Gene Summary

Name:
dispatched RND transporter family member 3
Synonyms:
G630052C06Rik,  Ptchd2

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
small testis Disp3em1(IMPC)Mbp HOM Early adult 0.00
small heart Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal uterus morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal urinary bladder morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
hydrometra Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Disp3em1(IMPC)Mbp HOM Early adult 0.00
thick skin Disp3em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
enlarged ovary Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Disp3em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Disp3em1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Disp3em1(IMPC)Mbp HOM   Early adult 3.16×10-06
enlarged lymph nodes Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
enlarged urinary bladder Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal ovary morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Disp3em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Disp3 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 Disp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Endocardial fibrosis, Abnormality of the liver OMIM:235550
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Burkitt Lymphoma
Abnormality of the ovary, Decreased proportion of CD4-positive helper T cells, Abnormality of the... ORPHA:543
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Cardi... OMIM:613313
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ure... ORPHA:2869
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly OMIM:615895
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Functioning Gonadotropic Adenoma
Ovarian cyst, Panhypopituitarism, Increased circulating gonadotropin level, Oligospermia, Pituita... ORPHA:91348
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, Splenomegaly, ... ORPHA:100024
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Rabson-Mendenhall Syndrome
Atrial septal defect, Long penis, Ventricular septal defect, Enlarged ovaries, Increased pineal v... ORPHA:769
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepat... ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Ureterovesical stenosis, Micropenis OMIM:268650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Scimitar anomaly, Atrial septal defect, Accessory spleen, Bi... OMIM:618280
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Hypog... OMIM:602390
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Kerion Celsi
Lymphadenopathy ORPHA:499
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Biliary cirrhosis, Abnormal salivary gland morphology, Glycosuria, Thrombocytop... ORPHA:2298
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged polycystic ovaries, ... ORPHA:785
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia, Splenomegaly ORPHA:1802
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Ascites, Enlarg... ORPHA:64739
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Hepatomegaly, Hypercalciuria, Overgrowth of extern... ORPHA:508
Opitz Gbbb Syndrome
Cryptorchidism, Atrial septal defect, Bifid scrotum, Ventricular septal defect, Abnormal heart mo... ORPHA:2745
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Ambiguous genitalia, male, Hyperg... ORPHA:90796
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Polyc... ORPHA:275555
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Abnormal heart morphology, Hepatocellular adenoma, Hepa... ORPHA:370
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Abnormal testis morphology, Liver abscess, Abnormality of the panc... ORPHA:54251
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, As... ORPHA:858
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Polycystic ovaries, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Prot... OMIM:608709
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Hemochromatosis, Type 1
Osteoporosis, Cirrhosis, Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Hepatomega... OMIM:235200
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Urogenital... ORPHA:2138
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Abnormality of the peritoneum, Hepatomegaly, Ascites, Anemia, Testicular neopla... ORPHA:83469
Carney Complex
Pituitary growth hormone cell adenoma, Increased urinary cortisol level, Ovarian cyst, Elevated c... ORPHA:1359
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormality of the lymph nodes ORPHA:33111
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Ovarian Fibroma
Peritonitis, Abnormality of the ovary, Mesenteric cyst, Ascites, Gonadal calcification, Ovarian f... ORPHA:314473
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Hepatic steatosis, Macroorchidism, postpubertal, ... ORPHA:91
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Left ventricular hypert... ORPHA:335
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Cardiomy... ORPHA:93476
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Genital ulcers OMIM:602450
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Senior-Loken Syndrome
Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney dis... ORPHA:3156
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Tetragametic Chimerism
Cryptorchidism, Ambiguous genitalia, Abnormality of the ovary, Ovotestis, Abnormality of the scro... ORPHA:199310
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Ventricular septal defect, Pancytopenia,... OMIM:606003
