| Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Tietz Albinism-Deafness Syndrome |
|
Blue irides, Hypopigmentation of the fundus, Generalized hypopigmentation, White eyelashes, White... |
OMIM:103500 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Horner Syndrome, Congenital |
|
Deeply set eye, Congenital Horner syndrome, Heterochromia iridis |
OMIM:143000 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153300 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Waardenburg Syndrome, Type 2F |
|
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... |
OMIM:619947 |
| Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Epicanthus, Upslanted palpebral fissure, Optic atrophy, Ptosis |
OMIM:620086 |
| Progressive Hemifacial Atrophy |
|
Ptosis, Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis |
ORPHA:1214 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Epiretinal membrane, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ... |
ORPHA:98963 |
| Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153200 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Follicular Lymphoma |
|
Lymphadenopathy, Lymphedema, Mediastinal lymphadenopathy, Pleural effusion, Splenomegaly |
ORPHA:545 |
| Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... |
ORPHA:98962 |
| Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... |
ORPHA:98969 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Macular dystrophy, Corneal dyst... |
OMIM:217800 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation o... |
OMIM:126070 |
| Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:133100 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:613265 |
| Megalocornea |
|
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Retinal detachment, ... |
OMIM:309300 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... |
ORPHA:98960 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Genital edema, Facial edema, Abnormal lymphatic vessel morph... |
ORPHA:568051 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia |
OMIM:606574 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal dystrophy, Palpebral edema, Corneal opacity, Opacification of the cornea... |
OMIM:608470 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... |
OMIM:617319 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Abnormal iris pigmentation... |
ORPHA:370097 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Oculocutaneous Albinism Type 1 |
|
Blue irides, Hypoplasia of the fovea, Depigmented fundus, Iris hypopigmentation, Generalized hypo... |
ORPHA:352731 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
| Meige Disease |
|
Edema of the dorsum of hands, Periorbital edema, Facial edema, Laryngeal edema, Pedal edema, Lymp... |
ORPHA:90186 |
| Cherubism |
|
Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil, Macular scar |
OMIM:118400 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen... |
OMIM:619165 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions |
ORPHA:99000 |
| Lymphatic Malformation 1 |
|
Nonimmune hydrops fetalis, Hyperkeratosis over edematous areas, Predominantly lower limb lymphede... |
OMIM:153100 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Pericardial effusion, Lymphedema, Ab... |
ORPHA:1041 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
| Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Abnormal anterior chamber morph... |
ORPHA:69736 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Ptosis, Hypopigmentation of hair, White fo... |
ORPHA:895 |
| Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Chylous Ascites |
|
Lymphedema, Ascites |
ORPHA:1160 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
| Waardenburg Syndrome, Type 2A |
|
Synophrys, Premature graying of hair, Hypoplastic iris stroma, Albinism, Numerous pigmented freck... |
OMIM:193510 |
| Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... |
OMIM:277580 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Oliver-Mcfarlane Syndrome |
|
Long eyelashes, Central heterochromia, Pigmentary retinopathy, Retinal degeneration, Long eyebrows |
OMIM:275400 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Freckling, Iris hypopigmentation, Optic nerve misrouting, Generalized hypopigmentati... |
ORPHA:79433 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Abnormal retinal vascular morphology, Synophrys, Downslanted palpebral fissures, Hete... |
ORPHA:1390 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Corneal crystals |
