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv... ORPHA:456312
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Increased iduronate sulfatase level, Increased serum beta-hexosami... OMIM:252500
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia ORPHA:436271
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Reticulocytopenia... OMIM:227646
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Difficul... OMIM:264700
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Cryptorchidism, Chronic constipation, Neutropenia, Neonata... ORPHA:163956
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Unsteady gait, Feeding difficultie... OMIM:214100
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice OMIM:612291
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Cutis marmorata, Erythema nodosum, Biliary cirrhosis... ORPHA:289390
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Epidermolysis Bullosa Simplex With Pyloric Atresia
Elevated circulating creatine kinase concentration, Abdominal distention, Scarring alopecia of sc... ORPHA:158684
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:252920
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ... ORPHA:465508
Polycythemia Vera
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Portal vein thrombosis, Acute leukemia... ORPHA:729
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614582
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Neonatal hyperbilirubinemia ORPHA:293939
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Growth delay, Delayed puberty, Thrombocytopenia ORPHA:77261
American Trypanosomiasis
Splenomegaly, Skin rash, Lymphadenopathy, Hepatomegaly ORPHA:3386
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating alkaline phosphatase concentration, Difficulty walking, Hypophosphatemia, Pr... OMIM:277440
Mucopolysaccharidosis Type 3
Hepatomegaly, Inguinal hernia, Ataxia, Cardiomegaly, Adenoiditis, Splenomegaly, Flexion contractu... ORPHA:581
Pachydermoperiostosis
Hepatomegaly, Acne, Seborrheic dermatitis, Splenomegaly, Eczematoid dermatitis, Anemia ORPHA:2796
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Hyperuricemia, Protuberant abdomen, ... OMIM:232200
Prolidase Deficiency
Hepatomegaly, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Erythema, Thin skin, Cuta... ORPHA:742
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphaden... OMIM:260920
Whipple Disease
Hyponatremia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Anemia ORPHA:3452
Hepatoerythropoietic Porphyria
Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ... ORPHA:95159
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Maculopapular exanthema, Eosinophilia, Portal hypertension, Hyper... ORPHA:797
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:228305
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Splenomegaly, Inability to walk, Knee flexion contracture, Hepa... ORPHA:576
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
African Trypanosomiasis
Hepatomegaly, Akinesia, Abnormality of the menstrual cycle, Pruritus, Splenomegaly, Diarrhea, Jau... ORPHA:3385
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice ORPHA:99832
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Anemia OMIM:220110
Colonic Atresia
Omphalocele, Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Low plasma c... OMIM:261680
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Skin rash, Anorexia, Abdominal pain, Elevated circulating C-reactive protein c... ORPHA:91500
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Jaundice, Erythema,... ORPHA:913
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Abdominal distention, Progressive gait ataxia, Cholecystitis, Difficulty walk... ORPHA:309271
Short-Rib Thoracic Dysplasia 12
Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Periportal fibrosis, Protuberant abdome... OMIM:269860
Diaphanospondylodysostosis
Inguinal hernia, Abnormal liver lobulation, Protuberant abdomen, Webbed neck, Enlarged kidney OMIM:608022
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Short stature, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Hepatic... OMIM:301072
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, ... ORPHA:2131
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia, Hepatomegaly OMIM:605309
Nodular Non-Suppurative Panniculitis
Splenomegaly, Erythema, Hepatomegaly ORPHA:33577
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Purpura OMIM:254450
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Short stature, Telangiectasia of the skin, Abnormality of... ORPHA:1775
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Progeroid facial appearance, Postnatal growth retard... ORPHA:90321
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Hepatic steatosis, Broad-based gait, Ataxia, Abdominal pain, Abnor... OMIM:619475
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... ORPHA:565612
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:203700
8P11.2 Deletion Syndrome
Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay ORPHA:251066
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Progressive gait ataxia, Cholecystitis ORPHA:309263
