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Gene: Nucb1 MGI:97388

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Gene Summary

Name:
nucleobindin 1
Synonyms:
MTEST82,  B230337F23Rik,  Calnuc

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small spleen Nucb1em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Nucb1em1(IMPC)Mbp HOM Late adult 0.00
abnormal seminal vesicle morphology Nucb1em1(IMPC)Mbp HOM Late adult 0.00
absent seminal vesicle Nucb1em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Nucb1em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Nucb1em1(IMPC)Mbp HOM Late adult 0.00
decreased heart weight Nucb1em1(IMPC)Mbp HOM Late adult 2.23×10-06
decreased anxiety-related response Nucb1em1(IMPC)Mbp HOM Early adult 2.31×10-05
decreased bone mineral content Nucb1em1(IMPC)Mbp HOM Late adult 2.21×10-05
decreased locomotor activity Nucb1em1(IMPC)Mbp HOM Early adult 5.51×10-07
decreased bone mineral density Nucb1em1(IMPC)Mbp HOM Late adult 1.94×10-05
small heart Nucb1em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Nucb1em1(IMPC)Mbp HOM Late adult 0.00
increased grip strength Nucb1em1(IMPC)Mbp HOM Middle aged adult 7.77×10-05
polycystic kidney Nucb1em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Nucb1em1(IMPC)Mbp HOM Late adult 0.00
enlarged seminal vesicle Nucb1em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Nucb1em1(IMPC)Mbp HOM Late adult 0.00
decreased thigmotaxis Nucb1em1(IMPC)Mbp HOM Early adult 1.57×10-05
abnormal skin morphology Nucb1em1(IMPC)Mbp HOM Late adult 0.00
thrombocytopenia Nucb1em1(IMPC)Mbp HOM Late adult 5.72×10-08
abnormal behavior Nucb1em1(IMPC)Mbp HOM Early adult 1.67×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

65 Images

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X-ray

XRay Images Whole Body Lateral Orientation

31 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Nucb1 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 Nucb1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Elevated circulating hepatic tr... OMIM:619902
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac sep... ORPHA:3319
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Transaldolase Deficiency
Abnormality of the kidney, Cirrhosis, Anemia, Abnormal clitoris morphology, Thrombocytopenia, Hep... ORPHA:101028
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Osteoporosis, Splenomegaly, Abnor... ORPHA:100024
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia, Decreased skull ossification, Bicornuate uterus... OMIM:263210
Peroxisome Biogenesis Disorder 2A (Zellweger)
Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d... OMIM:214110
Beta-Thalassemia
Hepatomegaly, Anemia, Reduced bone mineral density, Cholelithiasis, Hypertrophic cardiomyopathy, ... ORPHA:848
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly, Epiphyseal stippling OMIM:614859
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Pericardial effusion, Hyperechogenic kidneys, Ambig... OMIM:613885
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Polycystic kidney dysplasia, Recurrent pancreatiti... OMIM:145001
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Polycystic kidney dysplasia, Ascites, Pericardial effusion, Splenomegaly, Atrial se... OMIM:608776
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Polycystic kidney dysplasia, Recurr... OMIM:613095
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Caroli Syndrome
Abnormality of the kidney, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatit... ORPHA:480520
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Chole... OMIM:610199
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrocele testis, Limited pronation/supination of forearm, Thrombocytopenia, Hepatospleno... OMIM:616738
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Camptodactyl... ORPHA:314588
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Tyrosinemia Type 1
Hepatomegaly, Rickets of the lower limbs, Generalized aminoaciduria, Hepatocellular carcinoma, Ac... ORPHA:882
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno... OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia... ORPHA:84064
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Epiphyseal stippling, Intrahepatic bil... OMIM:614866
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom... OMIM:613313
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia ORPHA:1980
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he... ORPHA:543
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia, Osteoporosis OMIM:613606
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Radioulnar synostosis ORPHA:71289
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Joint contracture, Splenomegaly, Hypogonadism, Flexion contracture OMIM:608540
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Cardiomega... OMIM:608836
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Renal insufficiency, Mitral valve prolapse, Polycystic kidney dysplasia OMIM:173900
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Proteinuria OMIM:189800
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Radioulnar synostosis, Abnorma... ORPHA:1988
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Hepatic cysts, Stage 5 c... OMIM:618061
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... ORPHA:210136
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin... ORPHA:3077
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Hepatomegaly, Anemia, Increased bone mineral density, Reticulocytosis, Thrombocyto... OMIM:611490
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior ORPHA:208441
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Aicardi-Goutieres Syndrome 3
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr... ORPHA:731
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Abnormality of... OMIM:612840
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Reduced bone mineral density, Cholestasis, Splenomegaly, Abnormality of t... ORPHA:172
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Hemolytic-uremic syndrome, Osteoporosis, Elevated circulating alanine aminotransfer... OMIM:614727
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Osteo... ORPHA:79301
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Renal cyst OMIM:615987
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul... ORPHA:54251
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog... ORPHA:228308
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst, Epiphyseal stippling OMIM:614870
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 c... OMIM:615993
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl... OMIM:616217
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Rhyns Syndrome
Osteopenia, Nephronophthisis, Abnormality of the liver, Hypopituitarism, Multicystic kidney dyspl... ORPHA:140976
Babesiosis
Jaundice, Hepatomegaly, Limitation of joint mobility, Leukopenia, Splenomegaly, Thrombocytopenia,... ORPHA:108
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Cardiomyopathy, Splenomegaly, Dilated cardiomyop... OMIM:602390
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi... ORPHA:79312
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:26791
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis, Urethral valve, Hydronep... ORPHA:261290
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Increased bone mineral density, Arthritis, Leukocytosis, S... ORPHA:37748
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Reduced bone mineral density, Recurrent urinary tract infections, Joint stiffness, ... OMIM:620210
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly, Ab... ORPHA:2204
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio... OMIM:619313
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr... OMIM:606003
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Cryptorchidism, Ventricular septal defect, Cystic renal dysplasia OMIM:613730
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Cryptorchidism, Sideroblastic anemia, Thrombocytopenia, A... OMIM:249270
Gaucher Disease Type 1
Ascites, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytopenia, Splenic infarct... ORPHA:77259
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Meckel Syndrome 13
Polycystic kidney dysplasia, Flexion contracture OMIM:617562
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... ORPHA:157
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc... ORPHA:98850
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Arthritis, Abnormal ly... ORPHA:47612
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal cell carci... ORPHA:319487
Kerion Celsi
Lymphadenopathy ORPHA:499
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Card... OMIM:269920
Meckel Syndrome 14
Polycystic kidney dysplasia, Aplasia of the uterus, Decreased calvarial ossification, Ambiguous g... OMIM:619879
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Fractures of the long bones, Abnorm... ORPHA:464329
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Polyc... OMIM:231680
Odontochondrodysplasia 1
Nephronophthisis, Polycystic kidney dysplasia, Delayed ossification of carpal bones, Osteoporosis... OMIM:184260
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Splenomegaly, Recurrent fractures ORPHA:417
Beta-Thalassemia Intermedia
Decreased liver function, Reduced bone mineral density, Proximal tubulopathy, Anemia of inadequat... ORPHA:231222
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Thrombocytop... ORPHA:2123
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Osteoporosis, Mastocytos... ORPHA:98848
