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Gene: Disp3 MGI:2444403

Gene Summary

Name:

dispatched RND transporter family member 3

Synonyms:

Ptchd2, G630052C06Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal testis morphology	Disp3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal ovary morphology	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal urinary bladder morphology	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
small heart	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
increased bone mineral content	Disp3^em1(IMPC)Mbp	HOM	Early adult	2.62×10^-05
small testis	Disp3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged urinary bladder	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
hydrometra	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged ovary	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Disp3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal uterus morphology	Disp3^em1(IMPC)Mbp	HOM	Late 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

30 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 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.

Human diseases associated with Disp3 (0 diseases)
Human diseases predicted to be associated with Disp3 (719 diseases)

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	Matching phenotypes	Source
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Testes, Rudimentary	Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism	OMIM:273150
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Cryptorchidism, Unilateral Or Bilateral	Cryptorchidism, Unilateral cryptorchidism	OMIM:219050
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry...	OMIM:614840
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Enlarged polycystic ovaries, Abnormality of the ureter, B...	ORPHA:2869
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ...	OMIM:608709
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Long penis, Cardiomyopathy, Precocious puberty, Nephrocalcinosis, Increased...	ORPHA:769
Opitz Gbbb Syndrome	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, Crypt...	ORPHA:2745
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Rudiger Syndrome	Ureterovesical stenosis, Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Biliary cirrhosis, Enlarged polycystic ovaries, Glycosuria, N...	ORPHA:2298
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu...	ORPHA:753
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Kerion Celsi	Lymphadenopathy	ORPHA:499
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614858
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy, Hypog...	OMIM:602390
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Hypertrophic car...	ORPHA:508
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Polycystic ovaries, Hypergonadotropic hypogonadism	ORPHA:2229
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ascites, Enlarged polycystic ovaries, Ovarian cyst, Increased circulati...	ORPHA:64739
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventricular hypertrop...	ORPHA:335
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sinus enlargement, Bifid scrotum, Dy...	OMIM:618280
46,Xx Sex Reversal 4	Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ...	OMIM:617480
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
46,Xy Sex Reversal 8	Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism	OMIM:614279
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy	OMIM:105200
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin...	OMIM:273250
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female...	ORPHA:91
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
46,Xy Sex Reversal 10	Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic...	OMIM:616425
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Abnormal testis morphology, Lymphopenia,...	ORPHA:100
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra...	OMIM:614034
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr...	OMIM:606003
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Ovarian Fibrothecoma	Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepati...	ORPHA:2348
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Unilateral renal agenesis, Hypospadias, Abnormal o...	ORPHA:95699
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Anemia, Decreased glomerular filtration rate, Lymphadenop...	ORPHA:85450
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P...	ORPHA:3109
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovar...	ORPHA:79083
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Preeclampsia	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ...	ORPHA:275555
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly	OMIM:269920
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Xp22.3 Microdeletion Syndrome	Polycystic ovaries, Hypogonadotropic hypogonadism	ORPHA:1643
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Cryptorch...	ORPHA:1655
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Hypertrophic cardio...	ORPHA:528
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Bicornuate ute...	OMIM:601186
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Donohue Syndrome	Clitoral hypertrophy, Long penis, Cholestasis, Precocious puberty, Ovarian cyst, Hepatic fibrosis...	OMIM:246200
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Decreased skull ossification	OMIM:601163
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Ventricular septal defect	OMIM:620210
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow hypocellu...	ORPHA:549
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Akt2-Related Familial Partial Lipodystrophy	Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Distal Deletion 10P	Polycystic ovaries, Cryptorchidism, Hypoplasia of penis	ORPHA:1580
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Castleman Disease	Jaundice, Hematuria, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyop...	ORPHA:160
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial e...	ORPHA:36412
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten...	OMIM:613673
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Polycystic ovaries, Cryptorchidism, Hypergonadotropic hypogonadism	ORPHA:3085
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ...	OMIM:194072
Scrub Typhus	Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries, Ventricular septal defect, Abnormality of the ureter	ORPHA:1770
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Clitoral hypert...	OMIM:608594
