Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Tendon xanthomatosis, Elevated circulating sitosterol concentration, Premat... |
OMIM:618666 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia, Xanthomatosis |
OMIM:602247 |
Internal Carotid Artery, Spontaneous Dissection Of |
|
Extracranial internal carotid artery dissection |
OMIM:147820 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholest... |
OMIM:603813 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Precocious atherosclerosis, Hyperlipidemia, Tendon xanthomatosis, Increased HDL cholesterol conce... |
ORPHA:79506 |
Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... |
OMIM:144010 |
7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Tendon xanthomatosis, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Tendon xanthomatosis, Coronary artery ather... |
OMIM:143890 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... |
OMIM:144300 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis |
OMIM:604091 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Xanthelasma, Xanthomatosis, Atherosclerosis, Abnormal ci... |
ORPHA:425 |
Arterial Dissection With Lentiginosis |
|
Arterial dissection, Cystic medial necrosis |
OMIM:600459 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Hypertriglyceridemia 1 |
|
Precocious atherosclerosis, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Ather... |
OMIM:145750 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Tendon xanthomatosis, Premature coronary artery atherosc... |
OMIM:618463 |
Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Premature coronary artery atherosclerosis |
OMIM:608320 |
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 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Type ... |
ORPHA:412 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Foam cells, Hypertriglyceridemia |
OMIM:245900 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Papular Xanthoma |
|
Hyperlipidemia, Skin plaque, Eruptive xanthomas |
ORPHA:158008 |
Complement Component 8 Deficiency, Type I |
|
Decreased circulating complement C8 concentration, Systemic lupus erythematosus |
OMIM:613790 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Premature coronary artery atherosc... |
OMIM:610947 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Premature coronary artery atherosc... |
ORPHA:140905 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Papule, Atherosclerosis |
ORPHA:91135 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ... |
OMIM:607616 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Cholesteryl Ester Storage Disease |
|
Arteriosclerosis, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Malar prominence, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Micrognathia |
ORPHA:436182 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... |
ORPHA:2722 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circulating complement C... |
OMIM:614420 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma,... |
OMIM:277460 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
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 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro... |
OMIM:617294 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Carotid artery stenosis, Tuberous xanthoma, Elevated circulating sit... |
OMIM:210250 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Precocious atherosclerosis, Microvesicular hepatic st... |
ORPHA:275761 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia, Abnormalit... |
OMIM:613752 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Generalize... |
OMIM:615559 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumb... |
ORPHA:1830 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... |
OMIM:605389 |
L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration, Alopecia |
OMIM:615604 |
Edinburgh Malformation Syndrome |
|
U-Shaped upper lip vermilion, Neonatal hyperbilirubinemia |
OMIM:129850 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodo... |
ORPHA:79259 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Hypertriglyceridemia, ... |
OMIM:608600 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Retinopathy, Iris hypopi... |
ORPHA:79476 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Increased LDL cholesterol concentration, Aorti... |
ORPHA:209902 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Tubulointerstitial nephritis, ... |
OMIM:203800 |
Hypertriglyceridemia, Transient Infantile |
|
Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
C1Q Deficiency 1 |
|
Autoimmunity, Decreased circulating complement factor I concentration, Systemic lupus erythematosus |
OMIM:613652 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci... |
OMIM:619802 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Xanthomatosis, Neutropenia, Decreased glomerular filtration ... |
OMIM:232220 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Complement Component C1S Deficiency |
|
Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Masp2 Deficiency |
|
Complement deficiency, Systemic lupus erythematosus |
OMIM:613791 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Lipemia r... |
OMIM:232200 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Angina pectoris, Myocardial infarction, Tuberous xanthoma,... |
OMIM:213700 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Autoimmunity, Increased circulating IgG4 level, Elevated circulating C-... |
ORPHA:449400 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia, Macule, Lumba... |
OMIM:242900 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Immunodeficiency 109 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Hypertriglyceridemia, Bronchiectasis, Recurrent sin... |
OMIM:620282 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema... |
OMIM:300635 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Au... |
OMIM:601859 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:620010 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia |
OMIM:617885 |
Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Erdheim-Chester Disease |
|
Cough, Increased bone mineral density, Abnormal pericardium morphology, Pulmonary fibrosis, Anemi... |
ORPHA:35687 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Atherosclerosis |
ORPHA:79292 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Bilateral tonic-clonic seizure, Aggressive behavior, Stroke-like episode, Vascula... |
ORPHA:199354 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Atherosclerosis |
ORPHA:2724 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Yellow papule, Retinal peau d'orange, Angioid streaks of the fundus, Atherosclerosis |
OMIM:610842 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Sea-Blue Histiocyte Disease |
|
Foam cells, Absent axillary hair |
OMIM:269600 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Synophrys, Flexion contracture, Leukopenia, Chorioretinal hypop... |
OMIM:617303 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Compulsive behaviors, Depression, Seizure, Addictive alcohol use, Gait... |
ORPHA:399 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Flynn-Aird Syndrome |
|
Ataxia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Seizure, Dementia, Type ... |
ORPHA:2047 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoglycemia, Micrognathia, Tooth agenesis, Microdontia, Hypercholeste... |
ORPHA:633 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... |
OMIM:613953 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Aplasia/Hypoplasia of the ... |
ORPHA:2348 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint... |
ORPHA:289390 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eruptive xanthomas, Decreased LDL ... |
OMIM:615947 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia |
OMIM:179700 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
Schnitzler Syndrome |
|
Macule, Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Vasc... |
ORPHA:37748 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
OMIM:613877 |
Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesang... |
OMIM:617575 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Micrognathia, High palate, Short philtrum, Hypercholesterol... |
ORPHA:254531 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Nephrotic Syndrome, Type 11 |
|
Micrognathia, Cleft lip, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia, Smooth... |
OMIM:616730 |
Immunodeficiency 23 |
|
Rheumatoid factor positive, Increased circulating IgG level, Neutropenia, Conductive hearing impa... |
OMIM:615816 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Increased circulating IgE level, In... |
OMIM:610163 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Micrognathia |
ORPHA:446 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Renal intersti... |
ORPHA:449395 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, Trichoepithelioma, Cylindr... |
ORPHA:79493 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Prominent supe... |
OMIM:604367 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... |
OMIM:308240 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... |
OMIM:613101 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Downslanted palpebral fissures, Thin skin, Ptosis |
OMIM:616592 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Diabetes mellitus, Aplasia/Hypoplasia of t... |
ORPHA:79083 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre... |
ORPHA:397596 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
4H Leukodystrophy |
|
Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to... |
ORPHA:289494 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Prominent supe... |
OMIM:151660 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Failure to thrive, Autoimmunity, Absent peripheral lymph nodes in presence of infecti... |
ORPHA:98813 |
Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan... |
ORPHA:91139 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, De... |
OMIM:615147 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... |
ORPHA:494424 |
Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration |
OMIM:275400 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Vasculitis in the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
Glycogen Storage Disease Ic |
|
Spider hemangioma, Inflammation of the large intestine, Xanthomatosis, Hepatoblastoma, Decreased ... |
OMIM:232240 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo... |
OMIM:209950 |
Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... |
OMIM:618534 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Complement Component C1R/C1S Deficiency |
|
Complement deficiency, Autoimmunity |
OMIM:216950 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic stea... |
OMIM:613327 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Mental deterioration, Depression, ... |
OMIM:219080 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Increased circulating ferritin concentration, Hypertriglyceridemia, Conjunctivitis |
OMIM:603552 |
Candidiasis, Familial, 1 |
|
Alopecia |
OMIM:114580 |
Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperl... |
ORPHA:391665 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Precocious atherosclerosis,... |
ORPHA:280365 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Galloway-Mowat Syndrome 6 |
|
Downturned corners of mouth, Wide mouth, High palate, Hypoalbuminemia, Microdontia |
OMIM:618347 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Complement Component 4A Deficiency |
|
Vasculitis, Decreased circulating complement C4 concentration, Reduced hemolytic complement activ... |
OMIM:614380 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Progressive neurologic deterioration, Leukocytosis, Memory impairment, Seizu... |
ORPHA:90065 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Short neck, Atrioventric... |
ORPHA:98863 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Progressive neurologic deterioration, Hyperlordosis, Sensorineural hearing impairmen... |
ORPHA:1192 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ... |
ORPHA:98853 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Dental crowding, Increased circulating free fatty acid level, Micrognathia,... |
ORPHA:2457 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... |
OMIM:616834 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Short neck, Flexion contracture, Leukopenia, Hypoalbuminemia, Conjunctiviti... |
ORPHA:505248 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Papule, Abnormality of the nail, Aplasia/H... |
ORPHA:129 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia |
OMIM:237800 |
Endocardial Fibroelastosis |
|
Seizure, Anterior hypopituitarism, Cognitive impairment, Cryptorchidism |
ORPHA:2022 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells |
OMIM:604809 |
Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Eczema, Minimal change glome... |
OMIM:618348 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin... |
OMIM:619632 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Renal neoplasm, Increased bone mineral density, Telangiectas... |
ORPHA:902 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Long eyelashes, Neonatal hyperbilirubinemia, Retinal degeneration |
ORPHA:3363 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Proteinuria, Hypoglyc... |
ORPHA:369 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
Tangier Disease |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hypocholesterolemia, ... |
ORPHA:31150 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Glycogen Storage Disease Iii |
|
Thin upper lip vermilion, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:232400 |
Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... |
ORPHA:97279 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Erysipelas |
OMIM:214900 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Frontal lobe dementia, Irritability, Deme... |
OMIM:600274 |
Takayasu Arteritis |
|
Myocardial infarction, Anorexia, Subcutaneous nodule, Vasculitis, Skin ulcer, Ascending tubular a... |
ORPHA:3287 |
Vexas Syndrome |
|
Macrocytic anemia, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Micrognathia, Cleft palate, High pala... |
OMIM:616222 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Precocious atherosclerosis, Hyperlipidemia, Eruptive xanthomas, Increased c... |
ORPHA:444490 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Eczema |
OMIM:177000 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Abnormal retinal vascular morphology, Rayn... |
ORPHA:247691 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
Boutonneuse Fever |
|
Macule, Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, T... |
ORPHA:83313 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin, Abnormality of skin pigmentation, Premature graying of hair, Abno... |
ORPHA:1979 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Schwartz-Jampel Syndrome |
|
Myotonia, Apnea, Elevated circulating creatine kinase concentration, Short neck, Wrist flexion co... |
ORPHA:800 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Flexion contracture, Optic atrophy, Vascular granular osmiophilic material deposition, Macular de... |
OMIM:256730 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Bilateral tonic-clonic seizure, Abnormal circulating renin, Intracranial hem... |
ORPHA:369929 |
Pauci-Immune Glomerulonephritis |
|
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ... |
ORPHA:93126 |
Septopreoptic Holoprosencephaly |
|
Short attention span, Impulsivity, Precocious puberty, Coarctation of aorta, Dysphagia, Anterior ... |
ORPHA:280195 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Depress... |
ORPHA:77296 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Myotonia, Elevated circulating creati... |
ORPHA:98855 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... |
OMIM:204200 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Listeriosis |
|
Respiratory distress, Back pain, Liver abscess, Stiff neck, Abnormal cellular immune system morph... |
ORPHA:533 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Foam cells with lamellar inclusion bodies, Recurrent respiratory... |
OMIM:257200 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa |
OMIM:268010 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hepatomegaly, Acholic st... |
ORPHA:30391 |
Legius Syndrome |
|
Short attention span, Hyperactivity, Acute monocytic leukemia, Non-small cell lung carcinoma, Par... |
ORPHA:137605 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Recurrent otitis media, Bronchiolitis, Rod-cone dystrophy, Reti... |
OMIM:615993 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Coccidioidomycosis |
|
Respiratory distress, Urticarial plaque, Abnormality of the spleen, Verrucous papule, Increased c... |
ORPHA:228123 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Depression, Increased circulating ... |
OMIM:615830 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Abnormal autonomic nervous system physiology, Cognitive impairment, Attention d... |
ORPHA:369873 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Epicanthus, Proteinuria, Stage 5 chronic kidney ... |
OMIM:617729 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Subcutaneous nodule, Atrioventricular... |
ORPHA:324 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard... |
ORPHA:679 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Pseudoxanthoma Elasticum |
|
Abnormal cerebral vascular morphology, Subcutaneous nodule, Nephrocalcinosis, Acne, Sudden cardia... |
