Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Spondylosis, Cervical |
|
Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis |
OMIM:184300 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis |
ORPHA:2956 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, 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 lip, Cleft palate |
OMIM:600625 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, 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 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
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 |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... |
OMIM:182940 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Isotretinoin Syndrome |
|
Sacral dimple, Spina bifida occulta, Depressed nasal bridge, Cleft palate |
ORPHA:2305 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Plantar pits, Skin vesicle, Anal mucosal leukoplakia |
ORPHA:218 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
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 |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Hemivertebrae, 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, 7 |
|
Macular degeneration |
OMIM:610149 |
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 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Hyperlordosis, Short neck, Abnormal sacrum morphology, Wide nasal bridge, Cleft... |
ORPHA:1797 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Erythematous papule, A... |
ORPHA:79410 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Facial erythema, Erythematous plaque, Skin vesicle, Palmoplantar erythema, Ery... |
ORPHA:64745 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Short neck, High, narrow palate, Supernumerary tooth, Bulbous nos... |
ORPHA:1787 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Dermatitis Herpetiformis |
|
Macule, Edema, Malabsorption, Erythema, Skin vesicle |
ORPHA:1656 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... |
OMIM:300908 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Pemphigus Foliaceus |
|
Abnormal oral mucosa morphology, Erythema, Oral ulcer, Erythematous plaque, Serpiginous cutaneous... |
ORPHA:79481 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Palmar pits, Digital pitting scar, ... |
ORPHA:79145 |
Acropectorovertebral Dysplasia |
|
Spina bifida occulta at L5, Abnormal vertebral morphology, Spina bifida occulta at S1 |
OMIM:102510 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema |
ORPHA:2841 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
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 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Wide nasal bridge, Cleft palate, Gingivi... |
ORPHA:2314 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular pit, Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tr... |
OMIM:619227 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Abnormal oral mucosa morphology |
ORPHA:254478 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Pyoderma Gangrenosum |
|
Skin ulcer, Atrophic scars, Inflammation of the large intestine, Skin vesicle, Papule |
ORPHA:48104 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin vesicle, ... |
ORPHA:257 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Short neck, Cleft palate, Short nose, Abnormal verteb... |
ORPHA:2015 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Scoliosis, Nevus flammeus, Spina bifida occulta, Abnormal vertebral morphology, Comedo |
ORPHA:64754 |
Fountain Syndrome |
|
Spina bifida, Facial edema, Kyphosis, Thick lower lip vermilion, Subcutaneous nodule, Gingival ov... |
ORPHA:3219 |
Neuronal Intranuclear Inclusion Disease |
|
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2289 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Pierre-Robin sequence, Anterior open... |
OMIM:617877 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Anteverted nares, Depressed nasal bridge, Short neck, Ky... |
ORPHA:2311 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Preauricular pit, Spina bifida occulta |
OMIM:101805 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Rocker bottom foot, Anisocytosis, Renal hypoplasia, Lacticaciduria, Aminoaciduria, ... |
OMIM:604273 |
Hennekam-Beemer Syndrome |
|
Macule, Wide nose, Long nose, Subcutaneous nodule, Thick lower lip vermilion, Erythema, Wide nasa... |
ORPHA:2135 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Anteverted nares, Polyhydramnios, Underdeveloped nasal alae, Congenital pyloric atresia, Neonatal... |
OMIM:612138 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Iga Pemphigus |
|
Oral mucosal blisters, Ulcerative colitis, Annular cutaneous lesion, Skin vesicle, Skin erosion, ... |
ORPHA:555905 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Spina bifida occulta, Sacrococcygeal pilonidal abnormality |
ORPHA:2840 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Wells Syndrome |
|
Skin vesicle, Edema |
ORPHA:901 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Erythema migrans, Oral mucosal blisters |
ORPHA:158681 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thin upper lip vermilion, Redundant neck skin, Short lingual frenulum, Prominent nasal bridge, Po... |
OMIM:617360 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpus... |
ORPHA:231226 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Palmoplantar cutis laxa, Spina bifida occulta, Cleft palate, Cleft upper lip |
OMIM:268850 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
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, Nasal polyposis, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Acrocraniofacial Dysostosis |
|
Preauricular pit, Anteverted nares, Choanal atresia, Prominent nasal bridge, Cleft palate, Abnorm... |
ORPHA:949 |
Arthrogryposis, Distal, Type 2A |
|
Pursed lips, Dental crowding, Kyphoscoliosis, Short neck, Underdeveloped nasal alae, Whistling ap... |
