Gene Summary

Name:
sprouty-related EVH1 domain containing 2
Synonyms:
Spred-2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular volume Spred2em1(IMPC)Mbp HOM   Early adult 6.34×10-06
abnormal kidney morphology Spred2em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Spred2em1(IMPC)Mbp HOM Early adult 0.00
fused cornea and lens Spred2em1(IMPC)Mbp HOM   Early adult 3.28×10-05
increased brain size Spred2em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Spred2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Spred2em1(IMPC)Mbp HOM Early adult 0.00
enlarged stomach Spred2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating bilirubin level Spred2em1(IMPC)Mbp HOM Early adult 1.26×10-06
increased heart weight Spred2em1(IMPC)Mbp HOM   Early adult 9.14×10-05
enlarged lymph nodes Spred2em1(IMPC)Mbp HOM Early adult 0.00
cataract Spred2em1(IMPC)Mbp HOM Early adult 1.25×10-05
enlarged kidney Spred2em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Spred2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Spred2em1(IMPC)Mbp HOM Early adult 0.00
increased red blood cell distribution width Spred2em1(IMPC)Mbp HOM Early adult 1.47×10-05
abnormal skin morphology Spred2em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Spred2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Spred2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, A... OMIM:613673
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hyperbilirubinemia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly,... OMIM:237800
Apolipoprotein A-I Deficiency
Corneal opacity, Anemia, Splenomegaly, Decreased HDL cholesterol concentration, Abnormality of th... ORPHA:425
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Cirrhosis, Hypochromia, Elevated hepatic transamina... OMIM:616860
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Increased total iron binding capacity, Elevated hepatic transaminase, Por... OMIM:616278
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili... OMIM:616689
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Conjunctival icterus, Bilirubinuria, Jaundice,... ORPHA:3111
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Prolonged neonat... OMIM:618892
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Hypoplasia of the ulna, Mesomelia, S... OMIM:249700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Increased circulating ferrit... ORPHA:3202
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas... OMIM:200500
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Cardiome... OMIM:269920
Malaria
Acute kidney injury, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protei... ORPHA:673
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Hyperbilirubinemia, Cholelithias... OMIM:235700
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Splenomegaly, Abno... OMIM:618495
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbi... OMIM:607765
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Cholelithiasis, Jaundice, Splenomegaly, Sp... OMIM:182900
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abnormal heart morphology, Nephropathy, ... ORPHA:85445
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepato... OMIM:211600
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Jaundice, Splenomegaly, Acanthocytosis, Sp... OMIM:616649
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Abnormal e... ORPHA:288
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Hepatomegaly, Jaundice, Sp... OMIM:185000
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Hip dislocation, Short tibia, Fibular ap... OMIM:605274
Ethanolaminosis
Cardiomegaly OMIM:227150
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly ORPHA:52416
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Narrow palate, Macrovesicular hepatic steatosis, Cardiomegaly, Renal i... OMIM:608836
Tyrosinemia, Type I
Glomerular sclerosis, Renal insufficiency, Paralytic ileus, Cirrhosis, Hypertyrosinemia, Enlarged... OMIM:276700
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Hyper... OMIM:614300
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Gastrointestinal hemorrhage, Polycystic liver di... ORPHA:2924
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Macrovesicular hepatic steatosis... OMIM:613070
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Hyperbilirubinemia, Jaundice, ... OMIM:109270
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hepatom... OMIM:235555
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Caroli Syndrome
Conjugated hyperbilirubinemia, Melena, Jaundice, Hypersplenism, Leukopenia, Abnormality of the ki... ORPHA:480520
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Lcat Deficiency
Hemolytic anemia, Hematuria, Corneal opacity, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, R... ORPHA:650
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Hep... OMIM:601847
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Renal ... ORPHA:890
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly, Anemia OMIM:273680
Hardikar Syndrome
Elevated hepatic transaminase, Ventricular septal defect, Hydroureter, Hyperbilirubinemia, Intest... OMIM:612726
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Cataract, Jaundice, Splenomegaly ORPHA:79238
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, J... ORPHA:234
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Co... OMIM:603552
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Alpha-Heavy Chain Disease
Hypocalcemia, Hepatomegaly, Ascites, Anemia, Splenomegaly, Abnormality of the small intestine, Ma... ORPHA:100025
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Elevated hepatic transaminase, Hyperbilirubinemia, Abnorma... ORPHA:98870
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanin... ORPHA:53035
