Gene: Oprl1 MGI:97440

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Gene Summary

Name:
opioid receptor-like 1
Synonyms:
MOR-C,  ORL1,  XOR1,  LC132,  nociceptin/ orphaninFQ receptor,  morc,  N/OFQ receptor,  NOP

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 Oprl1em1(IMPC)Mbp HOM Early adult 0.00
small liver Oprl1em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Oprl1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Oprl1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Oprl1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Oprl1 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 Oprl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Nanophthalmos 4
Microphthalmia OMIM:615972
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:614480
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Nanophthalmos
Microphthalmia ORPHA:35612
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Microphtha... ORPHA:858
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Jaundic... OMIM:616278
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Hemochromatosis, Type 2B
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly OMIM:613313
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatomegaly, Jaund... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Fanconi Anemia, Complementation Group G
Neutropenia, Thrombocytopenia, Microphthalmia, Anemia, Leukemia OMIM:614082
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic ... OMIM:616828
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepat... OMIM:613812
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Thrombocytopenia, Jaundice, Hepatomegaly, Microphthalmia, Anemia,... ORPHA:290
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly ORPHA:75234
Mmep Syndrome
Microphthalmia ORPHA:3434
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia ORPHA:83461
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Paragangliomas 1
Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Vagal paraganglioma, Conductive heari... OMIM:168000
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... OMIM:615559
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Paragangliomas 3
Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Pulsatile t... OMIM:605373
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly OMIM:608540
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:613027
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatic failure,... OMIM:235555
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
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
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Hemochromatosis, Type 2A
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:602390
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Ascites, Aplastic anemia, Splenomegaly, Hepatosplen... OMIM:615122
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Hepatic fai... ORPHA:108
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Elevated hepatic transaminase, Cholecystitis, Acute hepatic failure, Hepa... ORPHA:131
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly ORPHA:664
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Cofs Syndrome
Microphthalmia ORPHA:1466
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Matthew-Wood Syndrome
Abnormal spleen morphology, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the pancreas, Ann... ORPHA:2470
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
Immunodeficiency 32B
Splenomegaly OMIM:226990
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:613489
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Elevated circulating alanin... ORPHA:53035
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Leishmaniasis
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microphthalmia ORPHA:1528
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Pierpont Syndrome
Microphthalmia ORPHA:487825
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Gracile Bone Dysplasia
Aniridia, Asplenia, Ascites, Microphthalmia, Hypoplastic spleen OMIM:602361
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly, Hepatic failure ORPHA:75233
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Microphthalmia OMIM:619053
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Microphthalmia OMIM:602501
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Pierpont Syndrome
Microphthalmia OMIM:602342
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Biliary tract abnormality ORPHA:3191
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly OMIM:609981
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly... OMIM:606003
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Biliary hyperplasia, Cholelithiasis,... ORPHA:567983
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Hemochromatosis, Type 1
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepatomegaly, Ascites, Cardio... OMIM:235200
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia ORPHA:79312
Oculoauricular Syndrome
Macular hypoplasia, Microphakia, Microphthalmia OMIM:612109
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Neonatal Lupus Erythematosus
Hemolytic anemia, Elevated hepatic transaminase, Neutropenia, Pancytopenia, Thrombocytopenia, Hep... ORPHA:398124
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Mevalonic Aciduria
Splenomegaly ORPHA:29
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Elevated circulating aspartate aminotransferase concentration, Microcytic... OMIM:257200
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy, Microphthalmia, Splenic rupture ORPHA:335
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:615630
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcin... ORPHA:2137
Temtamy Syndrome
Microphthalmia ORPHA:1777
Adult-Onset Still Disease
Elevated hepatic transaminase, Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis... ORPHA:829
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:256550
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Anterior Segment Dysgenesis 5
Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Microphthalmia OMIM:604229
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibrosis, Cholestasis, ... ORPHA:30391
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Buphthalmos, Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic... OMIM:610199
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hypoplasia of the iris, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphaden... ORPHA:169090
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Joubert Syndrome 22
Microphthalmia OMIM:615665
Trigeminal Neuralgia
Episodic paroxysmal anxiety, Allodynia ORPHA:221091
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Norrie Disease
Hypoplasia of the iris, Microphthalmia OMIM:310600
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly OMIM:201100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Refsum Disease
Microphthalmia, Splenomegaly ORPHA:773
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Dk1-Cdg
Hepatomegaly, Congenital hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly ORPHA:91131
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocellular carcinoma, Hepat... ORPHA:370
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Proteus Syndrome
Lymphangioma, Splenomegaly OMIM:176920
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Autosomal Dominant Keratitis
Aniridia, Bilateral microphthalmos, Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of th... ORPHA:2334
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Decreased liver function... OMIM:251290