OMIM:193700 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Hyperlordosis, High, narrow palate, Submucous cleft hard palate, Wide ... |
ORPHA:2780 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Depressed nasal bridge, Anteverted nares, Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:615942 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Rhizomelic Chondrodysplasia Punctata |
|
Dry skin, Spina bifida occulta, Scoliosis, Abnormality of the dentition |
ORPHA:177 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bifid uvula, Cleft palate |
OMIM:258320 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Downturned corners of mouth, Thin vermilion border, Short philtrum, Short n... |
ORPHA:2983 |
Fetal Akinesia Deformation Sequence 4 |
|
Polyhydramnios, Short neck, Kyphosis, Wide nasal bridge, High palate, Prenatal death, Neonatal death |
OMIM:618393 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Coffin-Siris Syndrome 11 |
|
Depressed nasal bridge, Cleft soft palate, Esophageal atresia, Bulbous nose, Downturned corners o... |
OMIM:618779 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Pai Syndrome |
|
Encephalocele, Skin tags, Median cleft lip, Depressed nasal bridge, Nasal polyposis, Subcutaneous... |
ORPHA:1993 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Short nec... |
OMIM:613686 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Spina bifida occulta |
ORPHA:1514 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Periorb... |
OMIM:235510 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Lowry-Maclean Syndrome |
|
Preauricular pit, Convex nasal ridge, Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Open bite, Vertebral clefting, Depressed nasal ridge, Short nose, Cleft p... |
ORPHA:1248 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Spina bifida occulta, Tethered cord |
OMIM:615281 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis |
OMIM:613102 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Orotic Aciduria |
|
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Carey-Fineman-Ziter Syndrome 2 |
|
Thin upper lip vermilion, Dental crowding, Anteverted nares, Underdeveloped nasal alae, High, nar... |
OMIM:619941 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Abnormal metaphysis morphology |
ORPHA:417 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
White Forelock With Malformations |
|
Deep philtrum, Spina bifida occulta, Abnormal palate morphology |
ORPHA:2475 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrho... |
OMIM:613313 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Depressed nasal bridge, Palpebral edema, Protruding tongue, Deep philtrum, ... |
ORPHA:99843 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Three M Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Short neck, Hyperlordosis, Increased vertebral height, ... |
OMIM:273750 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... |
ORPHA:100024 |
Holoprosencephaly 4 |
|
Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med... |
OMIM:142946 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Downturned corners of mouth, Thick vermilion border, Short nose, Spina bifida o... |
ORPHA:1185 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormality... |
ORPHA:1452 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Preauricular pit, Abnormality of the dentition, Carious teeth, Tooth agenesis, S... |
ORPHA:1786 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Czeizel-Losonci Syndrome |
|
Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula... |
ORPHA:2437 |
Chromosome 22Q11.2 Duplication Syndrome |
|
Depressed nasal ridge, Velopharyngeal insufficiency, High palate |
OMIM:608363 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro... |
OMIM:610539 |
Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Orofaciodigital Syndrome Xix |
|
Thick nasal alae, Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Carious ... |
OMIM:620107 |
Porphyria Variegata |
|
Back pain, Localized skin lesion, Ileus, Skin vesicle, Skin erosion, Milia |
ORPHA:79473 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Spina bifida occulta |
ORPHA:230839 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Anencephaly 2 |
|
Bifid nose, Median cleft lip, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Carpenter Syndrome 1 |
|
Preauricular pit, Sacral dimple, Depressed nasal bridge, Short neck, Persistence of primary teeth... |
OMIM:201000 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Distal Deletion 10Q |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Prominent nasal bridge, Prominent nose, Wide nasa... |
ORPHA:96148 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, High palate, Choanal atresia, Lymphedema |
OMIM:613611 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Scoliosis |
OMIM:618736 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Sandal gap, Splenomegaly, Abnormality of the ureter, Ascites, A... |
ORPHA:1046 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Increased nuchal translucency, Pierre-Robin sequence... |
OMIM:620183 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom... |
OMIM:620010 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Mucopolysaccharidosis, Type Ix |
|
Depressed nasal bridge, Submucous cleft hard palate, Lumbar scoliosis, Bifid uvula |
OMIM:601492 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Anal stenosis, Dental crowding, Intestinal malrotation, Polyhydramnios, Cleft upper ... |
OMIM:300373 |
Dyskeratosis Congenita |
|
Macule, Esophageal stenosis, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Abnormality o... |
ORPHA:1775 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aplasia/Hypoplasia of the skin, Nevus, Abnormality of the tongue, Cleft palate, Orofacial cleft, ... |
ORPHA:2990 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Bamforth-Lazarus Syndrome |
|
Bilateral choanal atresia, Polyhydramnios, Cleft palate |
OMIM:241850 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Townes-Brocks Syndrome 2 |
