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Gene: Disp3 MGI:2444403

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small testis Disp3em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal urinary bladder morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
increased bone mineral content Disp3em1(IMPC)Mbp HOM   Early adult 4.32×10-05
small heart 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 ovary Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal testis morphology Disp3em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Disp3em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal uterus morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Disp3em1(IMPC)Mbp HOM Late adult 0.00
hydrometra Disp3em1(IMPC)Mbp HOM Late adult 0.00
preweaning lethality, incomplete penetrance 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

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
Testicular Torsion
Testicular torsion, Torsion of appendix of testis OMIM:187400
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... OMIM:614840
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... ORPHA:543
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged ... ORPHA:90301
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Hepatic Adenomas, Familial
Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Anemia, Enlarged polycystic ovaries, Abnormality of the gallbladder, B... ORPHA:2869
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 104
Lymphadenopathy, Splenomegaly, T lymphocytopenia, Hepatomegaly OMIM:608971
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi... OMIM:607685
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid OMIM:206400
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Elevated hepatic transaminase, Hepatomegaly, S... OMIM:613313
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Hepatic steatosis, Polyc... OMIM:608709
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Rabson-Mendenhall Syndrome
Precocious puberty, Ventricular septal defect, Long penis, Atrial septal defect, Increased pineal... ORPHA:769
Opitz Gbbb Syndrome
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Bicornuate uterus, Bifid ... ORPHA:2745
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Tyrosinemia Type 1
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... ORPHA:882
Cystic Echinococcosis
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... ORPHA:400
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Kerion Celsi
Lymphadenopathy ORPHA:499
Insulin-Resistance Syndrome Type B
Leukopenia, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, Nephritis, Polycystic ova... ORPHA:2298
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... OMIM:620010
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Sple... OMIM:602390
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly ORPHA:79084
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Nephrotic sy... OMIM:615559
Leprechaunism
Enlarged kidney, Labial hypertrophy, Hypercalciuria, Long penis, Hypertrophic cardiomyopathy, Hep... ORPHA:508
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Hypogonadism, Hepatomegaly OMIM:608540
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... ORPHA:858
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Nephronophthisis 19
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... OMIM:616217
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... OMIM:269600
Preeclampsia
Acute kidney injury, Elevated hepatic transaminase, Polycystic ovaries, Abnormality of the hepati... ORPHA:275555
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... OMIM:602450
Galactose Epimerase Deficiency
Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Renal tubular acidosis, Hepatocellular carcinoma, Abnormal erythrocy... ORPHA:370
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:100025
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Abnormal testis morphology, ... ORPHA:54251
Galactosemia Iii
Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly OMIM:230350
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Female Infertility Due To Oocyte Meiotic Arrest
Polycystic ovaries, Abnormal spermatogenesis ORPHA:488191
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria OMIM:602079
Gonadoblastoma
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... ORPHA:206484
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... ORPHA:335
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... ORPHA:90796
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... OMIM:617514
Ovarian Fibroma
Gonadal calcification, Abnormality of the ovary, Ascites, Peritonitis, Mesenteric cyst, Ovarian f... ORPHA:314473
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Estrogen Resistance Syndrome
Breast hypoplasia, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Hypopla... ORPHA:785
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... ORPHA:2138
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... OMIM:615285
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... ORPHA:83469
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly OMIM:105200
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Ascites, Splenomegaly ORPHA:1046
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... OMIM:614470
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Cardiomyopathy ORPHA:90970
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Polycystic ovaries, Hepatic steatosis ORPHA:280356
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... OMIM:618534
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Hepatic steatosis, Female pseudohermaph... ORPHA:91
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... OMIM:619868
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly OMIM:613101