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, Cataract, High palate OMIM:614882
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Hypochromia, Hepatomegaly, Anemia, Splenomegaly, De... OMIM:615234
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, H... OMIM:259720
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Mesomelic arm shortening, Tarsal synostosis, Short 4th finger,... ORPHA:2756
Cystic Echinococcosis
Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepatic cysts, Abno... ORPHA:400
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly,... OMIM:266200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Proteinu... OMIM:617303
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, He... OMIM:618528
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Abnormality of iron homeostasis, Decreased mean corpusc... ORPHA:231226
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia... OMIM:214950
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Conjugated hyperb... OMIM:613404
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Wide anterior fontanel, Overlapping toe, Micrognathia, Fibular hypoplasia, Clinodac... OMIM:201170
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly, Cataract, Jaundice, Glossoptosis, Elevated circulating a... OMIM:614876
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Galactosemia Ii
Prolonged neonatal jaundice, Cataract, Hypergalactosemia, Galactosuria OMIM:230200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... ORPHA:79302
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Atrial septal defect, Exocrine pancreatic insufficiency, E... ORPHA:1667
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Cataract, Coloboma OMIM:607906
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color, Splenomegaly ORPHA:90037
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal def... OMIM:208085
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Situs inversus totalis, Enlarged kidney, ... OMIM:602088
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As... ORPHA:858
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Colitis, Thrombocytopenia, Hypert... OMIM:613101
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Polycystic liver disease, Renal cyst, Ascites OMIM:174050
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... ORPHA:79301
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Autoimmune Hepatitis
Acute hepatitis, Increased total bilirubin, Cirrhosis, Inflammation of the large intestine, Eleva... ORPHA:2137
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Orotic Aciduria
Hypochromia, Atrial septal defect, Hematuria, Ventricular septal defect, Folate-unresponsive mega... OMIM:258900
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Jaundice, Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Villous atrophy, Conjugated hyperbil... ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Nephroti... OMIM:617713
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Abnormality o... ORPHA:2768
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cataract, Cardiomegaly, Ascites, Sp... OMIM:256550
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Anal atresia, Hydronephrosis, Atrioventricular canal defect, T... OMIM:314390
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:267700
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Crigler-Najjar Syndrome, Type I
Jaundice, Unconjugated hyperbilirubinemia OMIM:218800
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Splenomegaly,... OMIM:607616
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Malabsorption ORPHA:172
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Elev... ORPHA:730
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Intrinsic Factor Deficiency
Megaloblastic anemia, Increased mean corpuscular volume, Megaloblastic erythroid hyperplasia, Mal... OMIM:261000
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Elevated hepatic transaminase, Polycythemia, He... OMIM:613280
H Syndrome
Abnormality of the kidney, Microcytic anemia, Enlarged kidney, Malabsorption, Histiocytosis, Hype... ORPHA:168569
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abn... ORPHA:79106
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Elevated hepcidin level, Anisocytosis, Poikilocytosis OMIM:206200
Galactosemia Iv
Prolonged neonatal jaundice, Cataract, Hypergalactosemia OMIM:618881
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Splenomegaly, Abnormality of the ... ORPHA:93476
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hypoplastic colon, Hypoplasia of the small ... OMIM:200995
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Abetalipoproteinemia
Cirrhosis, Elevated hepatic transaminase, Hypotriglyceridemia, Reticulocytosis, Hepatic steatosis... ORPHA:14
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hemolytic anemia, Albuminuria, Incre... OMIM:230400
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Episodic he... OMIM:601775
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hemophagocytosis, Increased total bilirubin, Hypopr... OMIM:603553
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Hyperbilirubinemia, Intestinal malrotation, Jejunal atresia, C... OMIM:615710
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglo... ORPHA:713
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Esophageal varix, Hepatomegaly, Jaundice, Hypertriglyceridemia, ... ORPHA:75234
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Atrial septal defect, Recurrent gastroenteritis, Enlarged kidney, Abnormal heart mo... ORPHA:505248
Lathosterolosis
Horseshoe kidney, Elevated hepatic transaminase, Intrahepatic cholestasis, Abnormal circulating c... OMIM:607330