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Microphthalmia OMIM:618652
Congenital Disorder Of Glycosylation, Type Ie
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly OMIM:608799
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Adams-Oliver Syndrome
Cirrhosis, Thrombocytopenia, Congenital hepatic fibrosis, Ascites, Microphthalmia, Leukopenia, Po... ORPHA:974
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Alpha-Mannosidosis
Hepatomegaly, Splenomegaly ORPHA:61
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Trisomy 13
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia ORPHA:3378
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly... ORPHA:39041
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Microphthalmia OMIM:614833
Coach Syndrome 1
Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Hepatic fibrosis, Hepatome... OMIM:216360
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231226
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Elevated hepatic transaminase, Neutropenia, Thrombocytopenia, Jaundice, Hepatom... ORPHA:540
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple... OMIM:259720
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
Fanconi Anemia, Complementation Group S
Microphthalmia, Anemia OMIM:617883
Bresek Syndrome
Optic nerve hypoplasia, Microphthalmia ORPHA:85284
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic steatosis, Cholestasis,... ORPHA:264580
Beta-Thalassemia Major
Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe... ORPHA:231214
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly OMIM:602557
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Prolidase Deficiency
Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Prolonged neonat... OMIM:170100
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly... ORPHA:47612
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fatal liver failure in infancy, Fetal ascites, Sea-blue histiocytosis, Pr... OMIM:257220
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Optic nerve hypoplasia, Microphthalmia, Neutropenia OMIM:609053
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Elevated hepatic transaminase, Cholestasis, Pancytopenia, Thrombocytopenia, Hepatomega... OMIM:614576
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Cronkhite-Canada Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:2930
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Monosomy 18P
Microphthalmia ORPHA:1598
Primary Sclerosing Cholangitis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Acute hepatic failure, Chroni... ORPHA:171
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microphthalmia OMIM:152950
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Splenomegaly ORPHA:834
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Hepatomegaly, Splenomegaly, Ascites, Pulmonary lymphangiectasia, Abn... ORPHA:1655
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splen... OMIM:225750
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Chronic hepatic failure, Hepatomegaly, Cardiomegaly, Cholang... ORPHA:465508
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Seckel Syndrome 2
Microphthalmia OMIM:606744
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochr... OMIM:615512
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Meckel Syndrome, Type 4
Bile duct proliferation, Microphthalmia OMIM:611134
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Cat Eye Syndrome
Biliary atresia, Microphthalmia OMIM:115470
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Splenomegaly ORPHA:2348
Joubert Syndrome 14
Microphthalmia OMIM:614424
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Microphthalmia, Anemia OMIM:614083
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundice, Splenomegaly, Hepatosplenomegaly OMIM:614866
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Aredyld Syndrome
Hepatomegaly, Splenomegaly ORPHA:1133
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly,... OMIM:617591
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Baraitser-Winter Syndrome 1
Microphthalmia OMIM:243310
Neurotrophic Keratopathy
Diabetes mellitus, Allodynia ORPHA:137596
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Elevated hepatic transaminase, Pancytopenia, Jaundice, Thrombocytopenia, Hepato... OMIM:603553
Spondyloepiphyseal Dysplasia, Nishimura Type
Microphthalmia ORPHA:163649
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Abnormal lymphatic vessel morphology, Abnormal spleen morpholo... ORPHA:464329
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:92
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Scheie Syndrome
Hepatomegaly, Splenomegaly ORPHA:93474
Rodrigues Blindness
Microphthalmia OMIM:268320
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Aplasia/Hypoplasia of the iris, Pancreatic fibrosis, Cystic l... ORPHA:564
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia ORPHA:370959
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Hepatomegaly, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, ... OMIM:235255
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Prolonged neonatal jaundice, Hepat... OMIM:607625
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Hardikar Syndrome
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholangitis, Splenomegaly, Portal hyperten... OMIM:612726
Muckle-Wells Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:575
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Moebius Syndrome
Microphthalmia OMIM:157900
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
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Increased B cell count, Lym... ORPHA:2442
Primary Lipodystrophy
Hepatic steatosis, Cirrhosis, Pancreatitis, Splenomegaly ORPHA:90970
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Legionnaires Disease
Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenomegaly, Bone marrow hypocellularity, Lympha... ORPHA:549
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Pancreatic cysts, Periportal fibrosis, Biliary hyperplasia, Cholestasis, Thrombo... ORPHA:731
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:259700
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Microphthalmia OMIM:120200
Rere-Related Neurodevelopmental Syndrome
Microphthalmia ORPHA:494344
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly OMIM:252930
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly ORPHA:36412
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Macrovesicular hepatic steatosis, Neutropenia, Thrombocytopenia, Hepatomegaly, S... OMIM:617303
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Neutropenia in presence of anti-neutropil antibodies, Thrombocytop... ORPHA:525731
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
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
Pycnodysostosis
Hepatomegaly, Anemia, Splenomegaly ORPHA:763
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Splenomegaly, Ascites, Cardiomegaly, Anemia, Hepatic failure, Hep... OMIM:608013
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hepatocellular carcinoma, Acute hepati... OMIM:276700
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia, Microphthalmia ORPHA:99776
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:231005
Sialuria
Hepatomegaly, Splenomegaly OMIM:269921
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hepatomegaly, Hepatitis, Hypersplenism, Splenomegaly, Portal hypertension OMIM:613385
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Lym... OMIM:267700
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia OMIM:616734
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222