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulating follicle stimulating hormon... OMIM:273250
Meacham Syndrome
Abnormal fallopian tube morphology, Ambiguous genitalia, Crossed fused renal ectopia, Conotruncal... ORPHA:3097
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... ORPHA:1414
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Beta-Thalassemia
Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis, Hypogonadotropic hy... ORPHA:848
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... OMIM:617394
Cardiac-Urogenital Syndrome
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent urachus, Unilateral cry... OMIM:618280
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Azoospermia, Elevated hepatic transaminase, Testicular atrop... OMIM:235200
Heme Oxygenase 1 Deficiency
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... OMIM:614034
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Ataxia-Telangiectasia
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Elevated hepatic transaminase, Lymp... ORPHA:100
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Increased urinary porphobilinogen, Splenomegaly, Elevated urinary delta-a... OMIM:121300
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Chol... OMIM:616828
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Transaldolase Deficiency
Patent foramen ovale, Hepatic fibrosis, Cirrhosis, Anemia, Ventricular septal defect, Pancytopeni... OMIM:606003
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst ORPHA:397685
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... OMIM:214900
Leydig Cell Hypoplasia
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... ORPHA:755
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Ovarian Fibrothecoma
Gonadal calcification, Abnormality of the ovary, Ascites, Peritonitis, Abnormal endometrium morph... ORPHA:314478
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepatomegaly, P... ORPHA:2348
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Abnormal erythrocyte enzyme level, E... ORPHA:264580
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Cholestasis, Hepatomegaly ORPHA:172
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology ORPHA:2584
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
46,Xy Sex Reversal 3
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... OMIM:612965
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Tubulointerstitial nephritis, Anemia, Primary testicular failure,... ORPHA:85450
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... OMIM:616860
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Hepatomegaly, Hyperechogen... OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
46,Xy Sex Reversal 10
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Bifid scrotum, Decreased testicular size, Hypo... OMIM:616425
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... OMIM:615234
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... OMIM:609981
Pparg-Related Familial Partial Lipodystrophy
Splenomegaly, Cirrhosis, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepa... ORPHA:79083
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Vesicoureteral reflux, Ambiguous genitalia, Abnormality of female external genitalia, Increased s... ORPHA:95699
Adams-Oliver Syndrome 6
Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Renal hypoplasia, Portal hyperte... OMIM:616589
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... OMIM:615122
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly OMIM:269920
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... ORPHA:507
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Microphthalmia, Syndromic 9
Hydronephrosis, Truncus arteriosus, Ventricular septal defect, Bicornuate uterus, Hypoplastic lef... OMIM:601186
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... ORPHA:1333
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Splenomegaly ORPHA:75234
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, A... ORPHA:2795
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Elevated hepati... OMIM:619644
Roifman Syndrome
Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Eosinophilia, Hepatomeg... OMIM:616651
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy, Eosinophilia, Hypogonadotropic... ORPHA:353298
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... ORPHA:158057
Neuraminidase Deficiency
Ascites, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptid... OMIM:256550
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly ORPHA:79477
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, ... OMIM:308240
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... OMIM:266810
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... OMIM:601859
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Renal insufficiency, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomeg... ORPHA:79312
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly ORPHA:391
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Congenital Generalized Lipodystrophy
Precocious puberty in females, Cirrhosis, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycys... ORPHA:528
Harderoporphyria
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... OMIM:618892
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Sickle Cell Disease
Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hematuria, Increase... OMIM:603903
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Splenomegaly, Hepatic failure, Ventricular septal defect, Pul... ORPHA:1655
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Proximal tubulopathy, Abnormality of the liver, Decreased liver functi... ORPHA:231222
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:257200
