Gene Summary

Name:
trafficking protein particle complex 2-like
Synonyms:
Tca17,  1810017G16Rik

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
abnormal testis morphology Trappc2lem1(IMPC)Mbp HOM Early adult 0.00
decreased erythrocyte cell number Trappc2lem1(IMPC)Mbp HOM Early adult 6.15×10-06
female infertility Trappc2lem1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Trappc2lem1(IMPC)Mbp HOM Early adult 4.30×10-09
increased mean corpuscular volume Trappc2lem1(IMPC)Mbp HOM Early adult 2.22×10-22
male infertility Trappc2lem1(IMPC)Mbp HOM Early adult 0.00
increased mean platelet volume Trappc2lem1(IMPC)Mbp HOM Early adult 1.94×10-05
decreased body length Trappc2lem1(IMPC)Mbp HOM Early adult 1.82×10-05
enlarged spleen Trappc2lem1(IMPC)Mbp HOM Early adult 0.00
small testis Trappc2lem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Trappc2lem1(IMPC)Mbp HOM Early adult 0.00
abnormal bone structure Trappc2lem1(IMPC)Mbp HOM   Early adult 1.08×10-07
decreased bone mineral content Trappc2lem1(IMPC)Mbp HOM Early adult 2.57×10-10
increased heart weight Trappc2lem1(IMPC)Mbp HOM Early adult 2.86×10-10
abnormal spleen morphology Trappc2lem1(IMPC)Mbp HOM Early adult 0.00
increased mean corpuscular hemoglobin Trappc2lem1(IMPC)Mbp HOM Early adult 1.44×10-06
enlarged heart Trappc2lem1(IMPC)Mbp HOM Early adult 0.00
hypoactivity Trappc2lem1(IMPC)Mbp HOM Early adult 6.42×10-06

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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.

Histopathology

Images

123 Images

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Trappc2l 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.

The table below shows human diseases associated to Trappc2l by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Inability to walk OMIM:618331

