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Gene: Cpox MGI:104841

Gene Summary

Name:

coproporphyrinogen oxidase

Synonyms:

clone 560, cac, M100835, Cpo, nct

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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
preweaning lethality, complete penetrance		Cpox^em1(IMPC)Bay	HOM		Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cpox 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.

Human diseases associated with Cpox (3 diseases)
Human diseases predicted to be associated with Cpox (1020 diseases)

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

Disease	Matching phenotypes	Source
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo...	OMIM:618892
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma	ORPHA:79273

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

Disease	Matching phenotypes	Source
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Cataract 44	Developmental cataract	OMIM:616509
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Trichomegaly	Cataract	OMIM:190330
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Cataract 7	Developmental cataract	OMIM:115660
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Nathalie Syndrome	Cataract	ORPHA:2663
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Corneal dystrophy, lisch epithelial	Corneal dystrophy	OMIM:300778
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Uncombable Hair Syndrome 2	Juvenile cataract	OMIM:617251
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
X-Linked Retinoschisis	Cataract	ORPHA:792
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Foveal Hypoplasia 1	Presenile cataracts	OMIM:136520
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Cataract-Ataxia-Deafness-Retardation Syndrome	Developmental cataract	OMIM:212710
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract	OMIM:274205
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Elevated circulating C-react...	OMIM:604416
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Galactosemia Ii	Cataract	OMIM:230200
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract	OMIM:619813
Galactosemia Iv	Cataract	OMIM:618881
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Cataract 47	Cataract, Microcornea	OMIM:612018
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:300752
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Cholelithiasis, Cirrhosis, Abnormal circulating porphyrin concentration	ORPHA:79278
Nathalie Syndrome	Cataract	OMIM:255990
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly	OMIM:618805
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H...	OMIM:615234
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia	OMIM:619013
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Plummer-Vinson Syndrome	Iron deficiency anemia, Decreased circulating ferritin concentration, Hypochromic microcytic anemia	ORPHA:54028
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cataract	OMIM:300261
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Dominant Beta-Thalassemia	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia	OMIM:619423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating amyloid A concentrat...	OMIM:619750
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Cataract 19, Multiple Types	Cortical pulverulent cataract	OMIM:615277
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Hypomyelination-Congenital Cataract Syndrome	Developmental cataract	ORPHA:85163
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Glutamate Formiminotransferase Deficiency	Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Beta-Thalassemia Major	Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi...	ORPHA:231214
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration	OMIM:245900
Cataract-Deafness-Hypogonadism Syndrome	Developmental cataract	ORPHA:1383
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Decreased circulating carnitine concentration	OMIM:611283
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti...	OMIM:600462
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Spastic Paraparesis-Deafness Syndrome	Cataract	ORPHA:2815
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia	OMIM:619147
Immunodeficiency 89 And Autoimmunity	Elevated circulating C-reactive protein concentration, Decreased eosinophil count, Hypochromic mi...	OMIM:619632
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Thanatophoric Dysplasia, Glasgow Variant	Cataract	OMIM:273680
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen...	OMIM:613313
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract	OMIM:611544
Formiminoglutamic Aciduria	Anemia, Abnormal circulating histidine concentration, Megaloblastic anemia	ORPHA:51208
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp...	OMIM:601775
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Aniridia 3	Cataract, Aniridia	OMIM:617142
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Peroxisome Biogenesis Disorder 10A (Zellweger)	Cataract	OMIM:614882
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Nephronophthisis	Anemia	ORPHA:655
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly	ORPHA:1296
Acatalasemia	Microcytic anemia	ORPHA:926
Leber Congenital Amaurosis 6	Cataract, Keratoconus	OMIM:613826
