Gene Summary

Name:
collagen, type IX, alpha 3
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Col9a3em1(IMPC)Tcp HOM Early adult 0.00
enlarged lymph nodes Col9a3em1(IMPC)Tcp HOM Early adult 0.00
abnormal auditory brainstem response Col9a3em1(IMPC)Tcp HOM   Early adult 9.96×10-09
decreased prepulse inhibition Col9a3em1(IMPC)Tcp HOM Early adult 8.96×10-06
abnormal seminal vesicle morphology Col9a3em1(IMPC)Tcp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

Images Ophthalmoscopy

98 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

Human diseases caused by Col9a3 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 Col9a3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Stickler Syndrome
Sensorineural hearing impairment ORPHA:250984
Epiphyseal Dysplasia, Multiple, 3
OMIM:600969
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
ORPHA:166002

The table below shows human diseases predicted to be associated to Col9a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Sensorineural hearing impairment, Anemia, Splenomegaly ORPHA:294
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Apolipoprotein A-I Deficiency
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly ORPHA:425
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Mast Cell Sarcoma
Hypoplasia of the ear cartilage, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocy... ORPHA:66661
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
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Galactosemia Iii
Hepatomegaly, Jaundice, Sensorineural hearing impairment, Splenomegaly OMIM:230350
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Sensorineural hearing im... OMIM:300972
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Sandhoff Disease
Hepatomegaly, Hearing impairment, Splenomegaly ORPHA:796
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Low-frequency sensorineural hearing impairment, Thrombocytopenia, Anemia, Splen... OMIM:613101
Combined Saposin Deficiency
Hepatomegaly, Optic atrophy, Splenomegaly OMIM:611721
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Genital ulcers OMIM:602450
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Facial palsy, Anemia, Splenomegaly, Optic atrophy OMIM:615085
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Facial palsy, Anemia, Splenomegaly, Optic atroph... OMIM:611490
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Hepatomegaly, Sensorineural hearing impairment, Splenomegaly,... ORPHA:93476
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Splenomegaly OMIM:608540
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the lymph nodes, Decreased proportion of CD4-positive he... ORPHA:543
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Sensorineural hearing impairment, Lymphadenopathy, Splenomegaly OMIM:611762
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Splenomegaly OMIM:602271
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Ascites, Aplastic anemia, Splenomegaly, Hepatosplen... OMIM:615122
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
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
Immunodeficiency 32B
Splenomegaly OMIM:226990
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Pancyt... ORPHA:2585
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Omenn Syndrome
Severe B lymphocytopenia, Hypoplasia of the thymus, Thrombocytopenia, Hepatomegaly, Eosinophilia,... OMIM:603554
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Splenomegaly... OMIM:609981
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Splenomega... OMIM:616278
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Hypogonadism, Splenomegaly OMIM:201100
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Mevalonic Aciduria
Low-set, posteriorly rotated ears, Splenomegaly ORPHA:29
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Pseudopa... ORPHA:1451
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Liver abscess, Abnormality of the pancreas, Anemia, Neutrophilia, Abn... ORPHA:54251
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Ascites, Card... OMIM:235200
Sialidosis Type 2
Hepatomegaly, Hearing impairment, Ascites, Splenomegaly ORPHA:87876
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Lymph node hypoplasia, Enteroviral hepatitis, Hearing impairment OMIM:300755
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnor... ORPHA:276
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Leuko... ORPHA:507
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Optic atrophy ORPHA:79312
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Glycogen Storage Disease Ixc
Hepatomegaly, Bile duct proliferation, Cirrhosis, Splenomegaly OMIM:613027
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Sensorineural hearing impairment, A... OMIM:256550
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Sensorineural hearing impairment, Anemia, Splenomegaly ORPHA:290
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Scheie Syndrome
Hepatomegaly, Abnormal nerve conduction velocity, Sensorineural hearing impairment, Splenomegaly ORPHA:93474
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Ab... ORPHA:85212
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:619183
Alpha-Mannosidosis