The table below shows human diseases predicted to be associated to Trappc2l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, I... OMIM:619271
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Decreased skull ossification, Abnormal cardiac septum morphology, Th... ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly ORPHA:2274
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... OMIM:155100
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormality of the endocrine system, Giant platelets OMIM:608404
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Giant platelets, Congen... ORPHA:182050
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia OMIM:153670
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... OMIM:153640
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Bernard-Soulier Syndrome
Thrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Diabetes m... ORPHA:231222
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Anemia, Abno... ORPHA:848
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iro... OMIM:616860
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Ethanolaminosis
Cardiomegaly OMIM:227150
Ring Chromosome Y Syndrome
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... ORPHA:261529
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Osteoporosis, Abnormality of t... ORPHA:2169
Pelger-Huet Anomaly
Ventricular septal defect, Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, T... OMIM:169400
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia... OMIM:611590
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Neutropenia, Increased mean corpuscular volume, Ost... OMIM:612562
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Classic Galactosemia
Secondary amenorrhea, Gait imbalance, Decreased serum insulin-like growth factor 1, Reduced bone ... ORPHA:79239
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcinoma, Ascites, Hyp... OMIM:235200
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Anisopoikilocytosis, Elevated hepatic iron concentration, Azoospermia, Ane... ORPHA:300298
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, D... ORPHA:231226
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Pulmonic stenosis, Ataxia, Abnormal cardiac septum m... OMIM:616737
Shwachman-Diamond Syndrome
Neutropenia, Pancreatic hypoplasia, Leukemia, Diabetes mellitus, Pancytopenia, Bone marrow hypoce... ORPHA:811
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypo... OMIM:602390
Hemochromatosis, Type 2B
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Hypog... OMIM:613313
Beta-Thalassemia Major
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hypersplenism, ... ORPHA:231214
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Primary gonadal insufficiency, Decreased test... ORPHA:98797
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Dystonia, Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Lethargy OMIM:277410
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, Ventricular septal defect, Elevated red cell adenosine deaminase lev... ORPHA:124
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Increased mean corpuscular volume, Thrombocyto... ORPHA:261250
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Bicuspid aortic valve, Hepatic fibr... ORPHA:84064
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Non-obstructive a... OMIM:619528
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Macrothrombocytopenia, Anemia OMIM:616176
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism OMIM:618165
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Abnormality of male internal genitalia, Male infertil... OMIM:261550
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Osteopenia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Osteoporosis... OMIM:607330
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Amenorrhea, Hepatocellular car... ORPHA:465508
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Male infertility, Azoospermia OMIM:619145
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia, Jaundice ORPHA:858
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Dystonia, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chro... OMIM:618278
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Ventricular septal def... OMIM:222470
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Ataxia-Pancytopenia Syndrome
Gait disturbance, Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, ... ORPHA:2585
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Osteopenia, Splenomegaly OMIM:269920
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Bernard-Soulier Syndrome
Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggreg... ORPHA:274
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Hepatomegaly, Splenomegaly ORPHA:139406
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Male infertility, Asplenia OMIM:618948
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Neuraminidase Deficiency
Hepatomegaly, Ascites, Epiphyseal stippling, Dysmetria, Vacuolated lymphocytes, Bone-marrow foam ... OMIM:256550
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Restrictive cardiomyopathy,... ORPHA:160
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Primary Ciliary Dyskinesia
Asplenia, Situs inversus totalis, Abnormal heart morphology, Double outlet right ventricle, Abnor... ORPHA:244
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Aromatase Deficiency
Macroorchidism, postpubertal, Type II diabetes mellitus, Osteoporosis, Ambiguous genitalia, femal... ORPHA:91
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Osteopenia, Splenomegaly, Hyperparathyroidism OMIM:618107
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Reduced bone mineral density, Splenomegaly, Cholestasi... ORPHA:172
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Total anomalous pulmonary venous return, Abnormality... ORPHA:487796
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Dense calvaria, Splenomegaly, Hyperactivity, Asymmetric septal hypert... OMIM:252920
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs, Splenomegaly ORPHA:882
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemi... OMIM:222300
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased bone mineral density ORPHA:37748
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Ataxia, Decreased serum testosterone concentration, Dec... OMIM:201100
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red c... OMIM:603903
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thromboc... ORPHA:79312
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Attention deficit hyperactivity disor... ORPHA:3000
Sandhoff Disease
Hepatomegaly, Ataxia, Splenomegaly ORPHA:796
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Lymphangioma, Splenomegaly, Calvarial hyperostosis, Fa... OMIM:176920
Dysplastic Cortical Hyperostosis
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Dystonia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute myeloid leukem... ORPHA:86839
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, M... OMIM:139090
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, ... OMIM:612840
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Kennedy Disease