ORPHA:758 |
Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Decreased serum leptin, Recurrent upper respiratory tract infections, R... |
OMIM:614962 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bradyphrenia, Bundle branch block, Neonatal respiratory distress, Hyperactivity, Short attention ... |
ORPHA:589821 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... |
ORPHA:2890 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hy... |
ORPHA:171 |
Joubert Syndrome 26 |
|
Recurrent upper respiratory tract infections, Panhypopituitarism, Decreased response to growth ho... |
OMIM:616784 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Decreased circulating free fatty... |
ORPHA:276575 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Cardiomyopathy, Type II diabetes mellitus, Hyperglycemia, Retinal degener... |
OMIM:520000 |
Stuve-Wiedemann Syndrome 1 |
|
Myotonia, Apnea, Short neck, Knee flexion contracture, Anteverted nares, Osteoporosis, Respirator... |
OMIM:601559 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Depression, Seizure, Polydipsia, Diabetes insipidus |
ORPHA:178029 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Seizure, Attention deficit hyperactivity disorder, Hypothyroidism |
ORPHA:261229 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... |
ORPHA:3261 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Intracranial hemorrhage, Hypokalemia, Dexamethas... |
ORPHA:403 |
Isolated Growth Hormone Deficiency, Type Ib |
|
Reduced circulating growth hormone concentration, Decreased response to growth hormone stimulatio... |
OMIM:612781 |
Alg12-Cdg |
|
Redundant skin, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification, Hypocholeste... |
ORPHA:79324 |
Alg6-Cdg |
|
Macroglossia, Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Kerion Celsi |
|
Alopecia |
ORPHA:499 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Delirium,... |
ORPHA:247585 |
Gaisböck Syndrome |
|
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Overwe... |
ORPHA:90041 |
Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration, Ptosis |
OMIM:311000 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration, Premature arteriosclerosis |
OMIM:277700 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, N... |
ORPHA:79397 |
Aapoaiv Amyloidosis |
|
Back pain, Abnormal lung morphology, Paraproteinemia, Left bundle branch block, Sinus bradycardia... |
ORPHA:439232 |
Laryngeal Neuroendocrine Tumor |
|
Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Elevated carcinoembryoni... |
ORPHA:100083 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Congenital Generalized Lipodystrophy |
|
Mandibular prognathia, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsuline... |
ORPHA:528 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Abnormal repetitive mannerisms, Synophry... |
OMIM:182290 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Low plasma citrulline, Sepsis, Abnormal blood ion concentration, Central h... |
ORPHA:95427 |
H Syndrome |
|
Microcytic anemia, Micropenis, Psoriasiform dermatitis, Abnormality of the kidney, Recurrent phar... |
ORPHA:168569 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i... |
ORPHA:3453 |
Galactokinase Deficiency |
|
Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... |
ORPHA:79237 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Precocious atherosclerosis, Premature coronary artery atherosclerosis |
OMIM:176670 |
Cockayne Syndrome |
|
Urinary incontinence, Congenital contracture, Retinal arteriolar constriction, Retinal degenerati... |
ORPHA:191 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Micrognathia, Cleft palate, High palate, Short philtrum, Na... |
ORPHA:96184 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails... |
ORPHA:1882 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... |
OMIM:172700 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia |
ORPHA:79085 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Dental crowding, Micrognathia, Insulin resistance, Narro... |
OMIM:615381 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythemato... |
ORPHA:444463 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react... |
OMIM:620321 |
Gastrocutaneous Syndrome |
|
Synophrys, Melanocytic nevus, Upslanted palpebral fissure, Multiple lentigines, Multiple cafe-au-... |
ORPHA:2069 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ... |
ORPHA:443811 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Xanthomatosis, Coronary artery atherosclerosis |
ORPHA:79084 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabet... |
ORPHA:276580 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Abnormal fear-induced behavior, Seizure, Pse... |
ORPHA:208441 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Adrenoco... |
ORPHA:91354 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Ataxia, Elevated circulati... |
ORPHA:300373 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ... |
OMIM:610600 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Aggressive behavior, Inability to walk, Ga... |
OMIM:300148 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... |
ORPHA:158057 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Tremor, Thyrotoxicosis with diffuse goiter, Increas... |
ORPHA:525731 |
East Syndrome |
|
Salt craving, Ataxia, Generalized-onset seizure, Inability to walk, Seizure, Hypokalemia, Hyperal... |
ORPHA:199343 |
Gapo Syndrome |
|
Skin tags, Sparse eyelashes, Palpebral edema, Abnormal cerebral vascular morphology, Hearing impa... |
ORPHA:2067 |
Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia |
ORPHA:346 |
Farber Disease |
|
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona... |
ORPHA:333 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulating C-r... |
ORPHA:158061 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Choroidal neovascularization, Yellow papule, Retinal hemorrhage, Ang... |
OMIM:264800 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ectropion |
OMIM:242510 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Episodic hyperhidrosis, Hypoglycemic seizures, Decreased circulating free fatty acid level, Agita... |
ORPHA:276556 |
Gm1-Gangliosidosis, Type Iii |
|
Foam cells |
OMIM:230650 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Yellow papule, Premature occlusive vascular stenosis, Cer... |
OMIM:177850 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab... |
ORPHA:99827 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, Onychogryposis of finger... |
ORPHA:2251 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Autoimmunity, Con... |
ORPHA:36913 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolem... |
OMIM:212065 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U... |
OMIM:616108 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Lymphopenia, Hyperactivity, Myotonia, Kyphoscoliosis, Aggressive behavior, Prominent nose, Synoph... |
ORPHA:391307 |
Schwartz-Jampel Syndrome, Type 1 |
|
Elevated circulating creatine kinase concentration, Cervical kyphosis, Short neck, Percussion myo... |
OMIM:255800 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Anterior hypopituitarism |
ORPHA:631 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Elevated circulating C-reactive protein concentration, Leukopenia, Lupus antic... |
OMIM:615688 |
Mpi-Cdg |
|
Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556037 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Generalized dystonia, Adrenal insufficiency, Dysphagia |
OMIM:619025 |
Holoprosencephaly |
|
Hypoplasia of penis, Short neck, Abnormality of the spleen, Synophrys, Depressed nasal ridge, Abn... |
ORPHA:2162 |
Methanol Poisoning |
|
Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Intracranial hemorrhage, Abnormal... |
ORPHA:31825 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Abnormal lung lobation, Renal cyst, Nephrocalcinosis, Atrial septal defect, Depressed... |
ORPHA:369837 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola... |
ORPHA:747 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Reduced ... |
ORPHA:79474 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Recurrent bronchopulmonary infections |
ORPHA:85334 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Elevated circulating creatine kinase concentration |
OMIM:617613 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Type II diabetes mel... |
OMIM:616860 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Renal insufficiency, Ventricular septal defect, Partial atrioventricular... |
OMIM:615996 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Shallow anterior chamber, Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Stroke, Thin skin, Precocious atherosclerosis |
ORPHA:230839 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Anorexia, Abnormality of neutrophils, Pallor, Hepatomegaly, Vertigo, Vasculiti... |
ORPHA:33226 |
Smith-Magenis Syndrome |
|
Synophrys, Abnormal form of the vertebral bodies, Conductive hearing impairment, Chronic otitis m... |
ORPHA:819 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, CNS foam cells, Bone-marrow foam cells, Splenomegaly, Dysphagia, Gait ataxia, Seizure, De... |
OMIM:257220 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline, Pancreatitis |
OMIM:603471 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:619040 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Synophrys, Conductive hearing impairment, Atrial septal defect, Hepatic steatosis, Hy... |
ORPHA:254346 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Sha... |
ORPHA:740 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Precocious atherosclerosis, Abnormal eyelid morphology, Abnormal lung morphology, Axo... |
ORPHA:909 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Flexion contracture, Rib osteolysis, Atherosclerosis, Sparse eyebrow, Ost... |
OMIM:614008 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Sensorineur... |
OMIM:266500 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... |
ORPHA:556030 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Optic atrophy, Hypertrophic cardi... |
OMIM:300438 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Broad-based gait, Hyperactivity, Ataxia, Seizure, Inappropriate laughter, P... |
ORPHA:411515 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Elevated circulati... |
ORPHA:435660 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Autoimmunity |
OMIM:617006 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast... |
ORPHA:264580 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Recurrent pneumonia, Optic atrophy, Rod-cone dystrophy, Retinal degenera... |
OMIM:602271 |
Tick-Borne Encephalitis |
|
Back pain, Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia, Increased... |
ORPHA:297 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia |
OMIM:618805 |
Triple A Syndrome |
|
Ataxia, Optic atrophy, Seizure, Adrenal insufficiency, Anterior hypopituitarism |
ORPHA:869 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Giant Cell Arteritis |
|
Anorexia, Cough, Conductive hearing impairment, Abdominal aortic aneurysm, Sudden cardiac death, ... |
ORPHA:397 |
Panhypopituitarism, X-Linked |
|
Panhypopituitarism |
OMIM:312000 |
Sneddon Syndrome |
|
Antiphospholipid antibody positivity, Vertigo, Arterial stenosis, Intracranial hemorrhage, Hypert... |
ORPHA:820 |
Prolidase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Elevated circulating aspartate aminotransferase concentrati... |
OMIM:170100 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Cognitive impairment, Anterior... |
ORPHA:2863 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Patent ductus arteriosus, Aplasia... |
ORPHA:290 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car... |
ORPHA:79159 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis |
OMIM:616833 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... |
ORPHA:684 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Chronic lymphocytic meningitis, Orthostatic h... |
ORPHA:95512 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair |
ORPHA:2985 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninem... |
OMIM:204000 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ... |
ORPHA:565612 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ... |
ORPHA:3077 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Rod-cone dystrophy, Dilated cardiomyopathy, Retinal degeneration |
OMIM:615981 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Maculopapular exanthema, Skin rash, Retinal pigment epith... |
ORPHA:448237 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Intracranial h... |
ORPHA:363618 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Hyperglycemia, Rod-cone dystrophy... |
OMIM:615986 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Hypoglycemia, Micrognathia, Insulin resistance, Neonatal hyperbilirubi... |
ORPHA:73272 |
Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn... |
OMIM:270200 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Depressed nasal bridge, Decrease... |
OMIM:617241 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity |
OMIM:252650 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Lymphopenia, Ventricular septal defect, Recurre... |
OMIM:620210 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, Lack ... |
ORPHA:277 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level |
OMIM:247800 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Renal insufficiency, Epicanthus, Proteinuria, Sm... |
OMIM:251300 |
Acatalasemia |
|
Severe periodontitis, Reduced catalase level, Microcytic anemia, Arteriosclerosis, Type II diabet... |
ORPHA:926 |
Morm Syndrome |
|
Retinal atrophy, Retinal dystrophy, Cataract |
ORPHA:75858 |
Lathosterolosis |
|
Bilobate gallbladder, Conductive hearing impairment, Anteverted nares, Increased mean platelet vo... |
OMIM:607330 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Hypoglycemic seizures, Neon... |
ORPHA:293964 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte... |
OMIM:249660 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Bilateral tonic-clonic seizure, Decreased response to growth hormone s... |
ORPHA:457240 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Focal-onset seizu... |
ORPHA:251937 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... |
ORPHA:300385 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Polydipsia, Neoplasm of the anterior pituitary, Meningitis, Seizure, Hy... |
ORPHA:91351 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
ORPHA:766 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... |
ORPHA:900 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia |
OMIM:617093 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hypoalbuminemia, Steatorrhea |
OMIM:602579 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Antinucle... |
OMIM:618048 |
Seckel Syndrome 10 |
|
Retinal detachment, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Hyper... |
OMIM:617253 |
Leishmaniasis |
|
Hypoalbuminemia, Abnormal oral mucosa morphology, Abnormal oral cavity morphology |
ORPHA:507 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,... |
ORPHA:1390 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Cherry red spot of the macula, Hepatomegaly,... |
ORPHA:77293 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Aggressive behavior, Seizur... |
OMIM:615286 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Recurrent respiratory infections, Corneal opacity |
ORPHA:2432 |
Catastrophic Antiphospholipid Syndrome |
|
Myocardial infarction, Pulmonary embolism, Lupus anticoagulant, Abnormal jugular vein morphology,... |
ORPHA:464343 |
Cog4-Cdg |
|
Hypercholesterolemia, Recurrent upper respiratory tract infections |
ORPHA:263501 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Macroorchidism, Hypercholesterolemia, Neonatal hyper... |
ORPHA:90674 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Ptosis |
ORPHA:1067 |
Bachmann-Bupp Syndrome |
|
High palate, Thin upper lip vermilion, Hypoglycemia, Hyperbilirubinemia |
OMIM:619075 |
Chilblain Lupus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity... |
ORPHA:90280 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... |
OMIM:618944 |
Microtriplication 11Q24.1 |
|
Attached earlobe, Wide nose, Posteriorly rotated ears, Short neck, Hyperlipidemia, Synophrys, Lim... |
ORPHA:289522 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, CNS foam cells, Bone-marrow foam cells, Splenomegaly, Dysphagia, Seizure, Dementia, Sea-b... |
OMIM:607625 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Abnormal lung morphology, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis me... |
ORPHA:47 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen... |
ORPHA:353 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal ... |
ORPHA:365 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Telangiectasia of the skin, Abnormal dent... |
ORPHA:3019 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De... |
ORPHA:525 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Myotonia, Impaired myocardial contractility, Respiratory paralysis, Postpra... |
ORPHA:681 |
Livedoid Vasculopathy |
|
Venous insufficiency, Abnormality of complement system, Hyperhomocystinemia, Lupus anticoagulant,... |
ORPHA:542643 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricula... |
OMIM:160900 |
Alagille Syndrome 1 |
|
Long nose, Multiple small medullary renal cysts, Hemivertebrae, Atrial septal defect, Vesicourete... |
OMIM:118450 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test |
ORPHA:1261 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... |