Macrotia, Hepatomegaly, Hearing impairment, Abnormality of the helix, Splenomegaly ORPHA:61
Cockayne Syndrome A
Cryptorchidism, Thymic hormone decreased, Decreased nerve conduction velocity, Abnormality of the... OMIM:216400
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Absent brainstem auditory responses, Vestibular ... ORPHA:3240
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Cryptorchidism, Hypoplasia of the semicircular canal, Long-segment aganglionic megacolon, Abnorma... OMIM:609136
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditor... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Sensorineural hearing impairment, Hemolytic anemia, Abnormal auditor... ORPHA:529799
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy ORPHA:2785
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Optic atrophy, EEG abnormality, Splenomegaly OMIM:608799
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Enlarged tonsils, Neutropenia, Thrombocytope... OMIM:308230
Cockayne Syndrome Type 1
Cryptorchidism, Male hypogonadism, Macrotia, Hepatomegaly, Hearing impairment, Absent brainstem a... ORPHA:90321
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hearing impairment, Splenomegaly OMIM:252900
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Optic nerve dysplasia, A... OMIM:614866
Roifman Syndrome
Hepatomegaly, Eosinophilia, Lymphadenopathy, Splenomegaly OMIM:616651
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hearing impairment, Cardiomegaly, Splenomegaly OMIM:252920
Tangier Disease
Hepatomegaly, Facial diplegia, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Splenomegaly ORPHA:3386
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Sensorineural hearing impairment, Splenomegaly OMIM:619046
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Facial palsy, Hepatomegaly, Splenomegaly OMIM:612387
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613489
Sialidosis Type 1
Decreased nerve conduction velocity, Sensorineural hearing impairment, EEG abnormality, Splenomegaly ORPHA:812
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Cockayne Syndrome B
Cryptorchidism, Decreased nerve conduction velocity, Abnormality of the pinna, Hepatomegaly, Sens... OMIM:133540
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Decreased nerve conduction velocity, Impaired neutroph... OMIM:214500
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Osteopetrosis, Autosomal Recessive 1
Facial paralysis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Hearing impairment, Facial palsy,... OMIM:259700
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Hepatomegaly, Abnormal fa... ORPHA:1655
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimuation test... OMIM:602782
Multiple Sulfatase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Splenomegaly, Abnormality of peripheral nerve con... ORPHA:585
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:618641
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Hepatomegaly, Thyroid lymphangiectasia, Ascites, Pul... OMIM:235255
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:169090
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Sensorineural hearing im... ORPHA:540
Zimmermann-Laband Syndrome
Hepatomegaly, Sensorineural hearing impairment, Splenomegaly, Thickened ears, Large fleshy ears, ... ORPHA:3473
Muckle-Wells Syndrome
Progressive sensorineural hearing impairment, Hepatomegaly, Anemia, Splenomegaly, Optic atrophy ORPHA:575
Aredyld Syndrome
Hepatomegaly, Low-set, posteriorly rotated ears, Abnormality of the tragus, Splenomegaly ORPHA:1133
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Hermansky-Pudlak Syndrome 10
Macrotia, Neutropenia, Hepatomegaly, EEG abnormality, Splenomegaly OMIM:617050
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Trisomy 10P
Low voltage EEG, Absent gallbladder, Macrotia, EEG with burst suppression, Posteriorly rotated ea... ORPHA:171929
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Hepatomegaly, Splenomegaly OMIM:615630
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:2348
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morpholo... ORPHA:464329
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Sensorineural hearing impairment, Ascites, Splenomegaly, Lymphadenopathy ORPHA:36412
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Hearing impairment, Splenomegaly OMIM:618440
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly, Cholangiocar... ORPHA:465508
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Hardikar Syndrome
Hepatomegaly, Jaundice, Cholangitis, Vaginal atresia, Hearing impairment, Splenomegaly, Portal hy... OMIM:612726
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hearing impairment, Splenomegaly OMIM:252930
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Hypersplenism OMIM:230800
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233710
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Sialuria
Hepatomegaly, Hypoplastic nipples, Splenomegaly OMIM:269921
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly ORPHA:90970
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Optic atrophy OMIM:614576
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:92
Hyper-Igd Syndrome
