Gene Summary

Name:
PDLIM1 interacting kinase 1 like
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hydrometra Pdik1lem1(IMPC)Mbp HOM Early adult 0.00
abnormal epididymis morphology Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
abnormal adrenal gland morphology Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
enlarged heart Pdik1lem1(IMPC)Mbp HOM Early adult 0.00
abnormal urinary bladder morphology Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
thick skin Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
increased spleen weight Pdik1lem1(IMPC)Mbp HOM Early adult 2.04×10-08
enlarged spleen Pdik1lem1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
abnormal coat/ hair morphology Pdik1lem1(IMPC)Mbp HOM Late adult 6.32×10-05
abnormal epididymis morphology Pdik1lem1(IMPC)Mbp HOM Early adult 0.00
abnormal coat appearance Pdik1lem1(IMPC)Mbp HOM Middle aged adult 9.36×10-06
enlarged spleen Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
decreased hematocrit Pdik1lem1(IMPC)Mbp HOM Late adult 5.94×10-06
enlarged epididymis Pdik1lem1(IMPC)Mbp HOM Early adult 0.00
abnormal uterus morphology Pdik1lem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Pdik1lem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Pdik1lem1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
increased red blood cell distribution width Pdik1lem1(IMPC)Mbp HOM Early adult 7.82×10-14
abnormal skin morphology Pdik1lem1(IMPC)Mbp HOM Late adult 0.00
decreased erythrocyte cell number Pdik1lem1(IMPC)Mbp HOM Late adult 5.38×10-06
abnormal eye morphology Pdik1lem1(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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Pdik1l 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 Pdik1l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... OMIM:615631
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Anemia, Cirrhosis, Hypochr... OMIM:616860
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Ethanolaminosis
Cardiomegaly OMIM:227150
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Anemia, Cirrhosis, Hepatomegaly OMIM:613313
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r... ORPHA:2470
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Hypochromia, Poikilocytosi... OMIM:615234
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Microphthalmia, Syndromic 12
Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:615524
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... OMIM:300835
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... ORPHA:983
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... OMIM:258900
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Oculocerebrocutaneous Syndrome
Alopecia, Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi... OMIM:301310
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy OMIM:608540
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Meckel Syndrome, Type 8
Anophthalmia, Ambiguous genitalia, Microphthalmia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613885
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos... OMIM:618278
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, ... OMIM:235200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Wolman Disease
Hepatomegaly, Adrenal calcification, Splenomegaly, Acute hepatic failure OMIM:620151
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... ORPHA:98870
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Alpha-Heavy Chain Disease
Alopecia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Trisomy 13
Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Anop... ORPHA:3378
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Fryns Microphthalmia Syndrome
Unicornuate uterus, Anophthalmia, Microphthalmia OMIM:600776
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:100024
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis OMIM:604273
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... ORPHA:755
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Thick eyebrow, Anophthalmia, Low anterior hairline, Synophrys ORPHA:411986
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells OMIM:607616
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De... OMIM:617514
Osteopetrosis, Autosomal Recessive 8
Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:269920
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Hepatosplenomegaly, Hype... OMIM:278000
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypopl... OMIM:619151
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Whim Syndrome 1
Abnormal female external genitalia morphology, Neutropenia, Abnormal morphology of female interna... OMIM:193670
46,Xy Sex Reversal 11
Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... OMIM:273250
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:611783
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
46,Xy Sex Reversal 3
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... OMIM:612965
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... ORPHA:3453
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Hereditary Breast And/Or Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas ORPHA:145
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Thrombo... ORPHA:96181
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Microphthalmia, Syndromic 9
Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Horseshoe kidney, Cryptorchidi... OMIM:601186
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Cryptorchidism, Congenital hepa... ORPHA:564
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis ORPHA:163596
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv... OMIM:610125
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m... OMIM:256550
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice ORPHA:75234
Cockayne Syndrome Type 2
Hepatomegaly, Male hypogonadism, Cryptorchidism, Anophthalmia ORPHA:90322
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Wolman Disease
Hepatic failure, Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegal... ORPHA:75233
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci... ORPHA:90790
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Cerebrooculonasal Syndrome
Hypoplasia of penis, Sparse eyebrow, Anophthalmia, Sparse eyelashes ORPHA:66625