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Increased circulatin... ORPHA:168563
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Cirrhosis, Anemia, Renal tubular acidosis, Hepatocellular carcinoma, Elevated h... ORPHA:79240
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ... OMIM:610333
Donohue Syndrome
Hepatic fibrosis, Precocious puberty, Long penis, Cholestasis, Pancreatic islet-cell hyperplasia,... OMIM:246200
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... ORPHA:90797
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... OMIM:228300
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Hepatomegaly, Myeloproli... ORPHA:3226
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... OMIM:619463
Lysosomal Acid Lipase Deficiency
Leukopenia, Hepatic fibrosis, Cirrhosis, Anemia, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Ventricular septal defect, Cholestasis, Hepatomegaly, Nephrono... OMIM:615630
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614841
Babesiosis
Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Jaundice, Hepatomegaly, Throm... ORPHA:108
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... OMIM:619151
X-Linked Sideroblastic Anemia
Anemia, Elevated hepatic transaminase, Splenomegaly ORPHA:75563
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... OMIM:613812
Primary Myelofibrosis
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... ORPHA:824
Adult-Onset Still Disease
Hepatitis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphadenopathy, Pericarditis... ORPHA:829
Klatskin Tumor
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly ORPHA:99978
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... ORPHA:911
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy ORPHA:3386
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... ORPHA:381
Legionnaires Disease
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Hematuria, Lymphopenia, Pericarditis, Lymphadeno... ORPHA:549
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Hematuria, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Decreased testicular size, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism ORPHA:3085
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly OMIM:261750
Neonatal Lupus Erythematosus
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... ORPHA:398124
Matthew-Wood Syndrome
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormalit... ORPHA:2470
Distal Monosomy 10P
Polycystic ovaries, Hypoplasia of penis, Cryptorchidism ORPHA:1580
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Diethylstilbestrol Syndrome
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... ORPHA:1916
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Polycystic ovaries, Abnormality of the ureter, Gonadal dysgenesis, Ventricular septal defect ORPHA:1770
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Decreased skull ossification OMIM:601163
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Labial hypertrophy, Elevated hepatic transaminase, Hepatic steatosis, Polycystic ovari... OMIM:608594
Castleman Disease
Anemia, Restrictive cardiomyopathy, Renal insufficiency, Jaundice, Ureteral obstruction, Generali... ORPHA:160
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Splenomegaly, Retroperitoneal fibrosis, Ventricular septal defect, Decreas... OMIM:602782
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Di... OMIM:615895
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Nephrotic syndrome, Lymphopenia, Hepatosplenomegaly, Lymphadenop... OMIM:618935
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Labial hypertrophy, Elevated hepatic transaminase, Ventricular septal hypertrophy, Hep... OMIM:269700
Hb Bart'S Hydrops Fetalis
Anemia, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretio... OMIM:252920
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Lymphadenopathy, Hepatomegaly, Cryptorchidism, Leukocytosis, A... ORPHA:99812
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD3-positive T cells, Jaundice, Decrea... ORPHA:276
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Renal insufficiency, Abnormality of the uterus, Hypospadias, Nephropathy, Cryptor... OMIM:194072
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Mullerian Aplasia And Hyperandrogenism
Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... OMIM:158330
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly OMIM:300635
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly ORPHA:79085
Cowden Syndrome
Enlarged polycystic ovaries, Adenoma sebaceum, Endometrial carcinoma, Abnormality of the uterus, ... ORPHA:201
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... ORPHA:158061
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus OMIM:601076
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis ORPHA:2414
Hypocomplementemic Urticarial Vasculitis
Pericardial effusion, Hematuria, Abnormal heart valve morphology, Lymphadenopathy, Hepatomegaly, ... ORPHA:36412
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:612526
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... ORPHA:99429
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Vaginal atresia, A... ORPHA:2237
Scrub Typhus
Lymphadenopathy, Myocarditis, Renal insufficiency, Splenomegaly ORPHA:83317
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Omenn Syndrome
Anemia, Nephrotic syndrome, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leukocytosis, Splenomega... ORPHA:39041
Satoyoshi Syndrome
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... ORPHA:3130
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:300510
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Incre... ORPHA:98850
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly ORPHA:59303
