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Gene: Cdk5rap3 MGI:1933126

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Gene Summary

Name:
CDK5 regulatory subunit associated protein 3
Synonyms:
HSF-27,  C53,  OK/SW-cl.114,  1810007E24Rik,  IC53,  MST016

Order Alleles

IMPC Data Collections

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
cataract Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 7.90×10-05
persistence of hyaloid vascular system Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 1.74×10-05
increased fasting circulating glucose level Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 2.30×10-05
abnormal lens morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 4.20×10-05
decreased exploration in new environment Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 1.78×10-06
preweaning lethality, complete penetrance Cdk5rap3tm1b(EUCOMM)Hmgu HOM   Early adult 3.20×10-10
decreased cardiac stroke volume Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 5.29×10-06
abnormal retina blood vessel morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 6.58×10-09
abnormal vitreous body morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET   Early adult 2.54×10-07
abnormal retina vasculature morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 4.66×10-10
abnormal retina morphology Cdk5rap3tm1b(EUCOMM)Hmgu HET Early adult 5.42×10-09

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Electrocardiogram (ECG)

Waveform Image

44 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Human diseases caused by Cdk5rap3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdk5rap3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Bardet-Biedl Syndrome 18
Cognitive impairment, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Intrauterine growth retardation, Hypertension OMIM:189800
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... OMIM:600803
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Morm Syndrome
Aggressive behavior, Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... ORPHA:79302
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Macu... ORPHA:891
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia OMIM:300752
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Retinal dystrophy, Ir... ORPHA:231736
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Elevated circul... OMIM:619662
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Concentric hypertrophic cardiomyopathy, Rod-cone dyst... OMIM:204200
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... OMIM:224100
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hepatic fibrosis, Hepat... OMIM:614480
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Nathalie Syndrome
Arrhythmia, Cataract ORPHA:2663
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia, C... OMIM:613313
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Growt... OMIM:615234
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Atransferrinemia
Congestive heart failure, Abnormality of the liver, Hypochromic anemia OMIM:209300
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly, Intrauterine growth retardation OMIM:613861
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... ORPHA:567983
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Cataract ORPHA:79281
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Anxiety, Retinal thinning, Hyperglycemia OMIM:618970
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Tractional retinal detachment, Retinal exu... OMIM:613310
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin... OMIM:266200
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase... ORPHA:480520
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Elevated circulating alkaline phosph... ORPHA:30391
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Progressive cataract, Optic nerve dysplasia OMIM:246000
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Retinal neovascularization, Retinal infar... OMIM:180080
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Decreased acid sphingomyelinase activity, Splenomegaly, Sho... OMIM:607616
Persistent Hyperplastic Primary Vitreous
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... ORPHA:91495
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Abnormal anterior cham... ORPHA:94058
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... OMIM:620010
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Maternally-Inherited Diabetes And Deafness
Macular dystrophy, Type II diabetes mellitus, Retinopathy, Arrhythmia, Abnormal chorioretinal mor... ORPHA:225
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia ORPHA:79278
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... ORPHA:3202
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma ORPHA:35737
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Postnatal growth retardation, ... OMIM:232700
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hep... ORPHA:848
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... OMIM:613470
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic... OMIM:208540
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Astigmatism, Peripapil... OMIM:616188
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Remnants of the hyaloid vascular system, Shallow anterior chamber, Buphthalmos, ... OMIM:221900
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy, Cardiomyopathy, Hypergly... OMIM:520000
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Dementia, Cataract, Cognitive impairment ORPHA:329314
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... OMIM:619868
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Ch... OMIM:617156
Infantile Liver Failure Syndrome 1
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... OMIM:615438
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Developmental cataract, Ocular anterior segment dysgenesis, Coloboma ORPHA:324416
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Arrhythmia, Thrombocytopenia, Hypertension, Sideroblastic anemia, Intra... OMIM:617021