OMIM:613490 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Cataract, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Increased cir... |
OMIM:614307 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Myotonia, Elevated circulating creatine kinase concentration, Congestive heart fail... |
ORPHA:682 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... |
ORPHA:1414 |
Eosinophilopenia |
|
Autoimmunity |
OMIM:131430 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Ring Chromosome 14 Syndrome |
|
Epicanthus, Almond-shaped palpebral fissure, Pigmentary retinopathy, Blepharophimosis, Downslante... |
OMIM:616606 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Epicanthus, Failure to thrive, Anteverted nares, Cardiomegaly, Conjugat... |
OMIM:269920 |
Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Arthrogryp... |
ORPHA:1466 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Hypermelanotic macule, S... |
OMIM:617730 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Dementia, Adrenal insuffici... |
ORPHA:43 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal eyelid morphology, Short neck, Abnormal lung lobation, Abnorma... |
ORPHA:567 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Heart block, Splenomegaly, Sensorineura... |
ORPHA:773 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia, Retinal degeneration |
OMIM:617173 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
Lassa Fever |
|
Shock, Back pain, Dyspnea, Jaundice, Oliguria, Dysphagia, Increased circulating IgM level, Conjun... |
ORPHA:99824 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ... |
ORPHA:199299 |
Immunodeficiency 32B |
|
Sinusitis, Hypoalbuminemia |
OMIM:226990 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Myotonic Dystrophy 2 |
|
Handgrip myotonia, Tachycardia, Myotonia, Elevated circulating creatine kinase concentration, Pre... |
OMIM:602668 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Dental crowding, Micrognathia, Hyperlipidemia, Insulin-re... |
OMIM:248370 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Hypotaurinemia, Macular atrophy, Retinal pigment ep... |
OMIM:145350 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de... |
OMIM:619534 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira... |
ORPHA:656 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Insulin-resist... |
ORPHA:435651 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Failure to thrive, Pneumonia, Anteverted nares, Depressed nasal bridge, Br... |
OMIM:242860 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Conjunctivitis, Nail dyst... |
OMIM:612843 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Choreoathetosis, Seizure, Aplasia of the left hemidiaphragm, Adrenal insufficiency... |
OMIM:618238 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalbuminemia, Hype... |
ORPHA:1667 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged t... |
OMIM:616005 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anorexia, Subc... |
ORPHA:48435 |
Q Fever |
|
Respiratory distress, Rheumatoid factor positive, Anorexia, Abnormal left ventricular function, A... |
ORPHA:781 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Diabetes mellitus, Optic atrophy, Cardiomyopathy, Stroke, Arrhythmia, Re... |
OMIM:249270 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent oral herpes, Frequent Giardia lamblia infestation, Dec... |
OMIM:615577 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne... |
OMIM:614650 |
Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia |
OMIM:618892 |
Cushing Disease |
|
Increased urinary cortisol level, Lymphopenia, Adrenal hyperplasia, Diabetes mellitus, Paradoxica... |
ORPHA:96253 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Skin rash, Peripheral arterial stenosis, Retinal arteriolar constriction, Progressiv... |
OMIM:124950 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Increased... |
OMIM:615954 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebrow, N... |
OMIM:615704 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Progressive neurologic deterioration, Abnormal tricuspid valve ... |
ORPHA:580 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia, Hypogl... |
OMIM:251880 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Steatorrhea |
ORPHA:2070 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Thin upper lip vermilion, Hypoglycemia, Long philtrum |
OMIM:614741 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Myoca... |
ORPHA:56 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor... |
ORPHA:186 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Whipple Disease |
|
Hyponatremia, Ataxia, Anorexia, Splenomegaly, Depression, Seizure, Myoclonus, Polydipsia, Hypothy... |
ORPHA:3452 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Tach... |
OMIM:615934 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Reduced isohemagglutinin level, Dec... |
OMIM:618459 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Facial pal... |
OMIM:606407 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr... |
OMIM:619573 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... |
ORPHA:209004 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Long philtrum |
OMIM:608104 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Hyperinsulinemia, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia, Confusion |
OMIM:148840 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Type I... |
ORPHA:254516 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Myotonia of the upper limb, Kyphoscoliosis, Short neck, Limitation of joint mo... |
ORPHA:3101 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Thyroid dysgenesis, Thyroid hemiagenesis, Recurrent respiratory infections, H... |
ORPHA:209905 |
Kearns-Sayre Syndrome |
|
Anterior hypopituitarism, Ataxia |
ORPHA:480 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog... |
OMIM:619055 |
Snakebite Envenomation |
|
Hyponatremia, Neuromuscular dysphagia, Intracranial hemorrhage, Pseudobulbar paralysis, Stroke, H... |
ORPHA:449285 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
Angelman Syndrome |
|
Tremor, Hyperactivity, Ataxia, Tongue thrusting, Seizure, Myoclonus, Atypical absence seizure, De... |
ORPHA:72 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypoglycemia |
OMIM:615026 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Congenital ptosis, Ischemic stroke, Coronary artery atherosclerosis, Moyamoy... |
ORPHA:280679 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Hirsutism |
OMIM:604931 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Hypothyroidism, Hypophosphatemia, Hypokalemia, Gait disturbance, ... |
ORPHA:213 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Intracranial hemorrhage, Confusion, Depression, Ischemic stroke, Brain atrophy, Cognitive impairm... |
ORPHA:136 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Autoimmunity, Pne... |
ORPHA:229717 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media |
OMIM:608971 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia, Elevated circulating creatine kinase concentration, Flexion contracture, Respiratory in... |
OMIM:310440 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Subcutaneous nodule |
ORPHA:337 |
Schaaf-Yang Syndrome |
|
Impulsivity, Inability to walk, Cryptorchidism, Flexion contracture, Seizure, Hypogonadism, Skin-... |
OMIM:615547 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Bone-marrow foam cells, Progressive neurologic deterioration, Tremor, ... |
ORPHA:646 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Lipodystrophy, Decreased response to growth hormone stimulation test, Hypothyroidism, Recurrent i... |
OMIM:618922 |
Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia |
ORPHA:35 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Bardet-Biedl Syndrome 4 |
|
Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Aceruloplasminemia |
|
Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, Blepharos... |
OMIM:604290 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Double outlet right ventricle, Cough, Recurrent oti... |
OMIM:618254 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Distal Duplication 14Q |
|
Abnormality of the upper urinary tract, Patent ductus arteriosus, Abnormal lung lobation, Abnorma... |
ORPHA:1705 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Oculocerebrorenal Syndrome Of Lowe |
|
Chorioretinal dysplasia, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Protruding ear, Ami... |
ORPHA:534 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Anti-Glomerular Basement Membrane Disease |
|
Retinal detachment, Renal insufficiency, Glomerulopathy, Proteinuria, Autoimmunity, Vasculitis, R... |
ORPHA:375 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydips... |
ORPHA:231580 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Hyposmia, Osteoporosis, Hearing impairment |
OMIM:615271 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Thoracic scoliosis, Myotonia, Camptodactyly of finger, Elevated circulating cr... |
ORPHA:324442 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Iris coloboma, Ptosis |
ORPHA:1259 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration |
OMIM:607016 |
Abetalipoproteinemia |
|
Retinopathy, Abetalipoproteinemia, Retinal degeneration |
OMIM:200100 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Epistaxis, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Proteus Syndrome |
|
Thin bony cortex, Epidermal nevus, Depressed nasal bridge, Kyphoscoliosis, Splenomegaly, Facial h... |
OMIM:176920 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Steinert Myotonic Dystrophy |
|
Handgrip myotonia, Prolonged QRS complex, Oral-pharyngeal dysphagia, Supraventricular tachycardia... |
ORPHA:273 |
Aspergillosis |
|
Sinusitis, Vitritis, Intracranial hemorrhage, Neutropenia, Cough, Infectious encephalitis, Abnorm... |
ORPHA:1163 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Blepharophimosis, Long e... |
ORPHA:3051 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of... |
ORPHA:79086 |
Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A... |
ORPHA:251393 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Subcutaneous nodule, Tubulointerstitial nephritis, Co... |
ORPHA:183 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia, Hyperuricemia, Anemia |
ORPHA:371 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abnormality of the nose, Splenome... |
ORPHA:575 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Ataxia, Decreased response to growth hormone stimulation test, Depression, Self-in... |
OMIM:601853 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... |
ORPHA:330015 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa... |
ORPHA:2137 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Stroke, Abnormality of circulating cortisol level, Polydipsia, Decreased circulating... |
ORPHA:320 |
Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Gener... |
ORPHA:317 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Red eye, C... |
ORPHA:98964 |
Ck Syndrome |
|
Epicanthus, Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Aggressive behavior,... |
OMIM:300831 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia, Hyposmia, Hearing impairment |
OMIM:615266 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Arteria lusoria, Protruding ear, Recurrent aspiration pneumonia, Neonatal respiratory... |
ORPHA:221139 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Osteopenia, Cyanosis, Renal agenesis, Partial anosmia, Anomalous origin of ... |
ORPHA:2326 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, S... |
ORPHA:228402 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Extramedullary hematopoiesis, Decreased mean corpuscular h... |
ORPHA:231226 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Hyposmia, Elevated circulating pristanic acid concentr... |
OMIM:613724 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Stroke, Abnormality of circulating enzyme level, Atherosclerosis |
ORPHA:93598 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia, Hypoglycemia |
OMIM:618329 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Optic atrophy, Seizure, Dementia, ... |
ORPHA:3463 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Redundant skin, Prominent veins on trunk, ... |
ORPHA:536532 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Optic nerve hypoplasia, ... |
ORPHA:3157 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia |
OMIM:612653 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Seizure, Irritability, Polydipsia, Hypernatremia, Diabetes insipidus |
OMIM:304800 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217093 |
Sialidosis Type 2 |
|
Inguinal hernia, Corneal opacity, Flexion contracture, Umbilical hernia, Abnormal macular morphology |
ORPHA:87876 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Dermal atrophy, S... |
ORPHA:69735 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Rhyns Syndrome |
|
Hypopituitarism |
ORPHA:140976 |
Japanese Encephalitis |
|
Respiratory distress, Decreased motor nerve conduction velocity, Stiff neck, Anorexia, Respirator... |
ORPHA:79139 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Hypertension |
ORPHA:3156 |
Myotonia Permanens |
|
Epicanthus, Myotonia, Hyperlordosis, Dyspnea, Asthma, Limitation of joint mobility, Dysphagia |
ORPHA:99735 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Cerebellar atrophy, Myotonia, Kyphoscoliosis, Vertigo, Scoliosis |
ORPHA:37612 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level, Autoimmune hemolytic anemia, Autoimmunity |
OMIM:618495 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Seizure, Irritability, Polydipsia, Hypernatremia |
OMIM:125800 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Short attention span, Hyperactivity, Decreased circulating cortisol level, Ataxia, Confusion, Abn... |
ORPHA:139396 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia, Gingival bleeding |
ORPHA:98870 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia |
OMIM:620195 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
OMIM:301056 |
Sneddon Syndrome |
|
Antiphospholipid antibody positivity, Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, H... |
OMIM:182410 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, White eyelashes, White eyebrow, Abnormality of retinal ... |
ORPHA:897 |
Tularemia |
|
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Conjunctivitis, Otitis media, C... |
ORPHA:3392 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:609757 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217085 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia |
OMIM:618406 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Ataxia, Seizure, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating reni... |
OMIM:612780 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Postnatal growth retard... |
ORPHA:96180 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration |
OMIM:222765 |
Ogden Syndrome |
|
Redundant neck skin, Apnea, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... |
OMIM:300855 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatic steatosis, Profound hearing impairment, Accessory splee... |
OMIM:619418 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of... |
ORPHA:1457 |
Peroxisome Biogenesis Disorder 3B |
|
Retinal dystrophy, Elevated circulating phytanic acid concentration, Steatorrhea, Rod-cone dystro... |
OMIM:266510 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Back pain, Skin rash, Retinitis, Anorexia, Hematemesis, Thrombocyt... |
ORPHA:319251 |
Classic Mycosis Fungoides |
|
Alopecia, Abnormal eyelid morphology, Hypopigmented skin patches, Skin ulcer, Skin plaque, Abnorm... |
ORPHA:2584 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ... |
ORPHA:348 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Seizure, Polyphagia, Generalized non-motor (absence) seizure |
OMIM:613886 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Nephronophthisis 15 |
|
Retinal degeneration |
OMIM:614845 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Redundant skin, Myocardial infarction, Pulmonary artery stenosis, Dilated c... |
ORPHA:3342 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc, Alopecia |
OMIM:608118 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Cheilitis, Hypoalbuminemia, ... |
ORPHA:247353 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hyperactivity, Decreased response to growth hormone... |
ORPHA:363528 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Abnormal repetitive manneris... |
OMIM:610883 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Pericardial effusion, Ly... |
ORPHA:36412 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Diabetes mellitus, Decreased response to growth hormone stimula... |
ORPHA:739 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased ci... |
ORPHA:33355 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Craniosynos... |
ORPHA:2314 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Ptosis |
ORPHA:2743 |
Acth Deficiency, Isolated |
|
Seizure, Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone de... |
OMIM:201400 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemi... |
OMIM:619386 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Kn... |
OMIM:608836 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Vasculitis, Sepsis, Abnormal circulatin... |
ORPHA:70578 |
Bardet-Biedl Syndrome 21 |
|
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ... |