Testicular atrophy, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Decreased ... ORPHA:481
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Ascites, Anemia, Splenomegaly, Hypoplasia of penis ORPHA:1046
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Craniosynostosis, Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Azoospermia ORPHA:276183
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:617441
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary ... ORPHA:79301
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splen... ORPHA:77259
Spinocerebellar Ataxia 32
Testicular atrophy, Ataxia, Infertility, Azoospermia OMIM:613909
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gla... ORPHA:417
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Jaundice, Calvarial hyperostosis, Exocrine pancre... OMIM:612714
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Splenomegaly OMIM:602271
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia OMIM:231000
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Gait ataxia OMIM:616719
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... ORPHA:98848
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Aicardi-Goutieres Syndrome 7
Dystonia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Bacterial endocarditis, Increased mean corpuscular volum... ORPHA:97214
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Ataxia, Splenomegaly ORPHA:98293
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Type I diabe... ORPHA:290
Hydatidiform Mole, Recurrent, 4
Recurrent spontaneous abortion, Female infertility OMIM:618432
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... OMIM:250790
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Acute hepatitis, Splenomegal... ORPHA:905
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism OMIM:617713
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... OMIM:612541
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Decreased circulating cortisol level OMIM:618838
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea, Diabetes m... OMIM:612526
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Anemia, Micronodular cirrhosis, Spleno... OMIM:606003
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Oligomenorrhea, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular car... ORPHA:370
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Endocardial fibroe... OMIM:212140
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune... OMIM:613011
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Gaucher Disease Type 2
Dystonia, Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Thickened cortex of long bones, Cardiomegaly, My... OMIM:253250
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... ORPHA:464329
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Jaundice ORPHA:108
Lead Poisoning
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... ORPHA:330015
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Myelofibrosis, Abnormal platelet morphology, Splenom... ORPHA:3318
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Ataxia, Impaired neutrophil bactericidal activi... OMIM:613470
Sialidosis Type 2
Hepatomegaly, Ascites, Osteoporosis, Splenomegaly, Ataxia ORPHA:87876
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, ... ORPHA:100026
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Ataxia, Extramedu... ORPHA:822
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Osteoporosis, Anem... ORPHA:264580
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Oocyte Maturation Defect 10
Female infertility, Spontaneous abortion OMIM:619176
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Abnormal heart morphology, Anemia, Male infertility, Reticulocytopenia, Hy... OMIM:227650
Mogs-Cdg
Hepatomegaly, Dystonia, Inappropriate antidiuretic hormone secretion, External genital hypoplasia... ORPHA:79330
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia, Osteolysis ORPHA:391
Gaucher Disease Type 3
Hepatomegaly, Gait disturbance, Pericardial effusion, Mitral valve calcification, Anemia, Splenom... ORPHA:77261
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Situs inversus totalis, Male infertility, Polysplenia OMIM:613807
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Dilated cardiomyopathy, Neutropenia, Abnormal heart morphology, A... ORPHA:398124
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Ataxia, Inability to walk, Hemolytic anemia, Jaundice OMIM:608885
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Fatigable weakness, Ataxia, Hepatic steatosis, Fatigable weakness of ... ORPHA:42
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Azoospermi... OMIM:602782
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... ORPHA:85451
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Niemann-Pick Disease, Type A
Athetosis, Hepatomegaly, Ascites, Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Splenome... OMIM:257200
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:230900
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Pericardial effusion, Ascites, Polycythemia, Lymphadenopa... ORPHA:2905
8P11.2 Deletion Syndrome
Hemolytic anemia, Mitral valve prolapse, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypog... ORPHA:251066
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Felty Syndrome
Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia,... ORPHA:47612
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Red... ORPHA:1414
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Thrombocytopenia, Macrothrombocytopenia OMIM:603585
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Lethargy OMIM:619064
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... ORPHA:93476
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Diabete... OMIM:271500
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Lethargy OMIM:600649
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Ataxia, Cardiomyopathy, Splenomegaly OMIM:619046
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Steppage gait, Cardiomegaly, Inability to walk, Abnormal a... ORPHA:324410
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:618892
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... ORPHA:615
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Dense calvaria, Splenomegaly, Hyperactivity, Asymmetric septal hypertrophy OMIM:252900
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... ORPHA:288
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Reduced bone mineral densit... ORPHA:90796
Cinca Syndrome
Leukocytosis, Hepatomegaly, Abnormality of thrombocytes, Lymphadenopathy, Anemia, Abnormal granul... ORPHA:1451
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, In... OMIM:259700
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia, Cryptorchidism ORPHA:98791
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea,... ORPHA:79083
Griscelli Syndrome
Hepatomegaly, Leukopenia, Ascites, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia... OMIM:278000
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of the lymph nodes, Hypogonadism... ORPHA:85450
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Adren... ORPHA:75233
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Intermittent thrombocyto... OMIM:150550
Mevalonic Aciduria