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Cataract 48	Cataract	OMIM:618415
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Reduced haptoglobin level, Congenital hypopla...	OMIM:105600
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Developmental cataract	OMIM:246000
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Elevated hepatic iron concentrat...	OMIM:206100
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Barth Syndrome	Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia...	OMIM:302060
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Elevated circulating glutaric acid concentration, Hypochromic mic...	ORPHA:66634
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Blepharoptosis, Myopia, And Ectopia Lentis	Ectopia lentis	OMIM:110150
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo...	OMIM:618892
Congenital Varicella Syndrome	Cataract	ORPHA:291
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract	OMIM:609115
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thro...	OMIM:226300
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Cataract 2, Multiple Types	Microcornea, Nuclear cataract, Nuclear pulverulent cataract, Developmental cataract, Aculeiform c...	OMIM:604307
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma	OMIM:120433
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Cataract 21, Multiple Types	Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul...	OMIM:610202
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Klippel-Trénaunay Syndrome	Microcytic anemia, Hepatomegaly, Ascites	ORPHA:90308
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Hepatomegaly,...	OMIM:251900
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia, Elevated circulating creatine kinase concentration, Methylmalonic acidemia	OMIM:612073
Morm Syndrome	Cataract	ORPHA:75858
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Methylmalonic ac...	OMIM:236270
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis,...	OMIM:209950
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate	OMIM:619046
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Microvesicular hepatic steatosis	OMIM:610198
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
X-Linked Intellectual Disability, Stocco Dos Santos Type	Cataract	ORPHA:85288
Cataract 24	Anterior lenticonus, Anterior polar cataract	OMIM:601202
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced hapto...	OMIM:611881
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Cholelithiasis, Extramedullary hematopoiesis, Persistence of hem...	ORPHA:231222
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Acute Erythroid Leukemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia	ORPHA:318
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Infantile Liver Failure Syndrome 1	Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia	OMIM:615438
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr...	OMIM:620632
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Cataract 6, Multiple Types	Posterior polar cataract, Developmental cataract	OMIM:116600
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sidero...	OMIM:617021
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract	OMIM:614876
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
X-Linked Endothelial Corneal Dystrophy	Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity	ORPHA:293621
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea	ORPHA:2528
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Cataract	ORPHA:1373
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy...	OMIM:136800
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Cataract	ORPHA:2489
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg...	OMIM:620010
Von Willebrand Disease	Microcytic anemia, Thrombocytopenia	ORPHA:903
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Cataract	OMIM:620425
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Xeroderma Pigmentosum, Complementation Group G	Cataract	OMIM:278780
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Branchiogenic-Deafness Syndrome	Short stature, Short distal phalanx of finger, Branchial fistula, Branchial cyst	OMIM:609166
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni...	OMIM:226990
Stickler Syndrome, Type V	Cataract	OMIM:614284
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Neoplasm of the pancreas, Intermi...	ORPHA:97283
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal guttata, Corneal dystrophy	OMIM:615523
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Wolcott-Rallison Syndrome	Hypoalbuminemia, Exocrine pancreatic insufficiency, Ascites, Abnormality of the liver, Hyperbilir...	ORPHA:1667
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Galactose Epimerase Deficiency	Cataract	ORPHA:79238
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia	OMIM:613561
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Peroxisome Biogenesis Disorder 11B	Cataract	OMIM:614885
Wagner Vitreoretinopathy	Cataract	OMIM:143200
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12	Cataract	OMIM:620461
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatome...	ORPHA:507
Supernumerary Nostril	Microcornea, Developmental cataract	ORPHA:141096
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased serum thromboxane B2, Decreased circulating 12-HETE, Iron deficiency anemia, Abnormal c...	OMIM:618372