ORPHA:329918 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Chronic lymphocytic meningitis, Orthostatic h... |
ORPHA:91355 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Squalene Synthase Deficiency |
|
Epicanthus, Bicuspid aortic valve, Hypospadias, Optic nerve hypoplasia, Posteriorly rotated ears,... |
OMIM:618156 |
Macular Degeneration, Age-Related, 3 |
|
Drusen, Macular degeneration, Choroidal neovascularization |
OMIM:608895 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Premature pubarche, Impulsivity, Precocious puberty, Cryptorchi... |
ORPHA:398069 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... |
OMIM:301082 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent... |
ORPHA:90791 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Abnormal dental enamel morphology, Hypercalcemia, Progressive psychomotor deteriorati... |
ORPHA:251004 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Myotonia, Flexion contracture, Optic atrophy, Opto-chiasmatic atrophy, Cerebr... |
OMIM:615491 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc... |
ORPHA:178320 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
Myotonia, Potassium-Aggravated |
|
Handgrip myotonia, Myotonia, Elevated circulating creatine kinase concentration, Stridor, Percuss... |
OMIM:608390 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Telecanthus |
OMIM:203550 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Proteinuria, Stage 5 chronic kidney disease, Cer... |
OMIM:619609 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Distal Xq28 Microduplication Syndrome |
|
Dental crowding, Short lingual frenulum, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... |
ORPHA:293939 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Anorexia, Cough, Hepat... |
ORPHA:732 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hepatomegaly, ... |
OMIM:619487 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Arthritis, Panniculitis, Conjunctivitis |
OMIM:617591 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Cherry red spot of the macula, Laryngeal ... |
ORPHA:845 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Impaired T cell function, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Sclerosing cholangitis, Cholecystitis, Hypercholesterolemia, Pancreatitis |
ORPHA:69663 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Failure to thrive, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Extramedullary hematopoiesis, Decreased mean corpuscular h... |
ORPHA:231214 |
Marchiafava-Bignami Disease |
|
Ataxia, Confusion, Facial palsy, Aggressive behavior, Gait ataxia, Depression, Seizure, Dementia,... |
ORPHA:221074 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia |
OMIM:617119 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Cerebellar atrophy, Almond-shaped palpebral fissure, Stage 5 chronic... |
OMIM:619603 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro... |
ORPHA:14 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... |
ORPHA:157 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Dilated cardiomyopathy |
ORPHA:2515 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Generalized non-motor (absence) seizure, Focal impaired awareness seizure, P... |
OMIM:616521 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly... |
ORPHA:100024 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ptosis, Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin v... |
ORPHA:257 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperka... |
ORPHA:90790 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Myotonia, Decreased urin... |
ORPHA:79102 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Renal cyst, Elevated gamma-glutamyltransferase level, Peritoneal ... |
ORPHA:400 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Facial palsy, Abnormality of the nose,... |
ORPHA:3152 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... |
ORPHA:90291 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
3P25.3 Microdeletion Syndrome |
|
Epicanthus, Sacral dimple, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, B... |
ORPHA:435638 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Vira... |
ORPHA:91138 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Multiple joint contractures, Abnormality of connective tissue, Elevated c... |
ORPHA:370968 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media |
OMIM:312863 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Zebra Body Myopathy |
|
Handgrip myotonia, Facial palsy, Elevated circulating creatine kinase concentration |
ORPHA:97240 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Upslanted palpebral fissure, Epicanthus, Alopecia, Brittle hair |
ORPHA:50812 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy |
OMIM:616171 |
Variant Abeta2M Amyloidosis |
|
Amyloidosis of peripheral nerves, Abnormal vascular morphology, Hepatic amyloidosis, Reduced left... |
ORPHA:314652 |
Idiopathic Pulmonary Hemosiderosis |
|
Rheumatoid factor positive, Crackles, Cardiomegaly, Nodular pattern on pulmonary HRCT, Iron defic... |
ORPHA:99931 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia, Elevated circulating creatine kinase concentration, Joint stiffness |
ORPHA:209335 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to... |
OMIM:617675 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Abnormal lung lobation, Renal cyst, Hypoalbuminemia, Hypocholesterolemi... |
OMIM:270400 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia |
OMIM:182900 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Broad-based gait, Ataxia, Decreased response to growth hormone ... |
OMIM:610978 |
Cockayne Syndrome Type 3 |
|
Progressive neurologic deterioration, Flexion contracture, Adult onset sensorineural hearing impa... |
ORPHA:90324 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Subcutaneous nodule, Optic atrophy, Melanocytic nevus, Hyper... |
ORPHA:2801 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Prominent nose, Atrial septal defect, Patent ductus arteri... |
ORPHA:2637 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Cherry red spo... |
ORPHA:355 |
Meningioma |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... |
ORPHA:2495 |
Arteriosclerosis, Severe Juvenile |
|
Arteriosclerosis, Central retinal vessel vascular tortuosity, Calcification of the aorta |
OMIM:208060 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Hypo... |
OMIM:235510 |
Keratoendotheliitis Fugax Hereditaria |
|
Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Prominence of the premaxilla, Hyperbili... |
OMIM:614886 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Recurrent urinary tract i... |
OMIM:609033 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding, Elevated circulating creat... |
OMIM:606072 |
Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia |
OMIM:616649 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Lid lag on downgaze, Percussion myotonia, Myotonia with warm-up phen... |
OMIM:160800 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Polydipsia, Elevated circulating creatinine concentration |
OMIM:619468 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabe... |
OMIM:262190 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion c... |
ORPHA:37042 |
Charge Syndrome |
|
Hemivertebrae, Eyelid coloboma, Hypoplasia of the semicircular canal, Abnormality of bone mineral... |
ORPHA:138 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Steatorrhea, Hyperbilirubinemia, Abnormal serum bile acid concentr... |
ORPHA:79303 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
Peroxisome Biogenesis Disorder 9B |
|
Total anosmia, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration... |
OMIM:614879 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Papule, Abnormal toenail morphology |
ORPHA:494 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Rett Syndrome |
|
Increased serum pyruvate, Dystonia, Inability to walk, Hyperammonemia, Seizure, Gait disturbance,... |
ORPHA:778 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Lid lag on downgaze, Percussion myotonia, Myotonia with warm-up phenomenon, Dysphagia, ... |
OMIM:255700 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Geographic atrophy, Retinal degen... |
OMIM:619260 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Carious teeth, Narrow mouth, Decreased serum zinc, Hypoalbuminemia, Decreas... |
ORPHA:89842 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Elevated circulating creatine kinase concentration, Bilateral ptosis, Anti-acetylcholine receptor... |
ORPHA:254361 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Juvenile Dermatomyositis |
|
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:93672 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E... |
ORPHA:2788 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Mgat2-Cdg |
|
Respiratory distress, Osteopenia, Reduced level of N-acetylglucosaminyltransferase II, Decreased ... |
ORPHA:79329 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ectropion, Sensorineural heari... |
ORPHA:98907 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... |
ORPHA:2688 |
Episodic Ataxia, Type 2 |
|
Abnormal vestibular function, Myotonia, Vertigo, Tinnitus, Cerebellar vermis atrophy |
OMIM:108500 |
Microscopic Polyangiitis |
|
Sinusitis, Subcutaneous nodule, Uveitis, Glomerulopathy, Vasculitis, Oliguria, Skin ulcer, Episcl... |
ORPHA:727 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia |
ORPHA:177910 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
Developmental And Epileptic Encephalopathy 28 |
|
Epicanthus, Optic atrophy, Retinal degeneration |
OMIM:616211 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Nail dystrophy, Nail dysplasia, Sparse hair, Ectropion |
OMIM:242300 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Optic nerve hypoplasia, Chronic decreased circulating IgG1, Gait ataxia, Recurr... |
OMIM:300953 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Medial calcification of large arteries, Functional abnormality of the bladder, T lymp... |
ORPHA:391487 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal... |
ORPHA:85443 |
Hemifacial Atrophy, Progressive |
|
Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis |
OMIM:141300 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hyperbilirubinemia |
OMIM:214950 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... |
ORPHA:217390 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Hyperhidrosis, Falls, Difficulty walking, Emotio... |
ORPHA:3198 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Crackles, Elevated circulating C-reactive protein concentration, Dyspnea, Nonproduc... |
ORPHA:2902 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Patent ductus ... |
OMIM:614857 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Orbital cyst, Focal dermal aplasia/hypoplasia, Eyelid coloboma |
OMIM:164180 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... |
OMIM:610475 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Premature pubarche, Hypogonadotropic hypogonadism, Precocious p... |
ORPHA:398079 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Pulmonary artery stenosis, Upslanted palpebral fissure, Coarse hair, Nail... |
ORPHA:75389 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Caudate atrophy, Sensorineural... |
ORPHA:52368 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Abnormal circulating enzyme concentration or activity, Cyanosis, Hypoglycemia, Diff... |
ORPHA:391428 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Thrombocytopenia, Abnormal respiratory system physiology, Hepatospleno... |
ORPHA:101028 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious pubert... |
ORPHA:769 |
Chromosome 22Q13 Duplication Syndrome |
|
Short attention span, Bilateral tonic-clonic seizure, Impulsivity, Status epilepticus, Attention ... |
OMIM:615538 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... |
OMIM:607594 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... |
ORPHA:67042 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... |
ORPHA:99829 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90037 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia |
OMIM:266150 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Se... |
ORPHA:2790 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Noonan Syndrome 12 |
|
Lymphopenia, Tetralogy of Fallot, Decreased response to growth hormone stimulation test, Thromboc... |
OMIM:618624 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Epicanthus, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Kyphosi... |
ORPHA:2479 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Apnea, Increased level of hippuric acid in urine, Hypoglycemia, Eczem... |
OMIM:606054 |
Hypomelanosis Of Ito |
|
Epicanthus, Macular hypopigmented whorls, streaks, and patches, Alopecia |
OMIM:300337 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia |
OMIM:235700 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Sepsis, Pigmentary retinopathy, Pulmonary arterial hypertension, Hyperglycinemia, Hyperalaninemia |
OMIM:619059 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiomegaly, Promine... |
OMIM:300280 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Posterior blepharitis, Blepharitis, Alopecia totalis |
OMIM:300918 |
Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy, Elevated circulating creatine kinase concentration, Ptosis |
OMIM:619473 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Skin erosion, Patchy alopecia, Papule, Skin plaque |
OMIM:247100 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Confusion, Cachexia, Optic atrophy, Arteriosclerosis, Dermal atrophy, Dry skin, Retino... |
ORPHA:220295 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia |
OMIM:261750 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Hypogonadotropic hypogonadism, Limb joint contracture, Centr... |
OMIM:612079 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Atrial septal defect, Decreased circulating Ig... |
OMIM:620005 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Corneal opa... |
ORPHA:3163 |
Neuhauser Syndrome |
|
Iridodonesis, Epicanthus, Hypoplasia of the iris, Hypercholesterolemia, Downslanted palpebral fis... |
OMIM:249310 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Cernunnos-Xlf Deficiency |
|
Autoimmunity, Decreased circulating antibody level |
ORPHA:169079 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Seizure, Inappropriate behavior, Co... |
ORPHA:309246 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Retinal detachment, Epicanthus, Failure to thrive, Hypospadias, Abnormal pi... |
OMIM:607143 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Transient hyperlipidemia |
ORPHA:156 |
Melorheostosis With Osteopoikilosis |
|
Subcutaneous nodule, Hypertension, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Atrial septal defect, Neonatal respiratory distress, Anteverted nares, Depre... |
OMIM:244450 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Distal arthrogryposis, Astigmatis... |
OMIM:108145 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Upslanted palpebral fissure, Alopecia, Elevated circulating phytanic acid concentration |
OMIM:215100 |
Cockayne Syndrome A |
|
Prominent nose, Ivory epiphyses of the phalanges of the hand, Micropenis, Hepatomegaly, Retinal a... |
OMIM:216400 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Rod-cone dystrophy, Retinal atrophy, Vascular granular osmiophilic material deposition |
OMIM:610127 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Increased circulating fr... |
ORPHA:71212 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:604360 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Increased circulating antibody level, Autoimmunity, Autoimmune th... |
OMIM:614470 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Subarachnoid hemorrhage, E... |
OMIM:243700 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec... |
ORPHA:2930 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ... |
ORPHA:899 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme... |
ORPHA:206436 |
Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:618120 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Hypercalcemia, Neoplasm of the thymus... |
ORPHA:97289 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Cognitive impairment |
OMIM:615994 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia |
ORPHA:79302 |
Mulibrey Nanism |
|
Corneal dystrophy, Congestive heart failure, Pigmentary retinopathy, Astigmatism, Recurrent lower... |
OMIM:253250 |
Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Recurrent respiratory infections, Cataract, Decreased circul... |
ORPHA:1493 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... |
ORPHA:36238 |
Diffuse Alveolar Hemorrhage |
|
Rheumatoid factor positive, Decreased circulating complement C4 concentration, Cough, Irregular s... |
ORPHA:90060 |
Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia, Myotonia |
OMIM:170400 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Xfe Progeroid Syndrome |
|
Premature loss of teeth, Hypoalbuminemia, Enamel hypoplasia |
OMIM:610965 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Mucolipidosis Type Iii |
|
Inguinal hernia, Corneal opacity |
ORPHA:577 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cystic angiomatosis of bone, Hypertriglyceridemia, H... |
OMIM:269700 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Brody Disease |
|
Myotonia, Percussion myotonia, Flexion contracture |
OMIM:601003 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, C... |