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Acute pancreatitis, Hepatomegaly, Proteinuria, ... ORPHA:79086
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly ORPHA:435651
Ovarian Dysgenesis 6
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:618078
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Jaundice, Atrial septal defect, Hepatomegaly, Thrombocytopenia... ORPHA:290
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia OMIM:608184
Cholestasis, Progressive Familial Intrahepatic, 2
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... OMIM:601847
Peutz-Jeghers Syndrome
Ovarian cyst, Neoplasm of the pancreas, Biliary tract abnormality, Abnormality of the ureter, Bil... OMIM:175200
Proteus Syndrome
Macroorchidism, Neoplasm of the thymus, Enlarged polycystic ovaries, Long penis, Renal cyst, Test... ORPHA:744
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Felty Syndrome
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... ORPHA:47612
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Mccune-Albright Syndrome
Renal phosphate wasting, Macroorchidism, Increased circulating prolactin concentration, Precociou... ORPHA:562
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Nephroblastoma
Lymphadenopathy, Hematuria, Neoplasm of the liver ORPHA:654
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu... OMIM:146255
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Renal insufficiency, Pe... OMIM:263200
Sézary Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology ORPHA:3162
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... OMIM:194380
Caroli Disease
Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Periportal fibrosis, Elevated circulating alanine... ORPHA:53035
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevated circulating follicle... OMIM:612964
Gaucher Disease Type 1
Leukopenia, Cirrhosis, Anemia, Pericardial effusion, Hypersplenism, Hematuria, Pancytopenia, Bili... ORPHA:77259
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absence of lymph node germinal... ORPHA:277
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... OMIM:607765
Cryoglobulinemic Vasculitis
Abnormality of the liver, Hematuria, Viral hepatitis, Mediastinal lymphadenopathy, Hepatomegaly, ... ORPHA:91138
Q Fever
Endocarditis, Anemia, Abnormality of the liver, Hepatitis, Pericardial effusion, Hematuria, Abnor... ORPHA:781
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla... ORPHA:754
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615085
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Cholecystitis, Chronic hemolytic anemia, Decrea... OMIM:266200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Perrault Syndrome 3
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Ele... OMIM:614129
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:306000
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Polycystic ovaries, Cirrhosis OMIM:604367
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma OMIM:617100
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... OMIM:616689
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... ORPHA:79456
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... ORPHA:90793
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Proteus-Like Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly ORPHA:2969
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Abnormal labia majora morphology, Hepatomegaly ORPHA:435660
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Jaundice, Elevated hepatic transaminase, Abnormal renal physiology, Lymphadenopathy, Hemo... ORPHA:540
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hepatic failure, Testicular atro... ORPHA:465508
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly,... OMIM:235555
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Calcium... ORPHA:97289
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism, Abnormal liver pa... ORPHA:1332
Boutonneuse Fever
Leukopenia, Renal insufficiency, Elevated hepatic transaminase, Lymphadenopathy, Cervical lymphad... ORPHA:83313
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Urinary retention, Ascites, Jaundi... ORPHA:79124
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... OMIM:616100
Lumbar Syndrome
Vesicoureteral reflux, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus... ORPHA:83628
Lymphatic Filariasis
Vaginal hydrocele, Lymphadenitis, Abnormality of the scrotum, Lymphangiectasis, Hypereosinophilia... ORPHA:2035
Tularemia
Anemia, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphadenopathy,... ORPHA:3392
Coach Syndrome 1
Hepatic fibrosis, Cirrhosis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease... OMIM:216360
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Hydrocele testis, Ovarian serous cystadenoma ORPHA:276280
Infantile Liver Failure Syndrome 3
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Cholestasi... OMIM:618641
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Lymphopenia, Autoimm... OMIM:613179
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, Prostatitis, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral ... OMIM:300755
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia,... OMIM:235255
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus ORPHA:247768
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Aplasia of the uterus, Horse... ORPHA:3109
Pagod Syndrome
Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal testis morphology, Agonadism, Abnorma... ORPHA:991
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens... ORPHA:131
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Polycystic ovaries, Elevated hepatic transaminase, Hypergonadotropic hypogonadism OMIM:268020
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Aplasia of the uterus, Horseshoe kidney, Thrombocytopenia, Te... ORPHA:3320
