Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Co... |
OMIM:144300 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Corneal arcus, N... |
OMIM:245900 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Woolly Hair |
|
Hypopigmentation of hair, Cataract, Slow-growing hair, Abnormal retinal morphology, Brittle hair,... |
ORPHA:170 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Foam cells with lamellar inclusion... |
OMIM:607616 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... |
OMIM:126070 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis |
OMIM:603813 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract, Premature coronary artery ather... |
OMIM:618463 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Increased LDL cholesterol concentration, Fair hair, Developmental cataract |
OMIM:618808 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis |
OMIM:145750 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Premature coronary artery atherosc... |
OMIM:610947 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... |
OMIM:601706 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism |
OMIM:606952 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Oculocutaneous Albinism, Type Viii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... |
OMIM:619165 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... |
ORPHA:79506 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis |
OMIM:604091 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Small nail, Poikilo... |
OMIM:615631 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
OMIM:603552 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi... |
ORPHA:79476 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Ani... |
OMIM:616959 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o... |
OMIM:619947 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronary artery atherosc... |
ORPHA:140905 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia |
ORPHA:436182 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia, Premature coronary artery at... |
OMIM:618666 |
Albinism, Oculocutaneous, Type Ii |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... |
OMIM:203200 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
White Forelock With Malformations |
|
White forelock, Prominent veins on trunk, Poliosis |
OMIM:277740 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia |
OMIM:618660 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Cholesteryl Ester Storage Disease |
|
Arteriosclerosis, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Sparse scalp hair, Cataract, Abnormal eyebrow morphology, Poliosis, Abnormal ... |
ORPHA:3437 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Type ... |
ORPHA:412 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... |
ORPHA:79433 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia, Hirsu... |
OMIM:612526 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Tangier Disease |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Corneal opacity, Carotid artery stenosis, Thro... |
ORPHA:31150 |
Werner Syndrome |
|
Cataract, Hypertriglyceridemia, Elevated hemoglobin A1c, Premature arteriosclerosis, Alopecia of ... |
OMIM:277700 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... |
OMIM:224120 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Carotid artery stenosis, Elevated circulating sitos... |
OMIM:210250 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal retinal morphology, Albinism |
ORPHA:2786 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:614480 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles... |
OMIM:615947 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin... |
OMIM:300635 |
Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Hypertriglyceridemia, Coronary artery atherosclerosis |
OMIM:608600 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo... |
ORPHA:573 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Hyperlipidemia, Premature... |
ORPHA:79477 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells |
OMIM:620282 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Albinism, Oculocutaneous, Type Vi |
|
Hypoplasia of the fovea, Generalized hypopigmentation, Fair hair |
OMIM:113750 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypop... |
ORPHA:79432 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Intracranial h... |
ORPHA:363618 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia, Corona... |
OMIM:144010 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Stroke |
OMIM:613877 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hepatic fo... |
OMIM:278000 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Increased LDL cholesterol concentration, Aorti... |
ORPHA:209902 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Stroke, Hypercholesterolemia, Coro... |
OMIM:615812 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis |
ORPHA:1192 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Hyper... |
OMIM:604367 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Macular coloboma, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Splenomegaly, Abnormality of the nail, Coronary artery atherosclerosis, Gen... |
ORPHA:2348 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy |
ORPHA:71 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Splenomegaly, Prominent veins on trunk, Hyperuricemia, Coronary artery athe... |
ORPHA:79083 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ... |
OMIM:606519 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypercholesterolemia, Synophrys, Hypertriglyceridemia |
OMIM:182290 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia |
OMIM:619013 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceridemia,... |
OMIM:203800 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Peripheral arterial stenosis, Increased mean corpuscular hemo... |
ORPHA:90041 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Congenital Generalized Lipodystrophy |
|
Prominent superficial veins, Hypertriglyceridemia, Increased C-peptide level, Low anterior hairli... |
ORPHA:528 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis |
OMIM:185500 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Coronary artery atherosclerosis |
OMIM:143890 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Takayasu Arteritis |