Ataxia, Splenomegaly ORPHA:29
Triosephosphate Isomerase Deficiency
Dystonia, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic... OMIM:615512
47,Xyy Syndrome
Oligospermia, Hypospadias, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ascites, Anemia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Akinesia, Thromboc... OMIM:608013
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Oligomenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Osteoporo... ORPHA:79240
Free Sialic Acid Storage Disease
Athetosis, Hepatomegaly, Gait disturbance, Ascites, Reduced bone mineral density, Splenomegaly, A... ORPHA:834
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... ORPHA:860
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Cardiomegaly, Cardiomyopathy, Impotence OMIM:105210
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepatosplenomegaly, Prolonged n... OMIM:616828
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Farber Lipogranulomatosis
Hepatomegaly, Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolyti... OMIM:228000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia OMIM:616050
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Rickets, Cholelithiasis, Osteopenia, Splenomegaly, Cirrhosis, Intrahepatic cholesta... OMIM:211600
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Abnormal heart morphology, Intrahepatic biliary dysgenesis, S... OMIM:614866
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Ascites, Cardiomegaly, Osteo... OMIM:616897
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Osteopetrosis, Anemia, Decreased osteoclast count, Splenomegaly, Extramedu... OMIM:259720
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Osteoporosis, Cardiomegaly, Congenital hypertrophy o... OMIM:239850
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypothyroidism, Patent foramen ovale OMIM:601005
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Sandhoff Disease
Hepatomegaly, Cardiomegaly, Ataxia, Hepatosplenomegaly, Impotence OMIM:268800
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell c... OMIM:609981
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Truncal ataxia, Limb ataxia OMIM:619051
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Hepatomegaly, Neutropenia, Anemia, Persistence of he... OMIM:260400
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries... ORPHA:2348
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta OMIM:617022
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Adrenal calcification, Jaundice ORPHA:75234
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Goiter, Neutropenia in presence of anti-neutropil a... ORPHA:525731
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Decreased skull ossification OMIM:601163
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia, Aortic valve s... OMIM:230800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Gait disturbance, Increased hepatic glycogen content, Cardiomegaly, Cardiomyopathy, Ataxia, Trunc... OMIM:619259
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Ventricular septal defect, Hypochromic microcyti... OMIM:301040
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Myelofibrosis, Bone marrow hypocellularity, Splenomegaly, Acute my... ORPHA:86843
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy... OMIM:115197
Chediak-Higashi Syndrome
Hepatomegaly, Gait disturbance, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules... OMIM:214500
Immunodeficiency 32B
Splenomegaly OMIM:226990
Abetalipoproteinemia
Hepatomegaly, Hepatic fibrosis, Acanthocytosis, Dysmetria, Steppage gait, Anemia, Cardiomegaly, O... ORPHA:14
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Hepatic steatos... OMIM:201475
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Abdominal situs inversus, Asplenia, Mitral atresia, Doub... OMIM:306955
Greenberg Dysplasia
Costal cartilage calcification, Hepatomegaly, Absent or minimally ossified vertebral bodies, Hepa... OMIM:215140
Myopathy With Extrapyramidal Signs
Dystonia, Leukocytosis, Hepatomegaly, Ventricular septal defect, Splenomegaly, Hyperactivity, Ata... OMIM:615673
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Dense calvaria, Splenomegaly, Hyperactivity, Asymmetric septal hypertrophy OMIM:252930
Ciliary Dyskinesia, Primary, 9
Situs inversus totalis, Male infertility OMIM:612444
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... ORPHA:158061
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Whipple Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Anemia, Erectile dysfunctio... ORPHA:3452
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... ORPHA:90970
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycy... OMIM:269700
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Crypt... OMIM:141750
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis, Pericardial effusion OMIM:260900
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Sp... ORPHA:829
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... OMIM:308230
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Hsd10 Disease, Infantile Type
Loss of ability to walk, Dystonia, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Ciliary Dyskinesia, Primary, 18
Situs inversus totalis, Male infertility, Immotile sperm OMIM:614874
Refsum Disease, Classic
Ataxia, Cardiomegaly, Cardiomyopathy OMIM:266500
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... OMIM:251880
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Lymph... OMIM:618935
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellu... OMIM:617303
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Majeed Syndrome
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... ORPHA:77297
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Dystonia, Diabetes insipidus, Cardiomyopathy, Splenomegaly, Inability to walk, Hypo... OMIM:225750
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Leukopenia, Lymphadenopathy... ORPHA:809
Typhoid
Lethargy, Hepatomegaly, Ataxia, Splenomegaly ORPHA:99745
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Osteoporosis, Cardiomegal... ORPHA:363705
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis, Abdominal situs inversus, Male infertility OMIM:619607
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Gait disturbance, Dystonia, Polycythemia, Micronodular... ORPHA:309854
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Lesch-Nyhan Syndrome
Testicular atrophy, Dystonia, Megaloblastic anemia OMIM:300322
Fucosidosis
Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly OMIM:230000
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Mucopolysaccharidosis Type 3
Hepatomegaly, Gait disturbance, Abnormal mitral valve morphology, Loss of ambulation, Abnormal ao... ORPHA:581
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Ataxia, Hepatosplenomegaly, Panc... OMIM:603553
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity,... ORPHA:549
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Cardiomyopathy, Sideroblastic a... OMIM:616084
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Anemia, Abnormal hemoglobin, Ambiguous genitalia, Cryptorchidi... ORPHA:847
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hematocrit, Increased ... OMIM:611783
Lipodystrophy, Congenital Generalized, Type 1