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Hyperuricemia	ORPHA:371
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Iris coloboma, Posterior synechiae of the anterior chamber, Developmental cataract	OMIM:616722
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Developmental And Epileptic Encephalopathy 35	Cataract	OMIM:616647
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Astigmatism	ORPHA:231183
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, ...	OMIM:277410
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Developmental cataract	OMIM:600559
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg...	OMIM:616828
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia	OMIM:607906
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Cataract, Aplasia/Hypoplasia of the lens	ORPHA:1381
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Iris coloboma, Corneal opacity	ORPHA:1473
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Galactosemia Iii	Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly	OMIM:230350
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Hypertriglyceridemia, Histiocytosis, Enla...	ORPHA:168569
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating arginine concentration, Abnormal circulating glycine concentration, Abnormal...	ORPHA:79096
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract	OMIM:618392
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Absent circulating B cells, Generalized lymphadenopathy, Hypertriglyc...	OMIM:620282
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Retinitis Pigmentosa 4	Cataract	OMIM:613731
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anterior chamber	OMIM:251750
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia	ORPHA:293967
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Achromatopsia 3	Cataract	OMIM:262300
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Cahmr Syndrome	Lamellar cataract	OMIM:211770
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Intestinal Dysmotility Syndrome	Cataract	OMIM:620045
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia	ORPHA:2575
Martsolf Syndrome 2	Cataract, Developmental cataract	OMIM:619420
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Neoplasm of the pancreas	ORPHA:2959
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Weill-Marchesani Syndrome 3	Microspherophakia, Shallow anterior chamber, Ectopia lentis	OMIM:614819
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Dermatitis, Atopic	Conjunctivitis, Keratoconus, Cataract	OMIM:603165
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Hyperhomo...	OMIM:275350
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cataract	OMIM:615352
Aniridia-Absent Patella Syndrome	Cataract, Aniridia	ORPHA:1069
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
Verheij Syndrome	Short 5th finger, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Short neck, Shor...	OMIM:615583
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly	ORPHA:945
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi...	OMIM:214900
Lesch-Nyhan Syndrome	Anemia, Hyperuricemia	ORPHA:510
Corneal Endothelial Dystrophy	Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In...	OMIM:217700
Leber Congenital Amaurosis 2	Cataract, Keratoconus	OMIM:204100
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholestero...	OMIM:618885
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Leukocytosis, Splenomegaly, Hypocalcemia, Hypophosphatemia, Hepatomegaly, Hyp...	ORPHA:289157
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Impaired ...	OMIM:608203
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca...	OMIM:613490
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru...	ORPHA:294
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Hyp...	ORPHA:2169
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract	ORPHA:67048
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Th...	OMIM:614857
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial ...	OMIM:603194
Cone-Rod Dystrophy 16	Cataract	OMIM:614500
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract	ORPHA:1875
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia	ORPHA:108
Weill-Marchesani Syndrome 4	Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis, Shallow ...	OMIM:613195
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Leber Congenital Amaurosis	Cataract, Keratoconus	ORPHA:65
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Acquired Von Willebrand Syndrome	Normocytic anemia, Hypochromic anemia, Refractory anemia	ORPHA:99147
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production	OMIM:614900
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Increased mean corpuscular volume,...	ORPHA:97214
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract	ORPHA:1366
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Retinopathy Of Prematurity	Cataract	ORPHA:90050
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Wildervanck Syndrome	Low posterior hairline, Webbed neck, Meningocele, Short neck	ORPHA:3456
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Leber Congenital Amaurosis 8	Cataract, Keratoconus	OMIM:613835
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Branchiogenic Deafness Syndrome	Short distal phalanx of finger, Branchial fistula, Branchial cyst, Short stature, Osteolytic defe...	ORPHA:50815