|
Scoliosis, Spina bifida occulta, Rectovaginal fistula, Anal atresia |
OMIM:617466 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Limb Body Wall Complex |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Spina bifida, Cleft lip, Myelomeningocele... |
ORPHA:2369 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Polyhydramnios, Kyphosis, Scoliosis, Spina bifida occulta |
OMIM:618291 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Spina bifida occulta, Bifid uvula |
OMIM:119500 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Broad nasal tip, Wide nasal bridge, Cleft palate, Neonatal death |
OMIM:615524 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Parietal Foramina 1 |
|
Encephalocele, Aplasia cutis congenita of scalp, Cleft palate, Cleft upper lip |
OMIM:168500 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Sacral dimple, Dental crowding, Cleft soft palate, Kyphoscoliosis, Abno... |
OMIM:616331 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2515 |
Acute Generalized Exanthematous Pustulosis |
|
Facial edema, Cheilitis, Scaling skin, Skin vesicle, Purpura |
ORPHA:293173 |
Craniosynostosis 6 |
|
Spina bifida occulta, Scoliosis |
OMIM:616602 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Prominent nose, Bulbous nose, Depressed nasal tip, Short philtrum, Prominent n... |
ORPHA:293725 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Downturned ... |
OMIM:301030 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Sacral dimple, Depressed nasal bridge, Abnormality of t... |
ORPHA:235 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... |
ORPHA:158057 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
Birk-Barel Syndrome |
|
Sacral dimple, Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft pala... |
OMIM:612292 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels |
OMIM:204000 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Duane Retraction Syndrome |
|
Anteverted nares, Short neck, Hypopigmented skin patches, Abnormal form of the vertebral bodies, ... |
ORPHA:233 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta |
OMIM:618060 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria |
OMIM:230350 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short 5th metacarpal |
ORPHA:66518 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate |
OMIM:201550 |
3Mc Syndrome |
|
Hyperlordosis, Abnormal nasal morphology, Orofacial cleft, Downturned corners of mouth, Prominent... |
ORPHA:293843 |
Bamforth-Lazarus Syndrome |
|
Polyhydramnios, Choanal atresia, Cleft palate |
ORPHA:1226 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Sweet Syndrome |
|
Skin nodule, Pyoderma gangrenosum, Erythematous plaque, Inflammation of the large intestine, Skin... |
ORPHA:3243 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Larsen Syndrome |
|
Vertebral fusion, Depressed nasal bridge, Cervical kyphosis, Cleft upper lip, Spinal cord compres... |
OMIM:150250 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
8Q22.1 Microdeletion Syndrome |
|
Short neck, Abnormality of the dentition, Submucous cleft hard palate, Depressed nasal ridge, Lac... |
ORPHA:178303 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Clinodactyly of the 5th toe, Splenomegaly, J... |
ORPHA:108 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Broad nasal tip, Gingival overgrowth, Gingival fibromatosis, Wide nasa... |
OMIM:135500 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate, Scoliosis, Broad nasal tip |
ORPHA:166016 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Choanal atresia, Abnormality of the dentition, Hemivertebrae, Cleft palate, Cutis laxa, Anteriorl... |
OMIM:151050 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia |
ORPHA:935 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Abnormality of the dentition, Broad nasal tip, Short nose, G... |
OMIM:618529 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
3Mc Syndrome 1 |
|
Sacral dimple, Dental crowding, Cleft upper lip, Cleft lip, Wide anterior fontanel, Cleft palate,... |
OMIM:257920 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... |
ORPHA:1135 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia |
ORPHA:75563 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Hydrolethalus |
|
Polyhydramnios, Hydrocephalus, Submucous cleft hard palate, Anencephaly, Cleft palate, Gingival c... |
ORPHA:2189 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1466 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Anosmia, Cleft palate |
OMIM:612370 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Bilater... |
ORPHA:2003 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Doors Syndrome |
|
Short lingual frenulum, Polyhydramnios, Hemivertebrae, Downturned corners of mouth, Widely spaced... |
ORPHA:79500 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
Alagille Syndrome |
|
Long nose, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short philtrum, ... |
ORPHA:52 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Preauricular pit, Submucous cleft hard palate, Preauricular sk... |
OMIM:609166 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology |
ORPHA:2204 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepatic bridg... |
OMIM:616719 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Erythem... |
ORPHA:464 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Short neck, Abnormal soft ... |
ORPHA:884 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Fetal Gaucher Disease |
|
Death in infancy, Anteverted nares, Depressed nasal bridge, Hydrops fetalis, Stillbirth, High pal... |
ORPHA:85212 |
Lymphangiectasia, Intestinal |
|
Edema, Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia |
OMIM:152800 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... |
OMIM:617412 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Chikungunya |
|