Wilson Disease
Cirrhosis, Anemia, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h... ORPHA:905
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:619665
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Pericarditis, Lymphadenopathy, Nephropathy, Mediastinal lymphadenop... ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... OMIM:308230
Wolman Disease
Anemia, Hepatic failure, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Incr... ORPHA:1772
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Hepatomegal... ORPHA:1451
Testicular Agenesis
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... ORPHA:325124
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... OMIM:612714
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Splenic cyst, Unilateral renal agenesis, Hyperparathyroidism, Ovarian cyst OMIM:618188
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine OMIM:252900
Adams-Oliver Syndrome 5
Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Portal vein thrombosis, Right ventricular... OMIM:616028
Premature Ovarian Failure 6
Streak ovary, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... OMIM:612310
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Nephrotic syndrome, Hepatitis, Lymphocytosis, Elevated hepatic tran... ORPHA:139402
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Microcytic anemia, Hepatosplenomegaly OMIM:619750
Premature Ovarian Failure 18
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:619203
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Hepa... ORPHA:464329
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cirrhosis, Microvesicular hepatic steatosis, Anemia, Ventricular septal defect, Polysplenia, Macr... OMIM:619418
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Isolated Biliary Atresia
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Jaundice, Hypopituitarism... ORPHA:30391
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Lymphangioleiomyomatosis
Renal angiomyolipoma, Hematuria, Chylopericardium, Lymphadenopathy, Abnormal urinary color, Multi... ORPHA:538
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Meckel Syndrome 14
Hepatic fibrosis, Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus, Single... OMIM:619879
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Familial Mediterranean Fever
Splenomegaly, Nephrotic syndrome, Ascites, Pericarditis, Lymphadenopathy, Nephropathy, Proteinuri... ORPHA:342
Macrocephaly/Autism Syndrome
Hydrocele testis, Lymphopenia, Penile freckling, Hepatomegaly, Splenomegaly OMIM:605309
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypogonadism, Mitral valve prolapse, Azoospermia, Hypoplasia of penis, Atrial s... ORPHA:251066
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:169090
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... OMIM:607626
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Hepatic steatosis, Hypertrophic cardiomyopathy, Polycystic ovaries, Hepatomegaly, P... ORPHA:280365
Osteopetrosis, Autosomal Recessive 4
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:611490
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Spontaneous hemolytic crises, ... ORPHA:822
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Ambiguous genitalia, Premature thelarche, Precocious puberty, Incre... ORPHA:90795
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Juvenile Idiopathic Arthritis
Pericardial effusion, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly ORPHA:92
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypopituitarism, Hypersplenism, Reduced hemoglobin A, Jaundice, Hepa... ORPHA:231226
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Gaucher Disease, Type Iiic
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... OMIM:231005
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly OMIM:618541
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Ly... OMIM:603553
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephri... OMIM:304790
Pseudo-Torch Syndrome 1
Patent foramen ovale, Renal insufficiency, Jaundice, Elevated hepatic transaminase, Hepatomegaly,... OMIM:251290
Bardet-Biedl Syndrome 1
Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Left ventric... OMIM:209900
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Gaucher Disease, Type I
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Aortic valve stenosis, Thrombocytopenia, Splen... OMIM:230800
Mevalonic Aciduria
Anemia, Elevated urine mevalonic acid level, Elevated hepatic transaminase, Hepatosplenomegaly, N... OMIM:610377
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... OMIM:300908
Autoimmune Hepatitis
Cirrhosis, Fulminant hepatitis, Sclerosing cholangitis, Diffuse hepatic steatosis, Hepatocellular... ORPHA:2137
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, G... OMIM:137920
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus OMIM:617442
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... OMIM:278850
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Townes-Brocks Syndrome 2
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Anisopoikilocytosis, Reduced hemoglobin A, Hepatocell... ORPHA:231214
Mcleod Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Elevated cir... OMIM:300842
Estrogen Resistance
Polycystic ovaries, Breast aplasia, Hypoplasia of the uterus OMIM:615363
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Pancreatitis OMIM:610475
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Precocious puberty, Abnormal testis morphology, Polycystic ovaries, Testicular neoplasm, Goiter, ... ORPHA:457059
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Elevated hepatic transaminase, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopen... OMIM:617591
Thrombocytopenia, Anemia, And Myelofibrosis