|
Vasculitis, Arterial stenosis, Anemia, Ascending tubular aorta aneurysm, Retinopathy, Vascular di... |
ORPHA:3287 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Generalized hirsutism |
ORPHA:363400 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism |
OMIM:614072 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Preco... |
ORPHA:280365 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Xanthelasma, Opacification of the corneal stroma, Athero... |
ORPHA:425 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Albinism, Oculocutaneous, Type Ia |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... |
OMIM:203100 |
Mandibuloacral Dysplasia |
|
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormality of skin ... |
ORPHA:2457 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Histiocytosis, Microcytic anemia, He... |
ORPHA:168569 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... |
ORPHA:999 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Synophrys, Microcornea, Hypercholesterolemia |
ORPHA:819 |
Alagille Syndrome 1 |
|
Cataract, Hypertriglyceridemia, Band keratopathy, Abnormal anterior chamber morphology, Chorioret... |
OMIM:118450 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Distichiasis, Peripheral arterial stenosis |
OMIM:126320 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Silver-gray... |
ORPHA:381 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Hypertriglyceridemia, Abnormal granulocyte morphology, Abnormal circulating creatine ki... |
ORPHA:98907 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Vascular dilatation, Ocular albinism, Blue irides, Hypopigmented ... |
OMIM:611584 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Congenital Erythropoietic Porphyria |
|
Hypopigmentation of the skin, Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulati... |
ORPHA:79277 |
Grange Syndrome |
|
Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Hyperpigmentation of the skin |
OMIM:617575 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil... |
OMIM:214500 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Hermansky-Pudlak Syndrome 11 |
|
Hypoplasia of the fovea, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense gra... |
OMIM:619172 |
Seckel Syndrome 10 |
|
Retinal detachment, Abdominal aortic aneurysm, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Precocious atherosclerosis, Hyperlipidemia, Hepatosplenomegaly, Increased c... |
ORPHA:444490 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... |
ORPHA:3214 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Increased circulating farnesol concentration, Decreased LDL cholesterol c... |
OMIM:618156 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Alopecia, Vitreous floaters, Poliosis, Vitritis, Retin... |
ORPHA:79098 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Abnormal hair whorl, Premature graying of hair, Premature ... |
ORPHA:79474 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Conjunctivitis, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Precocious atherosclerosis, Hypersple... |
ORPHA:275761 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... |
OMIM:208000 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair |
OMIM:229200 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Hypertriglyceridemia, Carotid artery stenosis, Prominent veins on trunk, Varicose veins... |
ORPHA:536532 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun... |
ORPHA:136 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:613027 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hirsutism... |
OMIM:613327 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Hyper... |
OMIM:151660 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... |
ORPHA:247691 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Nail dystrophy, Small nail |
OMIM:610644 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... |
ORPHA:3322 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia, Synophrys, Long eyelashes, Thick eyebrow |
ORPHA:289522 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperl... |
ORPHA:391665 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:66628 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Lymphopenia, Multiple cafe-au-lait spots |
ORPHA:100 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Generalize... |
ORPHA:2720 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Vascular dilatation, Patent ductus arteriosus, Hypopigment... |
ORPHA:2637 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol... |
ORPHA:79240 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hypopigmentation of the skin, Elevated ... |
OMIM:615980 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:179494 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... |
ORPHA:90354 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of... |
OMIM:600142 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Methanol Poisoning |
|
Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Intracranial hemorrhage, Abnormal... |
ORPHA:31825 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Hypermelanotic macule, Transient ischemic attack, Thrombocytopenia, Hyperlipidem... |
ORPHA:1830 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Acquired Generalized Lipodystrophy |
|
Generalized hyperpigmentation, Abnormal circulating lipid concentration, Generalized hirsutism, H... |
ORPHA:79086 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Stroke-like episode |
ORPHA:70472 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Hypopigmentation of hair, Brittle hair, Lymphopenia, Thromb... |
ORPHA:84064 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Choroideremia, Anemia, Iris... |
ORPHA:2719 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma... |
ORPHA:79430 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Hypertriglyceridemia, Cataract, Pulmonary arteriovenous malformation, Developm... |
OMIM:606721 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Macular atrophy, Splenomegaly, Polysplenia, Anemia |
OMIM:619418 |
Waardenburg Syndrome, Type 1 |
|
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur... |
OMIM:193500 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Pseudoxanthoma Elasticum |
|