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Fat malabsorpti... ORPHA:30391
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Corneal opacity,... ORPHA:290
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Talipes equinovarus, Tarsal synostosis, Short phal... OMIM:609441
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Gilbert Syndrome
Jaundice, Unconjugated hyperbilirubinemia OMIM:143500
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Congenital Erythropoietic Porphyria
Red-brown urine, Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocy... ORPHA:79277
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Inflammation of the large intesti... OMIM:300635
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Urinary bladde... ORPHA:449395
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased circulating ferritin concentration, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly, Hyperammonemia, Pyloric stenosis ORPHA:664
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Jaundice, Splenomegaly, Hyperkalemia OMIM:608885
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Hepatomegaly, Cataract, Furrowed tongue, Stomach cancer, Intestinal p... ORPHA:2930
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232220
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Hyperbilirubinemia, Elevated circulating lon... OMIM:614886
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegal... ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Cataract, Jaundice, ... ORPHA:168577
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic li... ORPHA:1414
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Hepatocel... OMIM:235200
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Cholestasis OMIM:609734
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Lymphadenitis, Leukocytosis, C... OMIM:618886
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Thrombocytopenia, Cataract, 3-Methylglutaconic aciduria, Decreased liver f... ORPHA:67048
Relapsing Fever
Increased total bilirubin, Hematuria, Elevated hepatic transaminase, Acute kidney injury, Leukocy... ORPHA:91547
Fish-Eye Disease
Corneal opacity, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenop... ORPHA:79292
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Colitis, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Fibular hypoplasia, Small for gestatio... OMIM:227270
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Splenomegaly, Dilated card... OMIM:602390
Slc35A2-Cdg
Camptodactyly of finger, Abnormality of long bone morphology, Hip subluxation, Aplasia/hypoplasia... ORPHA:356961
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Cataract, Cardiomyopathy, Anemia OMIM:606069
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia, Renal insufficie... ORPHA:79312
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative ... ORPHA:251004
Mulibrey Nanism
Myocardial fibrosis, Iris coloboma, Hepatomegaly, Microglossia, Nephroblastoma, Cardiomegaly, Asc... OMIM:253250
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Hypoalbuminemia, Anemia, Splenomegaly, Enlarged mese... OMIM:209950
Reynolds Syndrome
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Biliary cirrhosis, Hyperbilirubinemia... OMIM:613471
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Sandal gap, Abnormality of the metacarpal bones, Micrognathia, Po... ORPHA:1106
Griscelli Syndrome
Iris hypopigmentation, Abnormality of neutrophils, Abnormal circulating lipid concentration, Thro... ORPHA:381
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232200
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Intestinal perforation, Acute kidn... ORPHA:90038
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Leber Congenital Amaurosis 1
Keratoconus, Hyperthreoninemia, Hepatomegaly, Cataract, Hyperthreoninuria OMIM:204000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Colitis ORPHA:88643
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Conjugated hyperbilirubinemia, Cholelithiasis, Hepatomegaly, Jaundice OMIM:605479
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Hepatomegaly, Cataract, Decreased liver function ORPHA:570422
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Elevated hepatic transaminase, ... ORPHA:39812
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperuricemia, Anemia, Hyperlipidemia, Enlarged kidney, Nephrolithiasis, He... ORPHA:79259
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Hepatomegaly, Cataract, Ectopic kidney, Abnormality of the kidney OMIM:613730
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Griscelli Syndrome Type 2
Iris hypopigmentation, Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splen... ORPHA:79477
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Abnormal heart morphology, Hepato... ORPHA:370
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Maternally-Inherited Diabetes And Deafness
Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy, Cataract, Renal insufficie... ORPHA:225
Pfapa Syndrome
Hepatomegaly, Malabsorption, Lymphadenopathy, Splenomegaly ORPHA:42642
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Endocardial fibroel... OMIM:212140
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Hypercalcemia, Hypoalbuminemia, Anem... ORPHA:88673
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular se... OMIM:306955
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the kidney, Morphological abnormality of the gastrointestinal tract, Intestinal pe... ORPHA:464321
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedul... ORPHA:231222
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Gast... OMIM:201475
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Villous atrophy, Pancytopenia, Reduced natural kill... OMIM:616050