Stiff Skin Syndrome	Cataract	OMIM:184900
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hepatitis, Hypomagnesemia, Autoimmune hemolytic anemia, Splenomegaly, Hypocalcem...	ORPHA:37042
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration	OMIM:255125
Microphthalmia, Isolated 5	Cataract	OMIM:611040
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri...	OMIM:612526
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Hamamy Syndrome	Microcytic anemia, Hypochromic anemia	OMIM:611174
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Severe postnatal growth retardation, Camptodactyly, Tapered fi...	ORPHA:435938
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida	ORPHA:2476
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract	OMIM:616108
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
X-Linked Mandibulofacial Dysostosis	Short stature, Webbed neck, Branchial anomaly	ORPHA:1131
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract	ORPHA:2410
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract	ORPHA:1345
Usher Syndrome Type 1	Iris hypopigmentation, Cataract	ORPHA:231169
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Leukocytosis, Anemia, Neutrophilia, Hepatomegaly	ORPHA:99843
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ...	OMIM:610377
Orthostatic Hypotension 2	Anemia	OMIM:618182
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice	ORPHA:75234
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract	OMIM:601794
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Camptodactyly, Talipes equinovarus, Spina bifida	OMIM:211960
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Leber Congenital Amaurosis 1	Keratoconus, Cataract	OMIM:204000
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia...	OMIM:301074
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Jaundice	OMIM:250940
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Cataract	OMIM:132450
Mevalonic Aciduria	Cataract	ORPHA:29
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Myopathy, Distal, 7, Adult-Onset, X-Linked	Cataract	OMIM:301075
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation	OMIM:618042
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Senior-Loken Syndrome	Cataract	ORPHA:3156
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Cataract 49	Posterior cortical cataract	OMIM:619593
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase conce...	OMIM:618775
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis	ORPHA:3318
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract	ORPHA:363741
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Iris coloboma, Buphthalmos	OMIM:212550
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Congenital Disorder Of Glycosylation, Type Iiw	Increased hepatic echogenicity, Microcytic anemia, Hepatic steatosis, Splenomegaly, Prolonged neo...	OMIM:619525
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly	ORPHA:664
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Leukodystrophy, Hypomyelinating, 24	Cataract	OMIM:619851
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration	OMIM:121270
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Wagr Syndrome	Cataract, Aplasia/Hypoplasia of the iris	ORPHA:893
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Congenital Rubella Syndrome	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Peroxisome Biogenesis Disorder 10B	Cataract	OMIM:617370
Monilethrix	Cataract	ORPHA:573
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Microcytic anemia, Splenomegaly, Hypertriglyceridemia, C...	OMIM:256040
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Infantile Spasms-Broad Thumbs Syndrome	Cataract	ORPHA:3173
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Finger syndactyly, Micromelia, Intrauterine growth retardation, Encephalocele,...	ORPHA:1908
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Gaucher Disease Type 1	Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Increased circulating ferri...	ORPHA:77259
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Autosomal Recessive Stickler Syndrome	Cataract, Astigmatism	ORPHA:250984
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protei...	ORPHA:1451
Mcleod Syndrome	Acanthocytosis, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase con...	OMIM:300842
Joubert Syndrome 9	Cataract, Astigmatism	OMIM:612285
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxia...	OMIM:611134
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Retinitis Pigmentosa 2	Cataract	OMIM:312600
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ...	OMIM:602347
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,...	ORPHA:398124
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Hepato...	OMIM:557000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Hypoamylasemia, Aplastic anemia, Increased mean c...	ORPHA:811
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hepatomega...	OMIM:277380
Schisis Association	Encephalocele, Anencephaly, Micromelia, Spina bifida	ORPHA:63862
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis	OMIM:616719
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Premature Aging Syndrome, Okamoto Type	Cataract	OMIM:601811
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Developmental cataract	ORPHA:436174