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Abnor... OMIM:273250
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... ORPHA:755
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly, Cardiomyopathy ORPHA:90970
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Jaundic... OMIM:616278
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Meacham Syndrome
Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, ... ORPHA:3097
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Ataxia-Telangiectasia
Elevated hepatic transaminase, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia of the... ORPHA:100
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes, Nodular goiter ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes, Nodular goiter ORPHA:319487
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund... OMIM:616860
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Myoglobinuri... ORPHA:264580
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hyperparathyroidism OMIM:618107
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Hardikar Syndrome
Elevated hepatic transaminase, Ventricular septal defect, Hydroureter, Hepatomegaly, Jaundice, Ch... OMIM:612726
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Hypertrophic car... ORPHA:2348
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Urogenital sinus anomaly, Ambiguous genit... ORPHA:261529
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Cryptorchidism, Elevated circulating luteinizing hormone level, Oligospermia... ORPHA:95699
46,Xy Sex Reversal 3
Ambiguous genitalia, Exaggerated rugosity of the labia majora, Elevated circulating luteinizing h... OMIM:612965
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Cardiomegaly, Ascites, Nephrotic syndrome OMIM:269920
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Ovarian Fibrothecoma
Peritonitis, Abnormality of the ovary, Abnormality of the endometrium, Ascites, Gonadal calcifica... ORPHA:314478
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:75234
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:85414
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Hyper... ORPHA:79083
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly... OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Urinary excretion of ... OMIM:256550
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pericardial effusion, Decreased proport... OMIM:613011
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Pancreatitis, Renal insufficie... ORPHA:79312
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Increased urinary p... OMIM:618892
Microphthalmia, Syndromic 9
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Single ventricle, Horseshoe kidney, Ven... OMIM:601186
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Familial Pancreatic Carcinoma
Peritoneal abscess, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Elevated hepatic... ORPHA:1333
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Elevated hepatic iron concentration, Osteoporosis, Cirrhos... ORPHA:231222
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundic... OMIM:614866
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Atrial septal defect, Cryptorchidism, Lymphopenia, Neutropenia... OMIM:612541
Roifman Syndrome
Noncompaction cardiomyopathy, Lymphadenopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly,... ORPHA:353298
Galactosemia I
Cirrhosis, Hemolytic anemia, Albuminuria, Hypergonadotropic hypogonadism, Aminoaciduria, Hepatome... OMIM:230400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Ventricular septal defect... ORPHA:1655
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Hepatomegaly, Eosinophilia, Splenomegaly... OMIM:616651
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Hypogonadism, Splenomegaly OMIM:201100
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Horseshoe kidney, Renal hypoplasia, Anteriorly displaced urethral meatus, Aplas... OMIM:266810
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary incontinence, Abnormality of the u... ORPHA:2795
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Precocious puberty in females, Ov... ORPHA:528
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Elevated circulating fo... OMIM:612964
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic... OMIM:615630
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Donohue Syndrome
Ovarian cyst, Long penis, Cholestasis, Hepatic fibrosis, Clitoral hypertrophy, Precocious puberty... OMIM:246200
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Micropenis, Hypogonadotropic hypogonadism, Testicu... OMIM:228300
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Nephrotic syndrome, Splenomegaly, Hepatomegaly OMIM:615846
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Aplas... OMIM:158330
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Po... OMIM:269700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Adult-Onset Still Disease
Pericarditis, Elevated hepatic transaminase, Leukocytosis, Generalized lymphadenopathy, Hepatomeg... ORPHA:829
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Cor pulmonale, Lymph node hypoplasia, Enteroviral hepatitis OMIM:300755
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Osteopetrosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplen... OMIM:611490
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Blind vagina, Urogenital sinus anomaly, Aplasia of the ovary, Azoospermia, B... ORPHA:90797
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Po... OMIM:608594