Macule, Epistaxis, Facial edema, Erythema, Pedal edema, Joint swelling, Gingival bleeding, Skin v... |
ORPHA:324625 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Cleft upper lip, Depressed nasal ridge, Cleft palate, Hypoplastic sacral vertebrae, B... |
OMIM:105650 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ... |
ORPHA:250999 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Leopard Syndrome 1 |
|
Kyphoscoliosis, Short neck, Depressed nasal ridge, Cleft palate, Cafe-au-lait spot, Multiple lent... |
OMIM:151100 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Few cafe-au-lait spots, Dental crowding, Protruding tongue, Broad nasal tip, Submucous cleft hard... |
OMIM:618106 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Prominent nasal bridge, Abnormality of the den... |
ORPHA:2712 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Frontometaphyseal Dysplasia |
|
Wide nasal bridge, Cleft palate, Fused cervical vertebrae, Oligodontia, Scoliosis, Keloids, Spina... |
ORPHA:1826 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Oral mucosal blisters, Congenital... |
OMIM:619817 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Nephrotic syn... |
ORPHA:39041 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow greater sc... |
OMIM:602271 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Polyhydramnios, Prominent nose, High, narrow palate, High palate, Spina bifida o... |
OMIM:180849 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida |
ORPHA:99742 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Baller-Gerold Syndrome |
|
Anteriorly placed anus, Choanal stenosis, High palate, Spina bifida occulta, Abnormal vertebral m... |
OMIM:218600 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Enterocolitis |
OMIM:616050 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Narrow nose, Broad nasal tip, Rectov... |
OMIM:300707 |
Stickler Syndrome, Type I |
|
Anteverted nares, Depressed nasal bridge, Kyphosis, Submucous cleft hard palate, Pierre-Robin seq... |
OMIM:108300 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Duane-Radial Ray Syndrome |
|
Anal stenosis, Abnormal nasopharynx morphology, Aganglionic megacolon, Choanal atresia, Fused cer... |
OMIM:607323 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... |
OMIM:121300 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Glossoptosis... |
ORPHA:3201 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Chronic kidney disease, Cholestasis, Cone... |
OMIM:615630 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Numerous nevi, Short neck, Broad nasal tip, Depressed nasal tip, Wide nasal base, Spina bifida oc... |
ORPHA:488434 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency,... |
OMIM:614701 |
Noonan Syndrome With Multiple Lentigines |
|
Subcutaneous nodule, Wide nasal bridge, Melanocytic nevus, Excessive wrinkled skin, Multiple lent... |
ORPHA:500 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis, Foot oligodact... |
OMIM:616589 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Kyphoscoliosis, Polyhydramnios, Platyspondyly, Abnormality of the vertebral co... |
ORPHA:93316 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Prominent ... |
OMIM:608670 |
Schilbach-Rott Syndrome |
|
Prominent nose, Long nose, Submucous cleft hard palate, Narrow mouth, Bifid uvula |
OMIM:164220 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Anteverted nares, Depressed nasal bridge, Submucous cleft hard palate, Wide nasal bridge, Irregul... |
OMIM:222765 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp... |
OMIM:228000 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, High palate, Bifid uvula |
OMIM:601110 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites, Me... |
OMIM:269920 |
Peters Plus Syndrome |
|
Polyhydramnios, Short neck, Widely spaced teeth, Spina bifida occulta, Preauricular pit, Intestin... |
ORPHA:709 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... |
ORPHA:398124 |
W Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, Agenesis of maxillary centr... |
ORPHA:2804 |
Roifman Syndrome |
|
Hepatomegaly, Short metacarpal, Hip contracture, Eosinophilia, Splenomegaly, Short toe, Irregular... |
OMIM:616651 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp... |
ORPHA:158061 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Colitis |
OMIM:614602 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Anteverted nares, Submucous cleft hard palate, Unilateral cleft lip, Six lumbar vertebrae, Unilat... |
OMIM:619122 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Polyhydramnios, Esophageal... |
OMIM:619859 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Short philtrum, High palate, Microdontia, Spina bifida occulta, Depressed nasal br... |
OMIM:135900 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... |
OMIM:618641 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis |
OMIM:602390 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Achondrogenesis, Type Ii |
|
Absent vertebral body mineralization, Edema, Polyhydramnios, Hydrops fetalis, Cleft palate, Still... |
OMIM:200610 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Submucous cleft hard p... |
OMIM:114300 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Overhanging nasal tip, Cleft soft palate, Eosinophilic infiltration o... |
OMIM:615582 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Narrow nasal bridge, Cleft ala nasi, Intestinal malrotation, Focal der... |
OMIM:305600 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Abnormal metaphysis morphology, Thrombocytopenia |
ORPHA:290 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph... |
OMIM:609033 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Bowing of the long bones, Extramedullary hematopoiesis, Decreas... |
ORPHA:231214 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Shor... |
OMIM:619950 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Chronic Graft Versus Host Disease |
|