ORPHA:363705 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical... |
ORPHA:1802 |
Congenital Toxoplasmosis |
|
Macule, Hepatomegaly, Abnormality of retinal pigmentation, Elevated hepatic transaminase, Failure... |
ORPHA:858 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Elevated circulating C-reactive protein concentration... |
ORPHA:319213 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse hair, Tetralogy o... |
ORPHA:2316 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal r... |
ORPHA:244 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Adrenocorticotropic h... |
OMIM:609981 |
Familial Cold Urticaria |
|
Polydipsia, Hyperhidrosis |
ORPHA:47045 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Synophrys, Periodontitis, Decreased skull ossification, Hepatomegaly, Hyp... |
ORPHA:955 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib... |
OMIM:616515 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract, Bradycardia... |
OMIM:618815 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Bronchiectasis, Spinal canal stenosis, Pulmonic stenosis, Chronic oral cand... |
OMIM:618282 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... |
OMIM:600462 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Diabetes mellitus, Retinal flecks, Yellow/white lesions of the retina |
ORPHA:100996 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Flexion contracture, Glucose intolerance, Macrovesicular hepatic steatosis, Shallow o... |
OMIM:619127 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Diabetes mellitus, Telangiectasia of the skin, Indurated no... |
ORPHA:542592 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Impaired T cell function, Pure red cell aplasia, Otitis media, Hypouricemia, Autoimmun... |
OMIM:613179 |
Felty Syndrome |
|
Sinusitis, Subcutaneous nodule, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology... |
ORPHA:47612 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Micrognathia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsuline... |
OMIM:608612 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Hyperthyroidism, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia,... |
ORPHA:502423 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Periodontitis, Skin vesicle, Macule, Hepatomegaly, Aplasia/Hypoplasia... |
ORPHA:1775 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of... |
OMIM:600142 |
Srd5A3-Cdg |
|
Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Optic atrophy, ... |
ORPHA:324737 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Mucopolysaccharidosis Type 3 |
|
Progressive neurologic deterioration, Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, ... |
ORPHA:581 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cystic angiomatosis of bone, Hypertriglyceridemia, D... |
OMIM:608594 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... |
ORPHA:978 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Hernia, Cherry red spot of the macula, Retinopathy |
ORPHA:812 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Impaired glucose tolerance, Retinal degeneration |
OMIM:615630 |
Choroidal Atrophy-Alopecia Syndrome |
|
Sparse or absent eyelashes, Patchy atrophy of the retinal pigment epithelium, Abnormality of reti... |
ORPHA:1433 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Increased circulating IgE level, Coarctation of aorta, Hypertension... |
OMIM:616069 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge... |
OMIM:620085 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Absent brainstem auditory respo... |
ORPHA:90321 |
Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
Familial Multiple Lipomatosis |
|
Chorioretinitis, Hyperlipidemia |
ORPHA:199276 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Cough, Abnormal vertebral morphology, Abnormal pericardiu... |
ORPHA:284 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Limb ataxia, Seizure, Dementia, Hypogonadism, Attention deficit hy... |
OMIM:300100 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
Transaldolase Deficiency |
|
Short neck, Synophrys, Hepatic fibrosis, Atrial septal defect, Patent foramen ovale, Hepatomegaly... |
OMIM:606003 |
Xp21 Deletion Syndrome |
|
Apneic episodes in infancy, Hypertriglyceridemia, Recurrent otitis media, Elevated circulating cr... |
ORPHA:261476 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Diabetes ... |
ORPHA:48818 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemia, Chorioretin... |
ORPHA:5 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Apnea, Cardiomegal... |
ORPHA:79330 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Joint stiffness, Tetralogy of Fallot, Respir... |
ORPHA:1166 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, A... |
ORPHA:860 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... |
OMIM:614921 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia |
ORPHA:367 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr... |
ORPHA:1572 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Zygomycosis |
|
Fasciitis, Sinusitis, Rhinorrhea, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Chemos... |
ORPHA:73263 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Alpha-Mannosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Cataract, Corneal opacity, Type II diabetes me... |
ORPHA:61 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Developmental cataract, Corneal opacity |
OMIM:617183 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Glycosuria |
OMIM:613404 |
Pituitary Hormone Deficiency, Combined, 3 |
|
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... |
OMIM:221750 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Flex... |
ORPHA:206549 |
Hyperostosis Corticalis Generalisata |
|
Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis,... |
ORPHA:3416 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Hyperammonemia |
OMIM:620137 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Scoliosis, Facial palsy, Abnormal auditory evoked pote... |
OMIM:601382 |
Gaucher Disease Type 1 |
|
Osteopenia, Anorexia, Osteoarthritis, Leukopenia, Biliary tract obstruction, Hepatomegaly, Increa... |
ORPHA:77259 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Optic disc hypoplasia, Congenital malformation of the left heart, Wide penis, Synophr... |
ORPHA:3455 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parath... |
OMIM:239200 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Depr... |
ORPHA:94089 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... |
ORPHA:562639 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Preauricular pit, Epicanthus, Alopecia, Hyperpigmented papule |
ORPHA:88630 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Cataract, Corneal opacity, Optic atrophy,... |
ORPHA:93400 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Anteverted nares, Pneumonia, Depressed nasal bridge, Recurrent upper respiratory trac... |
OMIM:614069 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Trisomy 18P |
|
Bilateral cryptorchidism, Polyphagia, Facial palsy, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase c... |
OMIM:212140 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Sho... |
OMIM:613320 |
Ravine Syndrome |
|
Apnea, Abnormal auditory evoked potentials, Anorexia, Atrophy/Degeneration affecting the brainste... |
ORPHA:99852 |
8P11.2 Deletion Syndrome |
|
Preauricular pit, Hemolytic anemia, Hypoplasia of penis, Epicanthus, Retinal dystrophy, Sacral di... |
ORPHA:251066 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
Cartilage-Hair Hypoplasia |
|
Short neck, Heart block, Depressed nasal ridge, Abnormal form of the vertebral bodies, Hypocalcem... |
ORPHA:175 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Myotonia, Kyphoscoliosis |
OMIM:255710 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased circulating antibody level, Autoimmune thrombocytopenia |
OMIM:619846 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... |
ORPHA:79153 |
Isolated Growth Hormone Deficiency, Type Iv |
|
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... |
OMIM:618157 |
Alpha-Heavy Chain Disease |
|
Alopecia, Hypocalcemia |
ORPHA:100025 |
Prader-Willi Syndrome |
|
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
OMIM:176270 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Scaling ... |
ORPHA:420741 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia |
OMIM:617638 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Wide nose, Skin rash, Eosinophilia, Craniosynosto... |
OMIM:147060 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration, Mi... |
OMIM:614887 |
Paramyotonia Congenita |
|
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia, Inspiratory stridor |
OMIM:168300 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Impaired T cell function, Inflammation of the... |
OMIM:614576 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Rhinorrhea, Osteolysis i... |
ORPHA:73 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Hypoglycemia, Elbow contracture, Sensorineural hearing impairment, Percussion my... |
OMIM:620275 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Decreased circulating free fatty acid level, Increased circulating cortisol level, Recurrent hypo... |
ORPHA:79644 |
Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Apnea, Myotonia of the face, Cold-sensitive myoton... |
ORPHA:99734 |
Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Focal emotional seizure with crying, Hypothalamic hamartoma |
OMIM:241800 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Decreased circulating complement factor B concentration, Hemolytic-uremi... |
OMIM:235400 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Congestive heart fa... |
OMIM:235200 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Elevated circulating C-reactive pro... |
OMIM:617388 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Retinal degeneration, Ca... |
OMIM:615249 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Hyperostosis Cranialis Interna |
|
Abnormal vestibular function, Facial palsy, Sensorineural hearing impairment, Optic atrophy, Anos... |
OMIM:144755 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperpl... |
ORPHA:96181 |
Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Short attention span, Epicanthus, Telecanthus, Anteverted nares, Handgrip m... |
ORPHA:438216 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification o... |
OMIM:252600 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Anemia |
OMIM:606996 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Increased circulating interferon-gamma conce... |
ORPHA:51 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration |
ORPHA:370022 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Autoimmunity |
ORPHA:98827 |
Rhizomelic Chondrodysplasia Punctata |
|
Epicanthus, Alopecia, Sparse body hair |
ORPHA:177 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Li... |
ORPHA:2334 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Cardiomegaly, Short neck, Multiple prenatal fractures, Flexion contracture, Large fle... |
OMIM:616897 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea nitrogen |
OMIM:617872 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... |
OMIM:300400 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Aplasia/Hypoplasia of the lungs, Abno... |
ORPHA:2204 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hyperbilirubinemia |
OMIM:616689 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cataract, Elevated circulating creatine kinase concentration, Stroke-like episode, Hematochezia, ... |
ORPHA:79095 |
Man1B1-Cdg |
|
Resting tremor, Broad-based gait, Seizure, Polyphagia |
ORPHA:397941 |
Limited Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Autoimmunity, Foot joint contracture, Hypopigmented skin patches, Ski... |
ORPHA:220402 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Pallor, Decreased proportion of CD3-positive T cells, Decre... |
ORPHA:331206 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Failure to thrive in infancy, Spleno... |
ORPHA:834 |
Superficial Siderosis |
|
Cerebellar atrophy, Back pain, Subarachnoid hemorrhage, Partial anosmia, Atrophy of the spinal co... |
ORPHA:247245 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Apnea, Fetal ascites, Prominent nose, Ascending aorta hy... |
OMIM:619503 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Posteriorly rotated ears, Anteverted nares, Elevated circulating C-reactive protein concentration... |
OMIM:619750 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Respiratory tract infection, Pulmonary embolism, Hyperlipidemi... |
ORPHA:567546 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Recurrent cystitis, Hepatomegaly, Aplasia/Hypoplasia of the ... |
ORPHA:742 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Reduced forced expiratory volume in one second, Increased vertebral height, Hashimoto thyroiditis... |
OMIM:613385 |
Cebalid Syndrome |
|
Seizure, Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:601847 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Depressed nasal bridge, Recurrent fractures, Short neck, Kyph... |
ORPHA:140 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Recurrent infection... |
OMIM:617519 |
Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bla... |
ORPHA:64 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystroph... |
OMIM:618373 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... |
OMIM:619991 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... |
OMIM:604229 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Renal neoplasm, Anteverted nares, ... |
ORPHA:536467 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... |
OMIM:616648 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p... |
ORPHA:125 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Autoi... |
OMIM:617780 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Highly arched eyebrow, Abnormal repetitive mannerisms, Arteria lusoria, Overfolded he... |
OMIM:618653 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Coronary artery calcification, Cardiomegaly... |
OMIM:208000 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Abnormal cy... |
ORPHA:158048 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypog... |
ORPHA:91347 |
Hyperkalemic Periodic Paralysis |
|
Myotonia, Hyperkalemia |
OMIM:170500 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:99880 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Dubowitz Syndrome |
|
Aplastic anemia, Protruding ear, Otitis media, Hypocholesterolemia, Decreased circulating IgG lev... |
OMIM:223370 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Percussion myotonia, Dysphagia |
ORPHA:34516 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate ... |
OMIM:252920 |
Acetazolamide-Responsive Myotonia |
|
Myotonia, Dysphagia |
ORPHA:99736 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Abnormality of the nail, Ectropion |
ORPHA:79394 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Glutaric aciduria, 3-Methylglutaric aciduria,... |
ORPHA:26791 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short attention span, Ataxia, Recurrent ear infections, Aggressive behavior, Self-injurious behav... |
OMIM:156200 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration |
OMIM:615555 |
Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Micropenis, Hepatomegaly, Osteoporosis, Renal insuf... |
OMIM:133540 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti... |
ORPHA:79282 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... |
OMIM:616468 |
Charge Syndrome |
|
Secundum atrial septal defect, Hemivertebrae, Hypocalcemia, Atrial septal defect, Pulmonary arter... |
OMIM:214800 |
16P12.1P12.3 Triplication Syndrome |
|
Nail-biting, Hyperactivity, Decreased response to growth hormone stimulation test, Bilateral cryp... |
ORPHA:485405 |
Menkes Disease |
|
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Intracranial hemorrhag... |
OMIM:309400 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gam... |
ORPHA:563 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Incontinentia Pigmenti |
|
Uveitis, Spina bifida occulta, Infectious encephalitis, Abnormal chorioretinal morphology, Skin u... |
ORPHA:464 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Eczema, Keratitis, Thoracolumba... |
OMIM:618523 |
Retinal Cone Dystrophy 3B |
|
Cone/cone-rod dystrophy, Astigmatism, Macular atrophy |
OMIM:610356 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... |
OMIM:615482 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Neonatal respiratory distress, Epicanthus, Stage 5 chronic kidney di... |
OMIM:194080 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:143 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Ankle flexion contracture, Abnormal erythrocyte enzyme lev... |
ORPHA:100924 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Blau Syndrome |
|
Large vessel vasculitis, Abnormality of the liver, Abnormal optic nerve morphology, Posterior uve... |
ORPHA:90340 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Congestive heart failure, Dyspnea,... |
ORPHA:220393 |
Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
Xq21 Microdeletion Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... |
ORPHA:1435 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Acute Interstitial Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Nodular pattern on pulmonary HRC... |
ORPHA:79126 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity |
ORPHA:578 |
Marcus-Gunn Syndrome |
|
Unilateral ptosis, Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Morning glor... |
