Gene: Skil MGI:106203

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Gene Summary

Name:
SKI-like
Synonyms:
SnoN,  Skir,  sno-dE3,  SnoN2,  9130011J04Rik

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
increased heart left ventricle size Skiltm1b(EUCOMM)Hmgu HOM Early adult 2.23×10-06

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Viewing: all phenotypes

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

13 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Human diseases caused by Skil 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 Skil by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Diencephalic Syndrome
Decreased body weight, Cachexia, Neoplasm of the nervous system ORPHA:1672
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Pulmonary Blastoma
Weight loss, Pleuropulmonary blastoma ORPHA:64741
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Cirrhosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Weight loss, Sarcoma, Neoplasm of the l... ORPHA:83469
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Mantle Cell Lymphoma
Weight loss, B-cell lymphoma ORPHA:52416
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Ly... OMIM:618495
Apolipoprotein A-I Deficiency
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:425
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Immunodeficiency 47
Cirrhosis, Decreased circulating antibody level, Hepatic steatosis, Hepatomegaly, Prolonged neona... OMIM:300972
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Carcinoma Of Esophagus
Esophageal neoplasm, Barrett esophagus, Weight loss, Obesity ORPHA:70482
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, ... ORPHA:100024
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... OMIM:300853
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Moynahan Syndrome
Cachexia ORPHA:2574
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody lev... OMIM:617514
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Decrea... ORPHA:2585
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Hypohidrosis, Breast hypoplasia OMIM:129550
Tuberculosis
Weight loss ORPHA:3389
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Follicular hy... OMIM:240500
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Breast carcinoma, Weight loss, Lymphoma ORPHA:86893
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Neuroendocrine neoplasm, Neoplasm of the larynx, Weight loss ORPHA:100083
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Neoplasm, Stomach cancer, Intestinal polyposis, Cachexia, Hamartomato... ORPHA:2930
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Increased circulati... OMIM:209950
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Lymphoproliferative Syndrome 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Decreased lym... OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Macrocephaly/Autism Syndrome
Hepatomegaly, Decreased circulating antibody level, Lymphopenia, Splenomegaly OMIM:605309
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Decreased circulating antibody level, Pancytopenia, Hepatomegaly, Hepatitis, Ap... OMIM:300635
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Hyposegmentation of neut... ORPHA:75564
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Medullary Thyroid Carcinoma
Pheochromocytoma, Weight loss, Neoplasm of the skeletal system, Primary hyperparathyroidism, Neop... ORPHA:1332
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Christianson Syndrome
Cachexia ORPHA:85278
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Hodgkin Lymphoma
Neoplasm, Weight loss, Lymphoma ORPHA:98293
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Xfe Progeroid Syndrome
Cachexia OMIM:610965
Renpenning Syndrome
Decreased testicular size, Cachexia ORPHA:3242
Nephroblastoma
Weight loss, Neoplasm of the liver, Neoplasm, Nephroblastoma, Neoplasm of the lung ORPHA:654
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, D... OMIM:613011
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Idiopathic Achalasia
Weight loss ORPHA:930
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Aredyld Syndrome
Refractory anemia with ringed sideroblasts, Cachexia ORPHA:1133
Immunodeficiency 36
Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Neoplasm of the breast, Weight loss, Neoplasm of the respiratory system, Neoplasm ORPHA:2221
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Pancytopenia, Thrombocytope... ORPHA:507
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Weight loss, Neoplasm of the liver, Sarcoma ORPHA:69077
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Gr... OMIM:618935
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Weight loss ORPHA:2198
Primary Myelofibrosis
Hematological neoplasm, Hemangioma, Cachexia ORPHA:824
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Tetrasomy 12P
Cachexia ORPHA:884
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Hepatomegaly, Splenomegaly OMIM:615846
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hamartomatous polyposis, Cachexia, Gastrointestinal carcinoma OMIM:175500