OMIM:219900 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:263400 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Marginal corneal dystrophy, Corneal crystals, Retinal degeneration |
OMIM:210370 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyelash morphology, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal ey... |
ORPHA:2885 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Lymphatic Malformation 4 |
|
Lymphedema, Pedal edema |
OMIM:615907 |
| Limbal Stem Cell Deficiency |
|
Corneal perforation, Blepharospasm, Opacification of the corneal epithelium, Corneal scarring, Co... |
ORPHA:171673 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Hyperkalemia |
OMIM:240200 |
| Frontofacionasal Dysplasia |
|
Cataract, Brushfield spots, Telecanthus, Iris coloboma, Upper eyelid coloboma, Absent inner eyela... |
ORPHA:1791 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Pontocerebellar Hypoplasia Type 10 |
|
Long eyelashes, Highly arched eyebrow, Long palpebral fissure, Proptosis, Optic atrophy |
ORPHA:411493 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Hyperuricemia, Anemia, Diabetes mellitus, Increased blood urea nitrogen, Thrombocytop... |
OMIM:613845 |
| Kleeblattschaedel |
|
Recurrent corneal erosions, Proptosis |
OMIM:148800 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Autosomal Dominant Keratitis |
|
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... |
ORPHA:2334 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema |
OMIM:616006 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Acute Zonal Occult Outer Retinopathy |
|
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Re... |
ORPHA:284454 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor, Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Pulmonary edema, L... |
OMIM:617300 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Cholestasis-Lymphedema Syndrome |
|
Lymphedema, Splenomegaly |
OMIM:214900 |
| Aniridia 1 |
|
Cataract, Ectopia pupillae, Hypoplasia of the fovea, Ectopia lentis, Retinal vascular tortuosity,... |
OMIM:106210 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Aplasia/Hypop... |
ORPHA:1067 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... |
ORPHA:98964 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyperplasia, Sple... |
OMIM:237800 |
| Peters Anomaly |
|
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... |
OMIM:225200 |
| Campomelia, Cumming Type |
|
Lymphedema, Polysplenia |
OMIM:211890 |
| Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hyponatremia, Hypoglycemic seizures, Hyperkalemia |
ORPHA:199296 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Juvenile Xanthogranuloma |
|
Uveitis, Blepharitis, Iritis, Multiple cafe-au-lait spots, Proptosis, Hyphema, Asymmetry of iris ... |
ORPHA:158000 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Iris transillumination de... |
ORPHA:79432 |
| Frias Syndrome |
|
Downslanted palpebral fissures, Proptosis, Ptosis, Hypertelorism |
OMIM:609640 |
| Waardenburg Syndrome, Type 3 |
|
Blue irides, Hypopigmented skin patches, Synophrys, Premature graying of hair, Partial albinism, ... |
OMIM:148820 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pleural effusion, Hydrops fetalis, Palpebral edema, Abnormality of the lymphatic system, Predomin... |
ORPHA:69735 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Diabet... |
OMIM:618858 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
| Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Cataract, Macular atrophy, Optic disc pallor, Proptosis, Retinopathy, Optic atrophy, Microcornea |
OMIM:616171 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi... |
ORPHA:398063 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Hypertension, Optic disc pallor, Abnormality of macular pigmentation, Trem... |
ORPHA:97229 |
| Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
| Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Retinal detachment, Optic atrophy, Chorioretinal coloboma, Corneal opaci... |
ORPHA:1473 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Freckles in sun-exposed are... |
OMIM:203200 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:620152 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
| Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Generalized edema, Edema, Polyhydramnios, Periorbital edema, Facial ed... |
OMIM:616843 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
| Deafness-Hypogonadism Syndrome |
|
Congenital stationary night blindness, Epicanthus, Heterochromia iridis, Hypertelorism |
ORPHA:90646 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
| Mucolipidosis Iv |
|
