Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets |
OMIM:137560 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Myh9-Related Disease |
|
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets... |
ORPHA:182050 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
Fechtner syndrome |
|
Developmental cataract, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets,... |
OMIM:153640 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... |
OMIM:300048 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Photoreceptor layer loss on macular OCT, Anemia, Retinal pigment epithelial at... |
OMIM:616959 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Impaired ristocetin-induced plate... |
OMIM:231200 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... |
ORPHA:2978 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... |
OMIM:143200 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anemia, Melena, Anisocytosis, Poikilocytosis, Abnormal erythro... |
ORPHA:98870 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... |
OMIM:616860 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia |
OMIM:616176 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... |
OMIM:210250 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... |
ORPHA:179 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
High, narrow palate, High palate, Cataract, Hypochromic anemia |
OMIM:257790 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Retinal dystrophy, Cataract |
OMIM:610156 |
Bardet-Biedl Syndrome 18 |
|
Retinal dystrophy, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... |
ORPHA:411527 |
Retinal Venous Beading |
|
Neutropenia, Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjun... |
OMIM:180080 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... |
ORPHA:190 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Stickler Syndrome Type 2 |
|
Cleft palate, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, ... |
ORPHA:90654 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Median cleft palate, Giant platelets, Thrombo... |
OMIM:169400 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... |
OMIM:616468 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy |
OMIM:618220 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia, Developmental cataract, Optic nerve dysplasia, Progressive cataract |
OMIM:246000 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... |
OMIM:614500 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... |
OMIM:263300 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Cataract |
OMIM:204200 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... |
OMIM:212550 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Inflammation of the large intestine, Lymphocytosis |
OMIM:617718 |
Retinitis Pigmentosa 9 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... |
OMIM:180104 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Orotic Aciduria |
|
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... |
OMIM:258900 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Squamous cel... |
OMIM:618849 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Retinitis Pigmentosa 37 |
|
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:611131 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea |
OMIM:616171 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Lathosterolosis |
|
High palate, Anisopoikilocytosis, Schistocytosis, Increased mean platelet volume, Acanthocytosis,... |
OMIM:607330 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... |
ORPHA:71275 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Morm Syndrome |
|
Retinal dystrophy, Cataract, Retinal atrophy |
ORPHA:75858 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... |
OMIM:193230 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iri... |
ORPHA:1473 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... |
OMIM:611040 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Vitreoretinochoroidopathy |
|
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... |
OMIM:193220 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Retinitis Pigmentosa 2 |
|
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312600 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... |
OMIM:305390 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Retinitis Pigmentosa 4 |
|
Cataract, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:613731 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... |
OMIM:177650 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204100 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... |
OMIM:251270 |
Takenouchi-Kosaki Syndrome |
|
Optic atrophy, Increased mean platelet volume, Thrombocytopenia |
OMIM:616737 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia, Cataract |
OMIM:616271 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... |
OMIM:618278 |
Eales Disease |
|
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... |
ORPHA:40923 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persistence of hemoglobin ... |
ORPHA:231226 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation |
OMIM:614292 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Iris hypopigmentation, Cataract |
ORPHA:67048 |
Syndromic Recessive X-Linked Ichthyosis |
|