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Thrombocytopenia, Jaundice, Hep... ORPHA:381
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Hirschsprung Disease
Neoplasm of the thyroid gland, Intestinal polyposis, Weight loss, Failure to thrive in infancy ORPHA:388
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Huntington Disease-Like 2
Weight loss ORPHA:98934
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Chronic Hiccup
Weight loss ORPHA:396
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Cachexia, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Bannayan-Riley-Ruvalcaba Syndrome
Meningioma, Neoplasm of the breast, Lymphoma, Neoplasm, Uterine neoplasm, Thyroid carcinoma, Inte... ORPHA:109
Peritoneal Cystic Mesothelioma
Neoplasm, Weight loss ORPHA:168816
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Isaac Syndrome
Weight loss ORPHA:84142
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Supernumerary nipple, Cachexia, Failure to thrive ORPHA:217346
Immunodeficiency 32B
Splenomegaly OMIM:226990
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Omenn Syndrome
Severe B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Thrombocytopenia, Hepatomega... OMIM:603554
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Cutaneous anergy, Abse... OMIM:600802
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Malignant Peritoneal Mesothelioma
Neoplasm, Weight loss ORPHA:168811
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, Carcinoid tumor, Neoplasm of the thymu... ORPHA:97289
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Splenomega... OMIM:616278
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Sézary Syndrome
Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Lympha... ORPHA:3162
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Wolman Disease
Cachexia ORPHA:75233
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Familial Colorectal Cancer Type X
Basal cell carcinoma, Benign neoplasm of the central nervous system, Neuroblastoma, Neoplasm of t... ORPHA:440437
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly OMIM:201100
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Erythrokeratodermia Variabilis
Neoplasm of the skin, Weight loss, Abnormal testis morphology ORPHA:317
Solitary Fibrous Tumor/Hemangiopericytoma
Prostate cancer, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the liver, Uterine neoplasm,... ORPHA:2126
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Weight loss ORPHA:97286
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Cervical lymphadenopathy, Lym... ORPHA:2442
Silver-Russell Syndrome
Cryptorchidism, Failure to thrive in infancy, Cachexia, Decreased testicular size, Obesity ORPHA:813
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly, Reduced ... OMIM:616050
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Inflammatory Pseudotumor Of The Liver
Weight loss, Neoplasm of the liver ORPHA:90003
Nijmegen Breakage Syndrome
Glioma, B-cell lymphoma, Neoplasm, T-cell lymphoma, Lymphoma, Cachexia, Rhabdomyosarcoma, Acute l... ORPHA:647
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Weight loss, Malignant neoplasm of the central nervous syst... ORPHA:142
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Kaposi Sarcoma
Lymphoproliferative disorder, Hemangioma, Neoplasm by anatomical site, Weight loss, Neoplasm of t... ORPHA:33276
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Cap Polyposis
Colorectal polyposis, Weight loss ORPHA:160148
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Cachexia, Obesity ORPHA:85293
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Huntington Disease-Like 2
Weight loss OMIM:606438
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:256550
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Increased circulating IgG level, Sp... OMIM:617388
Rett Syndrome
Cachexia OMIM:312750
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Mevalonic Aciduria
Splenomegaly ORPHA:29
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Cholelithiasis, Weight loss ORPHA:65682
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Neuroblastoma, Susceptibility To, 1
Ganglioneuroma, Neuroblastoma, Weight loss, Ganglioneuroblastoma, Failure to thrive OMIM:256700
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Whipple Disease
Cachexia ORPHA:3452
Familial Pancreatic Carcinoma
Neoplasm of the liver, Weight loss, Melanoma, Breast carcinoma, Ovarian carcinoma, Pancreatic ade... ORPHA:1333
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Decreased circulating antibody level, Neutropenia, Thrombocytopenia, Jaundice, ... ORPHA:540
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Focal Myositis
Weight loss ORPHA:48918
Glycogen Storage Disease Ixc
Hepatomegaly, Bile duct proliferation, Cirrhosis, Splenomegaly OMIM:613027
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Graves Disease, Susceptibility To, 1
Goiter, Weight loss OMIM:275000
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:233710
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Decreased specific anti-polysaccharid... ORPHA:3261
Gaucher Disease Type 1