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Feeding difficulties ORPHA:95232
Meckel Syndrome 14
Abdominal distention, Cyanosis, Hepatic fibrosis, Protuberant abdomen OMIM:619879
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Decreased beta-galactosidase activity, Sea-blue histiocytosis, Hepatomegaly OMIM:230600
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Gait disturbance, Protuberant abdomen, Decreased circulating IgA level ORPHA:457485
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Sotos Syndrome
Cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Prolonged neonatal jaundice, Episo... OMIM:117550
Hypocalcemic Vitamin D-Dependent Rickets
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Hypocalcemia, Difficulty walking,... ORPHA:289157
Argininemia
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... OMIM:207800
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal pain, Enlarged polycystic ovaries, Abdominal distention, Ascites, ... ORPHA:64739
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... OMIM:614921
Familial Tumoral Calcinosis
Splenomegaly, Erythema, Skin rash, Hepatomegaly ORPHA:53715
Mosaic Trisomy 9
Asplenia, Intrauterine growth retardation, Abnormal liver lobulation, Webbed neck ORPHA:99776
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention ORPHA:1876
Microvillus Inclusion Disease
Pruritus, Abdominal distention, Diarrhea ORPHA:2290
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Hydrocele testis, Gastroesophageal reflux, Unconjugated hyperbilirubinemia... OMIM:620186
Johanson-Blizzard Syndrome
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Porta... OMIM:243800
Scheie Syndrome
Splenomegaly, Hepatomegaly ORPHA:93474
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Jaundice, Hyperkalemia, Vomiting, Macroorchidism ORPHA:90790
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia, Feeding difficulties OMIM:613986
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Short stature,... ORPHA:2785
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Intrauterine growth retardation, Thrombocytopenia, Hepatomegaly OMIM:619005
Thyroid Ectopia
Abdominal distention, Jaundice, Umbilical hernia, Constipation ORPHA:95712
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Inguinal hernia, Protuberant abdomen OMIM:184250
Doors Syndrome
Thrombocytosis ORPHA:79500
Familial Visceral Myopathy
Abdominal distention, Umbilical hernia, Abdominal situs inversus, Camptodactyly of finger ORPHA:2604
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen OMIM:617102
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Glutaric Acidemia Type 3
Lethargy, Abnormality of circulating enzyme level, Elevated circulating glutaric acid concentration ORPHA:35706
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Hypophosphatemia, Bruisi... ORPHA:667
Fraser Syndrome 2
Abdominal distention, Hypoplasia of the thymus OMIM:617666
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc, Skin rash OMIM:601979
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Abdominal distention, Hypoka... ORPHA:508
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Chronic calcifying p... ORPHA:103918
Occipital Horn Syndrome
Inguinal hernia, Gastroparesis, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cho... ORPHA:198
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Hypercalcemia, Abdominal distention, Diarrhea, Cervical lymp... ORPHA:653
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Constipation, Prolonged neonatal ... ORPHA:226307
Glycogen Storage Disease Ic
Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Hyperu... OMIM:232240
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Short stature, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymph... OMIM:602782
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Camptodactyly, Protuberant abdomen, Knee flexion contracture OMIM:618019
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Greenberg Dysplasia
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Bone ... OMIM:215140
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy OMIM:616028
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Poor wound healing, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, An... ORPHA:2072
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Flexion contracture, Elbow flexion... OMIM:210710
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Leukopenia, Abnorma... ORPHA:84
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Malformation of the hepatic ductal plate, Ectodermal dysplasia, He... OMIM:218330
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... OMIM:118450
Gaucher Disease
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration,... ORPHA:355
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea OMIM:270420
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Omphalocele, Hypoperistalsis, Abdominal distention, Cryptorchidism, Umbilica... ORPHA:2241
Arima Syndrome
Hepatomegaly, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia OMIM:243910
X-Linked Acrogigantism
Hypogonadism, Abdominal distention, Ataxia ORPHA:300373