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma,... ORPHA:465508
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Abnormal heart morphology, Neutropenia, Pancytop... ORPHA:398124
Klatskin Tumor
Extrahepatic cholestasis, Hepatomegaly, Jaundice, Cholangiocarcinoma, Lymphadenopathy ORPHA:99978
Cowden Syndrome
Abnormality of the uterus, Goiter, Abnormal penis morphology, Endometrial carcinoma, Adenoma seba... ORPHA:201
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Lymphangioma, Facial hyperostosis, Calva... OMIM:176920
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Matthew-Wood Syndrome
Cryptorchidism, Abnormality of the uterus, Horseshoe kidney, Renal hypoplasia, Abnormal spleen mo... ORPHA:2470
American Trypanosomiasis
Cardiomyopathy, Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy ORPHA:3386
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia... ORPHA:290
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hepatomegaly, Increased level of galactitol in urine, Hepatosplen... ORPHA:79237
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... ORPHA:911
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Gonadal dysgenesis, Abnormality of the ureter, Ventricular septal defect ORPHA:1770
Distal Monosomy 10P
Cryptorchidism, Polycystic ovaries, Hypoplasia of penis ORPHA:1580
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphology, Gonadobl... ORPHA:168563
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Polycystic ovaries ORPHA:3085
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Amed Syndrome, Digenic
Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marr... OMIM:619151
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Renal insufficiency, Abnormality of the uterus, Abnormal vagina morphology, Gonad... OMIM:194072
Candidiasis, Familial, 2
Hypereosinophilia, Lymphadenopathy OMIM:212050
Legionnaires Disease
Endocarditis, Pericarditis, Hematuria, Lymphopenia, Jaundice, Hepatitis, Splenomegaly, Pancreatit... ORPHA:549
Lig4 Syndrome
Cryptorchidism, Leukocytosis, Pancytopenia, Hepatomegaly, Hypoplasia of penis, Acute leukemia, Ly... ORPHA:99812
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Dec... OMIM:602782
Immunodeficiency 32B
Splenomegaly OMIM:226990
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanin... ORPHA:53035
Proteus Syndrome
Thymus hyperplasia, Long penis, Ovarian neoplasm, Macroorchidism, Neoplasm of the thymus, Renal c... ORPHA:744
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... OMIM:614841
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:435651
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... ORPHA:276
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Pulmonic stenosis, Ascites, Splenomegaly, Chylopericardium ORPHA:2414
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormal heart morphology, Unilateral renal agenesis, Septate vagina, Vaginal atresia, Vesicouret... ORPHA:2237
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Sialidosis Type 2
Hepatomegaly, Ascites, Nephropathy, Splenomegaly ORPHA:87876
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Pseudomyxoma Peritonei
Abnormality of the peritoneum, Ascites, Lymphadenopathy ORPHA:26790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Hypocomplementemic Urticarial Vasculitis
Hematuria, Abnormal heart valve morphology, Pericardial effusion, Hepatomegaly, Ascites, Splenome... ORPHA:36412
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Cryoglobulinemic Vasculitis
Hematuria, Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Renal insuff... ORPHA:91138
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Scrub Typhus
Renal insufficiency, Splenomegaly, Lymphadenopathy, Myocarditis ORPHA:83317
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Unilateral renal agenesis, Bicornuate uterus, Ectopic kidney OMIM:601076
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Gaucher Disease Type 1
Cirrhosis, Hematuria, Pericardial effusion, Biliary tract obstruction, Pancytopenia, Thrombocytop... ORPHA:77259
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Biliary tract abnormality, Hepatic fibrosis, Vaginal atresia, Left vent... OMIM:209900
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Polycystic ovaries, Cardiomyopath... ORPHA:79086
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Biliary tract a... OMIM:175200
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Thyroid lym... OMIM:235255
Mccune-Albright Syndrome
Ovarian cyst, Renal phosphate wasting, Hyperplasia of the Leydig cells, Elevated circulating grow... ORPHA:562
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Nephrotic syndrome, ... ORPHA:39041
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Aplasia of the vagina, Distal renal tubular acidosis, Septate vagina, Proximal renal t... OMIM:146255
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Reduced... OMIM:618723
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Cirrhosis, Polycystic ovaries OMIM:604367
Nephroblastoma
Hematuria, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Elevated ... OMIM:612310
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia... ORPHA:47612
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Decreased skull ossification OMIM:601163
Mevalonic Aciduria
Splenomegaly ORPHA:29
Castleman Disease
Ureteral obstruction, Abdominal mass, Hematuria, Restrictive cardiomyopathy, Generalized lymphade... ORPHA:160
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries ORPHA:435660
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Medullary Thyroid Carcinoma
Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Nodular goit... ORPHA:1332
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Unilater... OMIM:216360
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Q Fever
Endocarditis, Pericarditis, Hematuria, Elevated hepatic transaminase, Abnormal heart valve morpho... ORPHA:781
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Blind vagina, Ambiguous genitalia, male, Bifid scrotum, Elevated... ORPHA:90793
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... ORPHA:3130
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Lumbar Syndrome
Cryptorchidism, Ambiguous genitalia, Bifid uterus, Bifid scrotum, Hypoplastic labia majora, Vesic... ORPHA:83628
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Atrial septal defect, Elevated hepatic transaminase, Ventricular septal defect, Proxim... OMIM:614576
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Unilateral renal agenesis, Hypoplasia of the vagina, Ectopic kidney, Aplasia of... ORPHA:3109
8P11.2 Deletion Syndrome
Cryptorchidism, Atrial septal defect, Hemolytic anemia, Azoospermia, Splenomegaly, Hypogonadotrop... ORPHA:251066
Boutonneuse Fever
Elevated hepatic transaminase, Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency... ORPHA:83313
Myelofibrosis
Myeloproliferative disorder, Myelofibrosis, Splenomegaly OMIM:254450
Thymoma
Hemolytic anemia, Pericarditis, Abnormal lymphocyte morphology, Abnormality of the peritoneum, Ne... ORPHA:99867
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Hemophagocytosis, Elevated hepatic transaminase, Neutropenia, Thromboc... ORPHA:540
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly, Hepatic failure ORPHA:75233
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Elevated hepatic transaminase, Decreased proportion of memory B cells, Chronic... ORPHA:79124
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular... OMIM:276700
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Splenomegaly ORPHA:2969
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Hepatomegaly, Vaginal atresia, Splenomegaly, Atrioventricular canal defect, Hyd... OMIM:617088
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, ... ORPHA:97289
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Pagod Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:991
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac septum morphology, Apla... ORPHA:3320
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Mixed Connective Tissue Disease
Hemolytic anemia, Pericarditis, Nephropathy, Hepatomegaly, Splenomegaly, Leukopenia, Myocarditis,... ORPHA:809
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Urogenital... ORPHA:325124
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Elevated hepatic transaminase, Polycystic ovaries OMIM:268020
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Macrocytic anemia OMIM:619046
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopathy, Thrombocytopenia, Anem... ORPHA:3392
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibr... ORPHA:30391
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Female pseudohermaphroditism OMIM:613546
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcin... ORPHA:2137
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Pericardial effusion, Splenomegaly, Hepatomegaly ORPHA:92
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Hematuria, Urethral obstruction, Abnormality of the scrotum, Lymp... ORPHA:2035
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function... OMIM:251290
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Hemolytic anemia, Splenomegaly ORPHA:98375
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Elevated hepatic transaminase, Acute hepatic failure, Lymphadenopathy, Hepatitis, ... ORPHA:139402
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis,... ORPHA:567983
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Asymmetric septal hypertrophy, Heparan sulfate excretion in urine, Splenomegaly OMIM:252930
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Micropenis, Ambiguous genitalia... ORPHA:1772
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Lymphangioleiomyomatosis
Abnormal morphology of female internal genitalia, Multiple renal cysts, Hematuria, Abnormal urina... ORPHA:538
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Hypertrophic car... ORPHA:280365
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Myo... ORPHA:2442
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Aortic valve stenosis, Hepatomegaly, Splenomegaly, Hypersplenism,... OMIM:230800
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Abnormality of the liver ORPHA:33276
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Male hypogonadism, Chronic active hepatitis, Cholelithiasis, Female hypogonadism, Asplenia, Nephr... OMIM:240300
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Ascites, Nephrotic syndrome, Proteinuria ORPHA:834
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Absence of renal cort... OMIM:259720
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Long penis, Premature pubarche, Ambiguous genitalia, female, Renal salt wast... ORPHA:90795
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia... ORPHA:86843
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Decreased numbers of nephrons, ... OMIM:137920
Gray Platelet Syndrome
Myelofibrosis, Abnormal number of alpha granules, Thrombocytopenia, Menorrhagia, Splenomegaly OMIM:139090
Adams-Oliver Syndrome 5