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Short phalanx of finger, Microretrognathia, Tibial dev... OMIM:268305
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619064
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology, Hyperbilirubinemia, Abnormality of the lower urinary t... ORPHA:101009
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Opacification of the corneal stroma, Card... OMIM:231005
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Pseudo-Torch Syndrome 1
Renal insufficiency, Elevated hepatic transaminase, Thrombocytopenia, Cataract, Jaundice, Opacifi... OMIM:251290
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Wolman Disease
Bone-marrow foam cells, Esophageal varix, Steatorrhea, Hepatomegaly, Splenomegaly, Ascites, Hepat... ORPHA:75233
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia, Abnormal liver lo... OMIM:608022
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Hepatome... OMIM:600649
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Micrognathia, Hand clenching, Club-shaped distal femur... ORPHA:56305
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Cardiomeg... OMIM:255120
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Renal malrotation, Mitral valve prolapse, Enlarged kidney, Retinal coloboma, Ventri... ORPHA:500095
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Gastroesophageal reflux, Oligosacchariduria, Cardiomegaly ORPHA:3137
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Viral hepatitis, Gastrointestinal infarctions, Glomerulop... ORPHA:91138
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Aminoaciduria, Cholestasis, Hepatic failure, High palate OMIM:606812
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ul... OMIM:618935
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Increased hemogl... OMIM:263300
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Burkitt Lymphoma
Gastrointestinal hemorrhage, Decreased proportion of CD4-positive helper T cells, Abnormality of ... ORPHA:543
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Gastrointesti... ORPHA:131
Shox-Related Short Stature
Genu valgum, Ulnar radial head dislocation, Tibial bowing, Forearm undergrowth, Lower limb underg... ORPHA:314795
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Anal atresia, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Aplasia/Hypoplasia... ORPHA:1381
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Unilateral renal agenesis, Corneal opacity, Renal insufficiency, Acu... ORPHA:281090
Sitosterolemia 1
Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticu... OMIM:210250
Sialidosis Type 2
Corneal opacity, Nephropathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Lipoyltransferase 1 Deficiency
Increased total bilirubin, Decreased liver function, Elevated hepatic transaminase OMIM:616299
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega... OMIM:603554
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Macrocy... OMIM:619046
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia, Hemolytic anemia, Stomatocytosis OMIM:268150
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Beckwith-Wiedemann Syndrome
Hypercalciuria, Vesicoureteral reflux, Large intestinal polyposis, Cardiomegaly, Ureteral duplica... ORPHA:116
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Decreased serum iron, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Cranioectodermal Dysplasia 2
Renal insufficiency, Atrial septal defect, Elevated hepatic transaminase, Polysplenia, Biliary ci... OMIM:613610
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Steatorrhea, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Ane... OMIM:612714
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Combined Oxidative Phosphorylation Deficiency 31
Cataract, Hyperalaninemia, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Short finger, S... OMIM:250215
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Cholestasis, Hepatic fibrosis, Cataract, Abnormal intestine morphology OMIM:609313
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Macroglossia ORPHA:95717
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Catar... OMIM:614866
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Refsum Disease, Classic
Abnormal renal physiology, Elevated levels of phytanic acid, Cataract, Cardiomegaly, Cardiomyopathy OMIM:266500
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Dilated cardiomyopathy, Abnormal heart morpholog... ORPHA:398124
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Gaucher Disease, Type Ii
Dysphagia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibial bowing, Coxa vara, Flar... OMIM:602111
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Metaphyseal irregularity, Bowing of the long bones, Tibial bowing... OMIM:600785
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Methylcobalamin Deficiency Type Cble
Neutropenia, Glomerulopathy, Pancytopenia, Hemolytic-uremic syndrome, Hypomethioninemia, Hyperhom... ORPHA:2169
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Coloboma, Elevated hepatic transaminase, Abnormal abdomen morphology... OMIM:216360
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Beckwith-Wiedemann Syndrome
Macroglossia, Renal cortical cysts, Enlarged kidney, Cardiomyopathy, Hepatomegaly, Pancreatic hyp... OMIM:130650
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Nuclear cataract, Hypergalactosemi... ORPHA:79237
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Neutropenia, Cor triatriatu... OMIM:612541
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Elevated circulating creatine kinase concentration, Renal insuffic... ORPHA:228308
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Splenomegaly, Hepatomegaly OMIM:615846
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