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele... OMIM:619868
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias ORPHA:77298
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon... OMIM:618892
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Trisomy 1Q
Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Anophthalmia, Hydronephrosis, Ambigu... ORPHA:261344
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype... OMIM:601859
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... OMIM:615830
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... ORPHA:158057
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Cockayne Syndrome Type 1
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Renal insufficiency, ... ORPHA:90321
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe... ORPHA:59303
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome OMIM:105200
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Aplasia/Hypoplasia of the iris, Hepatomegaly, Thrombocyto... ORPHA:290
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Hydrolethalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:2189
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Babesiosis
Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J... ORPHA:108
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Aicardi-Goutieres Syndrome 4
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno... OMIM:610333
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran... OMIM:602347
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... OMIM:619463
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly ORPHA:79312
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:139471
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:37748
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
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-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Anencephaly 2
Anophthalmia OMIM:619452
Microphthalmia, Isolated 8
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:615113
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... ORPHA:90797
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hepatomegaly, Diabetes mellitus OMIM:612526
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly OMIM:616719
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly OMIM:300635
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... ORPHA:325124
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, Cr... ORPHA:95699
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Foll... OMIM:603909
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... ORPHA:189427
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypercalciuria, Gl... ORPHA:251274
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutrop... ORPHA:79477
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Microphthalmia With Limb Anomalies
Abnormal eyelash morphology, Unilateral cryptorchidism, Anophthalmia, Microphthalmia OMIM:206920
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ... ORPHA:507
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Pulmonary Lymphangiectasia
Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Premature Ovarian Failure 7
Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis OMIM:612964
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Tetraamelia Syndrome 1
Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Microphthalmia, Vaginal atre... OMIM:273395
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly OMIM:611490
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Walker-Warburg Syndrome
Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:899
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Omenn Syndrome
Alopecia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,... ORPHA:39041
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ... ORPHA:398124
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... OMIM:226990
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, H... ORPHA:465508
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Cryptorchidi... ORPHA:1655
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Cervical lymphadenopathy, Azoospermia, Hepatosplenomegaly, Splenomegaly, M... OMIM:602782
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... OMIM:614837
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Solitary Median Maxillary Central Incisor
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... OMIM:147250
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the spleen, Crossed fused renal ec... ORPHA:2538
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Vaginal hematocele, ... ORPHA:65681
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Pr... OMIM:620367
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... OMIM:212140
Holoprosencephaly
Highly arched eyebrow, Abnormality of the spleen, Panhypopituitarism, Thick eyebrow, Cryptorchidi... ORPHA:2162
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Sp... OMIM:607626
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula... OMIM:613812
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Lymph... ORPHA:457077
Mulibrey Nanism
Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm... OMIM:301078
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Atri... ORPHA:79330
Omenn Syndrome
Alopecia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenop... OMIM:603554
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Low posterior hairline, Decreased... OMIM:611881
Von Hippel-Lindau Syndrome
Polycythemia, Pancreatic cysts, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Hepatic he... OMIM:193300
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Splenomegaly, Hypogonadotropic ... ORPHA:251066
Adams-Oliver Syndrome 6
Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect OMIM:616589
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:263400
Joubert Syndrome 33
Splenomegaly OMIM:617767
14Q22Q23 Microdeletion Syndrome
Small scrotum, Renal hypoplasia, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Adrenal hypop... ORPHA:264200
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Lymphadenopath... ORPHA:100026
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalciuria, Polyuria OMIM:613677
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia, Nephrolithiasis ORPHA:369929