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Hypertrophic cardiomyopathy, Elevated hepatic transaminase, Growth delay, Siderobla... OMIM:613561
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Trimethylaminuria
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia OMIM:602079
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, R... OMIM:224120
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Elevated hepatic transaminase, Anemia, Thrombocyto... ORPHA:858
Preeclampsia
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated hepatic transa... ORPHA:275555
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... OMIM:278000
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrauterine growth retardation, Elevated hepatic transaminase, Postnat... OMIM:617093
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Senior-Loken Syndrome
Hypertension, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc colob... OMIM:120200
Retinitis Pigmentosa 86
Cystoid macular edema, Bone spicule pigmentation of the retina, Nummular pigmentation of the fund... OMIM:618613
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Leber Congenital Amaurosis 1
Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc drusen, Fundus atrophy, ... OMIM:204000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:603552
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Neutropenia, Anemia, Cardiomyopathy OMIM:604250
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Cataract, Chorioretinal degeneration,... OMIM:312600
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Hepatic failure OMIM:177000
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Short stature, Hepatomega... OMIM:613673
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... OMIM:214900
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Posterior subcapsular cataract, Rod-cone dystrophy OMIM:617304
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, Aplastic anemia... ORPHA:398124
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Glycogen Storage Disease Vii
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... OMIM:232800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Mirizzi Syndrome
Cholelithiasis, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase concentration, ... ORPHA:521219
Trichomegaly
Cataract OMIM:190330
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Arrhythmia, Anemia, Hepatic steatosis, Cardiomyopathy OMIM:606069
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy OMIM:267760
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Elevated circulating aspartate aminotransferase c... OMIM:614034
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferat... OMIM:267010
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Growth delay, Hepatomegaly, Short stature, Increased hepatic glycogen content, Cirrhosis, Hepatoc... ORPHA:369
Beta-Thalassemia Intermedia
Cholelithiasis, Hypoparathyroidism, Decreased liver function, Anemia of inadequate production, He... ORPHA:231222
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... ORPHA:562639
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Bardet-Biedl Syndrome 9
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Astigmatism, Cata... OMIM:615986
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy OMIM:601794
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Retinal coloboma, Cataract, Rod-cone dystrophy ORPHA:363741
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abno... ORPHA:79303
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Cardiomyopathy OMIM:610717
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Isolated Aniridia
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Retinopathy, Cataract OMIM:183800
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... OMIM:618805
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Leber Congenital Amaurosis
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Alpha-Heavy Chain Disease
Growth delay, Anemia, Hepatomegaly, Splenomegaly ORPHA:100025
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Uveal Melanoma
Inferior lens subluxation, Vitreous hemorrhage, Iris melanoma, Zonular cataract, Ciliary body mel... ORPHA:39044
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal vascular morphology, Type... ORPHA:791
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Short stature, Anisocytosis, Elevated hepatic transami... ORPHA:98870
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Cataract, Retinal dystrophy, Cognitive impairment OMIM:614877
Glycogen Storage Disease Xii
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Short stature, Normo... OMIM:611881
Mu-Heavy Chain Disease
Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly ORPHA:100024
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613812
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Prolonged neonatal jaundice, Bile duct proliferation,... OMIM:301068
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature ORPHA:3319
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Geograp... OMIM:180105
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocyt... OMIM:611490
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... OMIM:619902
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Intrauterine growth retardation, Hypertrophic cardiomyopathy ORPHA:295
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Epistaxis, Jaundice, Intrah... OMIM:211600
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality ORPHA:79168
Autosomal Recessive Polycystic Kidney Disease
Growth delay, Cholangiocarcinoma, Hepatoblastoma, Periportal fibrosis, Splenomegaly, Hypertension... ORPHA:731
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:612572
Intermediate Uveitis
Optic neuritis, Band keratopathy, Cystoid macular edema, Macular edema, Vasculitis, Cataract, Epi... ORPHA:279914
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Increased circulating lactate dehyd... ORPHA:3203
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Aniridia 1
