Gene Summary

Name:
Rhesus blood group-associated A glycoprotein
Synonyms:
Rh50,  Rh50A,  CD241

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal thymus morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating cholesterol level Rhagem1(IMPC)Ccpcz HOM   Early adult 6.75×10-05
abnormal lymph node morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
decreased mean corpuscular hemoglobin Rhagem1(IMPC)Ccpcz HOM Early adult 5.81×10-08
abnormal heart morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
small testis Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating HDL cholesterol level Rhagem1(IMPC)Ccpcz HOM   Early adult 2.61×10-06
increased circulating total protein level Rhagem1(IMPC)Ccpcz HOM Early adult 1.18×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

Human diseases caused by Rhag mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Hypercholesterolemia, Elevated circulating rT3/T3 ... OMIM:619855
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Increased serum bile acid concentration, Increased total bilirubin, Splenomegaly, C... OMIM:619868
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Multiple Myeloma
Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea... ORPHA:29073
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly OMIM:232700
Reticuloendotheliosis, X-Linked
Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Primary ameno... OMIM:612526
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Hyperuricemia, ... ORPHA:90041
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Azoospermia, Increased LDL cholest... OMIM:615703
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hemophagocyt... OMIM:267700
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concen... OMIM:616828
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Adrenal calcification, Hypercholesterolemia ORPHA:75234
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia OMIM:306000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, ... OMIM:603552
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypercholesterolemia OMIM:608320
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hypothyroidism,... OMIM:620211
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... OMIM:613673
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Ethanolaminosis
Cardiomegaly OMIM:227150
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hypo... OMIM:603553
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Hepatomegaly, Cholelithiasis, Hypertrophic cardiomyopath... ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Hepatosplenome... OMIM:613101
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Elevated circulating carcinoembryonic antigen concentration, ... ORPHA:100083
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... OMIM:615517
Sitosterolemia 1
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic he... OMIM:210250
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Hepatomegaly, Increased circulating chylomicron concentration, Decreased ci... OMIM:207750
Galactokinase Deficiency
Premature ovarian insufficiency, Hepatomegaly, Hyperinsulinemia, Increased level of galactitol in... ORPHA:79237
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Hypot... OMIM:226300
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly ORPHA:100025
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ... ORPHA:543
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein concentration, Ab... ORPHA:54251
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of CD3-positive T cells, ... ORPHA:90362
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancreatic lymphangiectasis, Hypo... ORPHA:1655
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Hemochromatosis, Type 1
Hepatomegaly, Azoospermia, Cardiomyopathy, Impotence, Diabetes mellitus, Increased circulating ir... OMIM:235200
Kerion Celsi
Lymphadenopathy ORPHA:499
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cardiomyopathy, Leukocytosis, Elevated ci... OMIM:615895
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Ventricular septal defe... OMIM:235255
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Johanson-Blizzard Syndrome
Abnormality of the female genitalia, Anemia, Hypospadias, Dextrocardia, Hypoplasia of penis, Abno... ORPHA:2315
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Hepatomegaly,... OMIM:278000
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Leptospirosis
Hepatomegaly, Lymphadenopathy, Pericarditis, Thrombocytopenia, Hyperproteinemia ORPHA:509
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Clitoral hypertrophy, Hepatomegaly, Hyperinsulinemia, Precocious puberty in... ORPHA:528
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Kennedy Disease
Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea... ORPHA:481
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Decreased testicu... OMIM:616222
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating... OMIM:620282
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Toxoplasmosis
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Cardiomegaly ORPHA:858
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hepato... ORPHA:247585
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Kimura Disease
Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated... OMIM:615559
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Cholelithiasis, Reticulocytosis, Pericardial effus... ORPHA:846
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Increased circulating ferritin concentration, ... OMIM:618886
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:97290
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatomegaly, Splenomegaly ORPHA:79292
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... OMIM:618838
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Immune Dysregulation, Autoimmunity, And Autoinflammation
Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal... OMIM:620514
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Delayed puberty, Hepatomegaly, Anemia, Abnormal erythrocyte enzyme concentr... ORPHA:264580
Heme Oxygenase 1 Deficiency
Hepatomegaly, Thrombocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopa... OMIM:614034
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration OMIM:611762
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Sp... OMIM:602450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Hypospadias, Ovotestis, ... OMIM:610644
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Increased circulating ferritin concentration OMIM:205950