Cirrhosis, Increased circulating antibody level, Biliary tract obstruction, Pancytopenia, Thrombo... ORPHA:77259
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Viral hepatitis, Increased circulating antibody level, Hepatocellular... ORPHA:2137
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, T... ORPHA:98849
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Juvenile Polyposis Of Infancy
Hemangioma, Subcutaneous lipoma, Hemangioblastoma, Adenomatous colonic polyposis, Cachexia, Hamar... ORPHA:79076
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Spleno... OMIM:617591
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Spinal cord tumor, Weight loss, Uterine neoplasm, Brain neoplasm, Neoplasm of t... ORPHA:370348
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Increased circulating IgA level, Splenomegaly, Neutrophilia, Hepatos... OMIM:260920
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Weight loss OMIM:613239
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:233690
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Grfoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97261
Klatskin Tumor
Weight loss, Cholangiocarcinoma ORPHA:99978
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Weight loss ORPHA:514
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:290
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:619183
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss OMIM:188580
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Decreased body weight, Cachexia, Testicular torsion, Decreased testicular size ORPHA:800
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Chronic myelogenous leukemia, Weight loss ORPHA:71493
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Juvenile Huntington Disease
Weight loss ORPHA:248111
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613489
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Decreased specific anti-polysaccharide antibody level, Cholestasis, Pancytopenia, Impa... OMIM:614576
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Proteus Syndrome
Neoplasm of the central nervous system, Ovarian neoplasm, Hamartoma, Thymus hyperplasia, Enlarged... ORPHA:744
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomegal... OMIM:603553
Hereditary Orotic Aciduria
Impaired T cell function, Anemia, Splenomegaly ORPHA:30
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Trisomy 18
Cryptorchidism, Cachexia ORPHA:3380
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Hemochromatosis, Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:235200
Prolidase Deficiency
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice... OMIM:170100
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Ppoma
Intestinal carcinoid, Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth ho... ORPHA:97278
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Non-Functioning Paraganglioma
Paraganglioma, Paraganglioma of head and neck, Weight loss ORPHA:94080
Perry Syndrome
Weight loss ORPHA:178509
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Reduced natural killer ... OMIM:608233
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Pleural Mesothelioma
Weight loss ORPHA:50251
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:2785
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
X-Linked Agammaglobulinemia
Neoplasm, Failure to thrive, Weight loss ORPHA:47
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Parathyroid hyperplasia, Hyperparathyroidism, Adrenocortic... ORPHA:913
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, Lymphopenia,... ORPHA:1572
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Vulvar neoplasm, Tracheobronchial leiomyomatosis, Fibroma, Esophageal neoplasm, Weight loss, Uter... ORPHA:1018
Parathyroid Carcinoma
Parathyroid carcinoma, Fibroma, Uterine leiomyoma, Weight loss, Abnormality of the parathyroid mo... ORPHA:143
Seckel Syndrome
Cachexia ORPHA:808
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss, Paraganglioma, Paragangliom... ORPHA:276621
Vipoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, G... ORPHA:97282
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Enlarged kidney, Macrovesicular hepatic steatosis, Neutropenia, ... OMIM:617303
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Decreased circulating antibody level, Sideroblastic anemia, B lymp... OMIM:616084
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Hepatomegaly, Splenomegaly OMIM:615630
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Legionnaires Disease
Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellularity, Lympha... ORPHA:549
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonatal j... OMIM:257220
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Splenomegaly OMIM:608799
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Insulinoma, Pituit... ORPHA:652
Ménétrier Disease
Multiple gastric polyps, Stomach cancer, Weight loss ORPHA:2494
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Hypersplenism OMIM:230800
Aggressive Systemic Mastocytosis
Hematological neoplasm, Leukemia, Weight loss ORPHA:98850