Glucose intolerance, Corneal neovascularization, Ectopia pupillae, Optic nerve hypoplasia, Opacif... OMIM:106210
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated gamma-glutamyltransferase le... OMIM:618329
Autosomal Recessive Stickler Syndrome
Retinal detachment, Cataract, Vitreoretinopathy, Astigmatism ORPHA:250984
Retinitis Pigmentosa 56
Nuclear cataract, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopath... OMIM:613581
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Meckel Syndrome, Type 2
Bile duct proliferation, Intrauterine growth retardation OMIM:603194
Transaldolase Deficiency
Telangiectasia, Cirrhosis, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:101028
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Growth delay, Anemia, Bone-marrow foam cells ORPHA:75233
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Jaundice OMIM:618528
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemi... OMIM:612840
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Microcoria, Cataract, Retinal dystrophy OMIM:263100
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Gastrointe... ORPHA:1414
Majeed Syndrome
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... OMIM:609628
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Corneal opacity, Myopic astigmatism, Retinal detachment, Microcornea, Astigmatism, Optic atrophy,... OMIM:152950
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Neonatal death, Anemia, Hypertrophic cardiomyopathy, Intrauterine growt... OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Neonatal death, Anemia, Intrauterine growth retardation, Cardiomyopathy OMIM:618839
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Short stature, Neutropenia OMIM:618752
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration, Marginal corneal dystrophy OMIM:210370
Flynn-Aird Syndrome
Cataract, Rod-cone dystrophy, Dementia OMIM:136300
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy, Developmental cataract OMIM:616722
Peroxisome Biogenesis Disorder 9B
Cataract, Cardiomyopathy, Rod-cone dystrophy OMIM:614879
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice OMIM:618549
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract, Cognitive impairment ORPHA:3437
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia ORPHA:37748
Rh Deficiency Syndrome
Hypochromia, Intrauterine growth retardation, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Ta... ORPHA:71275
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l... ORPHA:210136
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... OMIM:612714
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly OMIM:613490
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619525
Enhanced S-Cone Syndrome
Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Cataract, Retinoschisis OMIM:268100
Meckel Syndrome, Type 4
Bile duct proliferation, Intrauterine growth retardation OMIM:611134
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Hyperte... OMIM:603903
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Elevated hepatic transami... ORPHA:507
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Posterior subcap... OMIM:602772
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Wilson Disease
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Thrombocytopenia, Elevated ... ORPHA:905
Rhabdoid Tumor
Neoplasm of the liver, Internal hemorrhage, Hypertension, Anemia, Thrombocytopenia ORPHA:69077
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Hypertrophic cardiomyopathy, Cataract ORPHA:3173
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:235555
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy, Arrhythmia, Cataract, Cardiomyopathy, Congestive heart ... OMIM:266500
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... OMIM:165550
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Congenital Rubella Syndrome
Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Short stature, Anemia, Thrombocytope... ORPHA:290
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:27
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Intrauterine growth retardation, Short stature, Cirrhosis, Cholestasis,... OMIM:613658
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Elevated hepatic transaminase OMIM:246900
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Meckel Syndrome, Type 6
Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cystic liver disease OMIM:612284
Transaldolase Deficiency
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cir... OMIM:606003
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepatic tran... ORPHA:300298
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Apathy, Abnormal retinal vascular morphology, Raynaud phenomenon, Hypertension, Cognitive impairm... ORPHA:247691
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Incre... ORPHA:824
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Splenomegaly OMIM:306000
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Mental deterioration, Retinopathy, I... ORPHA:2611
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Mental deterioration, Cataract, Macular degeneration OMIM:619780
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Glycogen Storage Disease Iii
Hepatomegaly, Short stature, Elevated hepatic transaminase, Hepatic fibrosis, Cardiomyopathy OMIM:232400
Myh9-Related Disease
Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volume, Elevate... ORPHA:182050
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the pancreas, Elevated hepatic transaminase, Anemia, Liver abscess, ... ORPHA:54251
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice ORPHA:890
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Pulmonic stenosis, Cholestasis, Elevated hepatic transaminase, Portal f... OMIM:614300
Macrophage Activation Syndrome
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated cir... ORPHA:158061
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly, Neutropenia, Growth delay, Anemia, Thrombocytopenia ORPHA:289916