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hyperlipidemia, Hepatosplenome... OMIM:238600
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Decreased female libido, Oligozoospermia, Delaye... ORPHA:52901
Griscelli Syndrome Type 2
Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenomegaly, Neut... ORPHA:79477
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia, Hepatomegaly ORPHA:99828
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly OMIM:269920
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cryptorchidism OMIM:608093
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Granulomatous Slack Skin
Abnormal lymph node morphology, Hypercalcemia ORPHA:33111
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Hypocalcemia, Patent foramen ovale, Hypoproteinemia, Elevated... ORPHA:26793
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancyto... ORPHA:167
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatomegaly, Anemia, Elevated circulating creatine kinase concentration, O... ORPHA:79240
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... OMIM:308240
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Cinca Syndrome
Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep... OMIM:607115
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
Cyanosis, Transient Neonatal
Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Macrophage Activation Syndrome
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-reactive pro... ORPHA:158061
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Laron Syndrome
Delayed puberty, Abnormality of the endocrine system, Hypercholesterolemia, Hypoplasia of penis ORPHA:633
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Cryptorchidism, Hypercholesterolemia ORPHA:96184
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, Anemia of inad... ORPHA:231222
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Lymphadenopathy, Decreased circula... ORPHA:85450
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Ovarian neoplasm,... ORPHA:83469
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, ... OMIM:619802
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Hepatomegaly, Cardiomegaly, Erectile dysfunction, Decreased libi... ORPHA:465508
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi... ORPHA:85414
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hypothyroidism, Hepatospl... OMIM:619750
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo... ORPHA:97289
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia OMIM:616730
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal heart morphology, Hypercholesterolemia, Abnormality of the thyroid... OMIM:182290
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Abnormal circulating thyroglobulin concentration, Pi... ORPHA:90674
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpuscular volu... ORPHA:232
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Increased serum bile acid concentration, Bile duct proliferation, Elevated circulat... OMIM:619662
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... ORPHA:457077
Sickle Cell Disease
Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Priap... OMIM:603903
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia OMIM:619170
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Attrv122I Amyloidosis
Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo... ORPHA:85451
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypothyroidism, Abnormality of the thyroid gl... ORPHA:77296
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ... OMIM:609981
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Generalized lymphade... ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ... OMIM:613179
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... OMIM:600649
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomega... ORPHA:98848
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Dilated cardiomyopathy, Hypercholesterolemia, Type II diabetes mellitus ORPHA:401923
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... OMIM:250790
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio OMIM:618495
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Hypothyroidism, Left ventricular hypertrophy, Hypopituitarism, Hypercholesterolemia ORPHA:90065
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Lysinuric Protein Intolerance
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hyperammonemia, Abnor... ORPHA:470
Castleman Disease
Anemia, Mediastinal lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymph... ORPHA:160
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Rhabdoid Tumor
Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8... OMIM:150550
Dominant Beta-Thalassemia
Delayed puberty, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hypoparathyroidi... ORPHA:231226
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Beta-Thalassemia Major
Anisopoikilocytosis, Delayed puberty, Abnormality of iron homeostasis, Hypochromic microcytic ane... ORPHA:231214
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Bardet-Biedl Syndrome 20
Hypercholesterolemia, Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Micropenis OMIM:619471
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Leu... OMIM:619991
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... OMIM:618849
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Griscelli Syndrome
Abnormal circulating lipid concentration, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellular... ORPHA:381
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Coronary artery stenosis, Type II ... OMIM:615812
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Roifman Syndrome
Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic... ORPHA:353298
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k... OMIM:300280
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Lymphadeno... OMIM:619644
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Decreased circulating carnitine concentration, Cardiomyopathy, Elevated circulating... OMIM:212140
Tangier Disease
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or... ORPHA:31150
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Cholesterol ... ORPHA:209902
Tularemia
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr... ORPHA:3392
Prader-Willi Syndrome
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Decreased respons... OMIM:176270
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Hepatomegaly OMIM:619064
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... ORPHA:1451
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Splenomegaly, Cardi... OMIM:256550