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract	OMIM:302950
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Anterior Segment Dysgenesis 6	Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova...	OMIM:617315
Peutz-Jeghers Syndrome	Iron deficiency anemia, Bile duct polyp, Neoplasm of the pancreas, Biliary tract abnormality	OMIM:175200
Gyrate Atrophy Of Choroid And Retina	Cataract, Subcapsular cataract	ORPHA:414
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin conc...	ORPHA:540
Wilson Disease	Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto...	ORPHA:905
Isolated Klippel-Feil Syndrome	Webbed neck, Congenital muscular torticollis, Low posterior hairline, Short neck, Spina bifida	ORPHA:2345
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Diamond-Blackfan Anemia 10	Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Ifap Syndrome 2	Cataract, Keratoconjunctivitis sicca, Keratitis	OMIM:619016
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom...	OMIM:606003
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Meningocele	ORPHA:3265
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion	OMIM:614878
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cataract	OMIM:613730
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia,...	OMIM:617591
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia...	OMIM:608885
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Alport Syndrome 2, Autosomal Recessive	Cataract, Anterior lenticonus, Corneal erosion	OMIM:203780
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ...	OMIM:617941
Prolidase Deficiency	Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:170100
Chromosome 16Q12 Duplication Syndrome	Cataract, Anisocoria	OMIM:619649
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Subcapsular cataract	OMIM:612674
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro...	OMIM:613990
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Reduced number of intrahepatic bile duct...	ORPHA:79284
Nance-Horan Syndrome	Cataract, Microcornea	ORPHA:627
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils	ORPHA:33226
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive pro...	OMIM:617388
Chiari Malformation Type Ii	Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida	OMIM:207950
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia	ORPHA:98673
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227990
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Incr...	OMIM:613179
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:235555
Familial Isolated Hypoparathyroidism	Cataract	ORPHA:2238
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Caudal Duplication	Myelomeningocele, Spina bifida	ORPHA:1756
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Intrauterine ...	ORPHA:1327
Kearns-Sayre Syndrome	Sideroblastic anemia	OMIM:530000
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Cataract, Keratitis	OMIM:612843
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Thoraco-Abdominal Enteric Duplication	Meningocele, Camptodactyly of finger	ORPHA:1759
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Elevated circulating cr...	OMIM:615895
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia	ORPHA:309031
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopathy	ORPHA:85414
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach...	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cystic hygroma, Intrauterine growth retardation, Increased nuchal translucency, Branchial anomaly	ORPHA:453499
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Hereditary Mucoepithelial Dysplasia	Cataract, Corneal dystrophy	ORPHA:1839
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Distal 22Q11.2 Microdeletion Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San...	ORPHA:261330
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Bor Syndrome	Branchial cyst	ORPHA:107
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hepatitis, Macrocytic anemia, Hyperuricemia, Hyponatremia, Eosinophilia, Hyper...	ORPHA:199299
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh...	OMIM:251880
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Peroxisome Biogenesis Disorder 9B	Cataract	OMIM:614879
Sirenomelia	Sirenomelia, Aplasia/Hypoplasia of the radius, Spina bifida	ORPHA:3169
Vogt-Koyanagi-Harada Disease	Cataract	ORPHA:3437
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ...	OMIM:613027
Branchiootorenal Syndrome 1	Branchial fistula, Branchial cyst	OMIM:113650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Hemochromatosis, Type 1	Increased circulating iron concentration, Increased circulating ferritin concentration, Ascites, ...	OMIM:235200
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Fuchs Heterochromic Iridocyclitis	Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl...	ORPHA:263479
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy	ORPHA:1806
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cataract	OMIM:619780
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Elevated circula...	ORPHA:264580
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Thickened nuchal skin fold, Myelomeningoce...	ORPHA:2437
Exudative Vitreoretinopathy 6	Cataract, Nuclear cataract, Cortical cataract	OMIM:616468