Retinal degeneration, Corneal opacity, Opacification of the corneal stroma, Optic atrophy, Dystonia |
OMIM:252650 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Waardenburg Syndrome, Type 1 |
|
Blue irides, Hypopigmentation of the fundus, Synophrys, Premature graying of hair, Hypoplastic ir... |
OMIM:193500 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Abnormal macular morphology, Astigmati... |
ORPHA:54 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Highly arched eyebrow, Proptosis |
OMIM:608716 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:179700 |
| Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, H... |
OMIM:267700 |
| Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
| Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, Premature graying of hair, White hair, Partial albinism, Retinopathy |
ORPHA:79476 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:620126 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... |
OMIM:616329 |
| Lymphedema, Primary, With Myelodysplasia |
|
Webbed neck, Lymphedema |
OMIM:614038 |
| Frontoocular Syndrome |
|
Epicanthus, Pulmonic stenosis, Upslanted palpebral fissure, Short palpebral fissure, Hypotelorism... |
OMIM:605321 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, Iris hypopigmentation |
ORPHA:67048 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:620125 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Freckling, Iris hypopigmentation, Abnormal size of the palpebral fissures, Iris coloboma, Hypopig... |
ORPHA:3214 |
| Acral Self-Healing Collodion Baby |
|
Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of feet, Edema ... |
ORPHA:281127 |
| Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hypoglycemia, Hyperkalemia |
OMIM:614736 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... |
OMIM:217700 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Polycythemia, Hypermangan... |
OMIM:613280 |
| Cholestasis-Lymphedema Syndrome |
|
Abnormality of the lymphatic system, Lymphedema, Splenomegaly |
ORPHA:1414 |
| Acrofrontofacionasal Dysostosis |
|
Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebral fissures, Ap... |
ORPHA:1784 |
| Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Proptosis, Upslanted palpebral fissure |
OMIM:618492 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphedema |
OMIM:607115 |
| Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissure, Short pal... |
OMIM:615834 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, White hair, Abn... |
ORPHA:79435 |
| Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... |
ORPHA:90044 |
| Developmental And Epileptic Encephalopathy 48 |
|
Long eyelashes, Optic disc pallor, Long palpebral fissure, Proptosis, Rod-cone dystrophy |
OMIM:617276 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabet... |
OMIM:606176 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Absent extraocular muscles, Abnormally prominent line of Schwalbe, Proptosis, Hypertelorism, Tele... |
OMIM:109120 |
| Spondylo-Ocular Syndrome |
|
Cataract, Iris hypopigmentation, Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypopla... |
ORPHA:85194 |
| Crouzon Syndrome |
|
Iris coloboma, Hypopigmented skin patches, Proptosis, Melanocytic nevus, Optic atrophy, Conjuncti... |
ORPHA:207 |
| Cardiomyopathy, Dilated, 1U |
|
Syncope, Severely reduced left ventricular ejection fraction, First degree atrioventricular block... |
OMIM:613694 |
| Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Epicanthus, Pigmentary retinopathy, Upslanted palpebral fissure, Palp... |
OMIM:214110 |
| Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
| Norrie Disease |
|
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hypoplasia of... |
OMIM:310600 |
| Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
| Donnai-Barrow Syndrome |
|
Iris coloboma, Downslanted palpebral fissures, Retinal detachment, Proptosis, Hypertelorism, Reti... |
ORPHA:2143 |
| Oculocutaneous Albinism |
|
Hypoplasia of the fovea, Iris hypopigmentation, Iris coloboma, Hypopigmentation of the fundus, Ge... |
ORPHA:55 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Downslanted palpebral fissures, Abnormality iris morphology, Hypertelorism |
ORPHA:1617 |
| Kaposi Sarcoma |
|
Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen |
ORPHA:33276 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Lymphatic Malformation 12 |
|
Polyhydramnios, Nonimmune hydrops fetalis, Lymphedema, Fetal ascites |
OMIM:620014 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Hyperglycemia, Thrombocytopenia, Abnormal glucose homeostasis, Hyponatremia, Neutro... |