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegal... OMIM:615122
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb... OMIM:618048
Hjv Or Hamp-Related Hemochromatosis
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... ORPHA:79230
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy OMIM:618165
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, H... ORPHA:99812
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial effusion, Cardiomegaly OMIM:614702
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Increas... ORPHA:412
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect, Hypercholesterolemia OMIM:618348
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, ... ORPHA:540
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly OMIM:619051
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Smith-Magenis Syndrome
Hypertriglyceridemia, Delayed puberty, Precocious puberty, Hypothyroidism, Hypercholesterolemia ORPHA:819
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu... OMIM:616651
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Thyroid Lymphoma
Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo... ORPHA:911
Immunodeficiency 47
Normocytic anemia, Hepatomegaly, Decreased circulating copper concentration, Accessory spleen, Le... OMIM:300972
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,... ORPHA:39041
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased circulating iron concentration OMIM:206100
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Sideroblastic anemia, T... OMIM:222300
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bon... ORPHA:275761
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy OMIM:252920
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia... OMIM:602782
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells... ORPHA:276
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hyperinsulinemia, La... OMIM:151660
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp... OMIM:617591
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at... OMIM:620642
H Syndrome
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased t... ORPHA:168569
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, He... ORPHA:98850
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopa... ORPHA:100093
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric... ORPHA:79126
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hypothyroidism, Type I diabetes... OMIM:304790
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Hepatomegaly, Splenomegaly, C... ORPHA:186
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, U... OMIM:618278
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatomegaly, Anemia, Delayed puberty, Hyperu... ORPHA:79259
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:610377
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabetes, Ventricular septal defec... ORPHA:860
Cirrhotic Cardiomyopathy
Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg... ORPHA:57777
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Micr... OMIM:257200
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D... ORPHA:42
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero... ORPHA:2905
Congenital Disorder Of Glycosylation, Type Iiaa
Hyperammonemia, Ventricular septal defect, Hypercholesterolemia, Hepatomegaly OMIM:620454
Medullary Thyroid Carcinoma
Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin c... ORPHA:1332
Mandibuloacral Dysplasia
Hypertriglyceridemia, Hyperinsulinemia, Increased circulating free fatty acid level, Hypercholest... ORPHA:2457
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphope... OMIM:618935
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Timothy Syndrome
Hypocalcemia, Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Cardiomegaly, Ventricula... OMIM:601005
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Legionnaires Disease
Myocarditis, Lymphadenopathy, Hyponatremia, Bone marrow hypocellularity, Pericarditis, Splenomega... ORPHA:549
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
Mogs-Cdg
External genital hypoplasia, Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hypothyr... ORPHA:79330
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Agammaglobulinemia, X-Linked
Prostatitis, Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Epididymitis, C... OMIM:300755
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:619183
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Decreased circulating carnitine concentration, Elevated circulating creatine kinase... OMIM:201475
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyper... OMIM:255120
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, T lymphocytopenia, ... OMIM:606367
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central ... ORPHA:514
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Cryptorchidism, Microcytic anemia, Hypospadias ORPHA:98791
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein conce... ORPHA:50918
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Proteus-Like Syndrome
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Long-Olsen-Distelmaier Syndrome
Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ... OMIM:620609
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypercholesterolemia, Cholelithiasis ORPHA:69663
Lead Poisoning
Abnormal T cell morphology, Delayed puberty, Decreased HDL cholesterol concentration, Anemia, Dec... ORPHA:330015
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Middle Ear Neuroendocrine Tumor
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm ORPHA:100084
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr... OMIM:617099
Boutonneuse Fever
Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Elevated circulat... ORPHA:97287
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s... ORPHA:2035
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Hypothyroidism,... OMIM:617713
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Increased size of nasopharyngeal adenoids, Ventricular septal defect, Persi... OMIM:619769
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega... OMIM:612783
Refsum Disease, Classic
Elevated circulating phytanic acid concentration, Cardiomyopathy, Cardiomegaly OMIM:266500
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Abetalipoproteinemia
Steatorrhea, Decreased HDL cholesterol concentration, Anemia, Hepatomegaly, Hypotriglyceridemia, ... ORPHA:14
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma ORPHA:615
Scrub Typhus
Myocarditis, Lymphadenopathy, Splenomegaly ORPHA:83317