Acute leukemia, Corneal opacity, Abnormal stomach morphology |
ORPHA:281090 |
Norrie Disease |
|
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... |
OMIM:310600 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Cornea... |
ORPHA:290 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Bifid uvula, Persistence of h... |
OMIM:612561 |
Syndromic Diarrhea |
|
Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hypoplasia of the thymus, Hepato... |
ORPHA:84064 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract, Rod-cone dystrophy |
OMIM:619082 |
Cronkhite-Canada Syndrome |
|
Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption, Splenomegaly,... |
ORPHA:2930 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
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, Malabsorption, Cataract, Retinopathy, Abnormal chorioretinal morphology |
ORPHA:225 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... |
OMIM:193235 |
Ménétrier Disease |
|
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... |
ORPHA:2494 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Exudative Vitreoretinopathy 4 |
|
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... |
OMIM:601813 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy |
OMIM:204000 |
Trichohepatoenteric Syndrome 1 |
|
Thrombocytosis, Increased mean platelet volume, Villous atrophy, Bifid uvula |
OMIM:222470 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Anal atresia |
ORPHA:2310 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Cataract |
ORPHA:2489 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia |
OMIM:313900 |
Srd5A3-Cdg |
|
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Microcytic anemia, Cataract |
ORPHA:324737 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor, Cataract |
OMIM:614186 |
Hemochromatosis, Type 4 |
|
Anemia, Cataract |
OMIM:606069 |
Galactose Epimerase Deficiency |
|
Cataract, Splenomegaly |
ORPHA:79238 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Dysphagia, Corneal scarring, Spontaneous esophageal perforation, Anemia, Esophageal stricture, Ca... |
OMIM:226600 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma |
ORPHA:35737 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Inflammation of the large intes... |
OMIM:600903 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Autosomal Recessive Stickler Syndrome |
|
Cleft palate, Vitreoretinopathy, Retinal detachment, Cataract, Astigmatism |
ORPHA:250984 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Increased fecal coproporphyrin 1, Leukopenia, Erythroid hyperplasia, Increased ... |
ORPHA:79277 |
Isolated Aniridia |
|
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Cataract, Glossitis, Hamartomatous... |
OMIM:175500 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Bifid uvula, Abnormal vitreous humor morphology, Retinal detac... |
OMIM:604841 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract |
ORPHA:65 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Gastric varix, Splenomegaly, Gast... |
ORPHA:64743 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Retinal detachment, Cataract |
OMIM:127200 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... |
ORPHA:67043 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract |
ORPHA:171844 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Optic atrophy, Increased mean platelet volume, Thrombocytopenia |
ORPHA:487796 |
16Q24.3 Microdeletion Syndrome |
|
Dysphagia, High palate, Increased mean corpuscular volume, Thrombocytopenia, Optic nerve hypoplas... |
ORPHA:261250 |
Senior-Loken Syndrome |
|
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract |
ORPHA:3156 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Developmental cataract, High palate, Neutropenia, Elevated red cell adenosine dea... |
ORPHA:124 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Cataract |
OMIM:618805 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Pigmentary retinopathy |
OMIM:268050 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... |
ORPHA:329971 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Cataract, Retinal thinning, Asteroid hyalosis |
OMIM:132450 |
Gastrointestinal Stromal Tumor |
|
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... |
ORPHA:44890 |
Gyrate Atrophy Of Choroid And Retina |
|
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... |
ORPHA:414 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Splenomegaly |
OMIM:608885 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... |
ORPHA:263665 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis |
ORPHA:1068 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Anal atresia |
ORPHA:1381 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
OMIM:601794 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
High palate, Ocular albinism, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormality of... |
ORPHA:2720 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Corneal erosion, Malabsorption, Punctate keratitis, Optic disc coloboma, Abnorma... |
ORPHA:92050 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Rod-cone dystrophy, Retinal coloboma |
ORPHA:363741 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Neoplasm of the larg... |
ORPHA:157798 |
Stickler Syndrome Type 1 |
|