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Reduced bone mineral density, Abnormality of the lymphatic sys... ORPHA:1414
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Renal hypoplasia, Hepatic fibrosis OMIM:614091
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Hepatosplenomega... OMIM:209950
Castleman Disease
Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Restrictive cardiomyop... ORPHA:160
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent fractures, Hyperparathyroidism OMIM:618107
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Limita... ORPHA:93476
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, Noct... ORPHA:85450
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia ORPHA:2134
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind... OMIM:619130
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Pancytopenia, Diaphyseal sclerosis, Recurrent fractu... OMIM:259710
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Renal cyst, Gonadal dysgenesis, male, Double ou... OMIM:231060
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
3-Methylglutaconic Aciduria Type 4
Decreased liver function, 3-Methylglutaconic aciduria, Cardiomyopathy, Thrombocytopenia ORPHA:67048
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Cryptorchidism, Joint stiffness, Tetralogy of Fa... ORPHA:1166
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Myelofibrosis, Leukocytosis, Ascites, Thrombocytopenia, Sp... ORPHA:457077
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Jaundice, Elevated circulating hepatic transamin... OMIM:208085
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Osteolysis ORPHA:158014
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi... OMIM:105200
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ... OMIM:619644
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl... OMIM:249000
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Ventricular se... OMIM:601186
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular... ORPHA:290
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat... ORPHA:1909
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra... OMIM:614034
Mirage Syndrome
Anemia, Hypospadias, Radial club hand, Recurrent urinary tract infections, Microphallus, Hypergon... OMIM:617053
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Abnormal heart morphology, Stage 5 chron... OMIM:613390
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux... ORPHA:2237
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Splenomegaly, Multiple renal cysts, Joint hypermobility, Tricus... ORPHA:567
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Neuraminidase Deficiency
Hepatomegaly, Epiphyseal stippling, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopath... OMIM:256550
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy... ORPHA:3032
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Pfapa Syndrome
Arthritis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Joint hypermobility... ORPHA:3033
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Alveolar Echinococcosis
Decreased liver function, Jaundice, Anemia, Cholangitis, Liver abscess, Bone cyst, Abnormal bladd... ORPHA:284
Meckel Syndrome, Type 7
Situs inversus totalis, Atrial septal defect, Multiple glomerular cysts, Multicystic kidney dyspl... OMIM:267010
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Calvarial osteosclerosis, Pancytopenia, Incr... OMIM:259700
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Delayed proximal femoral epiphyseal ossification, ... ORPHA:353298
Rhabdoid Tumor
Renal neoplasm, Anemia, Lymphadenopathy, Hematuria, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Flexion co... ORPHA:85212
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Cardi... OMIM:252920
Arima Syndrome
Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerstitial fibros... OMIM:243910
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholest... OMIM:608104
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Leukopenia, Thrombocytopen... ORPHA:27
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Hajdu-Cheney Syndrome
Osteopenia, Osteolytic defects of the phalanges of the hand, Hypospadias, Pathologic fracture, Po... OMIM:102500
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Thrombocytopenia, Tetralogy of Fallot, Lym... OMIM:618624
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena... OMIM:614576
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Gaucher Disease Type 3
Hepatomegaly, Anemia, Hematuria, Pancytopenia, Increased bone mineral density, Abnormal heart val... ORPHA:77261
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Osteoporo... OMIM:257200
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Pulmonic s... OMIM:610205
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Joubert Syndrome 18
Intrahepatic biliary atresia, Renal cyst, Camptodactyly, Joint hypermobility, Ventricular septal ... OMIM:614815
Gracile Bone Dysplasia
Ascites, Decreased skull ossification, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Thyrocerebrorenal Syndrome
Euthyroid goiter, Nephritis, Thrombocytopenia, Renal insufficiency ORPHA:3327
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis ... OMIM:211600
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Renal cyst, Polycystic liver disease OMIM:109130
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Sengers Syndrome
Osteopenia, 3-Methylglutaconic aciduria, Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Preeclampsia
Abnormality of the kidney, Acute kidney injury, Elevated circulating hepatic transaminase concent... ORPHA:275555
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Pathol... OMIM:230800
Isolated Polycystic Liver Disease
Hepatomegaly, Abnormality of the pancreas, Multiple renal cysts, Polycystic liver disease ORPHA:2924
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Renal cyst, Polycystic liver disease OMIM:174050
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leu... OMIM:231095
Sickle Cell Disease
Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells... OMIM:603903
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati... OMIM:216360
Sialidosis Type 2
Hepatomegaly, Ascites, Osteoporosis, Flexion contracture, Splenomegaly, Nephropathy ORPHA:87876
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Branchiootorenal Syndrome 1
Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ... OMIM:113650
Isolated Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Cryptorchidism OMIM:620365
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Malaria
Acute kidney injury, Thrombocytopenia, Anemia ORPHA:673
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Propionic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Increased level of hippuric acid in urine, Pancytopenia, Hype... OMIM:606054
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ... OMIM:608184
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S... OMIM:618495
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ... OMIM:612541
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Arthritis, Pericarditis, Splenomegaly, Juvenile rheumatoid arthritis ORPHA:85414
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly OMIM:620151
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Stt3B-Cdg
Small scrotum, Cryptorchidism, Thrombocytopenia, Micropenis ORPHA:370924
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-ind... OMIM:155100
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypospadias, Duplicated co... OMIM:301056
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Arthritis, Splenomegaly ORPHA:397596
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Lymphadenopathy OMIM:617772
Distal Deletion 12Q
Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplasia, Patent foramen ov... ORPHA:96149
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Hip contracture, Splenomegaly, Eosin... OMIM:616651
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron defici... OMIM:300855
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Congenital Bile Acid Synthesis Defect Type 2
Rickets, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase ... ORPHA:79303
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Congenital Disorder Of Glycosylation, Type Ix
Small scrotum, Cryptorchidism, Thrombocytopenia, Micropenis OMIM:615597
Fanconi Anemia, Complementation Group A
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal renal morphology, Re... OMIM:227650
Systemic Lupus Erythematosus
Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, Lupus nephritis OMIM:152700
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Myelofibrosis, Abnormal number of alpha granules,... OMIM:139090
Fanconi Anemia, Complementation Group E
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad... OMIM:600901
Roberts Syndrome
Clitoral hypertrophy, Knee flexion contracture, Long penis, Polycystic kidney dysplasia, Wrist fl... ORPHA:3103
Tuberous Sclerosis Complex
Abnormality of the kidney, Cardiac rhabdomyoma, Polycystic kidney dysplasia, Pheochromocytoma, Re... ORPHA:805
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Polycystic kidney dysplasia, Pancreatic fibrosis, Ambiguous genitalia, Hepa... OMIM:263520
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans... ORPHA:781
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Co... OMIM:304790
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Leukopenia, Thrombocyto... OMIM:613989
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr... OMIM:602782
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy OMIM:613987
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Arthri... ORPHA:36412
