Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Spondylosis, Cervical |
|
Spina bifida occulta, Spondylolysis, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
Bardet-Biedl Syndrome 13 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:615990 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... |
OMIM:180210 |
X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
Choroideremia |
|
Choroideremia, Granular macular appearance, Retinal pigment epithelial mottling, Bone spicule pig... |
OMIM:303100 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Chorioretinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Nummular ... |
OMIM:618697 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Macular Dystrophy, Retinal, 2 |
|
Retinal pigment epithelial atrophy, Granular macular appearance, Perifoveal ring of hyperautofluo... |
OMIM:608051 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyl... |
OMIM:615631 |
Retinitis Pigmentosa 39 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613809 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Myelomeningocele, Absence of the sacrum, Anencephaly, Hydrocephalus, Spina bifida ... |
OMIM:182940 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... |
ORPHA:59181 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Central Areolar Choroidal Dystrophy |
|
Choriocapillaris atrophy, Hyperautofluorescent macular lesion, Retinal pigment epithelial mottlin... |
ORPHA:75377 |
Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Isotretinoin Syndrome |
|
Sacral dimple, Cleft palate, Depressed nasal bridge, Spina bifida occulta |
ORPHA:2305 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:620102 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Darier Disease |
|
Skin vesicle, Plantar pits, Anal mucosal leukoplakia, Acrokeratosis, Macule, Hypermelanotic macule |
ORPHA:218 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:613428 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor |
OMIM:606068 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Retinitis Pigmentosa 61 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:614180 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:613801 |
Sprengel Deformity |
|
Spina bifida occulta, Hemivertebrae, Cervical segmentation defect, Scoliosis |
OMIM:184400 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Retinitis Pigmentosa 68 |
|
Retinal atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:615725 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... |
OMIM:617123 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Wide nasal bridge, Vertebral segmentation defect, Abnormal sacrum morphology, Spin... |
ORPHA:1797 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis |
OMIM:616871 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Retinitis Pigmentosa 17 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:600852 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Dowling-Degos Disease |
|
Palmar pits, Skin vesicle, Hyperpigmented papule, Hyperkeratotic papule, Digital pitting scar, Ep... |
ORPHA:79145 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Milia, Localized skin lesion, Hyperkeratotic papule, Skin vesicle, Enamel hypoplasia, Keloids, At... |
ORPHA:79410 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Retinitis Pigmentosa 84 |
|
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of f... |
ORPHA:1802 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Retinitis Pigmentosa 4 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:613731 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Acrofacial Dysostosis, Palagonia Type |
|
Dermal atrophy, Oligodontia, Supernumerary tooth, Spina bifida occulta, Short neck, Aplasia/Hypop... |
ORPHA:1787 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticarial plaque, Erythe... |
ORPHA:64745 |
Bothnia Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Increased OCT-measured foveal thickness, Rod-cone dystrophy, ... |
ORPHA:85128 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Dermatitis Herpetiformis |
|
Skin vesicle, Malabsorption, Edema, Macule, Erythema |
ORPHA:1656 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
Retinitis Pigmentosa 90 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:619007 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poik... |
OMIM:300908 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Retinitis Pigmentosa 80 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617781 |
Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Spina bifida occulta at S1, Abnormal vertebral morphology |
OMIM:102510 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:1178 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Pemphigus Foliaceus |
|
Skin vesicle, Oral ulcer, Annular cutaneous lesion, Scaling skin, Abnormal oral mucosa morphology... |
ORPHA:79481 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy |
OMIM:617879 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema |
ORPHA:2841 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Microvillar PAS-positive secretory granules, Villous atrophy |
OMIM:619445 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Elevated hepati... |
OMIM:619644 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Abnormal foveal morphology, Retinal thinning, Abnormal choroi... |
ORPHA:827 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Retinitis Pigmentosa 69 |
|
Perifoveal hypoautofluorescence, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:615780 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Gingivitis, Skin vesicle, Wide nasal bridge, Delayed eruption of teeth, Skin ulcer, Papule, Scoli... |
ORPHA:2314 |
Retinitis Pigmentosa 6 |
|
Chorioretinal degeneration, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:312612 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Cafe-au-lait spot, Esophageal atresia, Preauricular pit, Fused cervical vertebrae, Sub... |
OMIM:619227 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... |
ORPHA:103907 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Abnormal oral mucosa morphology |
ORPHA:254478 |
Pyoderma Gangrenosum |
|
Skin vesicle, Atrophic scars, Skin ulcer, Papule, Inflammation of the large intestine |
ORPHA:48104 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Bone marrow hypocellularity, Macrocytic anemia, Thr... |
OMIM:300835 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Skin vesicle, Papule, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morp... |
ORPHA:257 |
Nevus Comedonicus Syndrome |
|
Comedo, Spina bifida, Abnormal vertebral morphology, Nevus flammeus, Spina bifida occulta, Scoliosis |
ORPHA:64754 |
Fountain Syndrome |
|
Wide mouth, Kyphosis, Thick lower lip vermilion, Spina bifida, Papule, Everted lower lip vermilio... |
ORPHA:3219 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly, Trimethylaminuria |
OMIM:602079 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, Short neck, Anteverted nares... |
ORPHA:2015 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluoresc... |
OMIM:618144 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pierre-Robin sequence, Long philtrum, Short nose, Everted lower lip vermilion, Thin ... |
OMIM:617877 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Long philtrum, Kyphosis, Vertebral segmentation defect, Spina bifida occulta, Depres... |
ORPHA:2311 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Choriocapillaris atrophy, Retinal thinning, Retinal pigment e... |
ORPHA:41751 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Spina bifida occulta, Preauricular pit |
OMIM:101805 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Hennekam-Beemer Syndrome |
|
Wide nose, Skin vesicle, High palate, Wide nasal bridge, Thick lower lip vermilion, Papule, Macul... |
ORPHA:2135 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Camptodactyly, Lacticaciduria, Anisocytosis, Hepatome... |
OMIM:604273 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Underdeveloped nasal alae, Congenital pyloric atresia, Polyhydramnios, Aplasia cutis congenita, A... |
OMIM:612138 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... |
OMIM:251270 |
Iga Pemphigus |
|
Skin vesicle, Annular cutaneous lesion, Ulcerative colitis, Skin plaque, Oral mucosal blisters, S... |
ORPHA:555905 |
Retinal Cone Dystrophy 4 |
|
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy |
OMIM:610478 |
Wells Syndrome |
|
Edema, Skin vesicle |
ORPHA:901 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Erythema migrans, Oral mucosal blisters |
ORPHA:158681 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Hypoautofluorescent macu... |
OMIM:304020 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Achromatopsia |
|
Retinal pigment epithelial atrophy, Abnormal macular morphology, Retinal pigment epithelial mottl... |
ORPHA:49382 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Spina bifida occulta, Cleft palate, Cleft upper lip, Palmoplantar cutis laxa |
OMIM:268850 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Acrocraniofacial Dysostosis |
|
Preauricular pit, Advanced eruption of teeth, Short philtrum, Spina bifida occulta, Anteverted na... |
ORPHA:949 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Polyhydramnios, Wide nasal bridge, Short lingual frenulum, Microdontia... |
OMIM:617360 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Genu valgum, Hypersplenism, Reduced hemoglobin A, Jaundice, Decrease... |
ORPHA:231226 |
Arthrogryposis, Distal, Type 2A |
|
Underdeveloped nasal alae, Polyhydramnios, High palate, Long philtrum, Wide nasal bridge, Short n... |
OMIM:193700 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Skin tags, High palate, Bifid uvula, Nasal polyposis, Median cleft lip |
OMIM:155145 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Long philtrum, Bifid uvula, Depressed nasal bridge, Anteverted nares, Thin vermilion border |
OMIM:615942 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Hyperlordosis, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Submucous cleft hard pa... |
ORPHA:2780 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Chorioretinal atrophy, Macular coloboma, Pigmentary retinopathy, Nummul... |
OMIM:613835 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Dry skin, Scoliosis, Abnormality of the dentition |
ORPHA:177 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Short philtrum, Short nose, Spina bifida occulta, Downturned corners of mouth, Short ne... |
ORPHA:2983 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Hydrocephalus, Death in infancy |
OMIM:258320 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Fetal Akinesia Deformation Sequence 4 |
|
Polyhydramnios, Prenatal death, High palate, Kyphosis, Wide nasal bridge, Short neck, Neonatal death |
OMIM:618393 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:612572 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ce... |
OMIM:614172 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180100 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Myelomeningocele, Ectopic anus, Block vertebrae, Vertebral segmentation defect,... |
OMIM:613686 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
Retinitis Pigmentosa 77 |
|
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:617304 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613756 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Clinodactyly, Erythroid hypoplasi... |
OMIM:612541 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:613767 |
Pai Syndrome |
|
Skin tags, Encephalocele, Bifid uvula, Nasal polyposis, Abnormal oral frenulum morphology, Midlin... |
ORPHA:1993 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Narrow nasal bridge, Short nose |
ORPHA:1514 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... |
OMIM:604116 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Umbilical hernia, Rectal prolapse, Narrow palate, Wide nasal bridge, Delayed eruption of teeth, P... |
OMIM:235510 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Retinitis Pigmentosa 83 |
|
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... |
OMIM:618173 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... |
ORPHA:71275 |
Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... |
OMIM:618779 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, Tethered cord |
OMIM:615281 |
Leber Congenital Amaurosis 2 |
|
Attenuation of retinal blood vessels, Fundus atrophy, Optic disc pallor, Pigmentary retinopathy, ... |
OMIM:204100 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Lowry-Maclean Syndrome |
|
Preauricular pit, Cleft palate, Convex nasal ridge, Delayed eruption of teeth |
OMIM:600252 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Abnormal nostril morphology, Striae distensae, Patchy distortion of vertebrae... |
ORPHA:1248 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Congenital Stationary Night Blindness |
|
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... |
ORPHA:215 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Angular cheilitis, Skin vesicle |
OMIM:613102 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morphology, Anisocyto... |
ORPHA:98870 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... |
ORPHA:486 |
Carey-Fineman-Ziter Syndrome 2 |
|
Underdeveloped nasal alae, Abnormal nasal septum morphology, Long philtrum, Velopharyngeal insuff... |
OMIM:619941 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Abnormal metaphysis morphology, Splenomegaly, Hepatomegaly |
ORPHA:417 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:600105 |
Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle, Narrow palate, Depressed nasal ridge, Wide nasal bridge, Deep philtrum, Severe peri... |
ORPHA:99843 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Anemia, Cirrhosis, Hypogonadism, Elevated hepatic transaminase, Hepatomegaly, S... |
OMIM:613313 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... |
ORPHA:79435 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Three M Syndrome 1 |
|
Hyperlordosis, Increased vertebral height, Long philtrum, Thick lower lip vermilion, Spina bifida... |
OMIM:273750 |
White Forelock With Malformations |
|
Spina bifida occulta, Abnormal palate morphology, Deep philtrum |
ORPHA:2475 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Generalized aminoaciduria, Hepatomegaly, Acute hepatic failure, Splenom... |
ORPHA:882 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Hematuria, Poikilocytosis, Oroticaciduria, Anisocytos... |
OMIM:258900 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Nephropathy, Lymphadenopathy, Hepatomegaly, Bence Jones Proteinuri... |
ORPHA:100024 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Holoprosencephaly 4 |
|
Absent nasal septal cartilage, Median cleft lip and palate, Median cleft lip, Depressed nasal bri... |
OMIM:142946 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... |
ORPHA:506353 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Spina bifida occulta, Downturned corners of mouth, Anteverted nares, Thick vermilion ... |
ORPHA:1185 |
Retinitis Pigmentosa 2 |
|
Rod-cone dystrophy, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Pigmentar... |
OMIM:312600 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Acrofacial Dysostosis, Catania Type |
|
Preauricular pit, Short nose, Spina bifida occulta, Abnormal palate morphology, Tooth agenesis, S... |
ORPHA:1786 |
Anencephaly 2 |
|
Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Median cleft lip |
OMIM:619452 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Supernumerary tooth, Abnormal sacrum morphology, Spina bifida occulta,... |
ORPHA:1452 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, High palate, Myelomeningocele, Spina bifida, Hydrocephalus, Tracheoesoph... |
ORPHA:2437 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
Oliver-Mcfarlane Syndrome |
|
Retinal degeneration, Pigmentary retinopathy, Central heterochromia |
OMIM:275400 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Hepatomegaly, Thrombocytopenia, ... |
OMIM:610539 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Photoreceptor layer loss on macular OCT, Retinal thinning, Retinal pigment epithelial mottling, M... |
OMIM:145350 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Spina bifida occulta, Gastrointestinal hemorrhage |
ORPHA:230839 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... |
OMIM:235700 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... |
OMIM:615234 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Carpenter Syndrome 1 |
|
Sacral dimple, High palate, Preauricular pit, Agenesis of permanent teeth, Spina bifida occulta, ... |
OMIM:201000 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation |
ORPHA:2196 |
Orofaciodigital Syndrome Xix |
|
Underdeveloped nasal alae, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongu... |
OMIM:620107 |
Porphyria Variegata |
|
Milia, Back pain, Localized skin lesion, Skin vesicle, Skin erosion, Ileus |
ORPHA:79473 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Cone/cone-rod dystrophy, Macular degeneration, Abnormality of re... |
OMIM:605549 |
Nephronophthisis 19 |
|
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... |
OMIM:616217 |
Townes-Brocks Syndrome 2 |
|
Spina bifida occulta, Rectovaginal fistula, Scoliosis, Anal atresia |
OMIM:617466 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Villous atrophy |
OMIM:600955 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema, High palate, Choanal atresia |
OMIM:613611 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Choanal stenosis, Pierre-Robin sequence, Cleft soft palate, Cafe-au-lait spot, Thin upper lip ver... |
OMIM:620183 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Scoliosis |
OMIM:618736 |
Bamforth-Lazarus Syndrome |
|
Cleft palate, Polyhydramnios, Choanal atresia |
OMIM:241850 |
Mucopolysaccharidosis, Type Ix |
|
Depressed nasal bridge, Bifid uvula, Submucous cleft hard palate, Lumbar scoliosis |
OMIM:601492 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Distal Monosomy 10Q |
|
Prominent nose, High palate, Wide nasal bridge, Anal atresia, Short nose, Spina bifida occulta, T... |
ORPHA:96148 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... |
ORPHA:95427 |
Dyskeratosis Congenita |
|
Skin vesicle, Periodontitis, Malabsorption, Hypodontia, Taurodontia, Esophageal stenosis, Skin ul... |
ORPHA:1775 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental malocclusion, Cleft upper lip, Polyhydramnios, Pierre-Robin sequence, High palate, Wide na... |
OMIM:300373 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Sandal gap, Ascites, Splenom... |
ORPHA:1046 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated circulating aspar... |
OMIM:620010 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Nevus, High palate, Long philtrum, Vertebral segmentation defect, Spina bifida occulta, Aplasia/H... |
ORPHA:2990 |
Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:64755 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Limb Body Wall Complex |
|
Encephalocele, Myelomeningocele, Wide nasal bridge, Spina bifida, Short umbilical cord, Progressi... |
ORPHA:2369 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Polyhydramnios, Kyphosis, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Bifid uvula, Spina bifida occulta, Cleft palate |
OMIM:119500 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Parietal Foramina 1 |
|
Aplasia cutis congenita of scalp, Cleft palate, Cleft upper lip, Encephalocele |
OMIM:168500 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Eem Syndrome |
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Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation |
ORPHA:1897 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Weismann-Netter Syndrome |
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Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
Immunodeficiency 84 |
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Splenomegaly, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
Pelvis-Shoulder Dysplasia |
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Spina bifida occulta, Back pain, Lumbar hyperlordosis |
OMIM:169550 |
Pyruvate Kinase Deficiency Of Red Cells |
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Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... |
OMIM:266200 |
Van Esch-O'Driscoll Syndrome |
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Sacral dimple, Wide mouth, Esophageal atresia, Bifid uvula, Short nose, Tracheoesophageal fistula... |
OMIM:301030 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti... |
OMIM:618278 |
Robinow Syndrome, Autosomal Dominant 2 |
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Sacral dimple, Dental malocclusion, Cleft soft palate, Long philtrum, Wide mouth, Oligodontia, De... |
OMIM:616331 |
Reese Retinal Dysplasia |
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Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Microvillus Inclusion Disease |
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Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Diprosopus |
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Abnormality of retinal pigmentation |
ORPHA:1681 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Immunodeficiency 27A |
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Anemia, Hepatosplenomegaly, Hypoplasia of the femoral head, Lymphadenopathy, Thrombocytosis, Leuk... |
OMIM:209950 |
Craniosynostosis 6 |
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Spina bifida occulta, Scoliosis |
OMIM:616602 |
Mast Cell Sarcoma |
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Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Microcephaly-Cardiomyopathy Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:2515 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... |
OMIM:619079 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
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Prominent nose, Cleft soft palate, Prominent nasal tip, Short philtrum, Oligohydramnios, Broad co... |
ORPHA:293725 |
Cone-Rod Dystrophy 10 |
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Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610283 |
Encephalopathy Due To Prosaposin Deficiency |
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Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
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Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Congenital Tufting Enteropathy |
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Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... |
ORPHA:92050 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
Leber Congenital Amaurosis 1 |
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Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:204000 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... |
OMIM:618986 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... |
OMIM:194380 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Cleft soft palate, Hydrocephalus, Bifid uvula, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
Oculocutaneous Albinism Type 2 |
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Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Dubowitz Syndrome |
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Sacral dimple, High palate, Wide anterior fontanel, Wide mouth, Delayed eruption of teeth, Malabs... |
ORPHA:235 |
Retinitis Pigmentosa 3 |
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Perifoveal hypoautofluorescence, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:300029 |
Glutathione Synthetase Deficiency |
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Pigmentary retinopathy |
OMIM:266130 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Immunodeficiency 11 |
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Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Harderoporphyria |
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Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Hepatomegal... |
OMIM:618892 |
Bencze Syndrome |
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Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Prostate canc... |
ORPHA:158057 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Spinocerebellar Ataxia 7 |
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Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Hemifacial Hyperplasia With Strabismus |
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Submucous cleft hard palate |
OMIM:141350 |
Dehydrated Hereditary Stomatocytosis |
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Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Aplasia Cutis-Myopia Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:1117 |
Birk-Barel Syndrome |
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Sacral dimple, High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented uppe... |
OMIM:612292 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Sweet Syndrome |
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Skin vesicle, Pyoderma gangrenosum, Skin nodule, Inflammation of the large intestine, Erythematou... |
ORPHA:3243 |
Cryohydrocytosis |
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Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Duane Retraction Syndrome |
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Wide nasal bridge, Hypopigmented skin patches, Everted lower lip vermilion, Spina bifida occulta,... |
ORPHA:233 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
Aicardi-Goutieres Syndrome 6 |
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Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
3Mc Syndrome |
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Hyperlordosis, Abnormal nasal morphology, Caudal appendage, Spina bifida occulta, Downturned corn... |
ORPHA:293843 |
Adducted Thumbs Syndrome |
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Cleft palate, Velopharyngeal insufficiency, High palate, High, narrow palate |
OMIM:201550 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
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Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
Beta-Thalassemia |
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Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Hypogonadotropic hypogonadism, Thrombocytopenia,... |
ORPHA:848 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Short 5th metacarpal, Splenomegaly, Spherocytosis |
ORPHA:66518 |
Senior-Loken Syndrome |
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Retinal dystrophy, Abnormality of retinal pigmentation |
ORPHA:3156 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... |
ORPHA:2502 |
Bile Acid Malabsorption, Primary, 1 |
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Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Galactose Epimerase Deficiency |
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Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis |
OMIM:614328 |
Autoimmune Lymphoproliferative Syndrome |
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Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Bamforth-Lazarus Syndrome |
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Cleft palate, Polyhydramnios, Choanal atresia |
ORPHA:1226 |
Babesiosis |
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Leukopenia, Hepatic failure, Renal insufficiency, Hemolytic anemia, Jaundice, Clinodactyly of the... |
ORPHA:108 |
Severe Early-Childhood-Onset Retinal Dystrophy |
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Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen... |
ORPHA:364055 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
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Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Proximal tubulopathy, Cirrhosis, Abnormality of the liver, Decreased liver functi... |
ORPHA:231222 |
Gray Platelet Syndrome |
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Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased B cell count, Elevated circulating alanine aminotransferase concentration, Nephrotic sy... |
OMIM:615559 |
Splenoportal Vascular Anomalies |
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Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
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Spina bifida occulta |
OMIM:618060 |
Immunodeficiency 76 |
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T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Retinitis Pigmentosa 14 |
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Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Opt... |
OMIM:600132 |
Larsen Syndrome |
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Cleft upper lip, Vertebral fusion, Spondylolysis, Hypodontia, Cervical kyphosis, Spina bifida occ... |
OMIM:150250 |
Zimmermann-Laband Syndrome 1 |
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High palate, Long philtrum, Wide nasal bridge, Delayed eruption of teeth, Wide mouth, Gingival fi... |
OMIM:135500 |
Alpha-Heavy Chain Disease |
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Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Diabetes And Deafness, Maternally Inherited |
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Retinal degeneration, Pigmentary retinopathy |
OMIM:520000 |
Galactosemia Iii |
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Aminoaciduria, Jaundice, Galactosuria, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Cleft hard palate, Broad nasal tip, Scoliosis |
ORPHA:166016 |
Immunodeficiency 64 With Lymphoproliferation |
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Clubbing of fingers, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, H... |
OMIM:618534 |
Kearns-Sayre Syndrome |
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Abnormality of retinal pigmentation |
ORPHA:480 |
Oculocutaneous Albinism Type 1B |
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Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Sjögren-Larsson Syndrome |
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Macular degeneration, Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Lenz-Majewski Hyperostotic Dwarfism |
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Enamel hypoplasia, Choanal stenosis, Thin skin, Cutis laxa, Spina bifida occulta, Anteriorly plac... |
OMIM:151050 |
Retinitis Pigmentosa 72 |
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Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Cleft Velum |
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Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Retinitis Pigmentosa 60 |
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Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Jalili Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
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Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy |
OMIM:264470 |
Hydrolethalus |
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Polyhydramnios, Gingival cleft, Arrhinencephaly, Bifid uvula, Submucous cleft hard palate, Hydroc... |
ORPHA:2189 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Anemia, Abnormality of the pancreas, Lymphopenia, Long fibula, Abnormal metaphysis morphology |
ORPHA:935 |
3Mc Syndrome 1 |
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Sacral dimple, Cleft upper lip, Wide anterior fontanel, Caudal appendage, Dental crowding, Spina ... |
OMIM:257920 |
8Q22.1 Microdeletion Syndrome |
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Lack of skin elasticity, Abnormal nostril morphology, Long philtrum, Depressed nasal ridge, Wide ... |
ORPHA:178303 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
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Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Leukocyte Adhesion Deficiency, Type Iii |
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Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
Retinitis Pigmentosa 51 |
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Macular degeneration, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613464 |
Amyloidosis, Familial Visceral |
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Nephrotic syndrome, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Proteinuria, Splenomegaly |
OMIM:105200 |
Retinitis Punctata Albescens |
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Retinal atrophy, Retinal pigment epithelial mottling, Yellow/white lesions of the retina, Macular... |
ORPHA:52427 |
Enhanced S-Cone Syndrome |
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Pigmentary retinopathy, Retinoschisis, Macular edema, Vitreoretinopathy |
OMIM:268100 |
X-Linked Sideroblastic Anemia |
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Anemia, Elevated hepatic transaminase, Splenomegaly |
ORPHA:75563 |
Sclerosing Cholangitis, Neonatal |
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Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... |
OMIM:617394 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, High palate, Tooth agenesis, Cleft palate, Abnormality of ... |
ORPHA:1135 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Wide nasal bridge, Long philtrum, Short nose, Broad nasal tip, Absent uvula, A... |
OMIM:618529 |
Doors Syndrome |
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Polyhydramnios, Wide nasal bridge, Short lingual frenulum, Spina bifida occulta, Sirenomelia, Cle... |
ORPHA:79500 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft palate, Anosmia, Cleft lip |
OMIM:612370 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Lip pit, Cleft palate |
ORPHA:1072 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Cofs Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1466 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele, Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Tooth a... |
ORPHA:2003 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Heterochromia iridis, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1390 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Leber Congenital Amaurosis |
|
Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Retinitis Pigmentosa 75 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels |
OMIM:617023 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Alagille Syndrome |
|
Butterfly vertebral arch, Vertebral segmentation defect, Short philtrum, Spina bifida occulta, Lo... |
ORPHA:52 |
Chikungunya |
|
Pedal edema, Skin vesicle, Petechiae, Epistaxis, Macule, Joint swelling, Gingival bleeding, Eryth... |
ORPHA:324625 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Acholic stools, Portal fib... |
OMIM:619868 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hemat... |
OMIM:603903 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
Branchiogenic-Deafness Syndrome |
|
Preauricular pit, Submucous cleft hard palate, Preauricular skin tag, Branchial cyst, Branchial f... |
OMIM:609166 |
Bardet-Biedl Syndrome 3 |
|
Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:600151 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... |
ORPHA:507 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Skin ulcer, Hypopigmente... |
ORPHA:464 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Short nose, Ev... |
ORPHA:884 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Fetal Gaucher Disease |
|
Hydrops fetalis, High palate, Death in infancy, Depressed nasal bridge, Anteverted nares, Stillbi... |
ORPHA:85212 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transamina |