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular sep...	OMIM:269700
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Cidec-Related Familial Partial Lipodystrophy	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:435651
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Rhabdoid Tumor	Hematuria, Lymphadenopathy, Anemia, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Cowden Syndrome	Adenoma sebaceum, Abnormal penis morphology, Enlarged polycystic ovaries, Abnormality of the uter...	ORPHA:201
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus	OMIM:601076
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux...	ORPHA:2237
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Acute pancreatitis, Cardiomyopathy, Proteinuria, Polycystic ovaries, Hep...	ORPHA:79086
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Atrial septal defect, Ventricular...	ORPHA:290
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma...	ORPHA:562
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s...	ORPHA:325124
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, ...	OMIM:146255
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Q Fever	Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Elevated circulating hepatic trans...	ORPHA:781
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:435660
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Cryoglobulinemic Vasculitis	Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Lipodystrophy, Familial Partial, Type 3	Cirrhosis, Hepatic steatosis, Polycystic ovaries	OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Renal cyst	OMIM:617100
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Hydronephrosis, Splenomegaly,...	OMIM:235255
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Pagod Syndrome	Situs inversus totalis, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality of ...	ORPHA:991
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Elevated circulating hepatic transaminase concentration, Hypergonadotropic hy...	OMIM:268020
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis	ORPHA:276280
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Chronic hepatic failure, Cardiomyopathy, Porta...	ORPHA:465508
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Tetralogy of Fallot, Thrombocytopenia, Horseshoe kidney, Abnormal cardiac ...	ORPHA:3320
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocyto...	ORPHA:139402
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619665
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Hypospadias, Azoospermia, Urogen...	ORPHA:1772
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Ascites, Abnor...	ORPHA:538
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Premature Ovarian Failure 6	Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei...	OMIM:612310
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619203
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno...	ORPHA:2905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Meckel Syndrome 14	Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis, Single...	OMIM:619879
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Mitral valve prolapse, Hypogonadis...	ORPHA:251066
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Incre...	ORPHA:90795
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Polycystic ovaries, Hepati...	ORPHA:280365
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Biliary tract abnormality, Hypogonadism, Lef...	OMIM:209900
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Mcleod Syndrome	Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno...	OMIM:300842
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Ovarian cyst	OMIM:610475
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Hypospadias, Unilateral renal agenesis, ...	OMIM:137920
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Papa Syndrome	Lymphadenopathy, Proteinuria	ORPHA:69126
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Nodular goiter, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal ...	ORPHA:371428
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct...	OMIM:154230
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Ascites, Nephrotic syndrome, Pericardial effusion, Nephritis, Leukope...	ORPHA:93552
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:168558
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
Bangstad Syndrome	Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology	ORPHA:1227
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:289548
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
H Syndrome	Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly, Mic...	ORPHA:168569
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo...	OMIM:276700
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Hypoplasminogenemia	Cervicitis, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of the ovary	ORPHA:722
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia...	ORPHA:84064
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Meckel Syndrome 12	Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia	OMIM:616258
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Perrault Syndrome 4	Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico...	OMIM:615300
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ...	ORPHA:322
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Vaginal Atresia	Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,...	ORPHA:65681
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Cowden Syndrome 1	Varicocele, Ovarian cyst, Lymphopenia, Goiter, Ovarian carcinoma, Hydrocele testis	OMIM:158350
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:201100
Hereditary Orotic Aciduria	Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myocardium morph...	ORPHA:32960
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val...	ORPHA:2729
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ...	ORPHA:228123
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Ventricular septal def...	OMIM:222470
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Chops Syndrome	Patent foramen ovale, Vesicoureteral reflux, Anomalous pulmonary venous return, Cryptorchidism, S...	OMIM:616368
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Anemia, Increased hepatic gl...	ORPHA:79259
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Truncus arteriosus, Hypoplasia of the thymus, ...	OMIM:188400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Abnormal heart morphology, Ovarian cyst, Proteinuria, Hepatic cysts,...	OMIM:311200
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Abnormal vagina morphology, Hydronephros...	OMIM:236680
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma	ORPHA:454840
Gaucher Disease Type 3	Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Atrioventricular canal defect, Vesicoureteral reflux, Aplasia of th...	OMIM:274000
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci...	OMIM:618419
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Acute Promyelocytic Leukemia	Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone marrow hypocellu...	OMIM:614083
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco...	ORPHA:100079
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Cowden Syndrome 6	Varicocele, Ovarian cyst, Goiter, Hydrocele testis	OMIM:615109
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Cardiomegaly, Polycystic ovaries, Ventricular septal defect	ORPHA:137675
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Atrioventricular canal defect, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Cowden Syndrome 5	Goiter, Ovarian cyst, Hydrocele testis	OMIM:615108
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Hepatic steatosis, Polycystic ovaries	OMIM:151660
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal testis morphology, Bone marro...	ORPHA:1775
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil...	ORPHA:31150
Bardet-Biedl Syndrome	Hydrometrocolpos, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of ...	ORPHA:110
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Wolfram Syndrome 1	Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus	OMIM:222300
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmo...	ORPHA:2136
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He...	ORPHA:1359
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Card...	OMIM:610717
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Short Syndrome	Ovarian cyst	OMIM:269880
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Histiocytoid cardiomyopat...	OMIM:309801
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Nephropathy	ORPHA:29073
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis	OMIM:616843
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Elevated circula...	ORPHA:3260
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc...	ORPHA:797
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Crimean-Congo Hemorrhagic Fever	Ascites, Leukopenia, Splenomegaly, Cholecystitis, Myocarditis, Jaundice, Pancytopenia, Neutrophil...	ORPHA:99827
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymphadenopathy, An...	ORPHA:635
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti...	ORPHA:289390
Behçet Disease	Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Abnormal myocardium morp...	ORPHA:117
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl...	ORPHA:565612
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Hepatitis, Nephrotic syndrome, P...	OMIM:615846
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Ovarian Dysgenesis 3	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:614324
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites	ORPHA:139411
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Increased circulating gonadotropin le...	ORPHA:99413
Turner Syndrome	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Increased circulating gonadotropin le...	ORPHA:881
Mosaic Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Increased circulating gonadotropin le...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Increased circulating gonadotropin le...	ORPHA:99226
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Ascites, Urethrovaginal fistula, Splenomegaly, Septate vagina, Intrahepatic...	OMIM:243800
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Biliary...	OMIM:194190
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Ovarian cyst, Elevated circ...	ORPHA:249
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal pulmonary valve morphology	ORPHA:667
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re...	OMIM:263700
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormal...	ORPHA:90340
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Parotitis...	OMIM:256040
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Leukocytosis, D...	ORPHA:2331
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi...	ORPHA:509
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Williams Syndrome	Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol...	ORPHA:904
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of...	ORPHA:449563
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T ...	OMIM:619381
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Osteoporosis, Cryptorchidism, Testicular atrophy	ORPHA:3063
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Mitral valve prolapse, Cystocel...	OMIM:130050
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Cryptorchi...	OMIM:135900
African Trypanosomiasis	Myocarditis, Jaundice, Urinary incontinence, Lymphadenopathy, Hepatomegaly, Abnormal prolactin le...	ORPHA:3385
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus	OMIM:110100
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Leukopenia, Proteinuria, Thrombocytopenia, Hemolytic anemia, ...	ORPHA:536
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo...	ORPHA:99889
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor...	ORPHA:273
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Pulmonic stenosis, ...	OMIM:261540
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect, Bifid uteru...	OMIM:256520
Peters Plus Syndrome	Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Bicuspid p...	ORPHA:709
Plague	Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Abnormal heart valve morphology, Renovascular hypertension, Uterine...	ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Hypertrophic ...	OMIM:601803
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Disp3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Disp3.

No publications found that use IMPC mice or data for Disp3.

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MGI Allele	Allele Type	Produced
Disp3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Disp3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Disp3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Disp3 MGI:2444403

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Disp3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data