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney OMIM:200995
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... OMIM:215700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypouricemia, Elevated circulating al... OMIM:616026
Menkes Disease
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Feeding difficulties in infanc... ORPHA:565
Camurati-Engelmann Disease
Hepatomegaly, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Leukopenia, Delayed pu... ORPHA:1328
Schneckenbecken Dysplasia
Umbilical hernia, Protuberant abdomen OMIM:269250
Thanatophoric Dysplasia, Type I
Protuberant abdomen OMIM:187600
Fibrochondrogenesis 1
Omphalocele, Joint contracture of the hand, Protuberant abdomen, Camptodactyly OMIM:228520
Viss Syndrome
Inguinal hernia, Prominent superficial blood vessels, Eczema, Abdominal distention, Chronic diarr... OMIM:619472
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention, Enamel hypoplasia, Recurrent skin infections ORPHA:79403
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... OMIM:619127
Dyggve-Melchior-Clausen Disease
Inability to walk, Difficulty walking, Abnormal circulating enzyme concentration or activity, Pro... ORPHA:239
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ... ORPHA:83617
Opsismodysplasia
Protuberant abdomen, Hypophosphatemia OMIM:258480
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Feeding difficulties, Hypogonadism OMIM:614231
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Hematemesis, Fingerpad telangiect... OMIM:600376
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Protuberant abdomen OMIM:151210
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Hepatomegaly, Interphalangeal joint contracture of finger, Cryptorchidism, Flexion c... ORPHA:96334
Cerebrotendinous Xanthomatosis
Abnormal circulating enzyme concentration or activity, Ataxia, Prematurely aged appearance, Chron... ORPHA:909
Blau Syndrome
Skin rash, Erythema nodosum, Splenomegaly, Erythema, Lymphadenopathy, Abnormality of the liver, A... ORPHA:90340
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:608594
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Webbed neck OMIM:612918
Tetrasomy 9P
Absent gallbladder, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, Biliary atresia,... ORPHA:3310
Sotos Syndrome
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Cryptorchidism, Bilat... ORPHA:821
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Achondrogenesis, Type Ii
Protuberant abdomen OMIM:200610
Atelosteogenesis Type Ii
Elbow flexion contracture, Protuberant abdomen, Camptodactyly ORPHA:56304
Currarino Syndrome
Perianal abscess, Gastrointestinal obstruction, Chronic constipation, Abdominal distention OMIM:176450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis OMIM:619351
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Feeding difficulties, Webbed neck, Gastroesophageal reflux, Gait imbala... OMIM:616268
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Inguinal hernia OMIM:271520
Digeorge Syndrome
Acne, Short stature, Seborrheic dermatitis, Splenomegaly, Anemia, Abnormal thymus morphology, Hyp... OMIM:188400
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrotic ectodermal dysplasia, Splenomegaly, Hepatomegaly OMIM:612132
Neurooculorenal Syndrome
Postnatal growth retardation, Conjugated hyperbilirubinemia OMIM:620305
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, N... OMIM:187300
Achondrogenesis, Type Ia
Protuberant abdomen OMIM:200600
Atelosteogenesis, Type I
Cryptorchidism, Protuberant abdomen OMIM:108720
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exocrine pancreatic... OMIM:219700
Neu-Laxova Syndrome 2
Protuberant abdomen OMIM:616038
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Feeding difficulties, Flexion contracture, Protuberant abdomen, Tube feeding OMIM:619479
Aspartylglucosaminuria
Hepatomegaly, Acne, Short stature, Vacuolated lymphocytes, Angiokeratoma corporis diffusum, Neutr... OMIM:208400
Ctcf-Related Neurodevelopmental Disorder
Inguinal hernia, Nasogastric tube feeding in infancy, Cryptorchidism, Feeding difficulties, Gastr... ORPHA:363611
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention OMIM:619362
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe, Protuberant abdomen OMIM:608328
Pyknoachondrogenesis
Abdominal distention, Webbed neck ORPHA:3003
Congenital Disorder Of Glycosylation, Type Iim
Enamel hypoplasia, Gastroesophageal reflux, Neonatal hyperbilirubinemia OMIM:300896
Atresia Of Urethra
Abdominal distention, Ascites ORPHA:105
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Abdominal distention, Congenital hepatic fibrosis, Cryptorchidism ORPHA:93271
Blomstrand Lethal Chondrodysplasia
Protuberant abdomen ORPHA:50945
Mowat-Wilson Syndrome
Abdominal distention, Constipation, Vomiting, Cryptorchidism OMIM:235730
Pmm2-Cdg
Elevated hepatic transaminase, Abnormal subcutaneous fat tissue distribution, Reduced thyroxin-bi... ORPHA:79318

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 Fech

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 Fech.

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

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