ORPHA:91412 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Idiopathic Camptocormia |
|
Myositis, Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Elevated circul... |
ORPHA:1320 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, ... |
OMIM:300310 |
Myasthenic Syndrome, Congenital, 22 |
|
Waddling gait, Decreased response to growth hormone stimulation test |
OMIM:616224 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Epicanthus, Upslanted palpebral fissure, Thin eyebrow |
ORPHA:3242 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Optic atrophy, Dilated cardiomyopathy, Pigmentary retinopathy, Hypertrophic ... |
OMIM:252011 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Distal joint laxity, Generalized joint lax... |
ORPHA:1900 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Localized pulmonary hemorrhage, Uveitis, Granulomatosis, Conjunctivitis, Cough, Chroni... |
OMIM:608710 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia |
OMIM:211600 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy... |
OMIM:609049 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Nonproductive cough, Uve... |
ORPHA:99826 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Reduced bone mineral density, Hypocalcemia, Otitis media, Pallor, Hepatomegaly, Pulmonary ... |
ORPHA:667 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,... |
ORPHA:171442 |
Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgG level, T lymphocytopenia, Lymphocytosis, Neutropenia, Decreased proport... |
ORPHA:169154 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Facial palsy, Craniosy... |
OMIM:259700 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Hypomagnesemia, Seizure, Hypokalemia, Increased circulating renin level, De... |
OMIM:263800 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Multiple lipomas |
ORPHA:122 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf... |
OMIM:301000 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Insulin-resistant diabetes mellitus, Rod-cone dystrophy, Subcapsular cata... |
OMIM:268020 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Hemolytic anemi... |
OMIM:615846 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptor... |
OMIM:614732 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Hyphema, Leukocoria, Retinal ... |
OMIM:221900 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Pigmentary retinopathy, Hypertrophic cardiomyopathy, Congestive h... |
OMIM:618234 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Elevated circulating creatine kinase concentration, Short neck, Secundum atrial septal defect, He... |
OMIM:608779 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Gitelman Syndrome |
|
Maternal diabetes, Hyperhidrosis, Iron deficiency anemia, Hypocalcemia, Hashimoto thyroiditis, Sa... |
ORPHA:358 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Diabetes mellitus, Thrombocytosis, Sclerosis of foot bone, R... |
ORPHA:2905 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Kikuchi-Fujimoto Disease |
|
Erythematous macule, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... |
ORPHA:50918 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Epicanthus, Recurrent fractures, Camptodactyly of finger, Short neck, Promin... |
ORPHA:3409 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... |
ORPHA:83461 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Chondritis |
ORPHA:564003 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Nail dystrophy, Atrichia |
ORPHA:1867 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Sinusitis, Stiff neck, Facial palsy, Pneumonia, Confusion, Pus... |
ORPHA:68 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebra... |
ORPHA:666 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... |
OMIM:607485 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Pigmentary retinopathy, Flexion contracture, Elevated circ... |
OMIM:613156 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Hypertrophic cardiomyopathy, Diabetes mellitus, Arrhythmia |
ORPHA:96 |
Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, Aganglionic megacolon, White eyebrow, Porta... |
OMIM:609136 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Depressed nasal bridg... |
ORPHA:2635 |
Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Asthma, Pancreatitis |
OMIM:619471 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Absent eyelashes, Rod-cone dystrophy, Abnormal vena cava morphology, Cafe-au-lait... |
ORPHA:166035 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... |
OMIM:612109 |
Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig... |
ORPHA:74 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Vacuolated lymphocytes, Flexion contracture... |
OMIM:230000 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Stroke-like episode, Macular degeneration, Cataract, Recurrent infections |
OMIM:619780 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp... |
OMIM:225750 |
Rhyns Syndrome |
|
Anterior hypopituitarism, Pituitary hypothyroidism, Decreased response to growth hormone stimulat... |
OMIM:602152 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... |
OMIM:615481 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes... |
OMIM:615145 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Ochoa Syndrome |
|
Cryptorchidism, Recurrent urinary tract infections, Polydipsia |
ORPHA:2704 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:44 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Optic atrophy, Abnormal amplitude of pattern reversal visual... |
OMIM:125250 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy |
ORPHA:141 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ea... |
ORPHA:284169 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Right ventricular failure, Reduced c... |
ORPHA:90363 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Pneumonia, Anorexia, Eosinophilia, Recurrent pneumonia, He... |
ORPHA:169160 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Leigh Syndrome |
|
Multiple joint contractures, Progressive neurologic deterioration, Complex organic aciduria, Abno... |
ORPHA:506 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Hypertrophic cardiomyopathy, Retinal degeneration |
OMIM:616896 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Cardiomegaly, Hepatomegaly, Anteverted nares, Th... |
OMIM:252500 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
Nephrogenic Diabetes Insipidus |
|
Anorexia, Nephrogenic diabetes insipidus, Seizure, Polydipsia, Hypernatremia |
ORPHA:223 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Small e... |
OMIM:264090 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
T lymphocytopenia, Scaling skin, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion ... |
OMIM:606367 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-s... |
OMIM:201810 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
Retinitis Pigmentosa 23 |
|
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... |
OMIM:300424 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Micropenis, Abnormality of the sense of smell |
OMIM:146110 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Sacral dimple, Dilation of Virchow... |
ORPHA:544488 |
Acquired Purpura Fulminans |
|
Shock, Erythematous macule, Macule, Skin rash, Elevated circulating C-reactive protein concentrat... |
ORPHA:49566 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... |
ORPHA:66529 |
Chilblain Lupus 1 |
|
Raynaud phenomenon, Antinuclear antibody positivity, Chilblains, Skin ulcer |
OMIM:610448 |
Gorlin Syndrome |
|
Vertebral fusion, Epicanthus, Telecanthus, Palmar pits, Plantar pits, Hemivertebrae, Wide nasal b... |
ORPHA:377 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Polycystic ovaries, Seizure, Recurrent otitis media, Polyphagia |
OMIM:616831 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Adrenal insufficiency |
ORPHA:251076 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Palpebral edema, Absen... |
OMIM:137940 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
Buerger Disease |
|
Acrocyanosis, Vasculitis, Skin ulcer |
ORPHA:36258 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, T lymphocytopenia, Irregular vertebral endplates, Neutropenia, Ju... |
OMIM:607944 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Long nose, T lymphocytopenia, Decreased c... |
ORPHA:508533 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Progressive... |
OMIM:230600 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia |
OMIM:185000 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Absent eyelashes, Hyperlipidemia, Thin skin, Dermal atrophy, Hyperpi... |
ORPHA:90153 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Papilledema, Ski... |
ORPHA:2072 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Downslanted palpebral fissures, Retinal degeneration, Ptosis |
ORPHA:442835 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Choanal atresia, Sensorineural hearing impairment, Anosmia, Hyposmia, Micropenis |
OMIM:147950 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Myocardial infarction, Abnormal eyelid morphology, Acrocyanosis, ... |
ORPHA:221 |
Congenital Factor Xii Deficiency |
|
Retinal vein occlusion, Penetrating foot ulcers, Retinal arteriolar occlusion |
ORPHA:330 |
Graft Versus Host Disease |
|
Stomatitis, Trismus, Oral ulcer, Hyperbilirubinemia |
ORPHA:39812 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... |
ORPHA:767 |
Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Ectropion |
ORPHA:100976 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
Scedosporiosis |
|
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... |
ORPHA:449280 |
Juvenile Sialidosis Type 2 |
|
Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Umbilical hernia, Cherry red spot of t... |
ORPHA:93399 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Juvenile cataract |
ORPHA:1264 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Synophrys, Renal cyst, Thickened helices, Chronic oti... |
ORPHA:261494 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, I... |
OMIM:615285 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Overlap Myositis |
|
Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... |
ORPHA:206572 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
Alport Syndrome |
|
Mesangial hypercellularity, Macular degeneration, Cough, Nephritis, Tubulointerstitial fibrosis, ... |
ORPHA:63 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
Trichohepatoenteric Syndrome 1 |
|
Narrow mouth, Wide mouth, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality ... |
OMIM:222470 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Limitation of movement at ankles, Decreased distal sen... |
ORPHA:206594 |
Glycerol Kinase Deficiency |
|
Downturned corners of mouth, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia |
OMIM:307030 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Seizure, H... |
ORPHA:1827 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Subcutaneous nodule, Infectious en... |
ORPHA:117 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Satoyoshi Syndrome |
|
Alopecia, Mildly elevated creatine kinase, Alopecia universalis |
OMIM:600705 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Inc... |
ORPHA:79094 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Prominent superficial veins, Thoracic scoliosis, Redundant skin, Carotid artery steno... |
OMIM:618000 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
8P23.1 Microdeletion Syndrome |
|
Short neck, Atrioventricular canal defect, Hypospadias, Patent ductus arteriosus, Pulmonary arter... |
ORPHA:251071 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Diabetes mellitus, Retinal dystrophy, Cataract, Hyperaut... |
OMIM:209900 |
Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
Distal Deletion 10Q |
|
Prominent nose, Functional abnormality of the bladder, Protruding ear, Atrial septal defect, Vesi... |
ORPHA:96148 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Localized Scleroderma |
|
Fasciitis, Flexion contracture, Uveitis, Hashimoto thyroiditis, Abnormality of the kidney, Raynau... |
ORPHA:90289 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Hurler Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Corneal opacity, Flexion... |
OMIM:607014 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Vascular Ehlers-Danlos Syndrome |
|
Redundant skin, Osteoarthritis, Subcutaneous nodule, Protruding ear, Periodontitis, Internal hemo... |
ORPHA:286 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Decreased circulating IgG level, Juvenile rheumatoid arthritis, Hashimoto thyroidit... |
ORPHA:275 |
Boomerang Dysplasia |
|
Omphalocele, Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
Timothy Syndrome |
|
Pneumonia, Bronchitis, Patent ductus arteriosus, Hypocalcemia, Pulmonary arterial hypertension, T... |
OMIM:601005 |
Fg Syndrome Type 1 |
|
Prominent nose, Generalized joint laxity, Compulsive behaviors, Atrial septal defect, Hypospadias... |
ORPHA:93932 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Downslanted palpebral fissures, N... |
ORPHA:3253 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93924 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Postnatal growth retardation, Respiratory infections in early life, Elevated amniotic fluid alpha... |
ORPHA:96179 |
Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Broad-based gait, Decreased response to growth... |
OMIM:601808 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumoni... |
ORPHA:486 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Se... |
OMIM:617864 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Elevated circulating creatine kin... |
ORPHA:167635 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, Neonatal... |
ORPHA:199296 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Cough, Emphys... |
OMIM:613658 |
Bartsocas-Papas Syndrome |
|
Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Sparse or absent eyelashes, Eyelid colob... |
ORPHA:1234 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Tr... |
ORPHA:478 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia |
OMIM:611881 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia |
OMIM:300908 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonychia, Alopecia u... |
OMIM:609638 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Hypogonadotropic hyp... |
ORPHA:52901 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrh... |
ORPHA:624 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Torticollis, Oculogyric crisis, Tongue thrusting, Limb tremor, Hype... |
OMIM:608643 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Neck joint... |
OMIM:193700 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Adrenal hypopla... |
OMIM:617053 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... |
OMIM:302950 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine... |
ORPHA:3202 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Hypertrophic cardiomyopathy |
ORPHA:496790 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus |
ORPHA:1573 |
Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Alopecia, Sparse eyelashes, Lower eyelid coloboma, Preauricular skin tag |
OMIM:616367 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Hypoalbuminemia, Smooth tongue, Oral mucosal blisters |
ORPHA:79396 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Iris coloboma, Posterior synechiae of the anterior chamber |
OMIM:616722 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Back pain, Increased circulating interleukin 6 concentration, Anuria, Acute... |
ORPHA:340 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Bilateral ptosis, Sensorineural hearing i... |
ORPHA:1215 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Anosmia, Osteoporosis, Hearing impairment |
OMIM:615267 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Tubulointerstitial nephritis, Abnormal optic nerve morphology, Increased circulating Ig... |
ORPHA:79078 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Hypoplasia of penis, Wide nose, Eczema, Hearing impairment, Short neck, Camptodactyly... |
ORPHA:284160 |
Wolman Disease |
|
Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency, Steatorrhea, ... |
ORPHA:75233 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Occipital Horn Syndrome |
|
Osteopenia, Venous insufficiency, Osteomalacia, Osteoporosis, Hepatitis, Abnormality of the sense... |
ORPHA:198 |
White-Sutton Syndrome |
|
Short neck, Hypoglycemic seizures, Tics, Atrial septal defect, Abnormal repetitive mannerisms, Pa... |
OMIM:616364 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypokalemia, Cognitive impai... |
ORPHA:411629 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Osteoporosis, Obesity, Anosmia, Hyposmia, Micropenis |
OMIM:610628 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... |
OMIM:602782 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Radiation Proctitis |
|
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Rectal... |
ORPHA:70475 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Generalized joint laxity, Rig... |
OMIM:619472 |
Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Telangiectasia ... |
ORPHA:1556 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Cataract, Optic atrophy, Stroke-like episode, Pigmentary retinopathy, Cardiomy... |
OMIM:222300 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Abnormal aor... |
ORPHA:3222 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Hypercalcemia, Elevated circula... |
ORPHA:97280 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Tetralogy of Fallot, Decreased response to growth hormone stimulat... |
OMIM:220210 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Hydroxyprolinemia, Angioid streaks of the fundus, Hyperphosphatemia, Hyperuricemia,... |
OMIM:239000 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... |
ORPHA:284227 |
Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, T-wave inversion, Bradyc... |
ORPHA:228346 |
Iga Pemphigus |
|
Autoimmune antibody positivity, Monoclonal elevation of circulating IgA, Increased circulating Ig... |
ORPHA:555905 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Subcutaneous nodule, Abnormality of th... |
ORPHA:228119 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia |
OMIM:613673 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, O... |
OMIM:614702 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Acute hepatic failure, Abnormality of the urethra, Conjunctivitis, Neutrope... |
ORPHA:537 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Orthostatic ... |
ORPHA:95409 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism... |
ORPHA:3260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E... |
OMIM:619355 |
Ollier Disease |
|
Joint stiffness, Subcutaneous nodule, Osteolysis, Skin ulcer, Platyspondyly, Lymphangioma, Anemia |
ORPHA:296 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Recurrent infections, Recurre... |
ORPHA:309288 |
Carney Complex |
|
Neoplasm of the pancreas, Atypical nevi in non-sun exposed areas, Cardiac myxoma, Congestive hear... |
ORPHA:1359 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus, Hyperhidrosis, Depression, Myoclon... |
OMIM:184850 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Sepsis |
ORPHA:873 |
Pachyonychia Congenita |
|
Alopecia, Epidermoid cyst, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dys... |
ORPHA:2309 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Oculodentodigital Dysplasia |
|
Abnormality of the ear, Abnormal form of the vertebral bodies, Conductive hearing impairment, Bro... |
ORPHA:2710 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Thin skin, Dermal atrophy, Hyperpigmentation of the skin |
ORPHA:90154 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... |
ORPHA:79124 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Vertigo, Increased hemoglobin, Increase... |
OMIM:133100 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abno... |
ORPHA:354 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia |
ORPHA:71275 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Rapp-Hodgkin Syndrome |
|
Ptosis, Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spars... |
OMIM:129400 |
Keutel Syndrome |
|
Pulmonary artery stenosis, Alopecia, Dermal atrophy |
ORPHA:85202 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, ... |
OMIM:618394 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Narrow palpebral fissure, Small nail, Aplasia cutis congenita |
OMIM:614219 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Osteomalacia, Recurrent fractures, Short neck, Camptodact... |
ORPHA:2176 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Generalized-onset seizure, Optic atrophy, Congenital hypothyroidism... |
OMIM:617527 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Kury-Isidor Syndrome |
|
Alopecia, Sacral dimple, Hypertrichosis, Downslanted palpebral fissures, Ptosis |
OMIM:619762 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacc... |
ORPHA:308552 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Abnormal lymphocyte proliferation, A... |
ORPHA:99867 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Retinal vasculit... |
OMIM:618969 |
Axial Spondylometaphyseal Dysplasia |
|
Cataract, Retinal dystrophy, Peripheral retinal degeneration, Mild postnatal growth retardation, ... |
ORPHA:168549 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Otitis media, Compulsive behav... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Otitis media, Compulsive behav... |
ORPHA:353277 |
Isolated Growth Hormone Deficiency, Type Ii |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
OMIM:173100 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Wagro Syndrome |
|
Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Emotional labili... |
OMIM:612469 |
Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypohidrosis, Hypokalemia, Polydipsia |
OMIM:617671 |
Spondyloenchondrodysplasia |
|
Anti-dsDNA antibody positivity, Juvenile rheumatoid arthritis, Autoimmune thrombocytopenia, Rayna... |
ORPHA:1855 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Opacification of the c... |
OMIM:214110 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Hepatomegaly, Portal hypertension, Ost... |
ORPHA:465508 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Adrenogenita... |
OMIM:202010 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Familial Dysautonomia |
|
Hyponatremia, Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Corneal opa... |
ORPHA:1764 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Hyperkalemia, Hyperactive renin-angiotensin syste... |
OMIM:264350 |
Melas |
|
Wolff-Parkinson-White syndrome, Nephropathy, Dilated cardiomyopathy, Stroke-like episode, Depress... |
ORPHA:550 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Flexion contracture, Hepatic steatosis, Patent foramen ovale, Hepato... |
ORPHA:17 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Restlessness, Broad-based gait, Aggressive behavior, Cryptorchidism, S... |
ORPHA:251028 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Choroidal neovascularization, Cardi... |
ORPHA:51608 |
Relapsing Polychondritis |
|
Large vessel vasculitis, Uveitis, Conjunctivitis, Cough, Chondritis, Macule, Glomerulopathy, Atel... |
ORPHA:728 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Autoimmunity, Abscess, Thrombocytopenia, Recurrent upper respira... |
OMIM:615758 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Recurrent infect... |
OMIM:618336 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media |
OMIM:601457 |
Cohen Syndrome |
|
Decreased response to growth hormone stimulation test, Optic atrophy, Neutropenia, Seizure, Leuko... |
OMIM:216550 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, Abnormal atrioventricular conduction, Cardiomyopathy |
ORPHA:329336 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals |
OMIM:210370 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Increase... |
OMIM:304790 |
Webb-Dattani Syndrome |
|
Bilateral tonic-clonic seizure, Decreased response to growth hormone stimulation test, Anterior p... |
OMIM:615926 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Skin nodule, Vasculitis, Leukocytosis, Conjunctivitis, Cerebral ... |
ORPHA:26137 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Hypoglycemia, Optic nerve hypoplasia, Patent ductus arteriosus, Se... |
OMIM:220120 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Micrognathia |
OMIM:208085 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Anosmia, Finger joint hypermobility, Hyposmia, Micropenis, Hearing imp... |
OMIM:244200 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Impaired gluconeogenesis, Low plasma citrulline, Hypoglycemia, Fasting hypoglycemia |
OMIM:261680 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posterior embryotoxon, Patent ductus arteriosus, Telangiectasia, Pigmentary retinopathy, Axenfeld... |
OMIM:612582 |
Esophageal Atresia |
|
Respiratory distress, Maternal diabetes, Bronchitis, Abnormality of the ear, Pallor, Aspiration, ... |
ORPHA:1199 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Pancytopenia, Diffuse cerebral atrophy, Proteinuria, Recurrent myoglobinuria,... |
OMIM:607426 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Trichothiodystrophy |
|
Multiple joint contractures, Recurrent bronchopulmonary infections, Absence of subcutaneous fat, ... |
ORPHA:33364 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Macroglossia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Facial palsy, Craniosynostosis, Optic atrophy, Hearing impairment |
ORPHA:178377 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... |
ORPHA:97282 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi... |
OMIM:616959 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin... |
OMIM:236670 |
Mixed Connective Tissue Disease |
|
Myositis, Leukopenia, Nephropathy, Hepatomegaly, Hemolytic anemia, Prolonged bleeding time, Media... |
ORPHA:809 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Facial palsy, Skin ulcer, Congenital localized absence of skin, Abnormal... |
ORPHA:1114 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum |
OMIM:616576 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... |
OMIM:602499 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Diabetes mellitus, Rod-cone dystrophy |
OMIM:605231 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Hypercalcemia, Elevated circula... |
ORPHA:97283 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Increased bone mineral density, Choroidal neovascularization,... |
OMIM:259900 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity, Congenital diaphragmatic hernia |
OMIM:166300 |
Isolated Osteopoikilosis |
|
Increased bone mineral density, Abnormally ossified vertebrae, Abnormality of the kidney, Autoimm... |
ORPHA:166119 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... |
ORPHA:98908 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Familial Expansile Osteolysis |
|
Conductive hearing impairment, Osteolysis, Elevated circulating alkaline phosphatase concentratio... |
OMIM:174810 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy... |
OMIM:181000 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Cough, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, Mediastinal... |
OMIM:620233 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Elevated circulating ... |
OMIM:248600 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Cryptorch... |
ORPHA:94065 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Inguinal hernia, Cataract, Lipodystrophy, Corneal opacity, Po... |
ORPHA:2962 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Synophrys, Protruding ear, Abnormal curvature of the vertebral ... |
OMIM:619475 |
Majeed Syndrome |
|
Flexion contracture, Cough, Papule, Hepatomegaly, Glomerulopathy, Increased bone mineral density,... |
ORPHA:77297 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentrati... |
OMIM:618886 |
Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:79323 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Recurrent pneumonia, Increased circulating IgE le... |
OMIM:619752 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio... |
OMIM:106260 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension, Ataxia, Bilateral tonic-clonic seizure, Pr... |
OMIM:268800 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Bloom Syndrome |
|
Hepatic steatosis, Small for gestational age, Elevated hemoglobin A1c, Prominent nose, Recurrent ... |
OMIM:210900 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Astigmatism, Retinal degeneration, Vascular granular osmiophilic material deposition |
ORPHA:168491 |
Intermediate Uveitis |
|
Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ... |
ORPHA:279914 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, A... |
ORPHA:84 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... |
ORPHA:743 |
Ppoma |
|
Neoplasm of the pancreas, Subcutaneous lipoma, Hypercalcemia, Elevated circulating growth hormone... |
ORPHA:97278 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... |
ORPHA:859 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613808 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Seizure, Elevated circulating parathyroid hormone level, Hype... |
OMIM:248250 |
Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria |
OMIM:229600 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... |
OMIM:619705 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Reduced bone mineral density, Hypotriglyceridemia, Hepatomegaly... |
ORPHA:404454 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Pulmonary artery stenosis, Congenital diaphragmatic hernia |
OMIM:611812 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Developme... |
OMIM:613154 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:95626 |
Adrenomyeloneuropathy |
|
Abnormal circulating fatty-acid concentration, Primary adrenal insufficiency, Adrenocorticotropic... |
ORPHA:139399 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Ectropion |
OMIM:275630 |
Chime Syndrome |
|
Ptosis, Epicanthus, Ventricular septal defect, Abnormality of the kidney, Pulmonary valve atresia... |
ORPHA:3474 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypothyroidism,... |
ORPHA:699 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Cirrh... |
OMIM:178500 |
Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Facial ... |
OMIM:259720 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Skin ulcer, Excessive wrinkled skin, ... |
ORPHA:2500 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Lymphopenia, Atrophic gastritis, Psoriasiform dermatit... |
OMIM:616100 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Thickened helices, Atrial septal defect, Patent foramen ovale, Preauricular pit, Tric... |
OMIM:617506 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis, Anosmia, Bifid nose, Hyposmia, Micropenis |
OMIM:614838 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Situs inversus totalis, Asplenia, Atelectasis, Anosmia, Bronchiectasi... |
OMIM:244400 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... |
OMIM:618278 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas... |
OMIM:618987 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration |
OMIM:253700 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration, Cataract, Tortuosity of conjunctival vessels |
ORPHA:284289 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphos... |
ORPHA:702 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Multifocal seizures, Decreased response to growth hormone stimulation test, Inab... |
ORPHA:488632 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Elevated circulating creatine kinase ... |
ORPHA:26793 |
Macs Syndrome |
|
Epicanthus, Alopecia, Palpebral edema, Dilation of Virchow-Robin spaces, Sparse eyebrow, Sparse h... |
OMIM:613075 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Cardiomegaly, Congestive heart failure, Respiratory insufficiency, Scoliosis |
OMIM:618654 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Progressive neurologic deterioration, Oral-pharyngeal dysphagia,... |
OMIM:219800 |
Opticocochleodentate Degeneration |
|
Mental deterioration, Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Abnormal hair morphology, Small nail, Ectropion |
OMIM:242100 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Diabetes insipidus, Decreased response to growth hormone stimulation test... |
OMIM:182230 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Short neck, Renal hypoplasia/aplasia, Kyphosis, Hemivertebrae,... |
ORPHA:958 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia |
OMIM:266265 |
Kabuki Syndrome 2 |
|
Protruding ear, Atrial septal defect, Atrioventricular canal defect, Joint laxity, Highly arched ... |
OMIM:300867 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Glucose intolerance, Ve... |
OMIM:194050 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Upslanted palpebral fissure, Alopecia, Telecanthus, Fine hair |
ORPHA:228390 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Aspiration, Hypoventilation, Facial palsy, Hyperlordosis, Atelecta... |
ORPHA:258 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Corneal opacity |
ORPHA:585 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Pyo... |
OMIM:604416 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hyperactivity, Decreased re... |
OMIM:615873 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Otitis media, Rod-cone dystrophy, Chronic sinusitis, Recurrent bronchitis, High-freq... |
OMIM:300455 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... |
OMIM:616636 |
Double Outlet Right Ventricle |
|
Tachycardia, Cyanosis, Ventricular septal defect, Failure to thrive, Depressed nasal bridge, Abno... |
ORPHA:3426 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Paronychia, Skin ... |
ORPHA:37 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Cardi... |
OMIM:619064 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Digeorge Syndrome |
|
Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hep... |
OMIM:188400 |
Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Absent fingernail, Arteri... |
ORPHA:974 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Recurrent respiratory infections, Respiratory insufficiency, Osteolyti... |
ORPHA:2484 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Epicanthus, Dilation of Virchow-Robin spaces, Depressed nasal bridge,... |
OMIM:605309 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo... |
ORPHA:822 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating IgA level, Peritonitis, Vasculit... |
ORPHA:343 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Cryp... |
OMIM:603671 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Eczema, Highly arched eyebrow, Short neck, Sparse... |
ORPHA:1001 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Hypopigmente... |
ORPHA:1647 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Nevus sebaceous, Coarctation of aorta, Linear nevus sebaceous, Nevus, Hypophosphatemic ... |