Abnormal vitreous humor morphology, Retinal detachment, Cleft palate, Cataract |
ORPHA:90653 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... |
OMIM:174900 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... |
OMIM:152950 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... |
OMIM:615986 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Cleft palate, Neutropenia, Increased mean corpuscular volume, Esophagitis |
OMIM:612562 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Alg8-Cdg |
|
Optic atrophy, Macroglossia, Anemia, Cataract, Retinopathy, Abnormality of the gastrointestinal t... |
ORPHA:79325 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Peroxisome Biogenesis Disorder 9B |
|
Cataract, Rod-cone dystrophy |
OMIM:614879 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Macroglossia, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Rec... |
ORPHA:309288 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Optic atrophy, Dysphagia, Macrocytic anemia, Temporal optic disc pallor, Morning glory anomaly, C... |
ORPHA:98673 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Macular edema, Abnormal retinal vascular morphology, Reti... |
ORPHA:247691 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... |
OMIM:612109 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
Intermediate Uveitis |
|
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Cystoid macular edema, Epir... |
ORPHA:279914 |
Stromme Syndrome |
|
Cleft palate, Duodenal atresia, Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Jejunal atr... |
OMIM:243605 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
Galactosemia I |
|
Hemolytic anemia, Cataract |
OMIM:230400 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, High palate, Microcytic anemia |
ORPHA:98791 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract |
OMIM:263100 |
Enhanced S-Cone Syndrome |
|
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis |
OMIM:268100 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... |
OMIM:609033 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Aniridia 1 |
|
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... |
OMIM:106210 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatocellular carcinoma, Erythroid hyperplasia, Splenomegaly, Persistence of hemog... |
ORPHA:231222 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Nuclear cataract, Leukocytosis, Optic disc pallor, Normocytic hypoplast... |
OMIM:610377 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Esophageal neoplasm, Cataract |
ORPHA:523 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... |
OMIM:221900 |
Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... |
ORPHA:91495 |
Joubert Syndrome 9 |
|
Retinal dystrophy, Astigmatism, Cataract |
OMIM:612285 |
Griscelli Syndrome |
|
Pyloric stenosis, Leukopenia, Splenomegaly, Iris hypopigmentation, Thrombocytopenia, Abnormality ... |
ORPHA:381 |
Scleroderma |
|
Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stomach morphol... |
ORPHA:801 |
Nance-Horan Syndrome |
|
Microcornea, Retinal detachment, Cataract |
ORPHA:627 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... |
ORPHA:280921 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Mi... |
ORPHA:139471 |
Pseudo-Torch Syndrome 1 |
|
High palate, Thrombocytopenia, Splenomegaly, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly |
ORPHA:664 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Aganglionic megacolon, Macroglossia, Volvulus, Abnormal hemoglobin, Anemia, Gastro... |
ORPHA:847 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Juvenile Sialidosis Type 2 |
|
Optic atrophy, Dysphagia, Cherry red spot of the macula, Hepatosplenomegaly, Corneal opacity, Cat... |
ORPHA:93399 |
Papillorenal Syndrome |
|
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... |
OMIM:120330 |
Hereditary Mucoepithelial Dysplasia |
|
Corneal dystrophy, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Cataract |
ORPHA:1839 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Steatorrhea, Cataract, Band keratopathy, Keratoconjunctivitis |
OMIM:269200 |
Congenital Sialidosis Type 2 |
|
Optic atrophy, Developmental cataract, Hypoplasia of the fovea, Cherry red spot of the macula, He... |
ORPHA:93400 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Neoplasm of the gastrointestinal tract, Leukemia, Pure red cell ... |
ORPHA:99867 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persi... |
ORPHA:231214 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Steatorrhea, Pancytopen... |
OMIM:260400 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, High palate, Hypochromic microcytic anemia, Macroglossia, HbH... |
OMIM:141750 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Zellweger Syndrome |
|
Pyloric stenosis, Optic atrophy, High palate, Posterior embryotoxon, Brushfield spots, Malabsorpt... |
ORPHA:912 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Cleft palate |
OMIM:619074 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Multiple Sulfatase Deficiency |
|
Optic atrophy, Abnormality of retinal pigmentation, Splenomegaly, Corneal opacity, Cataract |
ORPHA:585 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... |
ORPHA:1876 |
Duodenal Neuroendocrine Tumor |
|