ORPHA:391673 |
| Klippel-Trenaunay-Weber Syndrome |
|
Lymphedema, Lymphangioma |
OMIM:149000 |
| Tonne-Kalscheuer Syndrome |
|
Blue irides, Downslanted palpebral fissures, Tremor, Hypotelorism, Hypertelorism |
OMIM:300978 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
| Waardenburg Syndrome, Type 2E |
|
Blue irides, Iris hypopigmentation, Hypopigmentation of the fundus, Hypopigmented skin patches, P... |
OMIM:611584 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79273 |
| Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Retinal detachment, Corneal opac... |
OMIM:610202 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Proptosis, Corneal opacity |
ORPHA:2370 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:610600 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... |
OMIM:113900 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:203400 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
| Holoprosencephaly 11 |
|
Synophrys, Hypotelorism, Proptosis, Thick eyebrow |
OMIM:614226 |
| Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... |
ORPHA:67042 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Myeloproliferative disorder, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin co... |
ORPHA:100924 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Telecanthus, Hypert... |
OMIM:601499 |
| Tangier Disease |
|
Myocardial infarction, Ectropion, Cicatricial ectropion, Opacification of the corneal stroma |
OMIM:205400 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Multiple lentigines, Vitiligo, Hypopigmented skin patches, Hypermelanotic macule, Progressive hyp... |
OMIM:145250 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Pigmentary retinopathy, Downslanted palpebral fissures, Short palpebral fissure, Post... |
OMIM:612582 |
| Cherubism |
|
Optic atrophy, Proptosis |
ORPHA:184 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Hyponatremia, Increase... |
OMIM:603553 |
| Apolipoprotein A-I Deficiency |
|
Angina pectoris, Xanthelasma, Opacification of the corneal stroma |
ORPHA:425 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... |
OMIM:300539 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Downslanted palpebral fissures, Sparse eyebrow, Hypertelorism, Ptosis, Promine... |
OMIM:616559 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Synophrys, Premature graying of hair, Thick eyebrow, White hair, Whit... |
ORPHA:894 |
| 8Q21.11 Microdeletion Syndrome |
|
Cataract, Iris hypopigmentation, Epicanthus, Downslanted palpebral fissures, Sclerocornea, Cornea... |
ORPHA:284160 |
| Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia |
OMIM:141000 |
| Mirage Syndrome |
|
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Hyperkalemia, Thrombocytopenia, Hyponatremia... |
OMIM:617053 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
| Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Generalized hypopigmentation, Shallow orbits, Iris transillumination defect, Microcornea |
OMIM:617306 |
| Tetralogy Of Fallot |
|
Proptosis |
OMIM:187500 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity, Hypertelorism |
ORPHA:1532 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Wolcott-Rallison Syndrome |
|
Hyperammonemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Lymphocytosis, ... |
ORPHA:1667 |
| Gm1-Gangliosidosis, Type Iii |
|
Dystonia, Opacification of the corneal stroma |
OMIM:230650 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... |
OMIM:206100 |
| Galactosialidosis |
|
Cherry red spot of the macula, Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Methionine Malabsorption Syndrome |
|
Blue irides, White hair |
OMIM:250900 |
| Intermediate Uveitis |
|
Cataract, Vitreous floaters, Vasculitis, Optic neuritis, Vitreous haze, Vitreous snowballs, Epire... |
ORPHA:279914 |
| Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Melorheostosis |
|
Lymphedema |
ORPHA:2485 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lymphedema, Short neck |
OMIM:616342 |
| Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea |
OMIM:217300 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Blue irides, Epicanthus, Hand tremor, Deeply set eye, Cafe-au-lait spot, Upslanted palpebral fissure |
ORPHA:3041 |
| Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
| Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, First degree atrioventricular block, Left bu... |
OMIM:613697 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hypoglycemia |
OMIM:616026 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly |
ORPHA:846 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Lymphadenopathy, Splenomegaly |
ORPHA:3226 |
| Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
| Phenylketonuria |
|
Blue irides, Cataract, Fair hair, Generalized hypopigmentation |
OMIM:261600 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemia |
OMIM:610021 |
| Piebaldism |
|
Piebaldism, Hypopigmented skin patches, Synophrys, White eyelashes, Hypopigmentation of hair, Whi... |
ORPHA:2884 |
| Waardenburg Syndrome, Type 4C |
|
Blue irides, Lacrimal gland hypoplasia, Hypopigmented skin patches, Premature graying of hair, Wh... |
OMIM:613266 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Left bundle branch block, Congestive heart failure, Increased left ventricu... |
OMIM:601493 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Ectropion, Proptosis |
OMIM:242500 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Colchicine Poisoning |
|
Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Astigmatism, Hypo... |
ORPHA:999 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Increased circulating renin level, Increased mean corpuscular hem... |
ORPHA:90041 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
OMIM:177735 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Normocytic anemia, Macrocytic anemia, Eosinophilia, Hyperkalemia, Type I diabetes ... |
ORPHA:199299 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Bilateral ptosis, Upslanted palpebral fissure, Short palpebral fissure, Highly arched... |
ORPHA:352490 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:177910 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Proptosis |
ORPHA:85172 |
| Noonan Syndrome 4 |
|
Blue irides, Epicanthus, Pulmonic stenosis, Bilateral ptosis, Downslanted palpebral fissures, Spa... |
OMIM:610733 |
| Milroy Disease |
|
Lymphedema, Predominantly lower limb lymphedema, Pedal edema |
ORPHA:79452 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity, Hypertelorism |
OMIM:244600 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Narrow palpebral fissure, Iris coloboma, Retinal detachment, Macular coloboma, Sclerocornea, Hype... |
OMIM:615145 |
| Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Astigmatism, Upslanted palpebral fissure, Short palpebral fissure, Hypotelorism, Long... |
OMIM:613174 |
| Wyburn-Mason Syndrome |
|
Subarachnoid hemorrhage, Retinal vascular malformation, Iris hypopigmentation, Cerebral hemorrhag... |
ORPHA:53719 |
| Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia |
OMIM:300971 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
| Spherocytosis, Type 2 |
|
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:616649 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
| Noonan Syndrome 13 |
|
Blue irides, Multiple lentigines, Epicanthus, Mitral regurgitation, Downslanted palpebral fissure... |
OMIM:619087 |
| Spherocytosis, Type 4 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
| Infantile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Pigmentary retinopathy, Corneal crystals |
ORPHA:411629 |
| Alg8-Cdg |
|
Thrombocytopenia, Hyponatremia, Anemia |
ORPHA:79325 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia, Glycosuria, Anemia |
ORPHA:97362 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Optic disc pallor, Upslanted palpebral fissure, Proptosis, Optic atrophy, Hyperte... |
OMIM:618437 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:556037 |
| Oculoectodermal Syndrome |
|
Epicanthus, Hyperpigmented streaks, Astigmatism, Eyelid coloboma, Hyperpigmentation of the skin, ... |
OMIM:600268 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Optic atrophy, Optic disc pallor, Proptosis, Long palpebral fissure |
OMIM:608027 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Anterior Segment Dysgenesis 1 |
|
Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
| Teebi Hypertelorism Syndrome 2 |
|
Upper eyelid coloboma, Thick eyebrow, Proptosis, Ptosis, Hypertelorism |
OMIM:619736 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Lymphangiectasis |
ORPHA:182 |
| Hypercholesterolemia, Familial, 3 |
|
Corneal arcus, Xanthelasma |
OMIM:603776 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Optic pit, Chorioretinal coloboma, Iris coloboma, Microcoria |
OMIM:616428 |
| Atopic Keratoconjunctivitis |
|
Chemosis, Keratoconjunctivitis sicca, Blepharitis, Loss of eyelashes, Corneal opacity, Abnormal e... |
ORPHA:163934 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Telecanthus, Epicanthus, Iris coloboma, Downslanted palpebral fissures, Retinoschisis, Euryblepha... |
ORPHA:2995 |
| Hypercholesterolemia, Familial, 1 |