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Facial hirsutism, Splenomegaly, Pr... OMIM:170100
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit... OMIM:206900
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H... ORPHA:77259
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites OMIM:614702
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas... ORPHA:2250
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme... OMIM:616028
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly OMIM:618398
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Long eyelashes, Anophthalmia, Microphthalmia, Hypospadias OMIM:615877
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycystic ovaries, General... ORPHA:79083
Manitoba Oculotrichoanal Syndrome
Vaginal atresia, Abnormality of the hairline, Anophthalmia, Microphthalmia OMIM:248450
Gaucher Disease, Type I
Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepat... OMIM:230800
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... ORPHA:294
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Adrenal gland dysgenesis, Microphth... OMIM:236680
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, H... ORPHA:2348
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Micropenis, Hyposp... OMIM:616897
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ... ORPHA:99889
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Perrault Syndrome 3
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:614129
Oculotrichoanal Syndrome
Abnormal hair pattern, Anophthalmia, Microphthalmia ORPHA:2717
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Atr... ORPHA:3109
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Type I diabetes mellitus, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Splenomegaly, Lym... ORPHA:436159
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy,... OMIM:616100
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Hypoplasia of the uterus, Hypospadias, Epididy... OMIM:137920
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... OMIM:601847
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Aplasia of the uterus, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3320
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pericarditis ORPHA:85414
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest... OMIM:615895
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Hypog... ORPHA:2905
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, Adrenal hyper... ORPHA:231580
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ovotestis, Hypospadias, Adrenal gland agenesis, Sex reversal OMIM:611812
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci... ORPHA:96253
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... OMIM:618935
Chediak-Higashi Syndrome
Silver-gray hair, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatome... OMIM:214500
Immunodeficiency 10
Hypoplasia of the iris, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym... OMIM:612783
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:264580
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splen... OMIM:612541
46,Xx Sex Reversal 2
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... OMIM:278850
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic ... OMIM:251880
Pagod Syndrome
Hypoplastic left heart, Abnormality of the uterus, Abnormal morphology of female internal genital... ORPHA:991
Joubert Syndrome 21
Renal cyst, Splenomegaly, Anophthalmia OMIM:615636
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath... ORPHA:47612
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... OMIM:201475
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Incr... OMIM:620376
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Fibular Hemimelia
Anophthalmia, Thrombocytopenia ORPHA:93323
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Charge Syndrome
Webbed neck, Highly arched eyebrow, Bifid scrotum, Abnormal morphology of female internal genital... ORPHA:138
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Ascites, Pancreatic lymphangiectasis, Cryptorchidism, Splenomegaly, Ventricular septal defect, Th... OMIM:235255
Fraser Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Bilateral microphthalmos, Extension of hair growth on tem... OMIM:219000
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Charge Syndrome
Lymphopenia, Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoparathy... OMIM:214800
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Vacterl With Hydrocephalus
Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia ORPHA:3412
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ... ORPHA:169090
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Hepatic steatosis ORPHA:42
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu... ORPHA:2556
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly ORPHA:3386
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,... OMIM:263200
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Splenomegaly, Hepatomegaly OMIM:201100
Gaucher Disease, Perinatal Lethal
Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:608013
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ... ORPHA:2137
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Hepatomegaly OMIM:300842
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... ORPHA:464329
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Cirrhotic Cardiomyopathy
Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice... ORPHA:57777
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Myocarditis, Anemia, Generali... ORPHA:829
Satoyoshi Syndrome
Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Cryptorchidism, Anophthalmia ORPHA:1101
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormal hair morphology, Leukonychia, Anophthalmia, Melanonychia, Microphthalmia, Leukemia, Abno... ORPHA:2526
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume OMIM:153670
Von Hippel-Lindau Disease
Elevated circulating catecholamine level, Polycythemia, Pancreatic cysts, Elevated urinary catech... ORPHA:892
Cerebrooculonasal Syndrome
Sparse eyebrow, Anophthalmia, Sparse eyelashes, Hypoplastic male external genitalia, Optic nerve ... OMIM:605627
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Meckel Syndrome 14