Esophageal stricture, Erythema, Xerostomia, Intermittent generalized erythematous papular rash, S... |
ORPHA:99921 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Micronodular cirrhosis, Splen... |
OMIM:606003 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation |
ORPHA:858 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine, Porphyrinuria, Le... |
ORPHA:79277 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina |
ORPHA:100996 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Thoracic scoliosis, Skin tags, Anteverted nares, Short ... |
ORPHA:508488 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... |
ORPHA:90362 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Submucous cleft hard palate, Spinal dysraphism, Bifid uvula... |
OMIM:617660 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Orofaciodigital Syndrome Type 10 |
|
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Short neck, Long philtrum |
ORPHA:2756 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly |
OMIM:617767 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy |
ORPHA:370968 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... |
ORPHA:464329 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Supernumerary tooth, Bulbous nose, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Neona... |
OMIM:620014 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of th... |
OMIM:230800 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Hip dysplasia, ... |
ORPHA:30 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Splenomegaly, Abnormal fibula morphology, Tibial bowing,... |
ORPHA:3035 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Bilat... |
OMIM:610828 |
Neu-Laxova Syndrome 2 |
|
Spina bifida, Short neck, Edema, Polyhydramnios, Depressed nasal ridge, Cleft palate, High palate... |
OMIM:616038 |
Williams Syndrome |
|
Redundant skin, Periorbital edema, Rectal prolapse, Abnormal form of the vertebral bodies, Verteb... |
ORPHA:904 |
Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate... |
OMIM:142945 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Depressed nasal bridge, Pol... |
OMIM:300990 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Cleft soft palate, Short neck, Wide nasal bridge, Submucous cleft soft palate, ... |
ORPHA:2282 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold |
OMIM:108145 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Depressed nasal bridge, Bulbous nose, Thick lower lip vermilion, Submucous cleft hard palate, Wid... |
OMIM:619103 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus |
OMIM:304790 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Depressed nasal bridge, Intestinal malrotation, Abnormality of th... |
ORPHA:35107 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa ... |
OMIM:602557 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Hydrocephalus |
OMIM:619377 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Opsismodysplasia |
|
Hepatomegaly, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone, Abnormal... |
ORPHA:2746 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho... |
ORPHA:540 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Thin upper lip vermilion, Anteverted nares, High, narrow palate, Hydrocephalus, Submucous cleft h... |
OMIM:612863 |
Branchioskeletogenital Syndrome |
|
Short neck, Anteriorly placed anus, Downturned corners of mouth, Short philtrum, Premature loss o... |
ORPHA:1299 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula |
OMIM:619314 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Single naris, Anosmia, Cleft palate, Absent nares, Hyposmia, Failure... |
ORPHA:2250 |
Majeed Syndrome |
|
Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic... |
ORPHA:77297 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria... |
ORPHA:77259 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Knobloch Syndrome 1 |
|
Occipital encephalocele, Depressed nasal bridge, Pyloric stenosis, Bulbous nose, Occipital mening... |
OMIM:267750 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Submucous cleft hard palate, D... |
OMIM:619680 |
Cln3 Disease |
|
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy |
ORPHA:228346 |
Rapp-Hodgkin Syndrome |
|
Depressed nasal bridge, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficien... |
OMIM:129400 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Redundant skin, Depressed nasal bridge, Short neck, Lymphedema, Hydrocephalus, ... |
ORPHA:1340 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno... |
OMIM:216360 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... |
ORPHA:100050 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... |
ORPHA:829 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Spina bifida, Polyhydramnios, Submucous cleft hard palate, Depressed... |
ORPHA:2671 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, T... |
OMIM:259700 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Atrophic gastritis, Colitis, Villous atrophy |
OMIM:614700 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Acetabular dysplasia, Thrombocytopenia, Splenomegaly, Metaphyseal wide... |
OMIM:617303 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft lip, Pierre-Robin sequence... |
OMIM:117650 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color |
ORPHA:90037 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Polyhydramnios, Velopharyngeal insufficiency, Non-midline cleft... |
ORPHA:199302 |
Cardiofaciocutaneous Syndrome 1 |
|
Numerous nevi, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Abnormality of the denti... |
OMIM:115150 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, ... |
OMIM:154500 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Short neck, Aqueductal stenosis, Cleft palate, Narrow mouth, Neonatal death, Convex na... |
OMIM:251230 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Finger swelli... |
OMIM:617591 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Restrictive Dermopathy 1 |