Abnormal cerebral vascular morphology, Retinal hemorrhage, Angioid streaks of the fundus, Arteria... |
ORPHA:758 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Macular a... |
OMIM:242840 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Patent ductus arteriosus, Arterial stenosis, Leukocoria, Arteriovenous malfor... |
ORPHA:1556 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Decreased circulating cortisol level, Hyperbilirubinemia |
OMIM:609734 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Astigmatism, Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... |
ORPHA:636 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Pulmonary artery stenosis, Arterial stenosis, Keratoglobus, Aortic root aneurysm, Ab... |
ORPHA:3342 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hyperchole... |
ORPHA:79259 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Hyperlipidemia, Breast aplasia... |
ORPHA:90153 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, P... |
OMIM:259900 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation, Splenomegaly, Hyperlipidemia |
ORPHA:1414 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Prominent superficial veins, Hyperlipidemia, Sparse hair, Mottled pigment... |
OMIM:608612 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti... |
ORPHA:238468 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch... |
ORPHA:71493 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Absent eyebrow, Cataract, Hypertriglyceridemia, Alopecia, Sparse eyelashes, Pr... |
OMIM:264090 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Nail dystrophy, Sparse hair |
OMIM:619127 |
Menkes Disease |
|
Hypopigmentation of hair, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Abnor... |
ORPHA:565 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, Vacuolated lymp... |
ORPHA:565612 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, Hyperpigmentation... |
ORPHA:90154 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor... |
ORPHA:233 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Splenomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Hirsutism |
OMIM:269700 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Low posterior hairline, Aortic root aneurys... |
OMIM:618000 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Prominent scalp veins, Cataract, Optic disc hypoplasia, Corneal opacity, Hyper... |
ORPHA:3455 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Abnormality of hair texture |
ORPHA:96169 |
Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Grange Syndrome |
|
Coronary artery stenosis, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Splenomegaly, Hypertriglyceridemia, Hirsutism |
OMIM:608594 |
Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp... |
ORPHA:580 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of the skin, Hypopigmentation of hair, Hypomagnesemia, Retinal pig... |
OMIM:219800 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipide... |
ORPHA:189427 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... |
ORPHA:163746 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Coronary artery atherosclerosis |
ORPHA:439232 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp... |
ORPHA:217085 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Transient ischemic att... |
ORPHA:324 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Abnormal foveal morphology, Sp... |
ORPHA:217093 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Hyperlipidemia |
ORPHA:2089 |
Degcags Syndrome |
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Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Le... |
OMIM:619488 |
Familial Multiple Lipomatosis |
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Chorioretinitis, Hyperlipidemia |
ORPHA:199276 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal pupil morphology, Abnormality of skin pigmentation, Keratoconus, Alopecia, Peripheral ar... |
ORPHA:286 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Hypercholesterolemia, Mottled pigmentati... |
OMIM:248370 |
Neutral Lipid Storage Myopathy |
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Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Patent ductus arteriosus, Stellate iris, Hypopigmentation of the skin, ... |
ORPHA:177907 |
Sim1-Related Prader-Willi-Like Syndrome |
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Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398079 |
Glycogen Storage Disease Ib |
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Splenomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Neutropenia, Lipemia retinalis |
OMIM:232220 |
Williams Syndrome |
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Elevated circulating creatine kinase concentration, Abnormal cerebral vascular morphology, Hypopl... |
ORPHA:904 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Smith-Lemli-Opitz Syndrome |
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Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Patent ductus arte... |
ORPHA:818 |
Magel2-Related Prader-Willi-Like Syndrome |
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Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:398069 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Lipemia retinalis |
OMIM:232200 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
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Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Stroke, Hypopigmentation of the skin |
ORPHA:739 |
Alström Syndrome |
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Cone/cone-rod dystrophy, Optic disc pallor, Cataract, Hypertriglyceridemia, Retinal pigment epith... |
ORPHA:64 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc... |
ORPHA:567983 |
Woodhouse-Sakati Syndrome |
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Sparse hair, Alopecia, Hyperlipidemia, Fine hair |
OMIM:241080 |
Glycogen Storage Disease Ic |
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Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Hyperuricemia |
OMIM:232240 |
Aromatase Deficiency |
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Hyperlipidemia, Generalized hirsutism |
ORPHA:91 |
Woodhouse-Sakati Syndrome |
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Alopecia, Hyperlipidemia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |