| Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... |
OMIM:103500 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis |
OMIM:143000 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat... |
OMIM:619947 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis |
OMIM:620086 |
| Progressive Hemifacial Atrophy |
|
Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis, Ptosis |
ORPHA:1214 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema |
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 |
|
Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleural effusion |
ORPHA:545 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... |
ORPHA:568051 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Oculocutaneous Albinism Type 6 |
|
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... |
ORPHA:370097 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Absence of lymph node germinal cen... |
ORPHA:90186 |
| Cherubism |
|
Macular scar, Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil |
OMIM:118400 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
| Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation |
ORPHA:99000 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
| Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... |
OMIM:153100 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
| Waardenburg Syndrome Type 2 |
|
Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi... |
ORPHA:895 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Cystinosis, Adult Nonnephropathic |
|
Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
| Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration |
OMIM:275400 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,... |
ORPHA:1390 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
| 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 |
| Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
| Lymphatic Malformation 4 |
|
Pedal edema, Lymphedema |
OMIM:615907 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Hypertelorism, Upper eyelid coloboma, ... |
ORPHA:1791 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Heterochromia iridis |
OMIM:616460 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... |
OMIM:613845 |
| Pontocerebellar Hypoplasia Type 10 |
|
Highly arched eyebrow, Optic atrophy, Proptosis, Long eyelashes, Long palpebral fissure |
ORPHA:411493 |
| Kleeblattschaedel |
|
Proptosis, Recurrent corneal erosions |
OMIM:148800 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy... |
ORPHA:2334 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema |
OMIM:616006 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis, Tremor |
ORPHA:66633 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Lymphedema |
OMIM:214900 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Campomelia, Cumming Type |
|
Polysplenia, Lymphedema |
OMIM:211890 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Neonatal hypoglycemia, Hyperkalemia, Hypoglycemic seizures |
ORPHA:199296 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Proptosis, Iritis, Multiple cafe-au-lait spots,... |
ORPHA:158000 |
| Waardenburg Syndrome, Type 3 |
|
Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray... |
OMIM:148820 |
| Frias Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes,... |
ORPHA:79432 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Tremor, Hypertension, Abnormality of macular pigmentati... |
ORPHA:97229 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... |
ORPHA:69735 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Anterior Segment Dysgenesis 4 |
|
Hypoplastic iris stroma, Iris hypopigmentation |
OMIM:137600 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Proptosis, Retinopathy |
OMIM:616171 |
| Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Deafness-Hypogonadism Syndrome |
|
Congenital stationary night blindness, Epicanthus, Heterochromia iridis, Hypertelorism |
ORPHA:90646 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... |
ORPHA:67043 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Mucolipidosis Iv |
|
Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration |
OMIM:252650 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Waardenburg Syndrome, Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Partial albinism, Hypertelorism, Synophrys, Blue iri... |
OMIM:193500 |
| X-Linked Recessive Ocular Albinism |
|
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom... |
ORPHA:54 |
| Microcephaly 5, Primary, Autosomal Recessive |
|
Proptosis, Highly arched eyebrow |
OMIM:608716 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation |
ORPHA:79476 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Proptosis, Long eyelashes, Long palpebral fissure, Rod-cone dystrophy |
OMIM:617276 |
| Lymphedema, Primary, With Myelodysplasia |
|
Webbed neck, Lymphedema |
OMIM:614038 |
| Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Frontoocular Syndrome |
|
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Proptosis, Pulmonic stenosis, Blepharophim... |
OMIM:605321 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi... |
ORPHA:3214 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, Iris hypopigmentation |
ORPHA:67048 |
| Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Abnormality of the lymphatic system, Lymphedema |
ORPHA:1414 |
| Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Upslanted palpebral fissure, Proptosis |
OMIM:618492 |
| Acrofrontofacionasal Dysostosis |
|
Hypertelorism, Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebr... |
ORPHA:1784 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Cinca Syndrome |
|
Lymphedema, Lymphadenopathy, Hepatosplenomegaly |
OMIM:607115 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Thick eyebrow, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Pro... |
OMIM:615834 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla... |
OMIM:611584 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Hypert... |
ORPHA:85194 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Telecanthus, Hypertelorism, Proptosis, Absent extraocular muscles, Abnormally pro... |
OMIM:109120 |
| Crouzon Syndrome |
|
Hypertelorism, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Proptosis, Conjuncti... |
ORPHA:207 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Tonne-Kalscheuer Syndrome |
|
Hypertelorism, Tremor, Blue irides, Hypotelorism, Downslanted palpebral fissures |
OMIM:300978 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Hypertelorism, Proptosis, Downslanted palpebral fissures, ... |
ORPHA:2143 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Hypertelorism, Brushfield spots, Optic nerve dysplasia, Up... |
OMIM:214110 |
| Lymphatic Malformation 12 |
|
Fetal ascites, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema |
OMIM:620014 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Generalized lymphadenopathy, Lymphedema |
ORPHA:33276 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto... |
ORPHA:391673 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Klippel-Trenaunay-Weber Syndrome |
|
Lymphangioma, Lymphedema |
OMIM:149000 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
| 2Q24 Microdeletion Syndrome |
|
Cataract, Downslanted palpebral fissures, Abnormality iris morphology, Hypertelorism |
ORPHA:1617 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79273 |
| Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Proptosis, Corneal opacity |
ORPHA:2370 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, My... |
ORPHA:100924 |
| Progressive Familial Heart Block, Type Ia |
|
Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon... |
OMIM:113900 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Telecanthus, Hypertelorism, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly,... |
OMIM:612582 |
| Holoprosencephaly 11 |
|
Synophrys, Proptosis, Thick eyebrow, Hypotelorism |
OMIM:614226 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... |
OMIM:145250 |
| Cherubism |
|
Proptosis, Optic atrophy |
ORPHA:184 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Telecanthus, Hypertelorism, Microcornea, Opacification of the corneal stroma, Anterior chamber sy... |
OMIM:601499 |
| Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
| Tangier Disease |
|
Ectropion, Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion |
OMIM:205400 |
| 8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Hypertelorism, Blepha... |
ORPHA:284160 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
| Apolipoprotein A-I Deficiency |
|
Xanthelasma, Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Noonan Syndrome 9 |
|
Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Pulmonic stenosis, Downslanted pal... |
OMIM:616559 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Glycosuria, Hypophosphatemia |
OMIM:618913 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
| Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Synophrys, White hair, Hyp... |
ORPHA:894 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Generalized hypopigmentation |
OMIM:617306 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Th... |
OMIM:617053 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Proptosis, Hypertelorism |
ORPHA:35099 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Intermediate Uveitis |
|
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... |
ORPHA:279914 |
| Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
| Tetralogy Of Fallot |
|
Proptosis |
OMIM:187500 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Corneal arcus |
OMIM:620058 |
| Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity, Hypertelorism |
ORPHA:1532 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi... |
ORPHA:1667 |
| Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma |
OMIM:256540 |
| Phenylketonuria |
|
Fair hair, Generalized hypopigmentation, Cataract, Blue irides |
OMIM:261600 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
| Melorheostosis |
|
Lymphedema |
ORPHA:2485 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Epicanthus, Blue irides, Hand tremor, Upslanted palpebral fissure, Deeply set eye, Cafe-au-lait spot |
ORPHA:3041 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Short neck, Lymphedema |
OMIM:616342 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria |
OMIM:616026 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Splenomegaly, Lymphadenopathy |
ORPHA:3226 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Albinism, Oculocutaneous, Type Vii |
|
Iris transillumination defect, Albinism |
OMIM:615179 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Proptosis, Ectropion |
OMIM:242500 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypoglycemia, Hypercalcemia, Eosinophilia, Hy... |
ORPHA:199299 |
| Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Blepharophimosis, Hypertelorism, Hypotelorism, Upslanted palpebral fissure, Astigmati... |
OMIM:613174 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia |
OMIM:264350 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Pedal edema, Lymphedema |
ORPHA:79452 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Bilateral ptosis, Upslanted palpebral fissure, ... |
ORPHA:352490 |
| Noonan Syndrome 4 |
|
Epicanthus, Hypertelorism, Sparse eyebrow, Bilateral ptosis, Blue irides, Pulmonic stenosis, Hype... |
OMIM:610733 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Proptosis |
ORPHA:85172 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Hypoglycemia |
OMIM:608688 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Narrow palpebral ... |
OMIM:615145 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Snakebite Envenomation |
|
Hyponatremia, Thrombocytopenia |
ORPHA:449285 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity, Hypertelorism |
OMIM:244600 |
| Noonan Syndrome 13 |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Blue irides, M... |
OMIM:619087 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Corneal arcus |
OMIM:144300 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Wyburn-Mason Syndrome |
|
Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Retinal vascular malformation, Proptosis... |
ORPHA:53719 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Hypertelorism, Optic atrophy, Upslanted palpebral fissure, Cardiomyopathy, Pro... |
OMIM:618437 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Anemia, Glycosuria |
ORPHA:97362 |
| Alg8-Cdg |
|
Hyponatremia, Thrombocytopenia, Anemia |
ORPHA:79325 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Lymphangiectasis, Edema, Lymphedema |
ORPHA:182 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Oculoectodermal Syndrome |
|
Epicanthus, Transient ischemic attack, Chorioretinal atrophy, Hyperpigmented streaks, Microcornea... |
OMIM:600268 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Pontocerebellar Hypoplasia, Type 3 |
|
Long palpebral fissure, Optic disc pallor, Proptosis, Optic atrophy |
OMIM:608027 |
| Teebi Hypertelorism Syndrome 2 |
|
Hypertelorism, Upper eyelid coloboma, Proptosis, Thick eyebrow, Ptosis |
OMIM:619736 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus |
OMIM:603776 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Transient ischemic attack, Highly arched eyebrow, Hyper... |
ORPHA:2995 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Edema, Acantholysis |
ORPHA:455 |
| Gomez-Lopez-Hernandez Syndrome |
|
Downslanted palpebral fissures, Opacification of the corneal stroma, Hypertelorism |
OMIM:601853 |
| Trisomy 12P |
|
Epicanthus, Hypertelorism, Aplasia/Hypoplasia of the iris, Proptosis, Thick eyebrow |
ORPHA:1699 |
| Hypercholesterolemia, Familial, 1 |
|
Xanthelasma, Corneal arcus |
OMIM:143890 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis |
ORPHA:1259 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
| Edinburgh Malformation Syndrome |
|
Brushfield spots, Synophrys |
ORPHA:1895 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
| Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypertelorism, Hypoplasia of the iris, Anterior synechiae of... |
OMIM:614195 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris transillum... |
OMIM:619172 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Hypertelorism, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Dow... |
OMIM:602562 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Lymphedema |
ORPHA:2930 |
| Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Corneal arcus |
OMIM:144010 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme... |
ORPHA:381 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Abnormal vitreous humor morphology, Proptosis |
ORPHA:90653 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Mucopolysaccharidosis Type 7 |
|
Short neck, Lymphedema, Splenomegaly, Hydrops fetalis, Ascites |
ORPHA:584 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
| Al-Gazali-Bakalinova Syndrome |
|
Short neck, Lymphedema |
OMIM:607131 |
| Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
| Woolly Hair |
|
Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars... |
ORPHA:170 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema |
ORPHA:3137 |
| Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigma... |
OMIM:614077 |
| Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Zellweger Syndrome |
|
Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic... |
ORPHA:912 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham... |
OMIM:602482 |
| Congenital Microcoria |
|
Developmental cataract, Corneal stromal edema, Iris transillumination defect, Nuclear cataract, A... |
ORPHA:566 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, ... |
OMIM:235255 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema |
ORPHA:79279 |
| Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies |
|
Cataract, Optic atrophy, Proptosis |
OMIM:617481 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Hypopigmented skin... |
ORPHA:3440 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Thin skin |
OMIM:607823 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Tetralogy Of Fallot |
|
Proptosis |
ORPHA:3303 |
| German Syndrome |
|
Short neck, Lymphedema |
ORPHA:2077 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypertelorism, Proptosis, Optic atrophy, Ptosis |
ORPHA:93262 |
| Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
| Whipple Disease |
|
Hyponatremia, Splenomegaly, Insulin resistance, Anemia |
ORPHA:3452 |
| Clapo Syndrome |
|
Lymphangioma, Lymphedema |
ORPHA:168984 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema |
OMIM:613089 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Short neck |
ORPHA:261519 |
| Monosomy 18P |
|
Webbed neck, Short neck, Lymphedema |
ORPHA:1598 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Upslanted palpebral fissure, Deeply set eye, Cafe-au-lait spot, Proptosis |
OMIM:618707 |
| Juvenile Nephropathic Cystinosis |
|
Abnormal cornea morphology, Hypovolemia, Corneal crystals |
ORPHA:411634 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Tenosynovial Giant Cell Tumor |
|
Joint swelling, Lymphedema |
ORPHA:66627 |
| Multiple Synostoses Syndrome 3 |
|
Proptosis |
OMIM:612961 |
| Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormality of the ocul... |
ORPHA:141099 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Blue irides |
OMIM:615516 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Proptosis, Corneal opacity |
OMIM:166300 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
| Proteus-Like Syndrome |
|
Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d... |
ORPHA:2969 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ocular albinism, Athetosis, Choro... |
ORPHA:2719 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Hypertelorism, Hypopigmented skin patches, Propt... |
ORPHA:53271 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia |
ORPHA:446 |
| Cystinosis |
|
Type I diabetes mellitus, Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid co... |
ORPHA:542643 |
| Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Deeply set e... |
OMIM:617183 |
| Houge-Janssens Syndrome 3 |
|
Epicanthus, Megalocornea, Proptosis, Hypertelorism |
OMIM:618354 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Downslanted palpebral fissures, Proptosis, Long eyelashes, Highly arched eyebrow |
OMIM:619451 |
| Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Athetosis, Iris hypopigmentation |
ORPHA:834 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Cantu Syndrome |
|
Pericardial effusion, Short neck, Lymphedema |
OMIM:239850 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemo... |
ORPHA:810 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigmentary retinopathy, Recurrent ... |
OMIM:219800 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Palpebral edema, Lymphedema |
OMIM:137940 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:157965 |
| Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
| Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ... |
ORPHA:3205 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:171876 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia |
ORPHA:79473 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albinism, Epistaxis, Ocu... |
ORPHA:79430 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... |
OMIM:235700 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Mastocytosis, Cutaneous |
|
Erythema, Edema |
OMIM:154800 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circulating... |
ORPHA:95409 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Hypertelorism, Abnormal pupil morphology, Microcornea, Blepharophimo... |
ORPHA:3374 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Proptosis, Corneal opacity, Hypertelorism |
OMIM:618961 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Proptosis, Long eyelashes, Hypertelorism |
OMIM:618577 |
| Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Iris transillumination defect |
OMIM:614074 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Vitamin K Antagonist Embryofetopathy |
|
Cataract, Optic atrophy, Proptosis, Hypertelorism |
ORPHA:1914 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Donnai-Barrow Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Hypertelorism, Hypoplasia of the iris, Proptosis... |
OMIM:222448 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Hypoglycemia |
ORPHA:95613 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia |
OMIM:620157 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Hypertelorism, Proptosis, Melanocytic nevus |
OMIM:612247 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Thyroid lymphangiectasia, Lymphedema, Pe... |
OMIM:235510 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus |
OMIM:245900 |
| Muenke Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:602849 |
| Jackson-Weiss Syndrome |
|
Hypertelorism, Proptosis, Ptosis |
ORPHA:1540 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Blepharophimosis, ... |
ORPHA:233 |
| Knobloch Syndrome 1 |
|
Attenuation of retinal blood vessels, Retinal detachment, Epicanthus, Telecanthus, Optic disc pal... |
OMIM:267750 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Proptosis, Downslanted palpebral fissures |
OMIM:618821 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Proptosis, Optic atrophy, Ptosis |
ORPHA:1185 |
| Fanconi Renotubular Syndrome 2 |
|
Glycosuria, Hypophosphatemia |
OMIM:613388 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... |
ORPHA:2035 |
| Crouzon Syndrome |
|
Hypertelorism, Keratitis, Optic atrophy, Proptosis, Conjunctivitis, Shallow orbits |
OMIM:123500 |
| Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Tricuspid regurgitation, Hypertelori... |
OMIM:614866 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Ketotic hypoglycemia, Hypoglycemic seizures |
ORPHA:361 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Abnormal eyelid morphology, Keratitis, Congestive heart failure, Tremor, Hyp... |
ORPHA:525731 |
| Albinism, Ocular, Type I |
|
Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus |
OMIM:300500 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Hypoglycemia, Hypercalcemia, Thiamine-responsive megaloblastic a... |
ORPHA:85138 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hypertelorism, Optic atrophy, Hypoplasia of the iris, Opacification of the ... |
OMIM:251300 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Recurrent cornea... |
OMIM:256800 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Abnormal iris pigmentation, Abnormal left ventricular function |
OMIM:132900 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... |
ORPHA:167 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Recurrent hypo... |
ORPHA:293978 |
| Neuroocular Syndrome |
|
Synophrys, Lens coloboma, Microcornea, Deeply set eye, Iris coloboma, Hooded upper eyelid, Hypopl... |
OMIM:619539 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Entropion, Hypermelanotic macule, Telangiectasia of the sk... |
ORPHA:910 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Hypertelorism, Bilateral ptosis, Cardiomyopathy, Mitral re... |
OMIM:607014 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Proptosis |
ORPHA:1832 |
| Infantile Systemic Hyalinosis |
|
Short neck, Aplasia/Hypoplasia of the thymus, Lymphedema |
ORPHA:2176 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re... |
OMIM:252600 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Epicanthus, Cataract, Hypertelorism, Brushfield spots, Upslanted palpebral fis... |
OMIM:214100 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Juvenile Nasopharyngeal Angiofibroma |
|
Proptosis, Epistaxis |
ORPHA:289596 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
| Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Lymphopenia |
ORPHA:549 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
| Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Abnormality of the lymphatic system, Nonimmune hydrops fetalis, Lymphedema |
ORPHA:137667 |
| Adenohypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95512 |
| Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Generalized hyperpigmentation, Blepharophimosis, Abnormal conjunctiva mo... |
ORPHA:3339 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Webbed neck |
OMIM:153400 |
| Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Iris hypopigmentation, Tremor, Optic atrophy, Astigmatism, Fair h... |
ORPHA:72 |
| Oculocutaneous Albinism Type 5 |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
| Acrofrontofacionasal Dysostosis 2 |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:239710 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Acantholysis, Widely spaced toes, Clinodactyly of the 5th finger, Mitten ... |
OMIM:609638 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Sparse eyebrow, Co... |
OMIM:601214 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Carpenter Syndrome 1 |
|
Telecanthus, Epicanthus, Optic atrophy, Microcornea, Pulmonic stenosis, Opacification of the corn... |
OMIM:201000 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit... |
ORPHA:309854 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis... |
ORPHA:1794 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Reduc... |
OMIM:181350 |
| Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia |
ORPHA:90791 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium |
OMIM:619339 |
| Desbuquois Syndrome |
|
Abnormal eyelash morphology, Proptosis |
ORPHA:1425 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema |
ORPHA:1563 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:427 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Lymphedema |
ORPHA:891 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia |
ORPHA:469 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Right bundle branch block, Bilateral ptosis, Ptosis |
OMIM:616479 |
| Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
| Cenani-Lenz Syndrome |
|
Ptosis, Cataract, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ectropion |
ORPHA:3258 |
| Angelman Syndrome |
|
Blue irides, Limb tremor, Deeply set eye, Fair hair, Hypopigmentation of the skin |
OMIM:105830 |
| Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
| Panhypophysitis |
|
Hyponatremia, Normochromic anemia |
ORPHA:95513 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
| Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia, Hypoglycemia |
ORPHA:91355 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Alg12-Cdg |
|
Hyponatremia, Recurrent hypoglycemia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Th... |
ORPHA:79324 |
| Hypophosphatasia, Childhood |
|
Proptosis |
OMIM:241510 |
| Koolen-De Vries Syndrome |
|
Epicanthus, Cataract, Iris hypopigmentation, Hypotelorism, Upslanted palpebral fissure, Pulmonic ... |
OMIM:610443 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Hypophosphatemia,... |
ORPHA:699 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, De... |
ORPHA:496790 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Hypertelorism, Lower eye... |
OMIM:263650 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation |
ORPHA:2720 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... |
OMIM:618892 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Lymphangioleiomyomatosis |
|
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... |
ORPHA:538 |
| Ogden Syndrome |
|
Torticollis, Proptosis, Cardiogenic shock, Arrhythmia, Downslanted palpebral fissures, Aplasia/Hy... |
ORPHA:276432 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
| Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Lymp... |
ORPHA:2136 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| Lateral Meningocele Syndrome |
|
Epicanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Iris coloboma, Ptosis |
ORPHA:2789 |
| Marshall Syndrome |
|
Retinal detachment, Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Hypertelorism, Ab... |
ORPHA:560 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2 |
|
Right bundle branch block |
OMIM:613158 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Proptosis, Telecanthus, Hypertelorism |
OMIM:263210 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Abnormal eyelash morph... |
ORPHA:2399 |
| Lathosterolosis |
|
Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis... |
ORPHA:46059 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Shashi-Pena Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Proptosis, Long eyelashes, Ptosis |
OMIM:617190 |
| Spinocerebellar Ataxia Type 3 |
|
Proptosis, Dystonia |
ORPHA:98757 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Upslanted palpebral fissure, Posterior subcapsular cataract, Astigmatism, Proptosis |
OMIM:619234 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Hypertelorism, Synophrys, Upslanted palpebral fissure, Proptosis, Long eyelashes, Downslanted pal... |
OMIM:620250 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Filippi Syndrome |
|
Proptosis, Optic atrophy, Dystonia |
OMIM:272440 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Hypopigmented skin patches, Opacification of the corneal stroma |
ORPHA:3453 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Proptosis |
ORPHA:2774 |
| Neu-Laxova Syndrome 2 |
|
Ablepharon, Cataract, Proptosis, Hypertelorism |
OMIM:616038 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:619278 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Usher Syndrome Type 2 |
|
Cataract, Iris hypopigmentation |
ORPHA:231178 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Proptosis, Ptosis |
ORPHA:2522 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... |
ORPHA:3337 |
| Ritscher-Schinzel Syndrome 4 |
|
Hypertelorism, Hypotelorism, Athetosis, Deeply set eye, Proptosis, Downslanted palpebral fissures |
OMIM:619435 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes... |
ORPHA:275761 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Hypertelorism, Almond-shaped palpebral fissure, Hypotelorism, Upslanted... |
ORPHA:177907 |
| Short Syndrome |
|
Posterior embryotoxon, Telecanthus, Corneal opacity, Hypertelorism, Abnormal pupil morphology, Hy... |
ORPHA:3163 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Right bundle branch block, Bilateral ptosis |
ORPHA:254361 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio... |
OMIM:115195 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus |
OMIM:614171 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Poems Syndrome |
|
Thrombocytosis, Diabetes mellitus, Polycythemia |
ORPHA:2905 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Hypertelorism, Hypotelorism, Athetosis, Corneal arcus |
OMIM:219150 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro... |
ORPHA:544482 |
| Lowry-Maclean Syndrome |
|
Corneal opacity, Developmental glaucoma, Proptosis, Megalocornea, Downslanted palpebral fissures |
ORPHA:2409 |
| Kniest Dysplasia |
|
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ... |
ORPHA:485 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
| Optic Pathway Glioma |
|
Papilledema, Proptosis, Optic atrophy |
ORPHA:2086 |
| Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Proptosis, Deeply set eye, Hypertelorism |
OMIM:617201 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy |
OMIM:604278 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction |
ORPHA:206559 |
| Tyshchenko Syndrome |
|
Proptosis, Pulmonic stenosis, Ptosis |
OMIM:615102 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bilateral ptosis, Synophrys, Deeply set eye, Proptosis, Bradycardia, Dow... |
OMIM:620351 |
| Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Proptosis, Shallow orbits, Pulmonary insufficiency, Intention tremor |
OMIM:619322 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Proptosis |
ORPHA:2776 |
| Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Epicanthus, Hypertelorism, Optic atrophy, Blue irides, Melanocytic nevus |
OMIM:101800 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n... |
OMIM:617872 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Epicanthus, Hypertelorism, Optic atrophy, Proptosis, Thick eyebrow |
OMIM:614800 |
| 20Q13.33 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Hematochezia, Prop... |
ORPHA:261311 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,... |
OMIM:221900 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma, Dystonia |
OMIM:251290 |
| Farber Disease |
|
Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn... |
ORPHA:333 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| 1Q41Q42 Microdeletion Syndrome |
|
Upslanted palpebral fissure, Deeply set eye, Abnormality iris morphology, Hypotelorism |
ORPHA:250999 |
| Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorr... |
ORPHA:97339 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Polyhydramnios, Lymphedema, Short neck, Splenomegaly, Hepatosplenomegaly, Chylothorax, Webbed neck |
OMIM:613563 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
| Muscle Filaminopathy |
|
Right bundle branch block, Cardiomyopathy, Left ventricular diastolic dysfunction |
ORPHA:171445 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, P... |
ORPHA:163746 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Epicanthus, Hypertelorism, Synophrys, Mitral regurgitation, Proptosis, Arrh... |
ORPHA:254346 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
| Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Tremor, Silver-gray hair, Ocular albi... |
OMIM:214500 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertelorism, Optic atrophy, Melanocytic nevus, Hypertension, Proptosis, Downslanted palpebral f... |
ORPHA:1555 |
| Distal Deletion 9P |
|
Upslanted palpebral fissure, Epicanthus, Proptosis, Hypertelorism |
ORPHA:1642 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... |
OMIM:115197 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Thanatophoric Dysplasia |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:2655 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio... |
OMIM:618815 |
| Dent Disease 1 |
|
Glycosuria, Hypophosphatemia |
OMIM:300009 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
| Prolidase Deficiency |
|
Hypertelorism, Proptosis, Diffuse telangiectasia, Ptosis |
OMIM:170100 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism, Epistaxis |
ORPHA:352723 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Ectopia lentis, Melanocytic nevus, Hypertension, Keratoconjunctivitis sicca, Deeply set eye, Prop... |
OMIM:616914 |
| Rabin-Pappas Syndrome |
|
Hyponatremia |
OMIM:620155 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Parakeratosis, Acantholysis |
ORPHA:79151 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
| Kosaki Overgrowth Syndrome |
|
Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
| Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Proptosis, Optic atrophy |
OMIM:618346 |
| 2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Hypertelorism, Synophrys, Optic disc coloboma, Proptosis, Downslanted palpebral fissu... |
ORPHA:251014 |
| Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Hypermelanotic macule, Hypertension, Astigmatism, Cerebral ischemia, O... |
OMIM:242900 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hypoglycemia, Hyperuricemia |
OMIM:261750 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Tremor, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
| Chops Syndrome |
|
Cataract, Hypertelorism, Synophrys, Optic atrophy, Proptosis, Long eyelashes, Thick eyebrow |
OMIM:616368 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... |
ORPHA:99103 |
| Hermansky-Pudlak Syndrome 4 |
|
Hypoplasia of the fovea, Ocular albinism, Epistaxis, Albinism |
OMIM:614073 |
| Scapuloperoneal Myopathy, X-Linked Dominant |
|
Right bundle branch block |
OMIM:300695 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Cataract, First degree atrioventricular block |
ORPHA:589821 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
| Noonan Syndrome 10 |
|
Epicanthus, Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Hypertrophic cardiomyo... |
OMIM:616564 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu... |
OMIM:194380 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
| Darier-White Disease |
|
Hypermelanotic macule, Subungual hyperkeratotic fragments, Acantholysis |
OMIM:124200 |
| Ocular Albinism With Late-Onset Sensorineural Deafness |
|
Ocular albinism |
ORPHA:1000 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Telangiectasia of the skin, Optic atrophy, Upslanted palpebral fis... |
ORPHA:2135 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... |
OMIM:232800 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Epicanthus, Palpebral edema, Hypertelorism, Sparse eyebrow, Congestive hear... |
OMIM:252500 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Proptosis, Ptosis |
ORPHA:1323 |
| Apert Syndrome |
|
Hypertelorism, Corneal erosion, Optic atrophy, Hypertension, Proptosis, Downslanted palpebral fis... |
ORPHA:87 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| 20Q11.2 Microduplication Syndrome |
|
Epicanthus, Palpebral edema, Proptosis, Abnormal shape of the palpebral fissure, Lingual dystonia... |
ORPHA:363659 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Upslanted palpebral fissure, Ocular albinism, Blepharophimosis |
ORPHA:1352 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Hyperkeratosis, Palmoplantar keratoderma, Lip hyperpigmentation |
ORPHA:166113 |
| Takenouchi-Kosaki Syndrome |
|
Webbed neck, Lymphedema |
OMIM:616737 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Acrocraniofacial Dysostosis |
|
Telecanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:949 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Epicanthus, Telecanthus, Optic atrophy, Right bundle branch block, Deeply set eye |
OMIM:618590 |
| Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Upper eyelid edema |
ORPHA:293939 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Ab... |
ORPHA:636 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Anasarca, Pleural effusion |
ORPHA:90363 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Japanese Encephalitis |
|
Hyponatremia, Neutrophilia |
ORPHA:79139 |
| Hypomandibular Faciocranial Dysostosis |
|
Upslanted palpebral fissure, Optic disc coloboma, Downslanted palpebral fissures, Proptosis |
ORPHA:1790 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Acantholysis, Palmoplantar hyperkeratosis, Clubbing of fingers, Palmoplantar keratoderma |
OMIM:605676 |
| Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Hypertelorism, Melanocytic nevus, Hypertrophic cardio... |
ORPHA:500 |
| Bartsocas-Papas Syndrome |
|
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe... |
ORPHA:1234 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
| Nail-Patella Syndrome |
|
Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign |
OMIM:161200 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Hypertelorism, Congestive ... |
ORPHA:363705 |
| Hec Syndrome |
|
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy... |
ORPHA:2119 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Cataract, Absent eyelashes, Proptosis, Hyperpigmentation of the skin |
ORPHA:90153 |
| Trisomy 9P |
|
Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fissures, Hypertelorism |
ORPHA:236 |
| Machado-Joseph Disease |
|
Dystonia, Proptosis, Ptosis |
OMIM:109150 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Anterior chamber synechiae, Uveitis, Band keratopathy |
ORPHA:85410 |
| Fumarase Deficiency |
|
Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Tricuspid regurgitation, Optic atrophy, Right bundle branch block, Mitral regurgitation, Astigmatism |
OMIM:619576 |
| Myotonic Dystrophy 2 |
|
Tachycardia, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Premature... |
OMIM:602668 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
| Phelan-Mcdermid Syndrome |
|
Palpebral edema, Lymphedema |
OMIM:606232 |
| Atrial Septal Defect, Ostium Primum Type |
|
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... |
ORPHA:99106 |
| Mosaic Trisomy 1 |
|
Congenital bilateral ptosis, Downslanted palpebral fissures, Opacification of the corneal stroma |
ORPHA:1692 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:168558 |
| Pemphigus Erythematosus |
|
Hypopigmented skin patches, Acantholysis |
ORPHA:79480 |
| Noonan Syndrome |
|
Abnormality of the spleen, Abnormality of the lymphatic system, Webbed neck, Lymphedema |
ORPHA:648 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Hypertelorism, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnor... |
ORPHA:2479 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating... |
ORPHA:289548 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Arrhythmia, Ventricular bigeminy, Left bundle branch block, Ptosis |
OMIM:610131 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Optic neuropathy, Hypertelorism, Optic atrophy, Proptosis, Optic nerve compression, M... |
OMIM:619727 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Postprandial hype... |
ORPHA:79102 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
| Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
| Cole-Carpenter Syndrome 2 |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:616294 |
| Fabry Disease |
|
Lymphedema |
OMIM:301500 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema |
OMIM:300291 |
| Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Synophrys, Optic atrophy, Atrioventricular block, Pigmentary retinopat... |
ORPHA:581 |
| Holoprosencephaly |
|
Hyponatremia, Abnormality of the spleen, Diabetes mellitus, Hypoglycemia |
ORPHA:2162 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma |
OMIM:253010 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Anteri... |
ORPHA:96125 |
| H Syndrome |
|
Abnormal eyebrow morphology, Abnormal cardiovascular system physiology, Upper eyelid edema, Corne... |
ORPHA:168569 |
| Nail-Patella Syndrome |
|
Antecubital pterygium, Abnormal iris pigmentation, Primary congenital glaucoma, Lester's sign |
ORPHA:2614 |
| Developmental And Epileptic Encephalopathy 80 |
|
Upslanted palpebral fissure, Optic disc pallor, Proptosis, Hypertelorism |
OMIM:618580 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Hypopigmented skin patches, Keratoconjunctivitis, Opacification of th... |
ORPHA:2907 |
| Bainbridge-Ropers Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Deeply ... |
OMIM:615485 |
| Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria |
OMIM:229600 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration |
OMIM:607016 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Epicanthus, Proptosis, Hypertelorism |
ORPHA:1908 |
| Vascular Malformation, Primary Intraosseous |
|
Proptosis |
OMIM:606893 |
| Mccune-Albright Syndrome |
|
Pancytopenia, Hypophosphatemia |
ORPHA:562 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Stuve-Wiedemann Syndrome 1 |
|
Deeply set eye, Blotching pigmentation of the skin, Opacification of the corneal stroma, Pulmonar... |
OMIM:601559 |
| Neu-Laxova Syndrome |
|
Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m... |
ORPHA:2671 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Distal Deletion 10Q |
|
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Astigmatism, Proptosis, Downslanted palpeb... |
ORPHA:96148 |
| Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Proptosis |
ORPHA:352582 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Proptosis |
OMIM:275000 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Hypertelorism, Absent eyelashes, Optic nerve dysplasia, Proptosis, Mu... |
OMIM:115150 |
| Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Hypertelorism, Hypermyelinated retinal nerve fibers, Hypotelorism, Corneal strom... |
OMIM:601812 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Telecanthus, Sparse eyebrow, Spotty hypopigmentation, Proptosis, Spotty hyperpigmentation |
OMIM:615789 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Atelosteogenesis Type I |
|
Telecanthus, Proptosis, Retinal dysplasia, Hypertelorism |
ORPHA:1190 |
| Hermansky-Pudlak Syndrome 6 |
|
Epistaxis, Albinism, Ocular albinism, Absent foveal reflex, Macular hypoplasia, Hypopigmentation ... |
OMIM:614075 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ptosis, Epicanthus, Tricuspid regurgitation, Lacrimal duct stenosis, Optic nerve hypoplasia, High... |
OMIM:617506 |
| Cardiofaciocutaneous Syndrome |
|
Webbed neck, Short neck, Lymphedema |
ORPHA:1340 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Hypertension, Iritis... |
OMIM:186580 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Lathosterolosis |
|
Epicanthus, Cataract, Opacification of the corneal stroma, Downslanted palpebral fissures, Ptosis |
OMIM:607330 |
| Cockayne Syndrome B |
|
Tremor, Optic atrophy, Developmental cataract, Microcornea, Hypoplasia of the iris, Abnormality o... |
OMIM:133540 |
| Fibrous Dysplasia Of Bone |
|
Diabetes mellitus, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
| Antley-Bixler Syndrome |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:83 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Thrombocytopenia, Hypokalemia, Hypophosphatemia, Hypercholesterolemi... |
ORPHA:534 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Cataract, Heart block, Cardiomyopathy, Retinopathy, Ptosis |
ORPHA:773 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Vici Syndrome |
|
Epicanthus, Cataract, Hypopigmentation of hair, Macular atrophy, Albinism, Hypertelorism, Congest... |
OMIM:242840 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia |
ORPHA:667 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Long eyebrows, Hypertelorism, Optic atrophy, Long eyelashes, S-shaped palpebral fis... |
OMIM:201180 |
| Cinca Syndrome |
|
Retrobulbar optic neuritis, Pseudopapilledema, Proptosis, Uveitis |
ORPHA:1451 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Webbed neck |
ORPHA:33001 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:610505 |
| Cole-Carpenter Syndrome 1 |
|
Proptosis, Orbital craniosynostosis, Shallow orbits |
OMIM:112240 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Synophrys, Proptosis, Long eyelashes, Long palpebral fissure |
OMIM:615803 |
| Hermansky-Pudlak Syndrome 7 |
|
Ocular albinism, Epistaxis, Albinism |
OMIM:614076 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Almond-shaped palpebral fissure, Upslanted palpebral fissure, Generaliz... |
OMIM:176270 |
| Cerebrofacioarticular Syndrome |
|
Lymphedema |
ORPHA:314679 |
| Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Hypertelorism, Irregular hyperpigmentation, Premature ventricular contraction |
ORPHA:1964 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Pterygium, Proptosis, Developmental cataract |
ORPHA:1865 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Webbed neck, Abnormality of the lymphatic system, Lymphedema |
ORPHA:487796 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618835 |
| Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Hypertelorism, Hypoplasia of the iris, Megalocornea, Downslanted palpeb... |
OMIM:249310 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia |
OMIM:618839 |
| Lymphatic Malformation 13 |
|
Ascites, Nonimmune hydrops fetalis, Lymphedema |
OMIM:620244 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... |
OMIM:203300 |
| Hyperostosis Cranialis Interna |
|
Proptosis, Optic atrophy |
OMIM:144755 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Microhydranencephaly |
|
Athetosis, Proptosis |
OMIM:605013 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hypertension, Mitral regurgitation, ... |
OMIM:614008 |
| Dysbetalipoproteinemia |
|
Xanthelasma, Corneal arcus, Angina pectoris |
ORPHA:412 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Optic nerve hypoplasia, Proptosis, Shallow orbits, Pulmonary arterial hype... |
OMIM:620029 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Cataract, Entropion, Hypertelorism, Congestive heart failure, Right bundle branch block, Blepharo... |
OMIM:617403 |
| Caffey Disease |
|
Proptosis |
ORPHA:1310 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... |
ORPHA:1329 |
| Cockayne Syndrome A |
|
Cataract, Retinal atrophy, Tremor, Retinal pigment epithelial mottling, Optic atrophy, Abnormalit... |
OMIM:216400 |
| Phakomatosis Pigmentokeratotica |
|
Lymphedema |
ORPHA:2874 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Hypertelorism, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:248340 |
| Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Cataract, Proptosis, Degenerative vitreoretinopathy |
ORPHA:1427 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal... |
OMIM:619991 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Tremor, Congestive heart failur... |
ORPHA:466677 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Hypertelorism, Hypopigmented skin patches, Eyelid coloboma, Iris coloboma, Ptosis |
ORPHA:1647 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:98754 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, White eyebrow, Portal hypertension, Hypopigmented skin patches, Whi... |
OMIM:609136 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Hypertension, Aniridia, Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest... |
ORPHA:439 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypertelorism, Proptosis, Portal hypertension, Ptosis |
OMIM:613385 |
| Kniest Dysplasia |
|
Retinal detachment, Cataract, Proptosis |
OMIM:156550 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:85184 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Hypertelorism |
ORPHA:2165 |
| Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... |
OMIM:115250 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Corneal arcus, Proptosis, Hypertrichotic hyperpigmented patch, Pulmonic stenosis, Facial telangie... |
OMIM:602782 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
| Localized Scleroderma |
|
Raynaud phenomenon, Vasculitis, Hypopigmented skin patches, Uveitis, Deeply set eye, Proptosis, A... |
ORPHA:90289 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:98793 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Hypertelorism, Pr... |
OMIM:259600 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Lymphedema |
ORPHA:2822 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177904 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:89938 |
| Pemphigus Vulgaris |
|
Acantholysis |
ORPHA:704 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Almond-shaped palpebral fissure, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... |
ORPHA:177901 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c |
OMIM:616113 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Dacryocystitis, Blue irides, Blepha... |
OMIM:129900 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertelorism, Optic atrophy, Hypertension, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:123790 |
| Alagille Syndrome 1 |
|
Cataract, Band keratopathy, Hypertelorism, Abnormal anterior chamber morphology, Chorioretinal at... |
OMIM:118450 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Proptosis |
OMIM:614078 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
| Wolf-Hirschhorn Syndrome |
|
Epicanthus, Sclerocornea, Highly arched eyebrow, Hypertelorism, Optic atrophy, Proptosis, Retinop... |
ORPHA:280 |
| Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
| Chitayat Syndrome |
|
Proptosis, Hypertelorism |
OMIM:617180 |
| Cole-Carpenter Syndrome |
|
Proptosis, Downslanted palpebral fissures |
ORPHA:2050 |
| Bohring-Opitz Syndrome |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Abnormal optic nerve morphology |
OMIM:605039 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Palpebral edema, Angina pectoris,... |
ORPHA:93672 |
| Leopard Syndrome 1 |
|
Bundle branch block, Epicanthus, Hypertelorism, Multiple lentigines, Third degree atrioventricula... |
OMIM:151100 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Acantholysis |
OMIM:616295 |
| Lethal Acantholytic Erosive Disorder |
|
Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, 3-4 f... |
ORPHA:158687 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Lymphedema |
ORPHA:109 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Upslanted palpebral fissure, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:611209 |
| Fibrochondrogenesis |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
ORPHA:2021 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Anemia |
ORPHA:93325 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d... |
ORPHA:79078 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Proptosis, Long eyelashes, Hypertelorism |
OMIM:618529 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Predominantly lower limb lymphedema |
OMIM:604121 |
| Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Hypotelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2215 |
| Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Highly arched eyebrow, Hypert... |
ORPHA:309282 |
| Gaucher Disease, Type Iiic |
|
Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
| Hermansky-Pudlak Syndrome 10 |
|
Hypotelorism, Dystonia, Ocular albinism, Albinism |
OMIM:617050 |
| Cornelia De Lange Syndrome 1 |
|
Curly eyelashes, Highly arched eyebrow, Synophrys, Optic disc coloboma, Optic atrophy, Microcorne... |
OMIM:122470 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Hypertelorism, Tremor, Synophrys, Nasolacrimal duct obstruction, Deeply set eye, Proptosis, Dysto... |
OMIM:300966 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... |
ORPHA:731 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Ogden Syndrome |
|
Maternal diabetes, Iron deficiency anemia, Hyperbilirubinemia, Polycythemia, Thrombocytopenia |
OMIM:300855 |
| Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Hypertelorism, Abnormal pupil morphol... |
ORPHA:52 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Hypertelorism, Proptosis, Shallow orbits |
ORPHA:73230 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Hypertelorism, Posterior subcapsular cataract, Optic dis... |
ORPHA:536471 |
| Spondyloocular Syndrome |
|
Webbed neck, Lymphedema |
OMIM:605822 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... |
ORPHA:370959 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Hypertelorism, Eyelid coloboma, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
| Desbuquois Dysplasia 1 |
|
Developmental glaucoma, Proptosis |
OMIM:251450 |
| Marshall-Smith Syndrome |
|
Proptosis, Optic atrophy, Hypertelorism |
ORPHA:561 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
| Acute Generalized Exanthematous Pustulosis |
|
Facial edema, Hyperpigmentation of the skin, Acantholysis |
ORPHA:293173 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Pleural effusion, Chylothorax, Edema, Lymphedema |
ORPHA:2526 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Epicanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:264200 |
| Trisomy 8P |
|
Hypertelorism, Heart murmur, Upslanted palpebral fissure, Astigmatism, Heterochromia iridis |
ORPHA:264450 |
| Jackson-Weiss Syndrome |
|
Proptosis |
OMIM:123150 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Blue irides, Blepharoph... |
OMIM:604292 |
| Schneckenbecken Dysplasia |
|
Short neck, Polyhydramnios, Lymphedema |
ORPHA:3144 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Thick eyebrow |
ORPHA:585 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema |
ORPHA:79280 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Epicanthus, Tricuspid regurgitation, Telecanthus, Hypertelorism, Upslanted palpebral fissure, Pro... |
OMIM:616894 |
| Thanatophoric Dysplasia Type 2 |
|
Proptosis |
ORPHA:93274 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Congenital Myopathy 17 |
|
Telecanthus, Proptosis, Downslanted palpebral fissures, Ptosis |
OMIM:618975 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria |
ORPHA:1652 |
| Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Epicanthus, Albinism, Ocular albinism, Upslanted palpebral fissur... |
OMIM:608233 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Cataract, Supraventricular arrhythmia, Band keratopathy |
ORPHA:2959 |
| Fanconi Anemia |
|
Epicanthus, Cataract, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Hypertelorism,... |
ORPHA:84 |
| Fryns Syndrome |
|
Blepharophimosis, Narrow palpebral fissure, Opacification of the corneal stroma, Hypertelorism |
OMIM:229850 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Proptosis |
OMIM:274300 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock, Proptosis, Hypertelorism |
ORPHA:742 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
| Xylt1-Cdg |
|
Synophrys, Proptosis |
ORPHA:370930 |
| Shprintzen-Goldberg Syndrome |
|
Telecanthus, Hypertelorism, Mitral regurgitation, Proptosis, Downslanted palpebral fissures, Ptosis |
ORPHA:2462 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia |
ORPHA:293987 |
| Baller-Gerold Syndrome |
|
Hypertelorism, Epicanthus, Proptosis, Hypotelorism |
ORPHA:1225 |
| Desbuquois Dysplasia 2 |
|
Epicanthus, Synophrys, Proptosis |
OMIM:615777 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Telecanthus, Hypertelorism, Proptosis, Shallow orbits, Downslanted palpebral fissures, Ptosis |
OMIM:182212 |
| Loeys-Dietz Syndrome 5 |
|
Hypertelorism, Mitral regurgitation, Proptosis, Long palpebral fissure, Downslanted palpebral fis... |
OMIM:615582 |
| Frank-Ter Haar Syndrome |
|
Hypertelorism, Developmental glaucoma, Buphthalmos, Proptosis, Megalocornea, Cafe-au-lait spot, D... |
OMIM:249420 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hypertelorism, Developmental glaucoma, Proptosis, Downslanted palpebral fissures, Thick eyebrow |
OMIM:245600 |
| Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Cataract, Retinal atrophy, Retinal dystro... |
ORPHA:191 |
| Arboleda-Tham Syndrome |
|
Epicanthus, Dystonia, Lacrimal duct stenosis, Highly arched eyebrow, Optic atrophy, Upper eyelid ... |
OMIM:616268 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Proptosis, Long eyelashes, Hypertelorism |
ORPHA:2008 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Synophrys, Abnormality of skin pigmentation, Deeply set eye, Chorioretinal coloboma, Juvenile cat... |
OMIM:619475 |
| Microcephaly 3, Primary, Autosomal Recessive |
|
Proptosis |
OMIM:604804 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Proptosis, Telangiectasia of the skin |
OMIM:615381 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Upslanted palpebral fissure, Proptosis, Hypertelorism |
OMIM:616331 |
| Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Polycythemia, N... |
ORPHA:116 |
| Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Cataract, Proptosis |
ORPHA:50945 |
| Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Hypopigmentation of hair, Sclerocornea, Hypertelorism, Abnormal eyelash mor... |
ORPHA:818 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Proptosis, Portal hypertension, Ptosis |
ORPHA:228426 |
| Stickler Syndrome |
|
Retinal detachment, Epicanthus, Cataract, Telecanthus, Ectopia lentis, Hypertelorism, Abnormal vi... |
ORPHA:828 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal eyelid morphology, Abnormal retinal... |
ORPHA:909 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi... |
OMIM:253280 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Iris atrophy, Orthostatic hypotension, Ptosis |
OMIM:146500 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C... |
ORPHA:1880 |
| Saul-Wilson Syndrome |
|
Cataract, Proptosis |
OMIM:618150 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia |
ORPHA:90794 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Proptosis, Optic atrophy, Mydriasis |
OMIM:259720 |
| Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Cataract, Band keratopathy, Choreoathetosis, Hypertension, Conjunctivitis,... |
ORPHA:79443 |
| Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Hypertelorism, Proptosis, Arrhythmia, Downslanted palpebral fissures, Thic... |
ORPHA:1519 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Optic atrophy, Telangiectasia, ... |
ORPHA:93400 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosis, Downslanted palpebral fiss... |
OMIM:617011 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
| Down Syndrome |
|
Brushfield spots, Epicanthus, Upslanted palpebral fissure |
OMIM:190685 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Oculodentodigital Dysplasia |
|
Epicanthus, Cataract, Hypertelorism, Optic atrophy, Abnormality iris morphology, Hypotelorism, Mi... |
ORPHA:2710 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
| Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
| Elsahy-Waters Syndrome |
|
Cataract, Hypertelorism, Synophrys, Proptosis, Increased cup-to-disc ratio, Megalocornea, Downsla... |
OMIM:211380 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hypertelorism, Proptosis, Pulmonic stenosis, Generalized hypopigmentation, ... |
OMIM:222470 |
| Congenital Myopathy 22B, Severe Fetal |
|
Deeply set eye, Synophrys, Proptosis, Downslanted palpebral fissures |
OMIM:620369 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cataract, Highly arched eyebrow, Congestive heart failure, Synophrys, Proptosis, Long eyelashes, ... |
ORPHA:444077 |
| Fibrochondrogenesis 1 |
|
Megalocornea, Proptosis |
OMIM:228520 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
| Restrictive Dermopathy 2 |
|
Proptosis |
OMIM:619793 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... |
OMIM:619381 |
| Machado-Joseph Disease Type 1 |
|
Proptosis, Dystonia |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Proptosis, Dystonia |
ORPHA:276241 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Abnormal retinal vascular morphology, Congestive heart fa... |
ORPHA:33226 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Epicanthus, Proptosis, Mitral regurgitation, Hypertelorism |
ORPHA:457395 |
| X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Hypertelorism, Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation, ... |
ORPHA:3063 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Cataract, Generalized hyperpigmentati... |
ORPHA:744 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Hypertelorism, Narrow palpebral fissure, Proptosis, Bradycardia, Pulmonary insufficiency, Downsla... |
OMIM:614437 |
| Donohue Syndrome |
|
Proptosis, Hypermelanotic macule |
OMIM:246200 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Bilateral ptosis, Heart murmur, Upslanted palpebral fissure, Intracranial hemorrhage, Proptosis, ... |
ORPHA:163979 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Abnormality of the orbital region, Upslanted palpebral... |
ORPHA:468631 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Proptosis |
OMIM:617895 |
| Erdheim-Chester Disease |
|
Xanthelasma, Proptosis, Congestive heart failure, Ptosis |
ORPHA:35687 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Proptosis |
ORPHA:440354 |
| Sclerosteosis 1 |
|
Papilledema, Proptosis, Optic atrophy, Hypertelorism |
OMIM:269500 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Proptosis, Shallow orbits, Downslante... |
ORPHA:457359 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Retinal detachment, Pericarditis, Epistaxis, Hematemesis, Myocarditi... |
ORPHA:73263 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
| Kanzaki Disease |
|
Lymphedema |
OMIM:609242 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
| Wiedemann-Rautenstrauch Syndrome |
|
Absent eyebrow, Cataract, Entropion, Sparse eyelashes, Hypertelorism, Absent eyelashes, Sparse ey... |
OMIM:264090 |
| Autosomal Dominant Robinow Syndrome |
|
Epicanthus, Curly eyelashes, Hypertelorism, Upslanted palpebral fissure, Euryblepharon, Long eyel... |
ORPHA:3107 |
| Hemorrhagic Fever-Renal Syndrome |
|
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
| Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Long eyelashes, Long palpebral... |
ORPHA:1507 |
| Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
| Branchioskeletogenital Syndrome |
|
Telecanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Blepharochalasis, Eyelid coloboma, ... |
ORPHA:1299 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Melanocytic nevus, Premature ventricula... |
OMIM:602535 |
| Machado-Joseph Disease Type 3 |
|
Proptosis, Dystonia |
ORPHA:276244 |
| Bohring-Opitz Syndrome |
|
Retinal atrophy, Hypertelorism, Synophrys, Optic atrophy, Proptosis, Bradycardia |
ORPHA:97297 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Hypertelorism, Synophrys, Thin eyebrow, Cafe-au-lait spot, Short pa... |
ORPHA:364577 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Congestive heart failure, Punctate opacification of the cornea, Premature graying of hair, Propto... |
OMIM:256040 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Predominantly lower limb lymphedema |
ORPHA:314404 |
| Meier-Gorlin Syndrome 7 |
|
Heart block, Second degree atrioventricular block, Proptosis, Thin eyebrow |
OMIM:617063 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
| Craniosynostosis 4 |
|
Proptosis, Optic nerve hypoplasia, Hypertelorism |
OMIM:600775 |
| Williams Syndrome |
|
Myocardial infarction, Tremor, Megalocornea, Sudden cardiac death, Blue irides, Aplasia/Hypoplasi... |
ORPHA:904 |
| Pfeiffer Syndrome Type 1 |
|
Proptosis, Hypertelorism |
ORPHA:93258 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Keratitis, Absent eyelashes, Hypertension, Opacification of the corneal stroma, R... |
OMIM:308205 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
| Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Hypertelorism, Eyelid coloboma, Proptosis, Opacification of the cornea... |
OMIM:268300 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Melnick-Needles Syndrome |
|
Proptosis, Hypertelorism |
ORPHA:2484 |
| Noonan Syndrome 1 |
|
Webbed neck, Short neck, Chylothorax, Lymphedema |
OMIM:163950 |
| Alg9-Cdg |
|
Telecanthus, Tricuspid regurgitation, Torticollis, Hypertelorism, Proptosis, Shallow orbits |
ORPHA:79328 |
| Thanatophoric Dysplasia Type 1 |
|
Proptosis |
ORPHA:1860 |
| Apert Syndrome |
|
Hypertelorism, Proptosis, Downslanted palpebral fissures, Shallow orbits |
OMIM:101200 |
| Warty Dyskeratoma |
|
Acantholysis |
ORPHA:69745 |
| Monosomy 22Q13.3 |
|
Palpebral edema, Lymphedema |
ORPHA:48652 |
| Osteoglophonic Dysplasia |
|
Telecanthus, Hypertelorism, Proptosis, Shallow orbits, Downslanted palpebral fissures |
OMIM:166250 |
| Dysostosis, Stanescu Type |
|
Proptosis, Hypertelorism |
ORPHA:1798 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyelashes, Absent eyebrow, Proptosis |
ORPHA:85199 |
| Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Epicanthus, Portal hypertension, Retinal arteriolar tortuosity, Bl... |
OMIM:194050 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Mottled pigmentation, Proptosis |
OMIM:608612 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hyperkalemia, Hypoglycemia, Decreased circulating renin level |
OMIM:201750 |
| 17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Hypermelanotic macule, Hypertelorism, Retinal vascular proliferation,... |
ORPHA:97685 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Cataract, Highly arched eyebrow, Hypertelorism, Nasolacrimal duct obst... |