|
Natal tooth, Depressed nasal bridge, Choanal atresia, Kyphoscoliosis, Narrow nasal ridge, Polyhyd... |
OMIM:275210 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase |
OMIM:306000 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Alobar holoprosencephaly, Submucous cleft hard palate, Vertebral clefting, Clef... |
OMIM:301043 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation |
ORPHA:873 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Spina bifida occulta, Nevus, Short neck |
OMIM:611929 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Kyphoscoliosis, Polyhydramnios, Atlantoaxial instability, Cutis laxa, Atrophic... |
OMIM:614557 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Anal atresia |
ORPHA:63260 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... |
OMIM:239200 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:256000 |
Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Native American Myopathy |
|
Cleft palate, Abnormal curvature of the vertebral column, Downturned corners of mouth, High palat... |
ORPHA:168572 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy |
OMIM:613156 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... |
ORPHA:1493 |
Limb-Mammary Syndrome |
|
Cleft hard palate, Cleft lip, Cleft palate, Multiple cafe-au-lait spots, Hypodontia, Submucous cl... |
ORPHA:69085 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... |
ORPHA:264580 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... |
ORPHA:2715 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... |
ORPHA:90033 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia |
OMIM:613280 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur... |
OMIM:170100 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... |
OMIM:300972 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Villous atrophy, Steatorrhea |
OMIM:212065 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
Double Outlet Right Ventricle |
|
Depressed nasal bridge, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow... |
ORPHA:3426 |
Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
Velocardiofacial Syndrome |
|
Underdeveloped nasal alae, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robi... |
OMIM:192430 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Macroglossia, Spina bifida occulta, Thick vermilion border |
ORPHA:500095 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pyloric stenosis, Wide anterior fontanel, Submucous cleft hard palate, ... |
ORPHA:457279 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Jaundi... |
OMIM:603553 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Poland Syndrome |
|
Encephalocele, Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spi... |
ORPHA:2911 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide nose, Anteverted nares, Redundant skin, Underdeveloped nasal alae... |
OMIM:209885 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiva, Depressed nasal... |
ORPHA:2753 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
Mulibrey Nanism |
|
Pigmentary retinopathy |
OMIM:253250 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy |
OMIM:606367 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas... |
OMIM:615895 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... |
OMIM:257220 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha... |
ORPHA:91138 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ul... |
ORPHA:1328 |
Lymphangiectasia, Pulmonary, Congenital |
|
Depressed nasal bridge, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Palpebral... |
OMIM:265300 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
ORPHA:88628 |
Diamond-Blackfan Anemia |
|
Depressed nasal bridge, Cleft soft palate, Nonimmune hydrops fetalis, Short neck, Cleft lip, Wide... |
ORPHA:124 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... |
OMIM:267700 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova... |
ORPHA:79240 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia |
OMIM:605309 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Depressed nasal ridge... |
OMIM:114290 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... |
OMIM:232220 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... |
ORPHA:1655 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Dental crowding, Kyphoscoliosis, Prominent nose, High, narrow palate, Kyphos... |
OMIM:300967 |
Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Hydrocephalus, Downturned corners of mouth, Short nose... |
OMIM:619321 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Redundant skin, Choanal atresi... |
ORPHA:2658 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Short neck, Broad nasal tip, Kyphosis, Deep philtrum, Submucous cleft h... |
OMIM:619194 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
OMIM:613179 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Vertebral clefting, Neonatal death, Abnormal vertebral morphology, Anal at... |
OMIM:615709 |
Oculoauricular Syndrome |
|
Short mandibular rami, Spina bifida occulta |
OMIM:612109 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... |
ORPHA:251066 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling |
OMIM:617102 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sacral dimple, Prominent nasal bridge, Broad nasal tip, Carious teeth,... |
OMIM:223370 |
Mucopolysaccharidosis Type 7 |
|
Metatarsus adductus, Splenomegaly, Hepatitis, Epiphyseal stippling, Mucopolysacchariduria, Abnorm... |
ORPHA:584 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... |
OMIM:300842 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... |
OMIM:216550 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular... |
OMIM:616028 |
Myhre Syndrome |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio... |
ORPHA:2588 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hepatic hema... |