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227982
Microphthalmia With Brain And Digit Anomalies	Sclerocornea, Cataract, Microcornea, Iris coloboma	ORPHA:139471
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Encephalocele, Hand polydactyly, Short neck, Brachydactyly,...	ORPHA:2162
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Ascites	ORPHA:2414
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Lesch-Nyhan Syndrome	Megaloblastic anemia, Hyperuricemia	OMIM:300322
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Autoimmune hemoly...	OMIM:620565
Dystonia-Deafness Syndrome 1	Cataract	OMIM:607371
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Elevated circulating creatine kinase concentration, Hepatomegaly,...	ORPHA:79240
Revesz Syndrome	Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia	OMIM:268130
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,...	OMIM:613812
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Lymphadenopathy, Anemia, Hyperprotei...	ORPHA:29073
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Macrocytic anemia	OMIM:614294
Intellectual Developmental Disorder, Autosomal Dominant 72	Short neck, Spina bifida	OMIM:620439
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hyperammonemia, Hepatome...	OMIM:618641
Lymphedema-Hypoparathyroidism Syndrome	Cataract	OMIM:247410
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea	OMIM:617306
Isolated Posterior Meningocele	Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel...	ORPHA:268810
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Neoplasm of the pancreas, Intermi...	ORPHA:97282
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Anterior chamber synechiae	ORPHA:85410
Amyloidosis, Finnish Type	Cataract, Lattice corneal dystrophy	OMIM:105120
Adenohypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95512
Cerebrocostomandibular Syndrome	Webbed neck, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Sh...	ORPHA:1393
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	OMIM:222700
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Triploidy	Finger syndactyly, Intrauterine growth retardation, Short neck, Hydrocephalus, Meningocele, Holop...	ORPHA:3376
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Sh...	ORPHA:2311
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Brachydactyly, Branchial anomaly, Prominent fingertip pads, Short palm	ORPHA:466950
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract	OMIM:300578
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Fountain Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal metacarpal morphol...	ORPHA:3219
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi...	ORPHA:2839
Panhypophysitis	Hyponatremia, Normochromic anemia	ORPHA:95513
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Increased nuchal translucency, Branchial anomaly, Postaxial polydactyly, Talipes equinovarus, Cys...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Increased nuchal translucency, Branchial anomaly, Postaxial polydactyly, Talipes equinovarus, Cys...	ORPHA:352665
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Hyperbilirubinemia, Hepatomegaly, Abno...	OMIM:619488
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Acanthocytosis, Neoplasm of the p...	ORPHA:97280
Anophthalmia Plus Syndrome	Deviation of finger, Spina bifida	ORPHA:1104
Acute Adrenal Insufficiency	Normocytic anemia, Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulatin...	ORPHA:95409
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Gaucher Disease, Type Ii	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:230900
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto...	OMIM:612109
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Megaloblastic anemia, Hyposerinemia	ORPHA:79351
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Ascites, Hypophosphatem...	OMIM:276700
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Addison Disease	Normocytic anemia, Thymoma, Thiamine-responsive megaloblastic anemia, Hyperuricemia, Hyponatremia...	ORPHA:85138
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, Iron deficiency anemia, Decreased serum zinc, Anemia...	ORPHA:79408
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, ...	ORPHA:90051
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber	ORPHA:280921
Osteopetrosis, Autosomal Recessive 7	Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly	OMIM:612301
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Pituitary Apoplexy	Hyponatremia, Normochromic anemia	ORPHA:95613
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Traboulsi Syndrome	Cataract, Ectopia lentis, Phakodonesis, Iris atrophy, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Oligomeganephronia	Branchial cyst	ORPHA:2260
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Iniencephaly	Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Talipes equinovarus, Spina bifida...	ORPHA:63259
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Conjunctivitis	OMIM:278730
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis	OMIM:618947
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Neutrophilia	OMIM:612852
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi...	ORPHA:567983
Ogden Syndrome	Polycythemia, Hyperbilirubinemia, Microvesicular hepatic steatosis, Cardiomegaly, Iron deficiency...	OMIM:300855