Lymphadenitis, Leukocytosis, Optic disc pallor, Splenomegaly, Neutrophilia, Hepatosplenomegaly, L... OMIM:260920
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
8P11.2 Deletion Syndrome
Cryptorchidism, Hemolytic anemia, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Hypog... ORPHA:251066
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Viral hepatitis, Hepatocellular carcinoma, Sclerosing cholangitis, Ja... ORPHA:2137
Coach Syndrome 1
Cirrhosis, Abnormal abdomen morphology, Hepatic fibrosis, Hepatomegaly, Intrahepatic bile duct di... OMIM:216360
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Cholestasis, Hepa... ORPHA:370
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Hearing impairment, Splenomegaly OMIM:252940
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Cholelithiasis, Prolonged neonatal jaundice, Abnormal auditory ... ORPHA:909
Legionnaires Disease
Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellularity, Lympha... ORPHA:549
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Liver abscess, Lymphadenopat... OMIM:233690
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy OMIM:617591
Pseudo-Torch Syndrome 1
Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly OMIM:251290
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Hepatomegaly, Multifocal epileptiform discharges, ... ORPHA:33226
Prolidase Deficiency
Thrombocytopenia, Prolonged neonatal jaundice, Hepatomegaly, Anemia, Splenomegaly OMIM:170100
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Cholestasis, Hepatic fibrosis, Hepatomegaly... ORPHA:264580
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Leukopenia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:809
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Jaundice, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomegal... OMIM:603553
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia, Hepatic fibrosis, Jaundice, He... ORPHA:567983
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Hepatosplenomegaly OMIM:225750
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Macrovesicular hepatic steatosis, Neutropenia, Thrombocytopenia, Hepatomegaly, L... OMIM:617303
Glycogen Storage Disease Ii
Hepatomegaly, Hearing impairment, Cardiomegaly, Splenomegaly OMIM:232300
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, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Lymphatic Malformation 6
Hydrocele testis, Abnormality of the pinna, Cupped ear, Hearing impairment, Ascites, Splenomegaly... OMIM:616843
Refsum Disease
Sensorineural hearing impairment, Splenomegaly ORPHA:773
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonatal j... OMIM:257220
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Leukopenia, Anemia, Lym... OMIM:267700
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Ascites, Hepatosplenomegaly, ... OMIM:608013
Polycythemia Vera
Hepatomegaly, Splenomegaly, Portal hypertension, Acute leukemia, Tinnitus ORPHA:729
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Posteriorly rotated ears, Hypersplenism, Splenomegaly, Por... OMIM:613385
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Pediatric-Onset Graves Disease
Goiter, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Jaundice, Hepatom... ORPHA:525731
Hermansky-Pudlak Syndrome 2
Neutropenia, Thrombocytopenia, Hepatomegaly, Reduced natural killer cell count, Posteriorly rotat... OMIM:608233
Isolated Biliary Atresia
Cirrhosis, Atretic gallbladder, Periportal fibrosis, Hypopituitarism, Cholestasis, Hepatomegaly, ... ORPHA:30391
Fucosidosis
Vacuolated lymphocytes, Hepatomegaly, Hearing impairment, Cardiomegaly, Splenomegaly OMIM:230000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, Sideroblastic anemia, Sensorineural hearing impairment, B lymphocy... OMIM:616084
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Pycnodysostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Splenomegaly ORPHA:2969
Hurler Syndrome
Enlarged tonsils, Hepatomegaly, Hearing impairment, Splenomegaly, Hepatosplenomegaly OMIM:607014
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonatal j... OMIM:607625
Mucopolysaccharidosis Type 6
Hearing impairment, Splenomegaly ORPHA:583
Multiple Sulfatase Deficiency
Hepatomegaly, Hearing impairment, Splenomegaly OMIM:272200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Hepatomegaly, Leukopenia, Splenomegaly, ... OMIM:615688
Gm1 Gangliosidosis
Abnormality of the scrotum, Macrotia, Optic atrophy, Splenomegaly, Hepatosplenomegaly ORPHA:354
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Anemia, Splenomegaly ORPHA:30
Biotinidase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Splenomegaly OMIM:253260
Mend Syndrome
Cryptorchidism, Abnormal auditory evoked potentials ORPHA:401973
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Hepatomegaly, Splenom... ORPHA:77297
Gaucher Disease, Type Iiic
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Trichohepatoneurodevelopmental Syndrome
Abnormality of the pinna, Cholelithiasis, Hepatomegaly, Hypoplastic nipples, EEG abnormality, Spl... OMIM:618268
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Hearing impairment, Papilledema, Splenomegaly OMIM:309900