OMIM:193300 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Wide anterior fontanel, Gastroesophageal reflux, Bifid uvula |
ORPHA:79328 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma |
ORPHA:2510 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Enlarged platelet... |
OMIM:608233 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Cleft soft palate, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal ... |
ORPHA:268261 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Wilson Disease |
|
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly... |
OMIM:277900 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:1572 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Fetal ascites, Prominent nose, Deep philtrum, Facial erythema, Downturned corner... |
OMIM:619503 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:85414 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Oliguria, Anemia, Decreased liver function, R... |
ORPHA:90051 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Steatorrhea |
OMIM:557000 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Short toe, Renal hypoplasia... |
OMIM:269860 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
Trichohepatoenteric Syndrome 1 |
|
Large placenta, Villous atrophy, Bifid uvula |
OMIM:222470 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Wolfram Syndrome 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:222300 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Proboscis, Alobar holoprosencephaly, Submucous cleft hard palate, Abse... |
OMIM:157170 |
Tolchin-Le Caignec Syndrome |
|
Prominent nose, Submucous cleft hard palate, Wide nasal bridge, High palate, Narrow mouth, Umbili... |
OMIM:618971 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:585 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Syndromic Diarrhea |
|
Hepatoblastoma, Villous atrophy, Colitis, Gastritis |
ORPHA:84064 |
Aceruloplasminemia |
|
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration |
ORPHA:48818 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... |
OMIM:619573 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Ren... |
OMIM:260920 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki... |
OMIM:249100 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... |
OMIM:619418 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Esophageal carcinoma, Abnormal intestine morphology, Enterocolitis |
ORPHA:391487 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia |
OMIM:214110 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatospl... |
ORPHA:781 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:612582 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Neutrophilia, Abscess |
OMIM:612852 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... |
ORPHA:1969 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ... |
OMIM:610199 |
Zttk Syndrome |
|
Depressed nasal bridge, Abnormality of the dentition, Kyphosis, Submucous cleft hard palate, Hemi... |
OMIM:617140 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy |
ORPHA:79095 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Restrictive Dermopathy |
|
Natal tooth, Thoracic kyphoscoliosis, Aplasia/Hypoplasia involving the nose, Choanal atresia, Pol... |
ORPHA:1662 |
Werner Syndrome |
|
Premature graying of hair, Abnormality of retinal pigmentation, White forelock |
ORPHA:902 |
Meier-Gorlin Syndrome 5 |
|
Submucous cleft hard palate, Thick vermilion border, Long philtrum |
OMIM:613805 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock |
ORPHA:742 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:192 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hy... |
OMIM:222700 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophil... |
ORPHA:3260 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia |
OMIM:613154 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Cohen Syndrome |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... |
ORPHA:193 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Polyhydramnios, Prominent nose, Long nose, Bulbous nose, Submucous cleft hard palate, Bifid uvula... |
ORPHA:3047 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu... |
OMIM:615688 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation |
OMIM:309900 |
Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Macrodactyly, Sandal gap, Renal hypoplasia |
OMIM:612918 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... |
ORPHA:157850 |
Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Hypersplenism, Thrombocytopenia, L... |
ORPHA:1304 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Viss Syndrome |
|
Chronic gastritis, Polyhydramnios, High, narrow palate, High palate, Broad uvula, Bifid uvula, De... |
OMIM:619472 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th... |
OMIM:263700 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom... |
OMIM:269700 |
Marden-Walker Syndrome |
|
Pyloric stenosis, Hydrocephalus, Submucous cleft hard palate, Kyphosis, Cleft palate, Abnormal fo... |
ORPHA:2461 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:436271 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo |
OMIM:240300 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervi... |
ORPHA:50918 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease |
OMIM:619381 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy |
OMIM:609015 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly |
OMIM:231005 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy |
OMIM:203800 |
Usher Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:886 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambiguous genitalia, male, Ab... |
OMIM:249000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:220110 |
Neuromuscular Oculoauditory Syndrome |
|
Chorioretinal lacunae, Retinal pigment epithelial mottling |
OMIM:618733 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hepatomegaly, Femur fracture, Anemia |
OMIM:612301 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, ... |