Microphthalmia, Syndromic 5	Cataract, Microcornea	OMIM:610125
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenomegaly, Hepatomegaly, Thro...	OMIM:263700
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Thrombocytopenia,...	OMIM:277400
Intermediate Uveitis	Cataract, Band keratopathy, Posterior synechiae of the anterior chamber	ORPHA:279914
Distal 22Q11.2 Microduplication Syndrome	Webbed neck, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Camptodactyly of toe, Lo...	ORPHA:261337
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a...	ORPHA:809
Gitelman Syndrome	Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Neoplasm of t...	ORPHA:358
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Short neck, Spina bifida, Roc...	OMIM:616038
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology...	ORPHA:1120
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes equinovarus, Meningocele, Dermal...	OMIM:600145
Q Fever	Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, Hepatomegal...	ORPHA:781
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Sclerocornea, Cataract, Microcornea, Ectopia pupillae	OMIM:615877
Sheehan Syndrome	Hyponatremia, Normochromic anemia	ORPHA:91355
Chromosome 17P13.1 Deletion Syndrome	Webbed neck, Broad neck, Broad hallux, Umbilical hernia, Long hallux, Arachnodactyly, Short neck,...	OMIM:613776
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Growth delay	OMIM:614424
Phocomelia, Schinzel Type	Finger aplasia, Disproportionate short stature, Radial bowing, Micromelia, Ectrodactyly, Abnormal...	ORPHA:2879
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell c...	OMIM:620376
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,...	ORPHA:50918
8Q24.3 Microdeletion Syndrome	Short 5th finger, Infancy onset short-trunk short stature, Micromelia, Branchial cyst, Finger cli...	ORPHA:508488
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly	OMIM:231005
Chondrodysplasia Punctata, Autosomal Dominant	Cataract	OMIM:118650
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Megal...	ORPHA:79282
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Treacher-Collins Syndrome	Branchial fistula, Encephalocele	ORPHA:861
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Peritonitis, Elevated circulating C-reactive protein concentration, E...	OMIM:249100
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Clinodactyly of the 5th finger, Meningocele	ORPHA:2031
Leiomyomatosis, Diffuse, With Alport Syndrome	Cataract, Anterior lenticonus, Lenticonus	OMIM:308940
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Natal tooth, Broad hallux, Branchial cyst, Clinodactyly, Intrauterine growth retardation, Short s...	OMIM:620186
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease...	ORPHA:289390
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Encephalocele, T...	ORPHA:1827
Schwannomatosis, Vestibular	Cataract, Posterior subcapsular cataract, Lisch nodules, Juvenile posterior subcapsular lenticula...	OMIM:101000
Wilson Disease	Hypouricemia, Hypoalbuminemia, Portal fibrosis, Ascites, Hyperbilirubinemia, Hepatic steatosis, S...	OMIM:277900
Pearson Syndrome	Bone marrow hypocellularity, Hypomagnesemia, Exocrine pancreatic insufficiency, Pancytopenia, Abn...	ORPHA:699
Glycogen Storage Disease Ib	Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatitis, Pancreatic fibrosis, Neutropenia, Hepa...	OMIM:232220
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged neonatal jaundice,...	ORPHA:30391
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:77261
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Neurocutaneous Melanocytosis	Meningocele	ORPHA:2481
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creatine kinase conce...	OMIM:610717
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
Mosaic Trisomy 9	Webbed neck, Micromelia, Finger clinodactyly, Camptodactyly of finger, Intrauterine growth retard...	ORPHA:99776
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce...	ORPHA:186
Fliedner-Zweier Syndrome	Meningocele, Hallux valgus	OMIM:620511
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Autosomal Dominant Optic Atrophy And Cataract	Cataract, Posterior subcapsular cataract, Cerulean cataract, Anterior cortical cataract, Posterio...	ORPHA:67036
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase concentration, Pancreatitis, H...	ORPHA:565612
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Radial deviation of fin...	OMIM:613406
Lead Poisoning	Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology	ORPHA:330015
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Branchiooculofacial Syndrome	Short thumb, Preaxial hand polydactyly, Postnatal growth retardation, Intrauterine growth retarda...	OMIM:113620
Lateral Meningocele Syndrome	Low posterior hairline, Short neck, Meningocele, Umbilical hernia	ORPHA:2789
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, ...	OMIM:306400
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepato...	OMIM:613471
Trisomy 18	Webbed neck, Deviation of finger, Growth delay, Camptodactyly of finger, Intrauterine growth reta...	ORPHA:3380
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T ce...	OMIM:619381
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration...	ORPHA:77293
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic arm shortening, Proximal femoral metaphyseal irregularity, Ea...	ORPHA:397715
Lateral Meningocele Syndrome	Umbilical hernia, Short neck, Hydrocephalus, Short stature, Meningocele	OMIM:130720
Trisomy 20P	Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Preaxial hand polydactyly, Low post...	ORPHA:261318
Nail-Patella Syndrome	Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Patellar aplasia, Talipes equinov...	OMIM:161200
Curry-Jones Syndrome	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio...	OMIM:601707
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, Lymphadenopathy, Anemia	ORPHA:667
Vacterl With Hydrocephalus	Intrauterine growth retardation, Hydrocephalus, Hypoplasia of the radius, Spina bifida, Aqueducta...	ORPHA:3412
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated ci...	ORPHA:91500
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Hemolytic anemia, Splenomegaly	ORPHA:95159
Limb Body Wall Complex	Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s...	ORPHA:2369
Cloacal Exstrophy	Abnormal tibia morphology, Myelomeningocele, Talipes equinovarus, Spina bifida, Abnormal fibula m...	ORPHA:93929
Neu-Laxova Syndrome 1	Broad neck, Hydranencephaly, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Small p...	OMIM:256520
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Intrauterine growth retardation, Postaxial hand polyd...	ORPHA:46059
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Preaxial polydactyly, Occipital meningocele, Postaxial polydactyly, Short neck, Hydro...	OMIM:616546
Sympathetic Ophthalmia	Corneal keratic precipitates, Cataract, Anterior chamber cells, Posterior synechiae of the anteri...	ORPHA:79098
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida, Micromelia, Large hands	ORPHA:2671
Phakomatosis Pigmentokeratotica	Hemiatrophy, Spina bifida	ORPHA:2874
Jacobsen Syndrome	Toe clinodactyly, Webbed neck, Toe syndactyly, Finger syndactyly, Short toe, Long hallux, Intraut...	ORPHA:2308
Fanconi Anemia	Leukopenia, Abnormality of the liver, Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblast...	ORPHA:84
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Camptodactyly of finger,...	ORPHA:2092
Pagod Syndrome	Short stature, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Polydactyly, Short 4th metacarpal, Brachydactyly, Spina bifida...	OMIM:109400
Campomelic Dysplasia	Shortening of all phalanges of fingers, Contracture of the distal interphalangeal joint of the fi...	OMIM:114290
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Preaxial polydactyly, Postnatal growth retardation, Intraut...	OMIM:192350
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Overlapping toe, 2-3 toe ...	ORPHA:508498
Hallermann-Streiff Syndrome	Natal tooth, Spina bifida, Metaphyseal widening, Proportionate short stature	OMIM:234100
Neurofibromatosis, Type I	Tibial pseudarthrosis, Genu valgum, Spina bifida, Hydrocephalus, Short stature, Aqueductal stenosis	OMIM:162200
Craniofacial Microsomia 1	Occipital encephalocele, Genu valgum, Branchial anomaly, Partial duplication of thumb phalanx, Hy...	OMIM:164210
22Q11.2 Deletion Syndrome	Umbilical hernia, Intrauterine growth retardation, Arachnodactyly, Talipes equinovarus, Hand poly...	ORPHA:567
Femoral-Facial Syndrome	Short fifth metatarsal, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Preax...	OMIM:134780
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th...	OMIM:180849
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele, Flexion contracture of finger	ORPHA:1010
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Fibular aplasia, Humeroradial synostosis, Short neck, Aplasia/hypoplasia of the fe...	OMIM:276820
Aicardi Syndrome	Postnatal growth retardation, Proximal placement of thumb, Spina bifida	OMIM:304050
Alkaptonuria	Methemoglobinemia, Hemolytic anemia	ORPHA:56
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Postnatal growth retardation, Arachnodactyly, Spina bifida, Hydrocephal...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Postnatal growth retardation, Arachnodactyly, Spina bifida, Hydrocephal...	ORPHA:363958
Arima Syndrome	Growth delay, Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly	OMIM:243910
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Spina bifida, Torticollis, Tapered finger	OMIM:619480
Cutis Laxa, Autosomal Recessive, Type Ib	Neonatal death, Arachnodactyly, Bowing of the long bones, Spina bifida, Long fingers	OMIM:614437
Holoprosencephaly 9	Alobar holoprosencephaly, Short neck, Hydrocephalus, Postaxial hand polydactyly, Short stature, H...	OMIM:610829
Knobloch Syndrome 1	Spina bifida occulta, Occipital encephalocele, Occipital meningocele	OMIM:267750
Marfan Syndrome	Arachnodactyly, Meningocele	ORPHA:558
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Hereditary Coproporphyria	Hyponatremia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma	ORPHA:79273

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cpox

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cpox.

No publications found that use IMPC mice or data for Cpox.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Cpox^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Cpox^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cpox^em1(IMPC)Bay	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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