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Exoc... OMIM:612714
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Arthritis OMIM:611762
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Transcobalamin Deficiency
Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop... ORPHA:859
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Thrombocytopenia, Renal insufficie... ORPHA:289916
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Stiff interphalangeal joints, Arthritis, Hepatocellular carcinoma, Cardi... ORPHA:465508
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Genitopalatocardiac Syndrome
Abnormality of the gallbladder, Hypospadias, Male pseudohermaphroditism, Abnormal mesentery morph... ORPHA:2075
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... OMIM:615234
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Sclerosis of hand bone, Ascites, Pericardial effusi... ORPHA:2905
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... ORPHA:67044
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Wolfram Syndrome 1
Hydroureter, Megaloblastic anemia, Neurogenic bladder, Cardiomyopathy, Sideroblastic anemia, Hydr... OMIM:222300
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormality of t... ORPHA:1834
Mosaic Trisomy 9
Hypoplastic female external genitalia, Abnormal liver lobulation, Dextrocardia, Hypoplasia of pen... ORPHA:99776
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Homocystinuria, Cryptorchidism, Thrombocytopenia, Atrial septal defect, Meth... OMIM:614857
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko... ORPHA:83313
Fanconi Anemia, Complementation Group C
Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Hypergonad... OMIM:227645
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Thrombocytopenia, Proteinuria, Microangiopathic ... ORPHA:54057
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Joint hypermobilit... OMIM:606232
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Abnormal heart morphology, Ovarian cyst, Proteinuria, Hepatic cysts,... OMIM:311200
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Joint hypermobility, Enuresis nocturna, Vesicouret... OMIM:301111
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Abnormality of the urinary system, Arthritis, Lymphopenia, Ascites, N... ORPHA:93552
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Nephropathy, Gout... OMIM:617056
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ventricular septa... OMIM:617021
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Gaucher Disease
Joint stiffness, Leukopenia, Splenomegaly, Pathologic fracture, Osteolysis, Pancytopenia, Increas... ORPHA:355
Free Sialic Acid Storage Disease
Hepatomegaly, Reduced bone mineral density, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly ORPHA:834
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,... ORPHA:264580
Farber Lipogranulomatosis
Lipogranulomatosis, Hepatomegaly, Osteolytic defects of the phalanges of the hand, Limitation of ... OMIM:228000
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin... OMIM:618892
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl... OMIM:619151
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Splenomegaly, Acute mye... ORPHA:2585
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplen... ORPHA:263501
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow... ORPHA:549
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Leukocytosis, Abnormal granu... ORPHA:1451
Stormorken Syndrome
Anemia, Hematuria, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Trisomy X
Renal hypoplasia/aplasia, Precocious puberty, Joint hypermobility, Atrial septal defect, Ventricu... ORPHA:3375
Brucellosis
Intrarenal abscess, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Septic arthritis, Thromb... ORPHA:1304
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Arthritis, Joint stiffne... ORPHA:809
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Osteopenia, Anemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Bone marrow h... OMIM:613990
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thrombocytopenia, Neutro... OMIM:598500
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Kn... ORPHA:2035
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Eleva... OMIM:607765
Atelis Syndrome 1
Anemia, Thrombocytopenia, Leukopenia, Atrial septal defect, Ventricular septal defect OMIM:620184
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An... ORPHA:540
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Megaloblastic anemia, Ventricular septal defect, Thrombocytopenia ORPHA:49827
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula... ORPHA:231226
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Hepar... OMIM:252900
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl... OMIM:613490
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Vesicoureteral refl... OMIM:603467
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Vacterl/Vater Association
Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal cardia... ORPHA:887
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros... OMIM:615630
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul... ORPHA:79124
Thymic Neuroendocrine Tumor
Osteopenia, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, C... ORPHA:97289
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Prolidase Deficiency
Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple... OMIM:170100
Lysinuric Protein Intolerance
Argininuria, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra... ORPHA:470
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Increased bone mineral density, Leuk... ORPHA:77297
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin... OMIM:251880
Cinca Syndrome
Anemia, Lymphadenopathy, Arthritis, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena... OMIM:137920
Fanconi Anemia, Complementation Group D2
Annular pancreas, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Pelvic kidn... OMIM:227646
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Camptodactyly, Thrombocytopenia, Ventricular septal defect, Aortic ... OMIM:619980
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... OMIM:236700
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Elevated circulating hepatic transaminase concentra... ORPHA:182050
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Porphyria, Congenital Erythropoietic
Osteopenia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Os... OMIM:263700
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubul... OMIM:212065
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Infection associated neutropenia, Elevated circulating hepatic trans... ORPHA:445038
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hepatic fibrosis, He... OMIM:602579
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Muscular ventricular septal defect, Delayed epiphyseal ossification, Shoulder flexion contracture... OMIM:210710
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Thrombocytopenia, Hepatosplenomegaly, Left ventricular... ORPHA:79330
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath... ORPHA:231214
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Specific Granule Deficiency 2
Osteopenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules, Neutropenia OMIM:617475
Epidermal Nevus Syndrome
Osteopenia, Polycystic kidney dysplasia ORPHA:35125
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Meacham Syndrome
Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian... ORPHA:3097
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Arthritis, Parotitis, Increased B cell coun... OMIM:620376
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, A... OMIM:617591
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ... OMIM:602450
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Viral hepatitis,... ORPHA:91138
Thyrocerebroretinal Syndrome
Goiter, Nephritis, Thrombocytopenia OMIM:274240
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Giant platelets, Anemia, Hemolytic-uremic syndrome, Hypospadias, Camptodactyly, Hydro... OMIM:611209
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Anemia, Elevated circulating hepatic transaminase concentration, Accessory ... OMIM:620005
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V... OMIM:615895
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morphology, Pancreatic lymphangi... ORPHA:1655
X-Linked Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Arthritis, Thrombocytope... ORPHA:47
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure ORPHA:75234
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Osteopenia, Anemia, Pancytopenia, Focal segmental glomerulosclerosis,... OMIM:242900
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Thrombocytopenia, Glomerulonephritis OMIM:314000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Lymphopenia,... OMIM:616100
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C... ORPHA:99812
Zellweger Syndrome
Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Epiphyseal stippling, Cryptorchidism, ... ORPHA:912
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas physiology, Apla... ORPHA:93111
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocyti... ORPHA:77293
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal... OMIM:614922
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A... OMIM:612783
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Leukopenia, Stage 5 chronic kidney ... OMIM:251000
Joubert Syndrome 39
Joint contracture of the 5th finger, Polycystic kidney dysplasia, Hypoplastic left heart OMIM:619562