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Macrotia, Hepatomegaly, Sensorineural hearing impairment, Splenomegaly OMIM:248500
Kagami-Ogata Syndrome
Hepatomegaly, Microtia, Splenomegaly OMIM:608149
Whipple Disease
Mediastinal lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly ORPHA:3452
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Opsismodysplasia
Hepatomegaly, Splenomegaly ORPHA:2746
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Primary hyperparathyroidism, Anemia, Splenomegaly OMIM:239200
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Abnormality of the live... ORPHA:1572
Prolidase Deficiency
Hepatomegaly, Hearing impairment, Splenomegaly ORPHA:742
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Hearing impairment, Splenomegaly OMIM:253220
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Cirrhosis, Abnormal testis morphology, Abnormal... ORPHA:1775
Congenital Disorder Of Glycosylation, Type Iie
Abnormality of the pinna, Hepatomegaly, Jaundice, Hearing impairment, Splenomegaly OMIM:608779
Mastocytosis
Chronic leukemia, Hepatomegaly, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Gm1-Gangliosidosis, Type I
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly OMIM:230500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly ORPHA:3035
Q Fever
Cholecystitis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegaly, Hepatosplenomegal... ORPHA:781
Mucopolysaccharidosis Type 7
Hepatitis, Ascites, Splenomegaly ORPHA:584
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Hepatomegaly, Splenomegaly OMIM:612852
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Macrotia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Polycystic ovaries, Spl... OMIM:608594
Kikuchi-Fujimoto Disease
Lymphocytosis, Generalized lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomegaly, Enlargem... ORPHA:50918
Primary Sclerosing Cholangitis
Cirrhosis, Neoplasm of the gallbladder, Hepatocellular carcinoma, Cholelithiasis, Cholestasis, He... ORPHA:171
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Thrombo... ORPHA:731
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Hearing impairment, Splenomegaly OMIM:253200
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Fatigable weakness of swallowing muscles, Thickened helices, Abnormality o... ORPHA:581
Mucopolysaccharidosis Type 1
Hearing impairment, Sensorineural hearing impairment, Optic atrophy, Splenomegaly, Abnormality of... ORPHA:579
D-Bifunctional Protein Deficiency
Hepatic steatosis, Decreased nerve conduction velocity, Fetal ascites, Cholestasis, Hepatomegaly,... OMIM:261515
Desmosterolosis
Ambiguous genitalia, Low-set, posteriorly rotated ears, Splenomegaly, Abnormality of earlobe, Lar... ORPHA:35107
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Macrotia, Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Polycystic ovaries, Spl... OMIM:269700
Zimmermann-Laband Syndrome 1
Long penis, Hepatomegaly, Posteriorly rotated ears, Hearing impairment, Splenomegaly OMIM:135500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:280365
Hurler Syndrome
Abnormal nerve conduction velocity, Hepatomegaly, Hearing impairment, Splenomegaly, Abnormality o... ORPHA:93473
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly OMIM:612918
Familial Mediterranean Fever
Peritonitis, Leukocytosis, Orchitis, Hepatomegaly, Splenomegaly, Neutrophilia OMIM:249100
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly ORPHA:90051
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly ORPHA:53715
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Generalized lymphadenopathy, Thrombocytopenia, Chronic hepatitis, C... ORPHA:3260
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Hepatomegaly, Sensorineural hearing impairment, Splenomegaly, Hypogonadism ORPHA:163746
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:613327
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoparathyroidism, Reticulocytosis, Hepatic steatosis, Macron... ORPHA:699
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Meckel Syndrome, Type 1
Cryptorchidism, Abnormality of the uterus, Accessory spleen, Ambiguous genitalia, male, Malformat... OMIM:249000
Familial Mediterranean Fever
Peritonitis, Orchitis, Ascites, Pancreatitis, Splenomegaly, Lymphadenopathy ORPHA:342
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Periportal fibrosis, Abnormality of the pinna, Hepatomegaly, Hypoplastic nip... OMIM:269860
Cardiofaciocutaneous Syndrome 1
Posteriorly rotated ears, Hearing impairment, Optic nerve dysplasia, Splenomegaly, Anterior creas... OMIM:115150
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Generalized lymphadenopathy, Abnormal salivary gland morphology, Hepato... OMIM:181000
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Optic nerve compression, Anemia, Splenomegaly, Optic atrophy OMIM:612301
Brucellosis
Epididymitis, Thrombocytosis, Leukocytosis, Orchitis, Thrombocytopenia, Hepatomegaly, Abnormality... ORPHA:1304
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus,... ORPHA:84064
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T... ORPHA:37042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Leukocytosis, Orchitis, Splenomegaly, Lymphadenopathy ORPHA:32960
Hennekam Syndrome