High palate, Cardiomegaly OMIM:618654
Senior-Loken Syndrome
Nephronophthisis, Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic ... ORPHA:3156
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged... ORPHA:529799
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Pancytopenia,... OMIM:606003
Tangier Disease
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Left ventricular hypertrophy, De... OMIM:205400
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Pure red cell aplasia, Adenocarcinoma of the colon, ... ORPHA:124
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Conjunctivitis, Splenomegaly, Lymphadenopathy OMIM:240500
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Cirrhosis, Interlobular bile duct destruction, Interface hep... ORPHA:562639
Adult-Onset Still Disease
Elevated hepatic transaminase, Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopat... ORPHA:829
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Cirrhosis, Atrial septal defect, Elevated hepatic transamina... OMIM:614576
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Atrial septal defect, Ventricular septal defect, Hyperbilirubinemia, Thrombocytopen... ORPHA:163979
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia OMIM:619170
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Ascites, Cardiomegaly, Bacterial en... ORPHA:615
Fructose Intolerance, Hereditary
Hypophosphatemia, Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hyperpho... OMIM:229600
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Cardiomegaly, Anemia OMIM:618838
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Diamond-Blackfan Anemia 7
Esophagitis, Horseshoe kidney, Ventricular septal defect, Secundum atrial septal defect, Neutrope... OMIM:612562
Primary Biliary Cholangitis
Gastrointestinal inflammation, Cirrhosis, Hepatocellular carcinoma, Biliary cirrhosis, Conjugated... ORPHA:186
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly OMIM:611762
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal... ORPHA:1067
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia, Leukopenia, Fat malabsorption, Abnormal... ORPHA:811
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Cataract, Jaundice, High palate OMIM:614872
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Attrv30M Amyloidosis
Abnormal renal physiology, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly,... ORPHA:42
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cirrhosis, Abnormality of iron homeostasis, Hepatoc... ORPHA:465508
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypoplasia, Bila... OMIM:119800
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal renal physiology, Elevat... ORPHA:540
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color ORPHA:90036
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Alpha-Mannosidosis
Macroglossia, Narrow palate, Corneal opacity, Hepatomegaly, Cataract, Splenomegaly ORPHA:61
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary urgency, Neonatal hyper... OMIM:609727
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Chronic atrophic gastritis... OMIM:616100
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduria, Methylmalonic acidemia, Increase... OMIM:277410
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Buphthalmos, Hiatus hernia, Pancreatic cysts, Developmental glaucoma, Cholestasis, Hepatic fibros... OMIM:610199
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Dysphagia, Abnormal lymphocyte morpholo... ORPHA:100026
Oculocerebral Hypopigmentation Syndrome Of Preus
High palate, Cataract, Hypochromic anemia, High, narrow palate OMIM:257790
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... ORPHA:369840
Microgastria-Limb Reduction Defects Association
Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Secundum atrial septal defec... OMIM:156810
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Coloboma, Ventricular septal defect, Peters anomaly, Cardiomegaly, Patent f... OMIM:618652
Oculoskeletodental Syndrome
Hypocalcemia, Developmental cataract, Macroglossia, Mucopolysacchariduria, Protein-losing enterop... OMIM:618440
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Short finger, Rhizomelia, Metaphyseal cuppin... OMIM:608940
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic... OMIM:615630
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Tibial Hemimelia
Absent tibia OMIM:275220
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly, Recurrent ... OMIM:613489
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Hydrocephalus With Associated Malformations
Tibial bowing, Lower limb undergrowth, Short lower limbs, Micrognathia, Abnormal foot morphology OMIM:236640
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Juvenile Sialidosis Type 2
Abnormal heart morphology, Dysphagia, Visceromegaly, Corneal opacity, Hepatomegaly, Cataract, Pro... ORPHA:93399
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Ane... OMIM:618849
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Elevated hepatic transaminase, Liver abscess, Abnormality of the pancr... ORPHA:54251
Mixed Connective Tissue Disease
Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Nephropathy... ORPHA:809
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Caffey Disease
Periosteal thickening of long tubular bones, Bowing of the legs, Tibial bowing OMIM:114000
Gaucher Disease Type 1
Cirrhosis, Hematuria, Pericardial effusion, Biliary tract obstruction, Pancytopenia, Thrombocytop... ORPHA:77259
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Hypomagnes... ORPHA:699
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Punctate keratitis, Hepatomegaly, Keratoconjunctivitis sicca, Hypere... OMIM:617388
Thrombocytopenia-Absent Radiu