OMIM:180849 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypertelorism, Right ventricular outlet tract obstruction, Proptosis, Long eyelashes, Long palpeb... |
OMIM:268310 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Epicanthus, Hypertelorism, Cardiomyopathy, Downslante... |
ORPHA:373 |
| Yunis-Varon Syndrome |
|
Cataract, Sparse eyelashes, Sclerocornea, Hypertelorism, Sparse eyebrow, Renovascular hypertensio... |
ORPHA:3472 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
| Hyperthyroidism, Nonautoimmune |
|
Tachycardia, Proptosis |
OMIM:609152 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Microcornea, Torticollis, Proptosis, Peripapillary atrophy |
ORPHA:536467 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... |
ORPHA:2396 |
| Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Deeply set eye, Mitral regur... |
ORPHA:284979 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Webbed neck, Short neck, Lymphedema |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Webbed neck, Short neck, Lymphedema |
ORPHA:99228 |
| Monosomy X |
|
Webbed neck, Short neck, Lymphedema |
ORPHA:99226 |
| Turner Syndrome |
|
Webbed neck, Short neck, Lymphedema |
ORPHA:881 |
| Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki... |
OMIM:608328 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Epicanthus, Highly arched eyebrow, Hypertelorism, Ectopia pupillae, Proptosis, Ir... |
OMIM:194190 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Proptosis |
ORPHA:370348 |
| Keppen-Lubinsky Syndrome |
|
Proptosis, Opisthotonus, Shallow orbits |
OMIM:614098 |
| Familial Gestational Hyperthyroidism |
|
Proptosis, Hand tremor |
ORPHA:99819 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Okamoto Syndrome |
|
Hypertelorism, Astigmatism, Proptosis, Long palpebral fissure, Aortic valve stenosis, Ptosis |
ORPHA:2729 |
| Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Tachycardia, Hypertelorism, Abnormal eyela... |
OMIM:619488 |
| Iga Pemphigus |
|
Acantholysis |
ORPHA:555905 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Fetal Akinesia Deformation Sequence 1 |
|
Telecanthus, Hypertelorism, Proptosis, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:208150 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
| Pseudoaminopterin Syndrome |
|
Epicanthus, Highly arched eyebrow, Hypertelorism, Proptosis, Blepharophimosis |
ORPHA:221120 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Proptosis |
OMIM:215150 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Proptosis, Hand tremor |
ORPHA:424 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Pfeiffer Syndrome Type 2 |
|
Proptosis, Hypertelorism |
ORPHA:93259 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
| Catel-Manzke Syndrome |
|
Hypertelorism, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Proptosis, Thin eyebrow |
OMIM:616145 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Chorioretinal dysp... |
ORPHA:2556 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Epicanthus, Hypertelorism, Upslanted palpebral fissure, Right ventricular outlet tract obstructio... |
OMIM:180700 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Deeply set eye, Proptosis, Opisthotonus |
ORPHA:508533 |
| Pemphigus Foliaceus |
|
Acantholysis |
ORPHA:79481 |
| Pfeiffer Syndrome Type 3 |
|
Proptosis, Hypertelorism |
ORPHA:93260 |
| Neu-Laxova Syndrome 1 |
|
Ablepharon, Cataract, Hypertelorism, Absent eyelashes, Proptosis, Pterygium |
OMIM:256520 |
| Keppen-Lubinsky Syndrome |
|
Proptosis, Opisthotonus, Shallow orbits |
ORPHA:435628 |
| Holoprosencephaly 3 |
|
Cyclopia, Proptosis, Hypotelorism |
OMIM:142945 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Proptosis, Optic atrophy, Chorioretinal coloboma |
OMIM:210730 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Entropion, Hypertelorism, Right bundle branch bloc... |
OMIM:617402 |
| Meester-Loeys Syndrome |
|
Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:300989 |
| Pycnodysostosis |
|
Proptosis |
ORPHA:763 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
| Campomelic Dysplasia |
|
Proptosis, Hypertelorism |
ORPHA:140 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Proptosis, Hyperpigmentation of the skin |
ORPHA:90154 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Telangiectasia of the skin, Tran... |
ORPHA:286 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Proptosis |
OMIM:615349 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Hypotelorism, Proptosis, Chorioretinal coloboma, Cyclopi... |
OMIM:157170 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction |
ORPHA:268 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypertelorism, Hypovole... |
ORPHA:91387 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Proptosis |
OMIM:207410 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Polycythemia, Anemia |
OMIM:600376 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal... |
OMIM:175780 |
| Eisenmenger Syndrome |
|
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... |
ORPHA:97214 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Sparse eyebrow, Mitral regurgitation, Proptosis, Shallow orbits |
OMIM:619127 |
| Fontaine Progeroid Syndrome |
|
Tricuspid regurgitation, Aplastic/hypoplastic lacrimal glands, Hypertelorism, Synophrys, Proptosi... |
OMIM:612289 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Optic nerve compression, Optic atrophy, Proptosis |
OMIM:612301 |
| 1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Dilated cardiomyopathy, Ocular albinism, Optic... |
ORPHA:1606 |
| Chime Syndrome |
|
Epicanthus, Corneal opacity, Hypertelorism, Upslanted palpebral fissure, Retinal coloboma, Ptosis |
ORPHA:3474 |
| Roberts Syndrome |
|
Cataract, Proptosis, Hypertelorism |
ORPHA:3103 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Sparse eyebrow, Synophrys, Buphthalmo... |
ORPHA:495875 |
| Atelosteogenesis, Type I |
|
Proptosis, Hypertelorism |
OMIM:108720 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Mitral regurgitation, Proptosis, Ectopia lentis |
OMIM:271640 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Mullegama-Klein-Martinez Syndrome |
|
Proptosis, Curly eyelashes |
OMIM:301022 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op... |
ORPHA:649 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Polycythemia, Anemia |
OMIM:187300 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
| Camurati-Engelmann Disease |
|
Optic nerve compression, Proptosis |
OMIM:131300 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Mottled pigmentation, Proptosis |
OMIM:248370 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Abnormality of sk... |
ORPHA:920 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Craniosynostosis And Dental Anomalies |
|
Papilledema, Proptosis, Downslanted palpebral fissures, Hypertelorism |
OMIM:614188 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Loss of eyelashes, Downslanted palpebral fissures, Proptosis, Thin eyebrow |
ORPHA:2636 |
| Tangier Disease |
|
Corneal opacity, Ectropion |
ORPHA:31150 |
| Proximal Renal Tubular Acidosis |
|
Cataract, Hypovolemia, Band keratopathy |
ORPHA:47159 |
| Meningioma |
|
Papilledema, Syncope, Proptosis, Cerebral hemorrhage |
ORPHA:2495 |
| Schinzel-Giedion Syndrome |
|
Hypertelorism, Proptosis, Shallow orbits |
ORPHA:798 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Proptosis |
ORPHA:93315 |
| Osteogenesis Imperfecta, Type Viii |
|
Proptosis |
OMIM:610915 |
| Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Proptosis, Hypertelorism |
OMIM:309350 |
| Camurati-Engelmann Disease |
|
Hypertrophic cardiomyopathy, Optic nerve compression, Optic atrophy, Proptosis |
ORPHA:1328 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
| Stevens-Johnson Syndrome |
|
Acantholysis |
ORPHA:36426 |
| Toxic Epidermal Necrolysis |
|
Acantholysis |
ORPHA:537 |
| Yunis-Varon Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Hypertelorism, Sparse eyebrow, Heart murmur... |
OMIM:216340 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Hypertension, Proptosis, Sparse eyelashes |
OMIM:210710 |
| Robinow Syndrome |
|
Proptosis, Pulmonic stenosis, Hypertelorism |
ORPHA:97360 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Proptosis, Hypertelorism |
OMIM:130070 |
| Viss Syndrome |
|
Ptosis, Epidural hemorrhage, Retinal detachment, Hypertelorism, Deeply set eye, Proptosis, Long p... |
OMIM:619472 |
| Isolated Exencephaly |
|
Proptosis |
ORPHA:563612 |
| Loeys-Dietz Syndrome 3 |
|
Cataract, Atrial fibrillation, Subarachnoid hemorrhage, Hypertelorism, Mitral regurgitation, Prop... |
OMIM:613795 |
| Orofaciodigital Syndrome Type 4 |
|
Proptosis, Hypertelorism |
ORPHA:2753 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypertensive crisis, Palpitations, Prominent corneal nerve fibers, Hypertension associated with p... |
ORPHA:653 |
| Pallister-Killian Syndrome |
|
Telecanthus, Cataract, Sparse eyelashes, Epicanthus, Hypertelorism, Sparse eyebrow, Hyperpigmente... |
OMIM:601803 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Hypopigmentation of the skin, Xerostomia, Hyperpigmentation of the skin, Acantholysis |
ORPHA:95455 |
| Loeys-Dietz Syndrome 1 |
|
Proptosis, Hypertelorism |
OMIM:609192 |
| Pmm2-Cdg |
|
Pericardial effusion, Anasarca, Lymphedema |
ORPHA:79318 |
| Beckwith-Wiedemann Syndrome |
|
Cardiomyopathy, Proptosis |
OMIM:130650 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Proptosis, Hypertelorism |
OMIM:271665 |
| Loeys-Dietz Syndrome 2 |
|
Proptosis, Hypertelorism |
OMIM:610168 |
| Osteogenesis Imperfecta, Type Vii |
|
Proptosis |
OMIM:610682 |