|
Corneal arcus, Xanthelasma |
OMIM:143890 |
| Trisomy 12P |
|
Epicanthus, Thick eyebrow, Proptosis, Aplasia/Hypoplasia of the iris, Hypertelorism |
ORPHA:1699 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation, Palpebral edema, Ptosis |
ORPHA:1259 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
| Gomez-Lopez-Hernandez Syndrome |
|
Downslanted palpebral fissures, Opacification of the corneal stroma, Hypertelorism |
OMIM:601853 |
| Hepatocellular Carcinoma |
|
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Type II diabetes mellitu... |
ORPHA:88673 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
| Woolly Hair Nevus |
|
Persistent pupillary membrane, Patchy hypopigmentation of hair, Heterochromia iridis |
ORPHA:79414 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... |
ORPHA:90038 |
| Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Edema, Acantholysis |
ORPHA:455 |
| Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hypophosphatemia, Anemia, Splenomegaly, Calcinosis |
OMIM:239200 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... |
ORPHA:79434 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys |
ORPHA:1895 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia |
ORPHA:556030 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... |
OMIM:613838 |
| Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Fair hair, Iris transillumination ... |
OMIM:619172 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
| Yellow Nail Syndrome |
|
Lymphedema, Hypoplasia of lymphatic vessels |
ORPHA:662 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Synophrys, Downslanted palpebral fissures, Ectropion, Thick eyebrow, Conjunctivitis, Long palpebr... |
OMIM:602562 |
| Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Diabetes mellitus... |
ORPHA:2088 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Reticulocytosis, Anemia, Anemia of inadequate production, Erythroid hyperplasia, Po... |
OMIM:615631 |
| Hypercholesterolemia, Familial, 2 |
|
Corneal arcus, Xanthelasma |
OMIM:144010 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Retinal detachment, Persistent pupillary membrane |
OMIM:620253 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:682 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Partial albinism, Heterochro... |
ORPHA:998 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal eyebrow ... |
ORPHA:381 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin... |
ORPHA:79431 |
| Stickler Syndrome Type 1 |
|
Cataract, Retinal detachment, Proptosis, Abnormal vitreous humor morphology |
ORPHA:90653 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... |
OMIM:612098 |
| Cronkhite-Canada Syndrome |
|
Lymphedema, Splenomegaly |
ORPHA:2930 |
| Mucopolysaccharidosis Type 7 |
|
Short neck, Hydrops fetalis, Lymphedema, Splenomegaly, Ascites |
ORPHA:584 |
| Cardiomyopathy, Dilated, 2G |
|
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... |
OMIM:619897 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... |
ORPHA:848 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Hermansky-Pudlak Syndrome 8 |
|
Blue irides, Hypoplasia of the fovea, Epistaxis, Generalized hypopigmentation, Astigmatism, Albin... |
OMIM:614077 |
| Al-Gazali-Bakalinova Syndrome |
|
Lymphedema, Short neck |
OMIM:607131 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
| Woolly Hair |
|
Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Sparse lateral eyebrow, Hypopig... |
ORPHA:170 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema |
ORPHA:3137 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemia, Anemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentr... |
OMIM:619743 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
| Stickler Syndrome Type 2 |
|
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy |
ORPHA:90654 |
| Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Zellweger Syndrome |
|
Cataract, Brushfield spots, Epicanthus, Upslanted palpebral fissure, Optic atrophy, Corneal opaci... |
ORPHA:912 |
| Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Spherocytosis, Type 5 |
|
Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, Spherocytos... |
OMIM:612690 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Lymphedema, Oligohydramnios, Hydrops fetalis |
OMIM:601927 |
| Congenital Microcoria |
|
Iris hypopigmentation, Megalocornea, Astigmatism, Hypoplastic iris stroma, Corneal stromal edema,... |
ORPHA:566 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema |
ORPHA:79279 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:411515 |