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly ORPHA:75563
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancyto... OMIM:259720
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Isovaleric Acidemia
Pancytopenia, Hyperglycinuria, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Elevate... OMIM:243500
Noonan Syndrome 4
Ureteral duplication, Hypertrophic cardiomyopathy, Cryptorchidism, Pulmonic stenosis, Hydronephro... OMIM:610733
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Floating-Harbor Syndrome
Atrial septal defect, Mesocardia, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorch... ORPHA:2044
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:300972
Wilson Disease
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Joint hypermobility, Hepatic steat... OMIM:277900
Renal Hypoplasia, Bilateral
Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Re... ORPHA:97362
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra... OMIM:260400
Scrub Typhus
Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Microvesicular he... OMIM:611126
Senior-Boichis Syndrome
Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Cholestasis,... ORPHA:84081
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Cardiomyopathy, H... ORPHA:292
Meckel Syndrome, Type 10
Hypospadias, Camptodactyly, Renal cyst, Micropenis, Malformation of the hepatic ductal plate OMIM:614175
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Enlarged labia minora, Ankle flexion contracture, Hypospadias, Long penis, ... OMIM:268300
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Reduced bone mineral de... OMIM:617052
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Atrial septal defect, Ventricular septal defect, Renal cyst OMIM:263630
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Pagod Syndrome
Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermap... ORPHA:991
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Elbow flexion contracture, Aplasia of the bladder, Bicornuate uterus... OMIM:200980
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Pediatric-Onset Graves Disease
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Craniosynostosis... ORPHA:525731
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Fused cervical vertebrae, Aplasia of the uterus, Thrombocytopenia, Tet... ORPHA:3320
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Arthritis, Epis... OMIM:210250
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Recurrent fractures, Abnormal testis m... ORPHA:1775
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula... OMIM:603553
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Recurrent fractures, Ca... ORPHA:168569
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Camptodactyly OMIM:619751
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Joint stiffness, Splenomegaly, Hepar... OMIM:252930
Shwachman-Diamond Syndrome
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro... ORPHA:811
Congenital Syphilis
Myocarditis, Periostitis, Pancreatitis, Anemia, Lymphadenopathy, Synovitis, Nephrotic syndrome, P... ORPHA:499009
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc... OMIM:610377
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Hyposegmentation of neutrophil nuclei, Thrombocytopen... OMIM:169400
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Atrial septal defect, Micropenis OMIM:616546
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Abnormal renal co... OMIM:617397
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Farber Disease
Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Arthritis, Intr... ORPHA:333
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Hepatomegaly, Generalized aminoaciduria, Delayed epiphyseal ossification, Osteomalacia, ... ORPHA:289157
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Femoral-Facial Syndrome
Limited elbow movement, Abnormal renal collecting system morphology, Polycystic kidney dysplasia,... OMIM:134780
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the kidney, Osteolysis involving bones of the lower limbs, Osteolysis involving bo... ORPHA:464321
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Meckel Syndrome, Type 3
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati... OMIM:607361
Bardet-Biedl Syndrome 17
Situs inversus totalis, Polyuria, Dextrocardia, Renal cyst, Hypogonadism, Stage 5 chronic kidney ... OMIM:615994
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Joint hypermobility, Penile freckling, Hydrocele testis OMIM:605309
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Hydronephrosis, Splenomegaly,... OMIM:235255
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ... OMIM:608013
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic... ORPHA:2348
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Craniosynostosis, Hepatic fibrosi... OMIM:200995
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Flexion contracture, Splenomegaly OMIM:619183
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu... ORPHA:139402
Meckel Syndrome, Type 6
Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cystic ... OMIM:612284
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Relapsing Fever
Acute kidney injury, Jaundice, Anemia, Hematuria, Elevated circulating hepatic transaminase conce... ORPHA:91547
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu... OMIM:232220
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Arthritis, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis... ORPHA:342
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin... ORPHA:3260
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Prolonged ... OMIM:225750
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Overlap Myositis
Abnormality of the kidney, Elevated circulating hepatic transaminase concentration, Arthritis, Rh... ORPHA:206572
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Myelofibrosis, Splenomegaly, Extrame... OMIM:254450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas... ORPHA:79240
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoac... OMIM:603585
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased B cell count, Incre... ORPHA:98813
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo... OMIM:276700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hypospadias, Camptodactyly, Pulmonic stenosis, Increased mean platelet... OMIM:616737
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ... ORPHA:50918
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Lambdoidal craniosynostosis, Hydroureter, Hypercalciuria, Restrictive cardiomyopathy,... OMIM:615398
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Renal cyst, Bile duct proliferation OMIM:611134
Renal Dysplasia
Pelvic mass, Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary inco... ORPHA:93108
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Osteopenia, B lymphocytopenia, Neutropenia in presence of anti-neutr... ORPHA:391487
Drug-Induced Lupus Erythematosus
Hematuria, Anemia, Pericarditis, Pericardial effusion, Thrombocytopenia ORPHA:231111
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Renal cyst, Cryptorchidism, Craniosynostosis, Ventricular septal defect, Horseshoe kidney ORPHA:166035
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B... ORPHA:505248
Verheij Syndrome
Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Joint hypermobility, Ventricula... OMIM:615583
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Osteoporosis, Bile... OMIM:619525
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
15q26 overgrowth syndrome
Abnormality of the kidney, Craniosynostosis, Polycystic kidney dysplasia, Vesicoureteral reflux, ... DECIPHER:81
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Shigellosis
Myocarditis, Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Arthritis, Splenic absce... ORPHA:810
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Hypertrophic cardiomyopathy, Pericardial effusion, Thrombocy... OMIM:618775
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Anemia, Renal cell carcinoma, Enlarged polycystic ovaries, Abnorm... ORPHA:2869
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Immunodeficiency 27B
Salmonella osteomyelitis, Generalized lymphadenopathy, Osteomyelitis OMIM:615978
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Cystathioninuria, Homocystinuria, Megaloblastic... OMIM:277380
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal hear... ORPHA:488618
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypergonadotropic hypogonadism, Renal agenesis, Thrombocytopenia, Hypogonadism, ... OMIM:300514
Diaphanospondylodysostosis
Absent in utero rib ossification, Enlarged kidney, Abnormal liver lobulation, Tracheomalacia, Nep... OMIM:608022
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovar... ORPHA:79083
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Campomelia, Cumming Type
Hepatomegaly, Pancreatic cysts, Abnormally ossified vertebrae, Multiple renal cysts, Multicystic ... ORPHA:1318
Lysinuric Protein Intolerance
Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Recurrent fractures, Osteop... OMIM:222700
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Tarsal synostosis, Glandular hypospadias, Urogenital ... ORPHA:2473
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Restlessness ORPHA:100924
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu... ORPHA:520
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly, Hepatic failure ORPHA:664
Trisomy 13
Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Displacement of the urethral meatus, M... ORPHA:3378
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture OMIM:612952
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Radioulnar synostosis ORPHA:3270
Nephroblastoma
Nephroblastoma, Neoplasm of the liver, Hematuria, Lymphadenopathy ORPHA:654
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Elevated circulating hepatic transaminase concentration, Multiple renal... OMIM:614883
Fanconi Anemia
Renal hypoplasia/aplasia, Reduced bone mineral density, Abnormal renal morphology, Leukopenia, Hy... ORPHA:84
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve prolapse, Hypogonadis... ORPHA:251066
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Kleefstra Syndrome
Supernumerary nipple, Hypospadias, Hypoplasia of penis, Tracheomalacia, Vesicoureteral reflux, Li... ORPHA:261494
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Multip... ORPHA:66637
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
D-Bifunctional Protein Deficiency
Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, R... OMIM:261515
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab... ORPHA:1333
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... OMIM:615688
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Familial Mediterranean Fever
Hepatomegaly, Arthritis, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomega... OMIM:249100
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Osteoporosis, Bone marrow ... OMIM:127550
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Bifid scrotum, Renal cyst, Pulmonic stenosis, Micropenis, Nephroblastoma, Ambiguous ... OMIM:257300
Fibular Hemimelia
Abnormal bone ossification, Limited knee flexion/extension, Joint hypermobility, Limitation of jo... ORPHA:93323
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalciuria, Elbow flexion contracture, Mucopolysacchariduria, Renal agenesis, S... OMIM:618440
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Abnormal heart valve morphology, Hypertrophic cardiomyopath... OMIM:230500
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hepatomegaly, Epiphyseal stippling, Hyperoxaluria, Renal cyst, Hepatic fibrosis OMIM:601539
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Elevated circulating hepatic transaminase concentration, Renal insuffic... ORPHA:261265
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Thrombocytopenia, Leukopenia, Hyperechogenic ... OMIM:613845
Joubert Syndrome With Hepatic Defect
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici... ORPHA:1454
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil... ORPHA:31150
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia, Hepat... OMIM:224230
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid... ORPHA:1332
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot... OMIM:612925
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa... OMIM:187900
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Rickets, Increased susceptibility to fractures, Reduced bone mi... ORPHA:18
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, Renal cyst, ... ORPHA:99880
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Hepatomegaly, Fused cervical vertebrae, Neutrophilia, Osteomyelitis, Spl... OMIM:612852
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Lig4 Syndrome
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Cryptorchidism, Micropenis OMIM:606593
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Dilated cardiomyopathy, Methylmalonic acidu... OMIM:251110
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati... OMIM:619573
Trisomy 1Q
Congenital megaureter, Cryptorchidism, Camptodactyly of finger, Hydronephrosis, Small scrotum, Am... ORPHA:261344
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Thrombocytopenia, Hydrocele testis ORPHA:96181
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hypertrophic card... ORPHA:99901
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ... OMIM:557000
Papa Syndrome
Arthritis, Proteinuria, Limitation of joint mobility, Lymphadenopathy ORPHA:69126
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Myelofibrosis, Bone marrow hypocellularity, ... ORPHA:86843
Multiple Myeloma
Osteopenia, Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic s... ORPHA:29073
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Meckel Syndrome
Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asp... ORPHA:564
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Epiphyseal stippling OMIM:614862
Toxic Epidermal Necrolysis
Pancreatitis, Anemia, Neutropenia, Abnormal vagina morphology, Elevated circulating hepatic trans... ORPHA:537
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure ORPHA:75233
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Von Willebrand Disease
Abnormal platelet function, Abnormal mitral valve morphology, Joint hemorrhage, Thrombocytopenia,... ORPHA:903
Parathyroid Carcinoma
Parathyroid carcinoma, Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephro... ORPHA:143
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Clitoral hypertrophy, Cystic angiomatosi... OMIM:269700
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Coccidioidomycosis
Abnormality of the kidney, Abnormality of the female genitalia, Mediastinal lymphadenopathy, Panc... ORPHA:228123
Adams-Oliver Syndrome
Cirrhosis, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital hepatic fibrosi... ORPHA:974
Mcleod Syndrome
Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno... OMIM:300842
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormality of the kidney, Abnormal heart valve morphology, Arthritis, Thrombocytope... ORPHA:464343
Genitopatellar Syndrome
Clitoral hypertrophy, Knee flexion contracture, Arthrogryposis multiplex congenita, Hip contractu... ORPHA:85201
Good Syndrome
Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infec... ORPHA:169105
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j... OMIM:274150
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Thrombocytopenia 6
Osteoporosis, Thrombocytopenia, Myelofibrosis OMIM:616937
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Arthritis, Hypertrophic cardiomyopathy, Hepatitis, Nephrotic ... OMIM:615846
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati... OMIM:613610
Mosaic Trisomy 1
Renal cortical cysts, Elbow flexion contracture, Renal cyst, Camptodactyly of finger, Knee joint ... ORPHA:1692
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot... OMIM:612926
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... OMIM:608233
Cornelia De Lange Syndrome 1
Limited elbow extension, Ectopic kidney, Hypospadias, Abnormal renal morphology, Hypoplastic male... OMIM:122470
Sepsis In Premature Infants
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Leukocytosis, Thrombocytopenia, Splenom... ORPHA:90051
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def... OMIM:222470
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Bardet-Biedl Syndrome 6
Vaginal atresia, External genital hypoplasia, Hypospadias, Renal cyst OMIM:605231
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Thrombocytopenia, Prot... OMIM:612924
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr... OMIM:608594
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Alg12-Cdg
Abnormal bone ossification, Muscular ventricular septal defect, Elevated circulating hepatic tran... ORPHA:79324
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Arthritis, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myoca... ORPHA:32960
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Fryns Syndrome
Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, Cryptorchidism, ... OMIM:229850
Chédiak-Higashi Syndrome
Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ... ORPHA:167
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Unilateral renal agenesis, Pancytopenia, Tracheomalacia, Vesicoureteral reflux, Ventricul... OMIM:620654
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Hepatomegaly, Rectovaginal fistula, Truncus arteriosus, Perineal fistul... ORPHA:2538
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Hepatomegaly, Anemia, Pancytopenia, Renal tubular acidosis, Secondary hyperparathy... ORPHA:2785
Smith-Kingsmore Syndrome
Cryptorchidism, Thrombocytopenia OMIM:616638
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia, Patent foramen ovale, Vesicoureteral reflux, Ano... OMIM:616368
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Goiter, Thrombocytopenia, Leukocytosis ORPHA:83601
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Hepatic st... OMIM:270400
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Early ossification of capital femoral epiphyses, Renal insufficiency, Renal cyst, Bile ... OMIM:208500
Neuroblastoma
Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ... ORPHA:635
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement memb... OMIM:301050
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Neutropenia, Bone marrow hypocellularity, Thrombocytopenia, Aminoaciduria, Ketonuria OMIM:614520
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Acute kidney injury, Hepatomegaly, Anemia, Cholangitis, Ureteral duplication, Nephron... OMIM:266920
Graft Versus Host Disease
Limited elbow movement, Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminas... ORPHA:39812
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Hypoparathyroidism, Congenital megaureter, Joint hypermobility, Hypercalciuria, Restr... ORPHA:369837
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hypospadias, Hyperextensibility of the finger joints, Cryptorchidism, Hydronephrosis, Thr... ORPHA:163979
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Atrial septal defect, Ureteral duplication, Anemia, Atrioventricular canal def... OMIM:274000
Dyskeratosis Congenita, X-Linked
Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Phimosis, Osteoporosis, Dec... OMIM:305000
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate... ORPHA:158048
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Hydronephrosis, Thrombocytopenia OMIM:300048
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Cryptorchidism, Thrombocytopenia, Dilated cardiomyopathy, Vent... ORPHA:261250
Ivic Syndrome
Limited elbow movement, Rectovaginal fistula, Limited interphalangeal movement, Leukocytosis, Thr... OMIM:147750
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Hemolytic-uremic syndrome, Schistocytosis, Moderate proteinuria, Leukopenia, Thrombocytop... OMIM:301110
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Hyper-Igd Syndrome
Lymphadenopathy, Arthritis, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Spleno... OMIM:260920
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure... ORPHA:2461
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system... ORPHA:538
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Abnormality of the lymphatic system, Total anomalous pulm... ORPHA:487796
Mody
Abnormality of the kidney, Hepatocellular adenoma, Pancreatic hypoplasia, Renal cyst, Glycosuria,... ORPHA:552
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... OMIM:120330
Necrotizing Enterocolitis
Leukocytosis, Ascites, Abnormal heart morphology, Thrombocytopenia, Peritonitis, Neutropenia ORPHA:391673
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Reduced bone mineral density, Hip contracture, Knee flexion contractur... OMIM:620232
Snakebite Envenomation
Hypopituitarism, Acute kidney injury, Thrombocytopenia ORPHA:449285
Crimean-Congo Hemorrhagic Fever
Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Stiff neck, Pancytopenia... ORPHA:99827
Down Syndrome
Renal hypoplasia/aplasia, Atrioventricular canal defect, Leukemia, Abnormality of the lymphatic s... ORPHA:870
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Periportal fibrosis, Patent foramen ovale, Hypoplastic nipples, Ascites, Renal hypo... OMIM:269860
Jacobsen Syndrome
Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Cryptorchidism, Thrombocyt... OMIM:147791
Proteus-Like Syndrome
Hyperostosis, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroi... ORPHA:2969
Mucopolysaccharidosis Type 6
Mucopolysacchariduria, Abnormal heart valve morphology, Splenomegaly, Joint stiffness ORPHA:583
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Ureteral duplication, Hypospadias, Hydroureter, Hypoplasia of penis, Supernumerary ... ORPHA:373
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Thrombocytopeni... ORPHA:46059
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Osteomyelitis, Splenomegaly, Impaire... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Osteomyelitis, Splenomegaly, Impaire... OMIM:233710
Hyperparathyroidism, Neonatal Severe
Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Recurrent fractures, Primary hyperparathyroidism,... OMIM:239200
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Hajdu-Cheney Syndrome
Osteopenia, Hepatomegaly, Hypospadias, Decreased skull ossification, Osteoporosis, Aortic valve s... ORPHA:955
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a... OMIM:619743
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Polycythemi... OMIM:193300
Meckel Syndrome, Type 5
Renal cyst, Bile duct proliferation OMIM:611561
Bacterial Toxic-Shock Syndrome
Myocarditis, Renal insufficiency, Recurrent urinary tract infections, Arthritis, Increased circul... ORPHA:36234
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Common Variable Immunodeficiency
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen... ORPHA:1572
Scheie Syndrome
Hepatomegaly, Limitation of joint mobility, Mucopolysacchariduria, Joint stiffness, Splenomegaly ORPHA:93474
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Wiskott-Aldrich Syndrome
Acute leukemia, Glomerulopathy, Anemia, Hyperostosis, Abnormal eosinophil morphology, Arthritis, ... ORPHA:906
Trisomy 20P
Abnormality of the kidney, Reduced bone mineral density, Hypospadias, Abnormality of the ureter, ... ORPHA:261318
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Renal hypoplasia, Ureteral agenesis, Renal dysplasia, Arthrogryposis multiplex congenita OMIM:236500
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Osteomyelitis, Splenomegaly, Impaire... OMIM:233690
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostati... ORPHA:449432
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior ORPHA:309246
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Hepatomegaly, Anemia, Lymphadenopathy, Reduced bone mineral density, Splenomegaly,... ORPHA:667
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv... ORPHA:514
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hydronephrosis, Bicuspid aortic valve, Joint hypermobility, Ventricula... OMIM:620511
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Anemia, Ascites, Camptodactyly, Thromboc... ORPHA:79325
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Arthritis, Limitation of joint mobility, Peritonitis ORPHA:343
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... OMIM:614946
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone marrow hypocellularit... ORPHA:86839
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Sarcoidosis
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc... ORPHA:797
1P36 Deletion Syndrome
Abnormality of the kidney, Annular pancreas, Abnormal female external genitalia morphology, Hypos... ORPHA:1606
Tuberous Sclerosis 1
Adenoma sebaceum, Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Precocious puberty, Pulm... OMIM:191100
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Gout, Stage ... OMIM:603860
Diffuse Alveolar Hemorrhage
Hematuria, Anemia, Leukocytosis, Thrombocytopenia, Proteinuria ORPHA:90060
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos... ORPHA:293173
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Hennekam Syndrome
Lymphadenopathy, Ectopic kidney, Ascites, Pericardial effusion, Camptodactyly of finger, Lymphang... ORPHA:2136
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Hepatomegaly, Anemia, Pancytopenia, Elevated urine ... OMIM:251100
Stevens-Johnson Syndrome
Pancreatitis, Anemia, Elevated circulating hepatic transaminase concentration, Dysuria, Thrombocy... ORPHA:36426
Familial Tumoral Calcinosis
Hyperostosis, Hepatomegaly, Nephrocalcinosis, Splenomegaly ORPHA:53715
Congenital Erythropoietic Porphyria
Osteopenia, Increased urinary porphobilinogen, Purple urine, Porphyrinuria, Red-brown urine, Oste... ORPHA:79277
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with ph... OMIM:614162
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio... OMIM:600740
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp... OMIM:181000
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone marrow hypocellu... ORPHA:508542
Pachydermoperiostosis
Hepatomegaly, Anemia, Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility,... ORPHA:2796
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Enlarged labia minora, Polycystic kidney dysplasia, Abnormal external genit... ORPHA:3404
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal... ORPHA:116
Dengue Fever
Thrombocytopenia, Hepatomegaly, Leukopenia, Ascites ORPHA:99828
Lujo Hemorrhagic Fever
Myocarditis, Stiff neck, Elevated circulating hepatic transaminase concentration, Fulminant hepat... ORPHA:319213
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent foramen ovale, Vesicoureteral reflux, Laryngotracheomalacia, Renal cyst, Microphallus, Cry... OMIM:618454
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology, Craniosynostosis, Atri... ORPHA:261197
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Congenital hepatic fibrosis, Multicystic kidney dysplasia ORPHA:2031
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... ORPHA:37042
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Chromosome 17Q12 Deletion Syndrome
Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th... OMIM:614527
Immune Thrombocytopenia
Hematuria, Thrombocytopenia ORPHA:3002
Harrod Syndrome
Joint hypermobility, Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Lymphadenopathy, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Joint sti... ORPHA:85408
Blue Rubber Bleb Nevus
Abnormality of the liver, Pathologic fracture, Thrombocytopenia, Iron deficiency anemia OMIM:112200
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Juvenile rheumatoid arthritis, Tubulointerstitial fibrosis, T lymphocytopenia, R... OMIM:607944
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100080
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Flexion c... OMIM:256040
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Truncus arteriosus, Hypop... OMIM:188400
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Pallister-Hall Syndrome
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Panhypopituit... OMIM:146510
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Joint hyp... ORPHA:1475
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi... OMIM:620233
Primary Sjögren Syndrome
Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem... ORPHA:289390
Tuberous Sclerosis 2
Adenoma sebaceum, Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Precocious puberty, Rena... OMIM:613254
Polycythemia Vera
Acute leukemia, Hepatomegaly, Myelofibrosis, Leukocytosis, Portal hypertension, Portal vein throm... ORPHA:729
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar synostosis, Limited prona... OMIM:605432
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation OMIM:603194
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aortic valve calcifica... ORPHA:2072
Ivic Syndrome
Rectovaginal fistula, Synostosis of carpal bones, Leukocytosis, Joint stiffness, Thrombocytopenia... ORPHA:2307
Joubert Syndrome 20
Renal cyst OMIM:614970
Avian Influenza
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, L... ORPHA:454836
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Cry... ORPHA:464311
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Anemia, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Renal hypo... OMIM:618460
Mycosis Fungoides
Lymphadenopathy OMIM:254400
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Hypoplastic nipples, Camptodactyly, Thrombocytopenia, Atrial septal defect ORPHA:261323
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Atelosteogenesis Type I
Abnormal ossification involving the femoral head and neck, Absent or minimally ossified vertebral... ORPHA:1190
Quebec Platelet Disorder
Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Blau Syndrome
Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Limitation of joint mobility, Synovi... ORPHA:90340
Von Hippel-Lindau Disease
Myocarditis, Neoplasm of the pancreas, Elevated urinary catecholamine level, Adrenal pheochromocy... ORPHA:892
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal... ORPHA:33226
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ascites, Thrombocytopenia, Splenomegaly, Micronodular cirrhosis, Flexion contractur... OMIM:301072
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Anemia, Hydroureter, Duplicated collecting system, Abnormality... ORPHA:79404
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Thrombocytopenia, Leukopenia, Flexion contracture, Hepatic steatosis... OMIM:616271
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Joint stiffness, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, F... OMIM:615934
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Neoplasm of the heart, Megacystis, Cryptorchidism, Multicystic kidney dysplasia ORPHA:2241
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 3... OMIM:612394
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy, Oligoarthritis OMIM:142680
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Ventricu... OMIM:220500
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Aortic valve stenosis, Bone marrow hypocellularity, Hydronephro... ORPHA:2308
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Tetralogy of Fallot, Crypt... ORPHA:2059
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Thrombocytopenia, Cryptorchidism, Micropenis OMIM:619005
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,... ORPHA:100078
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Zika Virus Disease
Arthritis, Thrombocytopenia ORPHA:448237
Dyrk1A-Related Intellectual Disability Syndrome
Breast hypoplasia, Unilateral renal agenesis, Hypospadias, Multiple joint contractures, Pelvic ki... ORPHA:464306
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... OMIM:102700
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Hereditary Orotic Aciduria
Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Osteomyelitis, Splenomegaly... OMIM:306400
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia, Pathologic fract... OMIM:612199
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Thro... OMIM:617941
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Hypoplastic left heart OMIM:618829
Behçet Disease
Glomerulopathy, Pancreatitis, Lymphadenopathy, Arthritis, Pericarditis, Endocarditis, Splenomegal... ORPHA:117
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens... ORPHA:309854
Dubowitz Syndrome
Abnormal female external genitalia morphology, Anemia, Hypospadias, Hypoparathyroidism, Cryptorch... ORPHA:235
Penile Agenesis
Atrial septal defect, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Cryptorc... ORPHA:49
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:99826
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Vaginal atresia ORPHA:3301
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Reticulocytosis, Thrombocytopenia, Microa... OMIM:235400
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, N... ORPHA:2298
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Homocystinuria, Cystathi... OMIM:277400
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia OMIM:277480
Immunodeficiency 22
Anemia, Ascites, Pericarditis, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia OMIM:615758
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... ORPHA:2330
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Splenomegaly, Cranial hyperostosis OMIM:612918
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp... ORPHA:100082
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic s... OMIM:254900
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Acquired Purpura Fulminans
Thrombocytopenia, Hepatic failure ORPHA:49566
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Abdominal mass, Hydronephrosis, Vaginal atresia, Hypogonadism, Cys... OMIM:615989
Hereditary Folate Malabsorption
Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Thrombocytopenia, Eosinop... ORPHA:90045
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym... ORPHA:83471
Camurati-Engelmann Disease
Hepatomegaly, Anemia, Hyperostosis, Limitation of joint mobility, Hypertrophic cardiomyopathy, Co... ORPHA:1328
Holocarboxylase Synthetase Deficiency
Organic aciduria, Thrombocytopenia ORPHA:79242
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Malakoplakia
Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,... ORPHA:556
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... ORPHA:2973
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Craniosynostosis, Ventricular septal defect, Horseshoe kidney, Renal cyst OMIM:250410
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Jaundice, Hemolytic-uremic syndrome, Megaloblastic anemia, Abnormal heart morphol... ORPHA:79282
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Arthritis, N... ORPHA:51
Robinow Syndrome
Fused thoracic vertebrae, Pulmonary valve atresia, Tricuspid atresia, External genital hypoplasia... ORPHA:97360
Oculocerebrorenal Syndrome Of Lowe
Joint stiffness, Nephrocalcinosis, Multiple renal cysts, Joint hypermobility, Hyperparathyroidism... ORPHA:534
Histiocytoid Cardiomyopathy
Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,... ORPHA:565612
Schinzel-Giedion Syndrome
Stiff elbow, Annular pancreas, Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the urete... ORPHA:798
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity ORPHA:3322
Ebola Hemorrhagic Fever
Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopenia, Hepatitis ORPHA:319218
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia OMIM:620475
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Truncus arteriosus, Renal cyst, Tetralogy of Fallot, Partial anomalous pulmona... OMIM:617478
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Hepatomegaly, Anemia, Abnormal trabecular bone morphology, Splenom... OMIM:612301
Lymphatic Malformation 6
Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis OMIM:616843
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... OMIM:601399
Mosaic Variegated Aneuploidy Syndrome
Ascites, Vaginal neoplasm, Acute lymphoblastic leukemia, Nephroblastoma, Ambiguous genitalia, Atr... ORPHA:1052
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Alagille Syndrome 1
Atrial septal defect, Cirrhosis, Elevated circulating hepatic transaminase concentration, Duplica... OMIM:118450
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... OMIM:620565
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly, Duplication of renal pelvis, Tr... OMIM:312870
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch... ORPHA:100075
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Deeah Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Anterior pituitary hypoplasi... OMIM:619004
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Bardet-Biedl Syndrome
Elevated circulating hepatic transaminase concentration, Hypoplasia of penis, Hypoplasia of the o... ORPHA:110
Distal Deletion 15Q
Generalized joint hypermobility, Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Hypop... ORPHA:1596
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the... ORPHA:79078
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Arthritis, Decreased proportion ... OMIM:619381
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal cyst, Cryptorch... OMIM:616975
Joubert Syndrome 14
Ventricular septal defect, Renal cyst OMIM:614424
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Card... OMIM:610717
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomega... OMIM:617913
Hellp Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Decreased mean corp... ORPHA:244242
Diamond-Blackfan Anemia 21
Thrombocytopenia, Secundum atrial septal defect, Anemia, Erythroid hypoplasia OMIM:620072
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Arthritis, Leuk... ORPHA:2331
2Q37 Microdeletion Syndrome
Supernumerary nipple, Tracheomalacia, Nephroblastoma, Joint hypermobility, Multicystic kidney dys... ORPHA:1001
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Pancreatitis, Anuria, Leukocytosis, Reticulocytosis, Thrombocytopenia, Hemog... ORPHA:90038
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Renal cyst, Transient neutropenia, Bifid ureter, Mitral valve prolapse... OMIM:617107
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi... ORPHA:509
Cystinosis, Nephropathic
Low-molecular-weight proteinuria, Polyuria, Rickets, Hepatomegaly, Hematuria, Hypophosphatemic ri... OMIM:219800
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Thrombocytopenia ORPHA:457351
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Unicoronal synostosis, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism OMIM:616300
Tetrasomy 9P
Jaundice, Dextrocardia, Biliary atresia, Recurrent urinary tract infections, Patent foramen ovale... ORPHA:3310
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Camptodactyly of finger, Hydronephrosis, Coarse metaphyseal trabeculari... ORPHA:2092
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation OMIM:614074
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Acute kidney injury, Pancreatitis, Anuria, Nephrotic range proteinuria, Leukocytosis... ORPHA:544482
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Decreased testicular size, Camptodactyly of finger, Hydronephrosis, Hypogon... ORPHA:261349
Williams Syndrome
Hypoplasia of penis, Pulmonic stenosis, Joint stiffness, Nephrocalcinosis, Multiple renal cysts, ... ORPHA:904
Recon Progeroid Syndrome
Joint hypermobility, Thrombocytopenia, Anemia OMIM:620370
Joubert Syndrome 2
Hypoplastic male external genitalia, Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Pyuria, Arthritis, Thrombocytopenia, Leukopenia, Proteinuria, Hemolyt... ORPHA:536
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Abnormal tricuspid valve morphology, Hypoplasia of penis, ... ORPHA:1507
Paroxysmal Nocturnal Hemoglobinuria
Acute kidney injury, Jaundice, Anemia, Pancytopenia, Hemosiderinuria, Abnormal erythrocyte enzyme... ORPHA:447
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Mitral stenosis, Renal cyst OMIM:617260
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia ORPHA:572798
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def... ORPHA:500095
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites ORPHA:139411
Tick-Borne Encephalitis
Stiff neck, Elevated circulating hepatic transaminase concentration, Leukocytosis, Thrombocytopen... ORPHA:297
Hemorrhagic Fever-Renal Syndrome
Acute kidney injury, Anemia, Decreased glomerular filtration rate, Acute tubulointerstitial nephr... ORPHA:340
Vexas Syndrome
Arthritis, Thrombocytopenia, Macrocytic anemia OMIM:301054
Holocarboxylase Synthetase Deficiency
Organic aciduria, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, T... OMIM:253270
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Renal hypoplasia/aplasia, Abnormality of the gallbladder, Hypospadias, Atri... ORPHA:818
Acute Radiation Syndrome
Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymp... ORPHA:449563
Osteogenesis Imperfecta
Abnormal endocardium morphology, Osteopenia, Reduced bone mineral density, Abnormal cortical bone... ORPHA:666
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Absent or minimally ossified vertebral bodies, Hypoplasia of penis, Abnormal pelvis bone ossifica... ORPHA:93271
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Renal cyst OMIM:617100
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, Thrombocytopenia, Partial atrioventricular canal defect OMIM:620423
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Trisomy 10P
Abnormality of the kidney, Rectovaginal fistula, Camptodactyly, Abnormal heart morphology, Multip... ORPHA:171929
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Proteus Syndrome
Cranial hyperostosis, Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Hyperos... ORPHA:744
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ... ORPHA:653
Joubert Syndrome 1
Hepatic fibrosis, Nephropathy, Renal cyst OMIM:213300
Okamoto Syndrome
Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val... ORPHA:2729
Joubert Syndrome 21
Hyperechogenic kidneys, Splenomegaly, Renal cyst OMIM:615636
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia, Hor... OMIM:617088
Hepatoerythropoietic Porphyria
Osteopenia, Red urine, Purple urine, Red-brown urine, Osteoporosis, Splenomegaly, Osteolysis, Ery... ORPHA:95159
Rift Valley Fever
Jaundice, Hematuria, Anemia, Elevated circulating hepatic transaminase concentration, Thrombocyto... ORPHA:319251
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco... ORPHA:100079
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Multicystic kidne... OMIM:619774
Orofaciodigital Syndrome Type 1
Reduced bone mineral density, Elevated circulating hepatic transaminase concentration, Tarsal syn... ORPHA:2750
Pituitary Adenoma 4, Acth-Secreting
Emotional lability, Abnormal fear-induced behavior OMIM:219090
Neuroleptic Malignant Syndrome
Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminase concentratio... ORPHA:94093
Atelis Syndrome 2
Pulmonic stenosis, Thrombocytopenia, Anemia, Supravalvar pulmonary stenosis OMIM:620185
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Joint hypermobility, Septate... OMIM:243800
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Chikungunya
Periostitis, Stiff interphalangeal joints, Lymphadenopathy, Arthritis, Synovitis, Joint stiffness... ORPHA:324625
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Townes-Brocks Syndrome
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abnormal vagina morp... ORPHA:857
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia, Hematuria ORPHA:853
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Flexion contracture of toe, Tracheomalacia, Camptodactyly, Sclerosis of sku... OMIM:300373
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst ORPHA:480536
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Reduced bone mineral density, Multicystic kidney dysplasia, ... ORPHA:1556
Thrombocytopenia 1
Decreased mean platelet volume, Joint hemorrhage, Intermittent thrombocytopenia, Congenital throm... OMIM:313900
Cerebrocostomandibular Syndrome
Ectopic kidney, Calcaneal epiphyseal stippling, Elbow flexion contracture, Renal cyst, Atrial sep... OMIM:117650
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Yellow Fever
Acute kidney injury, Jaundice, Anuria, Acute pancreatitis, Leukocytosis, Elevated circulating ala... ORPHA:99829
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Hypospadias, Amegakaryocytic thrombocytopenia, Hypertrophic car... OMIM:163950
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Aspartylglucosaminuria
Hepatomegaly, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Splenomegaly, Aspart... ORPHA:93
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Recurrent urinary tract infections, T lymphocytop... OMIM:251260
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo... ORPHA:99889
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor... ORPHA:261537
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Knee flexion contractu... OMIM:606170
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ... OMIM:618733
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Renal cyst, Crypt... ORPHA:495875
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Anterior hypopituitarism, Hypoplasia... ORPHA:709
Mowat-Wilson Syndrome
Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor... ORPHA:2152
African Trypanosomiasis
Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Abnormal prolactin le... ORPHA:3385
Pmm2-Cdg
Elevated circulating hepatic transaminase concentration, Pericarditis, Multiple renal cysts, Join... ORPHA:79318
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Abnormal heart mor... ORPHA:261552
Acute Liver Failure
Acute kidney injury, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic p... ORPHA:90062
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Hypoplasti... ORPHA:199
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Renal cyst, Block vertebrae, Capitate-hamate fusion, ... OMIM:272460
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Pollakisuria, Thrombocytopenia, Hemolytic anemia ORPHA:647
Alström Syndrome
Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty... ORPHA:64
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Branchiooculofacial Syndrome
Hypospadias, Elbow flexion contracture, Duplication of internal organs, Renal cyst, Renal agenesi... OMIM:113620
Cerebrocostomandibular Syndrome
Ventricular septal defect, Multicystic kidney dysplasia, Tracheomalacia ORPHA:1393
Plague
Hepatomegaly, Arthritis, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis ORPHA:707
C Syndrome
Renal hypoplasia/aplasia, Limitation of joint mobility, Female pseudohermaphroditism, Cryptorchid... ORPHA:1308
Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Multiple renal cysts ORPHA:220460
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Acute kidney injury, Thrombocytopenia, Oliguria, Hepatic failure ORPHA:466650
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Small scrotum, Camptodactyly of 2nd-5th fingers, Labial... OMIM:601803
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Atrial septal defect, Cr... OMIM:308205
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277
Craniofacial Microsomia 1
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Tetral... OMIM:164210

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.

Phenotype Allele Zygosity Sex Life Stage
Bone marrow - MPATH pathological process term hyperplasia Nucb1em1(IMPC)Mbp HOM Late adult

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 Nucb1.

No publications found that use IMPC mice or data for Nucb1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nucb1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nucb1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nucb1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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