| Adie Pupil |
|
Tonic pupil |
OMIM:103100 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract |
ORPHA:39044 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Microcoria, Congenital |
|
Miosis, Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... |
OMIM:261000 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Intrauteri... |
OMIM:617021 |
| Iatrogenic Botulism |
|
Mydriasis |
ORPHA:254509 |
| Wound Botulism |
|
Mydriasis |
ORPHA:178475 |
| Inhalational Botulism |
|
Mydriasis |
ORPHA:254504 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia |
OMIM:612840 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Foodborne Botulism |
|
Mydriasis |
ORPHA:228371 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis |
OMIM:254450 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Infant Botulism |
|
Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
| Miller Fisher Syndrome |
|
Mydriasis, Anisocoria |
ORPHA:98919 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... |
ORPHA:822 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia |
OMIM:259710 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor, Atrial septal defect, Ventricular septal defect |
ORPHA:49827 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Endocardial fibroelastosis, Pallor, Patent foramen ovale, Perica... |
ORPHA:60041 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Growth delay, Pallor |
OMIM:613561 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Growth delay, Pallor |
OMIM:500007 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Serotonin Syndrome |
|
Mydriasis |
ORPHA:43116 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology |
ORPHA:170 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Pituitary Apoplexy |
|
Mydriasis |
ORPHA:95613 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Growth delay, Pallor |
OMIM:615631 |
| Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Arachnoid Cyst |
|
Mydriasis |
ORPHA:2356 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis |
OMIM:259720 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Rheumatic Fever |
|
Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... |
ORPHA:3099 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259730 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:848 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:613839 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ... |
OMIM:609053 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Anisocoria |
ORPHA:79138 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis |
OMIM:619351 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis |
ORPHA:79303 |
| Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Intrauterine growth retardation, Large placenta... |
ORPHA:499009 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Phacoanaphylactic Uveitis |
|
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... |
ORPHA:209959 |
| Cocaine Intoxication |
|
Mydriasis |
ORPHA:90068 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... |
OMIM:106210 |
| Scorpion Envenomation |
|
Miosis, Mydriasis |
ORPHA:466677 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... |
OMIM:602482 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
| Short Syndrome |
|
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... |
ORPHA:3163 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| American Trypanosomiasis |
|
Myocarditis, Pallor, Cardiomyopathy |
ORPHA:3386 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Delayed puberty, Pallor, Growth delay |
OMIM:600462 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
| Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Pallor |
ORPHA:99931 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
| Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... |
OMIM:180500 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia |
ORPHA:2169 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria |
OMIM:619649 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia |
OMIM:620367 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Tarp Syndrome |
|
Intrauterine growth retardation, Extramedullary hematopoiesis |
ORPHA:2886 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Short stature, Intrauterine growth retardation, Pallor |
OMIM:301310 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... |
ORPHA:811 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Proteus-Like Syndrome |
|
Heterochromia iridis, Cataract, Abnormal pupil morphology, Limbal dermoid |
ORPHA:2969 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Pallor |
OMIM:617675 |
| Plague |
|
Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Slow pupillary light response, Tonic pupil, Anisocoria |
ORPHA:90658 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Neutropenia, Thrombocy... |
OMIM:600901 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Distal Deletion 6P |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... |
ORPHA:96125 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Abnormal pupil shape, Slow pupillary light response, Miosis, Anisocoria |
ORPHA:45358 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Neutropenia, Thrombocy... |
OMIM:227650 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
| Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulo... |
OMIM:227645 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Familial Dysautonomia |
|
Heterochromia iridis, Abnormal pupil morphology, Corneal erosion, Corneal opacity |
ORPHA:1764 |
| Alagille Syndrome |
|
Keratoconus, Abnormal pupil morphology, Corneal dystrophy |
ORPHA:52 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Duane Retraction Syndrome |
|
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... |
ORPHA:233 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Sepsis In Premature Infants |
|
Purpura, Petechiae, Pallor |
ORPHA:90051 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Pallor |
ORPHA:20 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Growth delay |
ORPHA:329971 |
| Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Astigmatism, Ectopia pupillae |
OMIM:618727 |
| Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
| Waldenström Macroglobulinemia |
|
Purpura, Pallor |
ORPHA:33226 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor |
OMIM:606812 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane |
OMIM:257850 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Persistent pupillary membrane, Peters anomaly, Buphthalmos |
OMIM:613150 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Prolactinoma |
|
Delayed puberty, Pallor |
ORPHA:2965 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
| Incontinentia Pigmenti |
|
Short stature, Erythema, Pallor |
OMIM:308300 |
| Esophageal Atresia |
|
Tetralogy of Fallot, Growth delay, Pallor, Ventricular septal defect |
ORPHA:1199 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Pallor, Ventricular septal defect |
ORPHA:137675 |
| Knobloch Syndrome 1 |
|
Band keratopathy, Chorioretinal atrophy, Slow pupillary light response, Cortical cataract, Develo... |
OMIM:267750 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
| Degcags Syndrome |
|
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Dysplas... |
OMIM:619488 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor |
OMIM:277400 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Neutropenia, Thrombocy... |
OMIM:227646 |
| Lead Poisoning |
|
Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology |
ORPHA:330015 |
| Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Pallor, Myocardial eosinophilic infiltration |
ORPHA:3260 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty, Pallor |
ORPHA:91347 |
| Trichinellosis |
|
Conjunctival hyperemia, Conjunctivitis, Abnormal uvea morphology, Anisocoria |
ORPHA:863 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
OMIM:608940 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Abnormal pulmonary valve morphology, Pallor |
ORPHA:667 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Von Hippel-Lindau Disease |
|
Myocarditis, Pallor, Cardiomyopathy |
ORPHA:892 |
| Neuroblastoma |
|
Anemic pallor |
ORPHA:635 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Cataract, Abnormal pupil morphology, Corneal opacity, Chorioretinal dysplasia, Bupht... |
ORPHA:534 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Abnormal pupillary light reflex, Anisocoria |
ORPHA:99949 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Pallor |
ORPHA:544482 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
| Revesz Syndrome |
|
Leukocoria, Megalocornea |
OMIM:268130 |
| Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... |
ORPHA:649 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... |
OMIM:175780 |
| Retinoblastoma |
|
Heterochromia iridis, Leukocoria, Hypopyon, Uveitis |
ORPHA:790 |
| Scalp-Ear-Nipple Syndrome |
|
Cataract, Anisocoria, Iris coloboma, Developmental cataract |
OMIM:181270 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae |
OMIM:618223 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria |
OMIM:618653 |
| Superficial Siderosis |
|
Anisocoria |
ORPHA:247245 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
ORPHA:1556 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Iris coloboma, Ectopia pupillae |
OMIM:194190 |
| Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Chorioretinal coloboma, Ectopia pupillae, Iris coloboma |
OMIM:235730 |
| Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
| Witteveen-Kolk Syndrome |
|
Cataract, Anisocoria, Iris coloboma |
OMIM:613406 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Cataract, Microcornea, Ectopia pupillae, Abnormal pupil morphology, Axenfeld anomaly, Astigmatism... |
ORPHA:261552 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Sponastrime Dysplasia |
|
Cataract, Microcoria, Congenital aphakia |
ORPHA:93357 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Abnormal pupil morphology |
ORPHA:286 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
|
OMIM:609129 |