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Ventricular hypertrophy, Mitral valve calcification, Aortic valve stenosis,... ORPHA:363618
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Megalocornea-Intellectual Disability Syndrome
Hypothyroidism, Hypercholesterolemia ORPHA:2479
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Thrombocytopenia, Decreased eosinophil count... ORPHA:2686
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... ORPHA:766
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Acute Promyelocytic Leukemia
Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Metrorrhagia, ... ORPHA:520
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatomegaly, Anemia, Cardiomegaly, Elevated circulating C-reactive protein concentration, Congen... OMIM:620376
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk... OMIM:615934
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Lymphadenopathy, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly ORPHA:36412
Neuhauser Syndrome
Primary hypothyroidism, Hypercholesterolemia OMIM:249310
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro... ORPHA:83471
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr... OMIM:306955
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi... ORPHA:32960
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan... OMIM:615688
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Hypertrophic cardiomyopathy ORPHA:391428
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia... ORPHA:809
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate antidiureti... ORPHA:79124
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Papa Syndrome
Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Cardiomyopathy,... ORPHA:228308
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Chediak-Higashi Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Leukopenia, Splenomegaly, Impaired neutr... OMIM:214500
Neuroblastoma
Anemia, Lymphadenopathy, Thrombocytopenia, Elevated circulating catecholamine level, Increased ci... ORPHA:635
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... OMIM:617052
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ... OMIM:617718
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect, Micropenis OMIM:616897
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Prim... OMIM:619418
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100080
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp... OMIM:115197
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Steinert Myotonic Dystrophy
Decreased fertility, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abn... ORPHA:273
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating long chain fatty acid concentration, Elevated... OMIM:608836
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, Hypercholesterolemia, Insulin-resista... OMIM:248370
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal ce... OMIM:308230
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Impotence OMIM:268800
Q Fever
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal heart valve morphology, Pericarditis... ORPHA:781
Lesch-Nyhan Syndrome
Megaloblastic anemia, Testicular atrophy, Hyperuricemia OMIM:300322
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Carney Triad
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, A... ORPHA:139411
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Eosinophilia ORPHA:139402
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Anemia,... ORPHA:534
Brucellosis
Myocarditis, Abnormal aortic valve morphology, Anemia, Lymphadenopathy, Elevated circulating C-re... ORPHA:1304
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Lymphopenia, Pericardial effusion, Thrombocytopenia, Leukopenia, Microangiopathi... ORPHA:93552
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Shwachman-Diamond Syndrome 1
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Per... OMIM:260400
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:300257
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Hypospad... OMIM:301040
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Splenomegaly, Elevated circulating creatinine concentration, Dia... OMIM:619534
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Autoimmune hemolytic anemia, Atrial septal defect, Atrioventricular canal d... OMIM:619573
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased H... OMIM:256040
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement OMIM:614473
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Hypoplasia of penis, Male pseudohermaphroditism, Abnormality of the male genitalia, Abnor... ORPHA:847
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Atypical pulmonary carcinoi... ORPHA:100082
Nephroblastoma
Lymphadenopathy ORPHA:654
Pancreatoblastoma
Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Atypical pulmonary c... ORPHA:100075
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormality of the thyroid gland ORPHA:52417
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c... ORPHA:3261
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Hepatomegaly, Elevated circulating creatine kinase concentration, Decreased seru... OMIM:614921
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis, Lymphadenopathy ORPHA:39812
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233710
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Truncus Arteriosus
Adrenocortical abnormality, Transposition of the great arteries, Abnormal heart valve morphology,... ORPHA:3384
Immunodeficiency 31C
Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi... OMIM:614162
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233690
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Leukocytosis, Right atri... OMIM:620233
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Pure red cell aplasia, Imbalan... ORPHA:99867
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia ORPHA:33226
Marburg Hemorrhagic Fever
Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infection, Hyperamylasemia, Abnormal ly... ORPHA:99826
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly, Pancreatic adenocarcinoma, Ovarian carcinoma, Diabetes mellitus ORPHA:1333
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Lowe Oculocerebrorenal Syndrome
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated amniotic fluid alpha... OMIM:309000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le... ORPHA:308552
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly OMIM:260920
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Juvenile Polyposis Syndrome