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Hepatomegaly, Intrahepat... OMIM:605479
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Pierson Syndrome
Remnants of the hyaloid vascular system, Uveal ectropion, Retinal detachment, Retinal hemorrhage,... OMIM:609049
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Tachycardia, Epistaxis, Hypotension, Increased circulatin... ORPHA:91547
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Jaundice, Intrahepatic cholestasis, Abnormal liver function tests ... OMIM:147480
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hepatosplenomegaly, Elevated hepatic transaminase, Microcytic anemia, Hypopituitar... OMIM:619013
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency ORPHA:309108
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Neonatal death, Cholestasis, Cryptorchidism, Thro... OMIM:608104
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... OMIM:613489
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Telangiectasia, Spontaneous, recurrent epistaxis, Portal hypertension OMIM:615506
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Hepatic... ORPHA:774
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Short stature, Cholestasis, Elevated hepatic t... OMIM:618641
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Elevated circulating alkaline phosphatase concentration, A... ORPHA:98850
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Bleeding Disorder, Platelet-Type, 19
Anemia, Epistaxis, Macrothrombocytopenia OMIM:616176
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Posterior subca... OMIM:613810
Congenital Bile Acid Synthesis Defect Type 4
Type II diabetes mellitus, Mental deterioration, Pigmentary retinopathy, Memory impairment, Hemat... ORPHA:79095
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Retinal thinning, Cataract, Asteroid hyalosis OMIM:132450
Gyrate Atrophy Of Choroid And Retina
Subcapsular cataract, Chorioretinal hyperpigmentation, Abnormal macular morphology, Chorioretinal... ORPHA:414
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal enzyme/coenzyme activity ORPHA:51208
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Bradycardia, Thrombocytopenia, Intrauterine growth r... OMIM:618775
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Cataract, Hypertension, Hypertrophic cardiomyopathy, Congestive h... ORPHA:1345
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Achondrogenesis Type 2
Retinal detachment, Lens subluxation, Cataract, Abnormal vitreous humor morphology ORPHA:93296
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:79312
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Dilated cardiomyopathy, Cataract, Retinal dysplasia ORPHA:272
Budd-Chiari Syndrome
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Coloboma OMIM:120433
Gaucher Disease, Type I
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... OMIM:230800
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short stature, Polycystic liver disease, Pancreatic fibrosis, Pulmonary insufficiency, Hepatic fi... OMIM:208500
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Iris hypopigmentation, Cataract, Cardiomyopathy ORPHA:67048
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ca... OMIM:615184
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... OMIM:607765
Hydrops Fetalis, Nonimmune
Anemia, Congestive heart failure OMIM:236750
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Nance-Horan Syndrome
Retinal detachment, Cataract, Microcornea ORPHA:627
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Bile duct proliferation, ... OMIM:261515
Coach Syndrome 2
Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypertension, Porta... OMIM:619111
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase OMIM:613280
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Abnormality of retinal pigmentation, Cataract, Type II diabetes mellitus ORPHA:3085
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Hypoplasia of the thymus, Peritoneal abscess, Hepatitis, Autoimm... ORPHA:436252
Retinitis Pigmentosa 74
Optic disc pallor, Posterior polar cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Cog4-Cdg
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:263501
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment, Cataract OMIM:615181
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulating lactate dehydrogenase conce... OMIM:600649
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Hypertrophic cardiomyopathy, Elevated hepatic ... OMIM:611126
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rod-cone dystrophy, Glycosuria, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigmenta... OMIM:268315
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Growth delay, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Short stature, Cirrh... ORPHA:264580
Triosephosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, Macrocytic anemia, Hemolytic anem... OMIM:615512
Spherocytosis, Type 2
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:616649
Cranioectodermal Dysplasia 2
Hepatomegaly, Splenomegaly, Short stature, Cholestasis, Elevated hepatic transaminase, Rhizomelia... OMIM:613610
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Growth delay, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocel... ORPHA:370
Bone Marrow Failure Syndrome 5
Anemia, Testicular atrophy, Pure red cell aplasia, Short stature OMIM:618165
Spherocytosis, Type 4
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:612653
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria ORPHA:2714
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Systolic hear... OMIM:619991
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... OMIM:615486
Elliptocytosis 3
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... OMIM:617948
Cataract 16, Multiple Types
Posterior polar cataract, Developmental cataract, Retinal dystrophy OMIM:613763
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Anemia OMIM:614742
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia ORPHA:318
Propionic Acidemia