Microsporidiosis
Abnormality of the parathyroid gland, Cachexia, Weight loss ORPHA:2552
Osteosarcoma
Weight loss ORPHA:668
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly OMIM:619046
Somatostatinoma
Subcutaneous lipoma, Adrenocortical adenoma, Elevated circulating growth hormone concentration, I... ORPHA:97283
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Bullous Pemphigoid
Weight loss ORPHA:703
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Hepatomegaly, Splenomegaly OMIM:612852
Pneumocystosis
Neoplasm, Weight loss ORPHA:723
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonatal j... OMIM:607625
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Extraadrenal pheochromocytoma, Retinal capillary hemangioma, Adrenal p... ORPHA:29072
Polycythemia Vera
Myelodysplasia, Acute leukemia, Weight loss ORPHA:729
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Mastocytosis
Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Pancytopenia, He... OMIM:615688
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Small for gestational age, Weight loss ORPHA:424
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Q Fever
Increased circulating antibody level, Cholecystitis, Granuloma, Thrombocytopenia, Hepatomegaly, H... ORPHA:781
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Carcinoid tumor, Neoplasm of the liver, Weight loss, Neoplasm of the eye... ORPHA:100085
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:612387
Glossopharyngeal Neuralgia
Neoplasm, Weight loss, Schwannoma ORPHA:221098
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morpholo... ORPHA:464329
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Weight loss, Neoplasm of the nervous system ORPHA:100086
Adrenocortical Carcinoma
Weight loss, Adrenocorticotropic hormone deficiency, Increased body weight, Adrenocortical carcin... ORPHA:1501
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Decreased circulating IgA level, Hypersplenism, Splenomega... OMIM:613385
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Anemia, Lym... OMIM:267700
Systemic Capillary Leak Syndrome
Multiple myeloma, Weight loss ORPHA:188
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Huntington Disease-Like 1
Weight loss ORPHA:157941
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly OMIM:251290
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Splenomegaly, Leukemia, Monoclonal i... ORPHA:33226
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:809
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Cockayne Syndrome
Cryptorchidism, Cachexia ORPHA:191
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Decreased circulating IgA level, Anemia, Splenomegaly, Decreased circulating total ... OMIM:612301
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Weight loss, Failure to thrive in infancy ORPHA:171876
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Hepatosplenomegaly OMIM:225750
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:92
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:2348
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Decreased circulating antibody level, Vacuolated lymphocytes, Splenomegaly OMIM:248500
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Takayasu Arteritis
Weight loss ORPHA:3287
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Weight loss, Atypical pulmonary carcinoid tumor ORPHA:100080
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Splenomegaly, Anemia, Incr... ORPHA:29073
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Coach Syndrome 1
Cirrhosis, Abnormal abdomen morphology, Hepatic fibrosis, Hepatomegaly, Intrahepatic bile duct di... OMIM:216360
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormal platelet function, Vacuolate... ORPHA:167
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly ORPHA:36412
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly OMIM:614866
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:575
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Marburg Hemorrhagic Fever
Weight loss ORPHA:99826
Chronic Beryllium Disease
Weight loss ORPHA:133
Pemphigus Vulgaris
Weight loss ORPHA:704
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Primary Intestinal Lymphangiectasia
Failure to thrive, Verrucae, Weight loss, B-cell lymphoma ORPHA:90362
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Refractory Celiac Disease
Weight loss, Lymphoma ORPHA:398063
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Cholelithiasis ORPHA:2072
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hepatomegaly, Thyroid lymphangiectasia, Ascites, Pulmonary lymphangi... OMIM:235255
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Cholestasis, Hepa... ORPHA:370
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Cardiomegaly, Cholangiocarcinoma, Splenomegaly... ORPHA:465508
Pycnodysostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Pediatric-Onset Graves Disease
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Jaundice, Hepatomegaly, S... ORPHA:525731
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly OMIM:252930
Polymyositis