Gastrointestinal obstruction, Functional intestinal obstruction, Iron deficiency anemia, Melena, ... |
ORPHA:100076 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Choroideremia, Ocular albinism, Anemia, Corneal opacity, Cataract, Iris hypopigmentation |
ORPHA:2719 |
Proteus-Like Syndrome |
|
Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... |
ORPHA:2969 |
Lathosterolosis |
|
High palate, Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology, Cataract, Opaci... |
ORPHA:46059 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology |
ORPHA:2357 |
Knobloch Syndrome |
|
Pyloric stenosis, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Abnormal vitreous humo... |
ORPHA:1571 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Zonular cataract, Hepatosplenomegaly, Cataract, Spontaneous hemolytic crises |
ORPHA:168577 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Malabsorption, Cataract, Pigmentary retinopathy, Keratoconjunctivitis, Perifoveal ring ... |
OMIM:240300 |
Werner Syndrome |
|
Retinal degeneration, Cataract |
OMIM:277700 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Reticulocytopenia, Lymphopenia, Cataract, Thr... |
ORPHA:508542 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion, Ulcerative colitis |
OMIM:614878 |
Hermansky-Pudlak Syndrome |
|
Abnormality of the optic nerve, Abnormality of thrombocytes, Neutropenia, Ocular albinism, Malabs... |
ORPHA:79430 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Macroglossia, Protruding tongu... |
OMIM:301040 |
Microphthalmia, Syndromic 5 |
|
Cleft palate, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea |
OMIM:610125 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Malabsorption, Splenomegaly, Tracheoesophageal fistula, Abnormality of neutrophils |
ORPHA:379 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Dysphagia, High palate, Cataract, Gastroesophageal reflux |
OMIM:617913 |
Systemic Sclerosis |
|
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... |
ORPHA:90291 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia |
ORPHA:2617 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Perineal fistula, Abnormality of the spleen, Rectovaginal fistula, Esophagitis, Eso... |
ORPHA:2538 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Incontinentia Pigmenti |
|
Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Keratitis, ... |
OMIM:308300 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Cornea... |
OMIM:158310 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Jacobsen Syndrome |
|
Pyloric stenosis, Optic atrophy, Chorioretinal coloboma, Iris coloboma, Macular hypoplasia, Throm... |
OMIM:147791 |
Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
|
Axillary pterygium, Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Cleft palate, Retinal detachment, Cataract, Remnants of the hyaloid vascular... |
ORPHA:2714 |
Dyskeratosis Congenita, X-Linked |
|
Optic atrophy, Pterygium, Leukopenia, Anemia, Acute myeloid leukemia, Esophageal stricture, Catar... |
OMIM:305000 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Intestinal malrotation, Gast... |
OMIM:156810 |
Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesop... |
ORPHA:779 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Choroidal neovascular... |
ORPHA:91500 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Abnormality of the optic nerve, Retrobulbar optic neuritis, X... |
ORPHA:90340 |
Cornelia De Lange Syndrome 1 |
|
Pyloric stenosis, Optic atrophy, High, narrow palate, Cleft palate, High palate, Thrombocytopenia... |
OMIM:122470 |
Hardikar Syndrome |
|
Bilateral cleft lip and palate, Esophageal varix, Celiac disease, Cleft soft palate, Gastric vari... |
OMIM:301068 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... |
ORPHA:141127 |
Metachromatic Leukodystrophy |
|
Abnormal duodenum morphology, Intussusception, Neoplasm of the gallbladder, Abnormal stomach morp... |
ORPHA:512 |
Jacobsen Syndrome |
|
Pyloric stenosis, Duodenal atresia, Ectopic anus, Abnormality of the anus, Intestinal malrotation... |
ORPHA:2308 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Sclerocornea, Iris coloboma, Anal atresia, Cataract, Pigmentary retinopathy, Anteriorly placed anus |
OMIM:309801 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Harrod Syndrome |
|
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... |
OMIM:601095 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, ... |
ORPHA:67036 |
Esophageal Atresia |
|
Pyloric stenosis, Dysphagia, Cleft palate, Duodenal atresia, Morphological abnormality of the gas... |
ORPHA:1199 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Intestinal atresia, Congenital pyloric atresia, Pterygium |
ORPHA:79403 |
Viss Syndrome |
|
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... |
OMIM:619472 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Williams Syndrome |
|
Blue irides, Retinal arteriolar tortuosity, Flat cornea, Rectal prolapse, Posterior embryotoxon, ... |
ORPHA:904 |
Mowat-Wilson Syndrome |
|
Pyloric stenosis, Cleft palate, Chorioretinal coloboma, Aganglionic megacolon, Abnormality of ent... |
OMIM:235730 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
Microphthalmia, Syndromic 1 |
|
Pyloric stenosis, High, narrow palate, Rectal prolapse, Chorioretinal coloboma, High palate, Agan... |
OMIM:309800 |