Neutropenia, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Short stature, Propionyl-CoA carb... OMIM:606054
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Short stature, Severe postnatal growth retardation, Cholestasis, Hypoc... ORPHA:440713
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Bone spic... ORPHA:364055
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Subcapsular cataract, Cataract, Rod-cone dystrophy OMIM:612674
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut... OMIM:619484
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Short stature, Pancytopenia OMIM:616435
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Arrhythmia, ... OMIM:235200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Anisocoria, Cataract, Temporal optic disc pallor OMIM:619649
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Pulmonary hemorrhage, T lymphocytopenia, Elevated hepatic trans... ORPHA:79124
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Coats Disease
Exudative retinal detachment, Retinal telangiectasia, Leukocoria OMIM:300216
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Biliary tract obstruction, Pulmonary arterial ... ORPHA:77259
Woolly Hair
Abnormal retinal morphology, Abnormal pupil morphology, Cataract ORPHA:170
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Chylomicron Retention Disease
Acanthocytosis, Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Growth de... ORPHA:71
Solute carrier family 4 (anion exchanger), member 1
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Infantile Refsum Disease
Rod-cone dystrophy, Arrhythmia, Optic atrophy, Cataract, Cardiomyopathy ORPHA:772
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Elevated circulating alk... ORPHA:400
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-... OMIM:613011
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Coloboma, Peters anomaly, Cataract, Posterior s... OMIM:610256
Chromosome Xp11.3 Deletion Syndrome
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Pigment... OMIM:300578
Srd5A3-Cdg
Rod-cone dystrophy, Coloboma, Optic atrophy, Cataract, Optic disc hypoplasia ORPHA:324737
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Sudden cardiac death, Arrhythmia, Elevated hepatic transaminase, H... ORPHA:156
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Leukopenia, Cholestasis, Abnormal macrophage morphology, Myocardit... ORPHA:292
Isolated Ectopia Lentis
Cognitive impairment, Ectopia pupillae, Cataract, Hypertension, Ectopia lentis ORPHA:1885
Prolidase Deficiency
Hepatomegaly, Diffuse telangiectasia, Splenomegaly, Elevated circulating aspartate aminotransfera... OMIM:170100
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly OMIM:611804
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... OMIM:614643
Posterior Column Ataxia With Retinitis Pigmentosa
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic atrophy, ... OMIM:609033
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Growth delay, Anemia OMIM:607115
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Cholestasis, Hematochezia, Elevated hepatic transaminas... OMIM:615895
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated circulating aspar... OMIM:619534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Dubin-Johnson Syndrome
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:234
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia, Increased circ... OMIM:105600
Senior-Boichis Syndrome
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Reduced n... ORPHA:84081
Idiopathic Panuveitis
Cystoid macular edema, Cataract, Choroidal neovascularization, Epiretinal membrane, Vitreous floa... ORPHA:280921
Dilated Cardiomyopathy With Ataxia
Growth delay, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated hepatic t... ORPHA:66634
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Cirrhosis... OMIM:300972
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Acute hepatic failure, Hypertrophic cardiomyopathy, Sudden cardiac death, ... ORPHA:99901
Muscle-Eye-Brain Disease
Optic atrophy, Cataract, Cognitive impairment ORPHA:588
Neuroendocrine Tumor Of Stomach
Melena, Hepatomegaly, Hematemesis, Tricuspid regurgitation, Hepatic failure, Right ventricular fa... ORPHA:100075
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Severe B lymphocytopenia, B lymphocytopenia, Pancreatic hypoplasia,... ORPHA:83617
Primary Hepatic Neuroendocrine Carcinoma
Elevated alkaline phosphatase of hepatic origin, Neoplasm of the liver, Hepatomegaly, Intrahepati... ORPHA:100085
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated ... ORPHA:367
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Phacoanaphylactic Uveitis
Keratitis, Pseudophakia, Hypopyon, Vitritis, Abnormal pupil morphology, Cystoid macular edema, Co... ORPHA:209959
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Amoebiasis Due To Entamoeba Histolytica
Elevated circulating alkaline phosphatase concentration, Leukocytosis, Constrictive pericarditis,... ORPHA:67
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Lymphocytosis, Acute hepatic failure, Short stat... ORPHA:1667
Intermediate Osteopetrosis
Anemia, Hepatosplenomegaly, Elevated circulating alkaline phosphatase concentration ORPHA:210110
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia, Retinal detachment, Leukocoria OMIM:219250
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microcornea, Retinal dystrophy, Coloboma, Cataract OMIM:610125
Microphthalmia With Brain And Digit Anomalies
Microcornea, Retinal dystrophy, Iris coloboma, Cataract, Sclerocornea, Chorioretinal coloboma ORPHA:139471
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Ovarian neoplasm, Testicular neoplasm, Abnormality of the... ORPHA:83469
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Short stature, Persistence of hemog... OMIM:260400
Duodenal Neuroendocrine Tumor
Melena, Elevated circulating growth hormone concentration, Extrahepatic cholestasis, Increased he... ORPHA:100076
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia