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Gene: Ppp4r3b MGI:2144474

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Gene Summary

Name:
protein phosphatase 4 regulatory subunit 3B
Synonyms:
Smek2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal kidney morphology Ppp4r3btm1b(EUCOMM)Hmgu HOM Late adult 0.00
abnormal thymus morphology Ppp4r3btm1b(EUCOMM)Hmgu HOM Late adult 0.00
enlarged uterus Ppp4r3btm1b(EUCOMM)Hmgu HOM Late adult 0.00
enlarged spleen Ppp4r3btm1b(EUCOMM)Hmgu HOM Late adult 0.00
impaired glucose tolerance Ppp4r3btm1b(EUCOMM)Hmgu HOM Early adult 6.85×10-06
abnormal gait Ppp4r3btm1b(EUCOMM)Hmgu HOM Late adult 5.09×10-06
abnormal ovary morphology Ppp4r3btm1b(EUCOMM)Hmgu HOM Late adult 0.00
enlarged lymph nodes Ppp4r3btm1b(EUCOMM)Hmgu HOM Late adult 0.00
decreased bone mineral density Ppp4r3btm1b(EUCOMM)Hmgu HOM   Late adult 1.77×10-05
abnormal liver morphology Ppp4r3btm1b(EUCOMM)Hmgu HOM Late adult 0.00
increased total retina thickness Ppp4r3btm1b(EUCOMM)Hmgu HOM Early adult 1.87×10-07

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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

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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Human diseases caused by Ppp4r3b mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp4r3b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy, Abnormal oral glucose tolerance OMIM:311100
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Diabetes mellitus, Rod-cone dystrophy OMIM:158500
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure ORPHA:46532
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat... ORPHA:882
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold OMIM:605750
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:100024
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Joint hypermobility, Gait dist... ORPHA:1875
Rudiger Syndrome
Ureterovesical stenosis, Ovarian cyst, Micropenis, Flexion contracture, Bicornuate uterus OMIM:268650
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Hepatomegaly, Recurrent fractures, Splenomegaly ORPHA:417
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density ORPHA:172
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Limb ataxia, Gait ataxia, Splenomeg... OMIM:616719
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat... ORPHA:1414
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... ORPHA:2585
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Splenome... OMIM:613313
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,... OMIM:617805
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Sandhoff Disease
Hepatomegaly, Splenomegaly, Ataxia ORPHA:796
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Osteopenia, Splenomegaly, Hepatomegaly, Anemia, Recurrent fractures OMIM:618107
Trimethylaminuria
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia OMIM:602079
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Ovarian Fibroma
Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri... ORPHA:314473
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism... OMIM:614837
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Perrault Syndrome 4
Gait ataxia, Hypoplasia of the ovary, Increased circulating gonadotropin level, Osteoporosis, Hyp... OMIM:615300
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Ectopic kidney, Aplasia/hypoplasia of the uterus ORPHA:2578
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Proteinuria, Gait disturbance, Ataxia, Hepatomegaly, Nephrotic syndrome, A... ORPHA:834
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture OMIM:608540
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Osteopenia, Osteoporosis ORPHA:397685
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increased bone mine... ORPHA:37748
Ovarian Fibrothecoma
Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria... ORPHA:314478
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic... ORPHA:848
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Arthritis, Hepatomegaly OMIM:602390
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome OMIM:105200
Aicardi-Goutieres Syndrome 6
Splenomegaly, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Ataxia, Hepatomegaly, Osteolysis ORPHA:391
Wolman Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure OMIM:620151
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo... OMIM:211600
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Sialidosis Type 2
Nephropathy, Ascites, Splenomegaly, Ataxia, Hepatomegaly, Osteoporosis, Flexion contracture ORPHA:87876
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Niemann-Pick Disease, Type A
Athetosis, Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate ami... OMIM:257200
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... ORPHA:199310
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl... OMIM:619151
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Lymphadenopathy ORPHA:42642
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Vaginal hematocele, ... ORPHA:65681
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b... OMIM:611490
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Renal insuffici... OMIM:194072
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis OMIM:612126
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Cal... OMIM:612714
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia OMIM:615085
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism OMIM:615524
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ... OMIM:613490
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Rickets, Elevated circulating he... OMIM:607765
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney OMIM:601076
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys ORPHA:3411
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:618117
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelitis, Lymphadenopathy, Thromb... OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Breast hypoplasia, Enlarged polycystic ovaries, Incr... ORPHA:785
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermi... ORPHA:432
46,Xx Gonadal Dysgenesis
Osteopenia, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Ataxia, Increased... ORPHA:243
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Joint stiffness, Leukopenia, Splenomegaly, Joint hypermobility, Hepatomegaly, Reduce... OMIM:620210
Hemochromatosis, Type 1
Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card... OMIM:235200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Re... ORPHA:97290
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r... ORPHA:2470
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:617690
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Uterus didelphys, Cryptorchidism ORPHA:1756
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated... OMIM:273250
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Decreased skull ossification, Flexion contracture, Bicornuate uterus, Polycy... OMIM:263210
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Pathologic fracture, Acute he... ORPHA:905
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... OMIM:300853
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t... OMIM:228000
Babesiosis
Hepatic failure, Limitation of joint mobility, Leukopenia, Renal insufficiency, Splenomegaly, Thr... ORPHA:108
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Abnormality of endocrine ... ORPHA:93111
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Ascites, Epiphyseal stippling, Increased urinar... OMIM:256550
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... OMIM:137920
Estrogen Resistance
Breast aplasia, Osteopenia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Hepatomegaly, Osteopenia, ... ORPHA:77259
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal... ORPHA:54251
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Hepatic failure, Increased hepa... OMIM:278000
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin... ORPHA:2795
Joubert Syndrome 33
Splenomegaly, Ataxia OMIM:617767
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia, Hepatomegaly OMIM:231000
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis... OMIM:613489
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I... ORPHA:755
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... OMIM:146255
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis OMIM:611762
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, Arthritis, B lymphocytopenia, Hepatomegaly ORPHA:397596
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Ane... ORPHA:79312
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... ORPHA:158057
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Limitation of joint mobility, Splenomegaly ORPHA:93476
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly ORPHA:75563
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hypoplasia, Auto... OMIM:613179
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Tafro Syndrome
Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Lymph... ORPHA:457077
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased testicular size, Reduced bone mineral d... ORPHA:90796
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomeg... ORPHA:1655
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Omodysplasia 2
Uterus didelphys, Limited elbow flexion, Cryptorchidism, Labial hypoplasia, Micropenis, Hypospadi... OMIM:164745
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... OMIM:254450
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... OMIM:609981
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an... OMIM:603909
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Donnai-Barrow Syndrome
Proteinuria, Bicornuate uterus, Abnormality of the uterus ORPHA:2143
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Ambiguous genitalia, female, Vesicoureteral reflux, Joint hypermobilit... OMIM:606408
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret... OMIM:194380
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
46,Xy Sex Reversal 4
Gonadal dysgenesis, Distal symphalangism, Ureteropelvic junction obstruction, Hydronephrosis, Hyp... OMIM:154230
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis OMIM:612526
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Leukopenia, Pancytopenia, Abnormal macro... ORPHA:507
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos... OMIM:606003
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Eleva... OMIM:216360
Cryoglobulinemic Vasculitis
Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Arthritis, H... ORPHA:91138
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Hand-Foot-Genital Syndrome
Uterus didelphys, Bifid scrotum, Delayed ossification of carpal bones, Pyelonephritis, Renal insu... OMIM:140000
Functioning Gonadotropic Adenoma
Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation... ORPHA:91348
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating prolactin concentration, Osteomalacia, Cholestasis... ORPHA:562
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rheumatoid arthritis ORPHA:85414
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Lumbar Syndrome
Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... ORPHA:83628
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... OMIM:263200
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo... OMIM:278850
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Fryns Microphthalmia Syndrome
Unicornuate uterus OMIM:600776
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the uterus, Decreased testicular size, ... ORPHA:2970
Osteopetrosis, Autosomal Recessive 1
Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Hepatomegaly, Ost... OMIM:259700
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Retinopathy,... ORPHA:552
Meckel Syndrome 12
Renal hypoplasia, Arthrogryposis multiplex congenita, Vaginal atresia, Hypoplasia of the uterus, ... OMIM:616258
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Cardiomegaly, Hepatomegaly, De... OMIM:252920
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Reduced renal corticomedullary differentiation, Osteopetrosis, Splenomegaly OMIM:618541
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Hypopl... OMIM:601186
Hand-Foot-Genital Syndrome
Abnormality of the urethra, Synostosis of carpal bones, Abnormality of the uterus, Ureteropelvic ... ORPHA:2438
Majeed Syndrome
Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractures, Proteinuria, Sy... ORPHA:77297
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Renal insuff... ORPHA:2237
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Flexion co... ORPHA:85212
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Flexion contracture OMIM:619183
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp... OMIM:603903
Duplication Of Urethra
Urinary incontinence, Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Anuria, Dysuria, Rec... ORPHA:237
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu... ORPHA:79240
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly OMIM:616589
Felty Syndrome
Bone marrow hypocellularity, Limitation of joint mobility, Abnormal lymphocyte morphology, Spleno... ORPHA:47612
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology ORPHA:247768
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, ... ORPHA:465508
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr... ORPHA:90797
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Satoyoshi Syndrome
Osteolytic defects of the phalanges of the hand, Hypoplasia of the uterus OMIM:600705
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ... ORPHA:2137
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Microsporidiosis
Nephritis, Lymphadenitis, Abnormality of the parathyroid gland, Hepatitis, Urethritis, Abnormalit... ORPHA:2552
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Renal Hypodysplasia/Aplasia 1
Vaginal atresia, Proteinuria, Bicornuate uterus OMIM:191830
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Sagittal craniosynostosis, Shawl scrotum, Bicornuate uterus, Hydrocele ... OMIM:145420
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Joint stiffness, Splenomegaly, Hepatomegaly, Dense calvaria OMIM:252900
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Osteomal... ORPHA:289157
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Joint hypermobility, Hepatomegaly, Hydrocele testis OMIM:605309
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Neutrophilia, Hepatomegaly, Osteolysis, Fus... OMIM:612852
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Hypospadias, Increased density of long bones, Hydroureter, Ureteral stenosis, Sple... OMIM:269150
Hb Bart'S Hydrops Fetalis
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia OMIM:617914
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Arthritis, Hepatomegaly,... OMIM:616100
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Gait ataxia, Splenomegaly, Fatal liver failure in infancy,... OMIM:257220
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Kaposiform Lymphangiomatosis
Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormal... ORPHA:464329
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clitoral hypertrophy, Hydroureter, Septate vagina, Crossed fused renal ectopia, Vesicoureteral re... OMIM:300707
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic ... OMIM:251880
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gona... OMIM:618419
Bardet-Biedl Syndrome 1
Ataxia, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Gait... OMIM:209900
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Agammaglobulinemia, X-Linked
Septic arthritis, Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, Ent... OMIM:300755
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension,... OMIM:610199
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... OMIM:620367
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:232220
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... ORPHA:39041
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... ORPHA:398124
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Mosaic Trisomy 9
Hypoplastic female external genitalia, Limitation of joint mobility, Abnormality of the uterus, C... ORPHA:99776
Scheie Syndrome
Limitation of joint mobility, Joint stiffness, Splenomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:93474
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Hyperostosis, Splenomegaly, Polycystic ... ORPHA:2969
Oeis Complex
Hydroureter, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Hydronephrosis, Ambiguo... OMIM:258040
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Gait disturbance, Thin bony cortex, Ataxia... OMIM:230600
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:549
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus... OMIM:608978
Woodhouse-Sakati Syndrome
Osteopenia, Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimula... ORPHA:3464
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bon... ORPHA:2905
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... OMIM:158330
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Elevated circulating h... OMIM:614527
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Camptodactyly of finger, Decreased response to g... OMIM:602782
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Di... ORPHA:309854
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept... ORPHA:98849
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Splenomegaly, Ataxia, Hepatomegaly OMIM:201100
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Hepatomegaly,... OMIM:617591
Chediak-Higashi Syndrome
Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Gait... OMIM:214500
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Carpal synostosis, Tarsal synostosis, Elevated ci... OMIM:609441
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Hematuria, Proteinuria, Hepato... ORPHA:77261
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa... OMIM:603553
Gaucher Disease, Type I
Pathologic fracture, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, A... OMIM:230800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... ORPHA:90793
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color ORPHA:90037
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Mixed Connective Tissue Disease
Nephropathy, Leukopenia, Hemolytic anemia, Joint stiffness, Splenomegaly, Lymphadenopathy, Arthri... ORPHA:809
Tyrosinemia, Type I
Nephrocalcinosis, Hepatic failure, Elevated urinary succinylacetone level, Elevated circulating h... OMIM:276700
Fraser-Like Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst OMIM:229230
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Labial hypertrophy... OMIM:608594
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Limitation of joint mobility, Abnormal female ext... ORPHA:95699
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Osteopenia, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia,... ORPHA:2232
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon... OMIM:615512
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Porphyria, Congenital Erythropoietic
Osteopenia, Cholelithiasis, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Red... OMIM:263700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest... OMIM:615895
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomat... OMIM:233710
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Hyperostosis, Splenomegaly ORPHA:53715
Pagod Syndrome
Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphology of female internal g... ORPHA:991
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypercalciuria, Polyuria, Anemia, R... OMIM:239200
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia OMIM:139090
Wilson Disease
Osteomalacia, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine a... OMIM:277900
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja... ORPHA:90033
Alg9-Cdg
Periportal fibrosis, Hepatic cysts, Hydronephrosis, Hypoplastic nipples, Hypoplasia of the ovary,... ORPHA:79328
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Labial hypertrophy... OMIM:269700
Smith-Lemli-Opitz Syndrome
Small scrotum, Cryptorchidism, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypospadias, Precociou... OMIM:270400
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Stomatocytosis, Inability to walk, Splenomegaly, Ataxia, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomat... OMIM:233690
Fryns Syndrome
Joint contracture of the hand, Ectopic pancreatic tissue, Bifid scrotum, Polysplenia, Cryptorchid... OMIM:229850
Dyskeratosis Congenita
Bone marrow hypocellularity, Hepatic failure, Coarse metaphyseal trabecularization, Abnormal morp... ORPHA:1775
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis ORPHA:722
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Peutz-Jeghers Syndrome
Uterine neoplasm, Bile duct polyp, Abnormality of the ureter, Ovarian cyst, Biliary tract abnorma... OMIM:175200
Beaulieu-Boycott-Innes Syndrome
Horseshoe kidney, Unilateral renal agenesis, Endometriosis OMIM:613680
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau... OMIM:301068
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Labial hypopl... ORPHA:140952
Fanconi Anemia
Hydroureter, Abnormality of the uterus, Hypogonadism, Azoospermia, Leukopenia, Renal insufficienc... ORPHA:84
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Ataxia, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, H... OMIM:616084
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Opitz Gbbb Syndrome
Tracheomalacia, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Enlarged ov... ORPHA:2745
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Bicornuate u... ORPHA:2059
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Elbow flexion contracture, Abnormality of the ureter, Unicornuat... OMIM:200980
Exstrophy-Epispadias Complex
Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Bifid scrotum, Horseshoe kidne... ORPHA:322
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Craniosynostosis, Bifid uterus, Supernumerary nipple ORPHA:1521
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve... OMIM:260920
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... ORPHA:30
Pseudotrisomy 13 Syndrome
Micropenis, Renal hypoplasia, Bicornuate uterus, Cryptorchidism OMIM:264480
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Joint stiffness, Streak ovary, Crypto... OMIM:618820
Gaucher Disease
Pancytopenia, Hematuria, Cirrhosis, Ataxia, Hepatomegaly, Abnormal bone structure, Osteopenia, Ch... ORPHA:355
Donnai-Barrow Syndrome
Proteinuria, Bicornuate uterus, Non-acidotic proximal tubulopathy OMIM:222448
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst, Uterine leiomyoma OMIM:617100
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp... ORPHA:186
Woodhouse-Sakati Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, C... OMIM:241080
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Cholelithiasis, Hepatic failure, Decreased liver function, Pathologic fracture, Hyper... ORPHA:77293
Currarino Syndrome
Horseshoe kidney, Septate vagina, Vesicoureteral reflux, Neurogenic bladder, Urinary incontinence... OMIM:176450
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Inability to walk, Renal artery st... OMIM:617913
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Septate vagina, Absent gallbladder, Decreased calvarial ossification, Micropenis OMIM:617925
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
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent... OMIM:620376
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Ascites, Acute hepatic failure, Leukocytosis, Splenomegaly, Orchit... ORPHA:342
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Splenomegaly, Lymphadenopathy,... ORPHA:29073
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Horseshoe kidney, Endometriosis, Camptodactyly, Micropenis, Hypospadias ORPHA:363444
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, ... ORPHA:158048
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomega... ORPHA:2729
Meckel Syndrome 14
Hepatic fibrosis, Decreased calvarial ossification, Aplasia of the uterus, Ambiguous genitalia, P... OMIM:619879
Familial Mediterranean Fever
Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Arthritis, Neu... OMIM:249100