Conductive hearing impairment, Lymphopenia, Ascites, Pulmonary lymphangiectasia, Splenomegaly, Ly... ORPHA:2136
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Hepatocellular carcinoma, Hepatomegaly, Ascites, Splenomegaly, Pancre... OMIM:276700
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Micronodular cirrhosis, Polycythemia, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension, ... ORPHA:309854
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Micronodular cirrhosis, Microvesicular hepatic steatosis, Fatigable weakness of speech muscles, N... ORPHA:404454
Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Hepatomegaly, Sensorineural hearing impairment, Pancreatitis, Splenomegaly ORPHA:565612
Joubert Syndrome With Hepatic Defect
Cirrhosis, Optic disc coloboma, Neoplasm of the liver, Hepatomegaly, Congenital hepatic fibrosis,... ORPHA:1454
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Vaginal atresia, Hydrometrocolpos, Splenomegaly OMIM:617088
Pachydermoperiostosis
Hepatomegaly, Elevated circulating growth hormone concentration, Anemia, Splenomegaly ORPHA:2796
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Azoospermia, Papilledema, Cholelithiasis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Senso... ORPHA:2072
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Hypoplasia of penis, Low-set, posteriorly rotated ears, Polysplenia, Hepatoblasto... ORPHA:373
Reynolds Syndrome
Hepatomegaly, Jaundice, Biliary cirrhosis, Splenomegaly OMIM:613471
Cranioectodermal Dysplasia 2
Polysplenia, Biliary cirrhosis, Abnormality of the pinna, Cholestasis, Hepatomegaly, Cholangitis,... OMIM:613610
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Cholelithiasis, Splenomegaly OMIM:263700
Mucopolysaccharidosis Type 2
Otosclerosis, Conductive hearing impairment, Decreased nerve conduction velocity, Papilledema, En... ORPHA:580
Lysinuric Protein Intolerance
Hemophagocytosis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Pancreatitis OMIM:222700
Mucolipidosis Type Ii
Conductive hearing impairment, Sensorineural hearing impairment, Left ventricular hypertrophy, Sp... ORPHA:576
Beckwith-Wiedemann Syndrome
Otosclerosis, Cryptorchidism, Posterior helix pit, Abnormality of earlobe, Exocrine pancreatic in... ORPHA:116
Multiple Myeloma
Anemia, Lymphadenopathy, Splenomegaly ORPHA:29073
Gaucher Disease Type 3
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly ORPHA:77261
22Q11.2 Deletion Syndrome
Cryptorchidism, Small earlobe, Abnormality of the uterus, Overfolded helix, Conductive hearing im... ORPHA:567
Cockayne Syndrome Type 3
Adult onset sensorineural hearing impairment, Macrotia, Conductive hearing impairment, Hepatomega... ORPHA:90324
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Conductive hearing impairment, Papilledema, Enlarged tonsils, Sensorineural hearing... ORPHA:217085
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252500
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Conductive hearing impairment, Papilledema, Enlarged tonsils, Sensorineural hearing... ORPHA:217093
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Hearing impairment, Optic nerve compression, Anemia, Splenomegaly, Lymphadenopathy ORPHA:667
Camurati-Engelmann Disease
Hepatomegaly, Hearing impairment, Splenomegaly, Optic nerve compression, Facial palsy, Anemia, Le... ORPHA:1328
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Microcytic anemia, Macrotia, Elevated circulating thyroid-stimulating hormone conce... OMIM:256040
Niemann-Pick Disease Type C
Bone-marrow foam cells, Fetal ascites, Hepatomegaly, Jaundice, Hearing impairment, Ascites, Splen... ORPHA:646
Cockayne Syndrome
Progressive sensorineural hearing impairment, Cryptorchidism, Hepatomegaly, Splenomegaly, Decreas... ORPHA:191
Hajdu-Cheney Syndrome
Hepatomegaly, Hypospadias, Hearing impairment, Splenomegaly ORPHA:955
Gaucher Disease
Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Hepatitis, Hearing impairment, Anemia, S... ORPHA:355
Niemann-Pick Disease Type B
Cirrhosis, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Cholelithiasis, Neoplasm of... ORPHA:77293
Proteus Syndrome
Thymus hyperplasia, Long penis, Ovarian neoplasm, Narrow internal auditory canal, Macrotia, Macro... ORPHA:744
Blau Syndrome
Abnormal cranial nerve morphology, Abnormal salivary gland morphology, Facial palsy, Anemia, Sple... ORPHA:90340
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Posterior helix pit, Enlarged kidney, Polysplenia, Hepatomegaly, Hearing impairme... OMIM:312870
Behçet Disease
Pancreatitis, Orchitis, Lymphadenopathy, Splenomegaly ORPHA:117
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope... ORPHA:79277
Plague
Lymphadenitis, Hepatomegaly, Hearing impairment, Splenomegaly, Enlarged mesenteric lymph node ORPHA:707
Cystinosis, Nephropathic
Hepatomegaly, Male hypogonadism, Exocrine pancreatic insufficiency, Splenomegaly OMIM:219800
Aspartylglucosaminuria
Hepatomegaly, Macroorchidism, Microtia, Splenomegaly ORPHA:93
Hepatoerythropoietic Porphyria
Hemolytic anemia, Erythroid hyperplasia, Splenomegaly ORPHA:95159
African Trypanosomiasis
Papilledema, Hepatomegaly, Jaundice, Abnormal prolactin level, Splenomegaly, Hepatosplenomegaly, ... ORPHA:3385
Okamoto Syndrome
Bifid uterus, Abnormality of the helix, Macrotia,