OMIM:617088 |
Gaisböck Syndrome |
|
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis, Hypernatriur... |
ORPHA:90041 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy... |
OMIM:608594 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Narrow nose |
OMIM:618891 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Prominent nasal bridge, Persistence of primary teeth, Broad nasal tip,... |
OMIM:300166 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Optic disc pallor, Pigmentary retinopathy |
OMIM:214100 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Prominent nos... |
ORPHA:2636 |
Classic Homocystinuria |
|
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:394 |
Coffin-Siris Syndrome 12 |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Celi... |
OMIM:619325 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Nephrocalcinosis |
ORPHA:53715 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614866 |
Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Optic atrophy, Hypermelanotic macule |
ORPHA:90321 |
Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Narrow mo... |
ORPHA:2554 |
Wiedemann-Rautenstrauch Syndrome |
|
Downturned corners of mouth, Hypoplastic vertebral bodies, Short philtrum, Premature loss of teet... |
ORPHA:3455 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... |
OMIM:209900 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
ORPHA:71212 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... |
OMIM:613471 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic... |
ORPHA:191 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, Ret... |
ORPHA:79282 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Depressed nasal bridge, Kyphoscoliosis, Hemivertebrae, Wide nasal bridge, C... |
ORPHA:500150 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:505248 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury, Anemia |
ORPHA:29073 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Hypopi... |
ORPHA:2556 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus |
ORPHA:14 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De... |
ORPHA:77293 |
Trisomy 18 |
|
Abnormality of retinal pigmentation |
ORPHA:3380 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Melas |
|
Pigmentary retinopathy, Optic atrophy, Vitiligo |
ORPHA:550 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... |
ORPHA:580 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation |
ORPHA:175 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation |
ORPHA:466768 |
Mucopolysaccharidosis Type 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
ORPHA:581 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... |
ORPHA:636 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... |
ORPHA:217085 |
Cockayne Syndrome A |
|
Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Abnormality of skin pigmenta... |
OMIM:216400 |
Mowat-Wilson Syndrome |
|
Dental crowding, Cleft hard palate, Widely spaced teeth, Broad columella, Bifid uvula, Abnormal d... |
ORPHA:2152 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy |
OMIM:277400 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
ORPHA:404454 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... |
ORPHA:217093 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Retinal pigment epithelial mottling |
OMIM:607459 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:255210 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Co... |
ORPHA:261537 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Depressed nasal bridge, Cleft upper lip, Wide anterior fontanel, Hydrocephalus, Submucous cleft h... |
OMIM:607872 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
Nijmegen Breakage Syndrome |
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Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo |
OMIM:251260 |
Ramon Syndrome |
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Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Neuroocular Syndrome |
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Sacral dimple, Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spac... |
OMIM:619539 |
Khan-Khan-Katsanis Syndrome |
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Pigmentary retinopathy |
OMIM:618460 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Co... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ... |
OMIM:235730 |
Spondylocarpotarsal Synostosis Syndrome |
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Abnormality of retinal pigmentation |
OMIM:272460 |
Cystinosis, Nephropathic |
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Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... |
OMIM:219800 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Pigmentary retinopathy, Optic atrophy, Hyperpigmentation of the skin, Retinal degeneration |
OMIM:234200 |
Infantile Nephropathic Cystinosis |
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Pigmentary retinopathy |
ORPHA:411629 |
Proteus Syndrome |
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Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... |
ORPHA:744 |
Cockayne Syndrome B |
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Abnormality of skin pigmentation, Pigmentary retinopathy, Optic atrophy |
OMIM:133540 |
Cancer-Associated Retinopathy |
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Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Atypical Werner Syndrome |
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Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... |
ORPHA:79474 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Pigmentary retinopathy |
OMIM:309801 |
Alagille Syndrome 1 |
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Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:118450 |
Lipodystrophy, Familial Partial, Type 7 |
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Pigmentary retinopathy |
OMIM:606721 |