OMIM:163200 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Prominent superficial veins, Thin bony cortex, Telangiectasi... |
ORPHA:75508 |
Monosomy 18P |
|
Epicanthus, Ptosis, Alopecia, Low posterior hairline |
ORPHA:1598 |
Leopard Syndrome 1 |
|
Bundle branch block, Limited elbow movement, Short neck, Depressed nasal ridge, Protruding ear, M... |
OMIM:151100 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Vertigo, Skin ulcer, Telangiectasia, Interstitial pneumonit... |
ORPHA:454831 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Methylmalonic acidemia, Hypoglycemia, Cerebellar hemorrhage, ... |
OMIM:251000 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Vertigo, Periphe... |
ORPHA:71493 |
Focal Dermal Hypoplasia |
|
Omphalocele, Inguinal hernia, Telangiectasia of the skin, Abnormal dental enamel morphology, Cong... |
ORPHA:2092 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Grfoma |
|
Neoplasm of the pancreas, Subcutaneous lipoma, Hypercalcemia, Elevated circulating growth hormone... |
ORPHA:97261 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Hearing impairment, Penetrating foot ulcers, Skin ulcer, Cough, Abnormality of the... |
ORPHA:36386 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... |
ORPHA:431361 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcin... |
OMIM:617913 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Hypopigmented skin patches |
ORPHA:3143 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Abnormal internal carotid artery morphology, Abnormal lung morphology, Cerebral arter... |
ORPHA:97685 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia |
OMIM:224120 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Failure to thrive, Sparse eyelashes, Increased circulating ... |
OMIM:610768 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Neurofibromatosis Type 1 |
|
Abnormal eyelid morphology, Subcutaneous nodule, Chorioretinal coloboma, Macule, Abnormality of t... |
ORPHA:636 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Osteomyelitis, Hypoglycemia, Recurrent fractures, Tarsal synostosis,... |
ORPHA:565 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Aggressive... |
OMIM:620330 |
Joubert Syndrome 3 |
|
Epicanthus, Retinal dystrophy, Highly arched eyebrow, Pigmentary retinopathy, Ptosis |
OMIM:608629 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Dilation of Virchow-Robin spaces |
OMIM:619517 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Paroxysmal bursts of laughter, Precocious puberty, C... |
ORPHA:672 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Keratoconjunctivitis |
ORPHA:79242 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Arrhythmia, Camptodactyly of finger, Abnormality of the sense of smell |
ORPHA:3201 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Upslanted palpebral fissure, Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy... |
ORPHA:436245 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Epicanthus, Posteriorly rotated ears, Elevated circulating creatine kinase ... |
OMIM:618733 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Epicanthus, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Wide... |
OMIM:277440 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Reduced bon... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Reduced bon... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Reduced bon... |
ORPHA:99226 |
Juberg-Hayward Syndrome |
|
Decreased response to growth hormone stimulation test |
OMIM:216100 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Reduced bon... |
ORPHA:881 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper... |
ORPHA:60032 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Congenital diaphragmatic hernia, Optic disc coloboma, Elevated circul... |
ORPHA:2260 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Epicanthus... |
ORPHA:1052 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Bicuspid aortic valve, Osteolysis involving bones of the upper limbs, Subcutaneous no... |
ORPHA:371428 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Scleroti... |
OMIM:615198 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, EEG abnormality, Reduced left ventricular ejection fracti... |
OMIM:614096 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... |
OMIM:602450 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Senior-Boichis Syndrome |
|
Aggressive behavior, Hepatosplenomegaly, Carotid artery dilatation, Agitation, Attention deficit ... |
ORPHA:84081 |
Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Corneal opacity, Coarctation of aorta, Multiple lipomas, Abnormal aortic morpholog... |
ORPHA:2396 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Cataract, Corneal opacity, Recurrent upper respiratory tract infections, Mult... |
ORPHA:2399 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Subcutaneous n... |
ORPHA:2028 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Subcutaneous nodule, Flexion contracture, Limit... |
ORPHA:231 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Systemic Lupus Erythematosus 17 |
|
Alopecia |
OMIM:301080 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Corneal opacity, Hernia |
ORPHA:93476 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Retinal pigment epithelial mottling, Epicanthus, Downslanted palpebral fi... |
OMIM:614105 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Numerous nevi, Epicanthus, Depressed nasal bridge, Elevated circulating creati... |
ORPHA:314389 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Zellweger Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po... |
ORPHA:912 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Adnp Syndrome |
|
Recurrent urinary tract infections, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphag... |
ORPHA:404448 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Hyperammonemia, Aspiration pneumonia |
OMIM:618253 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Epicanthus, Depressed nasal bridge, Sensorineural hearing impairment, Optic atrophy... |
ORPHA:2971 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Psychomotor deterioration, Redundant neck skin, Anteverted nares, Redundant skin, Subretinal pigm... |
ORPHA:357074 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Acrootoocular Syndrome |
|
Pseudopapilledema, Decreased response to growth hormone stimulation test, Grayish enamel, Choking... |
ORPHA:2980 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Macule, Proteinuria, Episclerit... |
ORPHA:761 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Retinal atrophy, Type II diabetes mellitus |
ORPHA:412057 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in presence o... |
OMIM:615952 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Decreased response to growth horm... |
ORPHA:319182 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Micropenis, Osteoporosis, Anosmia |
OMIM:614880 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cholangitis, Anti-thyroid peroxidase antibody positivity, Low-set, posteri... |
ORPHA:228426 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... |
OMIM:616037 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Seizure, Hypokalemia, ... |
ORPHA:411634 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph... |
ORPHA:2715 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... |
OMIM:618986 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Cardiomyopathy, Lattice corneal dystrophy, Generalized amyloid deposition |
OMIM:105120 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon... |
OMIM:240300 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuron morphology, Respira... |
ORPHA:2590 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthrit... |
OMIM:619510 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia, Sensorineural hearing impairment |
OMIM:612702 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Peripheral pulmonary artery stenosis, Accessory spleen, Joint laxity, Redundant skin,... |
OMIM:613177 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Knee flexion contracture, Abn... |
ORPHA:3208 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thicknes... |
OMIM:614170 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Proteinuria, Pulsatile tinnitus, Cerebral hemorrhage, Elevated urinary ... |
ORPHA:276621 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Epicanthus, Posteriorly rotated ears, Facial palsy, Hyperlordosis... |
ORPHA:2780 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Ventricular septal defect, Renal hypopla... |
ORPHA:1926 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Elevated hemoglobin A1c, Abnormality of the sense of smell, Progressive hearing imp... |
OMIM:616113 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Hennekam Syndrome |
|
Ectopic kidney, Hypocalcemia, Conductive hearing impairment, Depressed nasal bridge, Pericardial ... |
ORPHA:2136 |
Parkes Weber Syndrome |
|
Back pain, Cerebral arteriovenous malformation, Spinal arteriovenous malformation, Scaling skin, ... |
ORPHA:90307 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ataxia, Primary adrenal insufficienc... |
OMIM:530000 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Inguinal hernia, Retinal degeneration, Decreased circulating anti... |
OMIM:248500 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Otitis media, Compulsive behav... |
ORPHA:353281 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Preauricular pit, Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia, Short neck... |
ORPHA:2516 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Synophrys, Conotruncal defect, Subcortical cerebral atrophy, Vesicoureteral ... |
ORPHA:96147 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flec... |
ORPHA:157850 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Prader-Willi Syndrome Due To Translocation |
|
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... |
ORPHA:177907 |
Weaver Syndrome |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Cryptorchidism, Patent ductus arteriosus, Genera... |
OMIM:277590 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Increased circulating ferritin con... |
ORPHA:3240 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Ataxia, Optic atrophy, Adrenocorti... |
OMIM:231550 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Sparse eyebrow, Rod-cone dystrophy, Hypoautofluorescent retinal lesion, Cafe-au... |
OMIM:250410 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Uveitis, Conjunctivit... |
ORPHA:32960 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Patent ductus arteriosus, Abnormal cardiac ventricle mor... |
ORPHA:2306 |
Sézary Syndrome |
|
Alopecia, Nail dystrophy, Ectropion |
ORPHA:3162 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Skin ulcer, Skin fissure, Sparse hair |
ORPHA:659 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal au... |
ORPHA:85447 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Kyphosis, Synophrys, Protruding ear, Decreased circulating total IgM, Scolios... |
OMIM:300861 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal cyst, Microphallus, Compulsive behaviors, Vesicoureteral reflux, Patent foramen ovale, Ante... |
OMIM:618454 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Posterior subcapsular cataract, Recurrent infections, Rod-con... |
OMIM:615434 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Subcutaneous nodule, Bicarbonaturia, Aminoaci... |
OMIM:309000 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Prominent na... |
OMIM:618652 |
Diastrophic Dysplasia |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Increased bone mineral densi... |
ORPHA:628 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Abnormal sacrum morphology, S... |
ORPHA:2591 |
Lacrimoauriculodentodigital Syndrome |
|
Conductive hearing impairment, Vesicoureteral reflux, Hypoplasia of the lacrimal punctum, Patent ... |
ORPHA:2363 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Microform Holoprosencephaly |
|
Maternal diabetes, Panhypopituitarism, Seizure, Tetralogy of Fallot, Hypothyroidism |
ORPHA:280200 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... |
OMIM:615849 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Glycosuria, ... |
OMIM:268315 |
7Q31 Microdeletion Syndrome |
|
Prominent nose, Enuresis nocturna, Hypoplasia of the semicircular canal, Atrial septal defect, Ch... |
ORPHA:251061 |
Alzheimer Disease 2 |
|
Dementia |
OMIM:104310 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia |
OMIM:618840 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Epicanthus, Alopecia, Supernumerary nipple |
ORPHA:3224 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ptosis, Pulmonary edema, Urinary incontinence, Confusion, Cardiomegaly, Sensorineural hearing imp... |
OMIM:105210 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomega... |
ORPHA:2796 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Hypoalbuminemia, Narrow mouth |
ORPHA:79076 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at... |
OMIM:609541 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Increased T cell count, Subcutaneous nodule, Ventr... |
ORPHA:797 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Tortuous cerebral arteries, Corneal opacity, Postnatal growth retardation, ... |
OMIM:616603 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Abnormal cortical bone morphology, Upslanted palpebral fissure, Unilateral... |
ORPHA:2512 |
Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Sin... |
OMIM:601186 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr... |
ORPHA:29073 |
Primary Erythromelalgia |
|
Recurrent respiratory infections, Erythema, Vasculitis, Leukemia |
ORPHA:90026 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Cutaneous Small Vessel Vasculitis |
|
Skin rash, Recurrent skin infections, Subcutaneous nodule, Erythema, Vasculitis, Papule, Purpura |
ORPHA:889 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Cantu Syndrome |
|
Epicanthus, Bicuspid aortic valve, Ovoid vertebral bodies, Curly eyelashes, Cardiomegaly, Pericar... |
OMIM:239850 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Limitation of joint mobili... |
ORPHA:69126 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Apnea, Hepatomegaly, Hypospadias, Respiratory insufficiency, Ptos... |
OMIM:252010 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Increased bone mineral density, Proteinuria, Abnormal h... |
ORPHA:77261 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... |
OMIM:612387 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials, Long eyelashes, Abnormality of... |
OMIM:617523 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria |
OMIM:616026 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... |
ORPHA:320401 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Skin rash, Jaundice, Skin ulcer, Respiratory insufficie... |
ORPHA:779 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmunity, Recurrent re... |
ORPHA:760 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Anterior pituitary hypoplasia, Tonic seizure, Pituitary hypothyro... |
OMIM:619983 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Frontorhiny |
|
Pericallosal lipoma, Hypopituitarism, Diabetes insipidus, Camptodactyly of finger |
ORPHA:391474 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Epicanthus, Ventricular septal defect, Epidermoid cyst, Craniosynostosis, B... |
OMIM:614114 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, P... |
ORPHA:394 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Cranial nerve compression, Leukopenia, Hypoca... |
ORPHA:2785 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Recurrent fractures, Abnormal circulating calcium concentration, Delayed... |
OMIM:241530 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas physiolog... |
ORPHA:93111 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair |
OMIM:605676 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Decreased response to growth hormone stimulation test |
OMIM:245590 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Seizure, Hyperactive renin-ang... |
OMIM:241200 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Cataract, Pigmentary reti... |
ORPHA:88628 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear ... |
OMIM:617718 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Bilate... |
OMIM:619234 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test |
ORPHA:436174 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Optic atrophy,... |
ORPHA:95433 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Skin ulcer, Acral ulceration, Abno... |
ORPHA:139578 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chorioretinal dysplasia, Abnormal eyelid morphology, Subcutaneous nodule, Protruding ear, Abnorma... |
ORPHA:2526 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Spastic/hyperactive bladder, Mental deterioration, Depression, Weight loss, Dementia... |
ORPHA:411602 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Psychomotor deterioration, Hyperactivity, Increased circulating lactate dehyd... |
ORPHA:35069 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity, Camptodactyly of finger |
ORPHA:2741 |
Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Abnormal dental enamel morphology, Postnatal g... |
ORPHA:2323 |
Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Cholangitis, Short neck, Renal cyst, Atrial septal defect, Patent foramen oval... |
OMIM:613610 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr... |
OMIM:600649 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Hyperbilirubinemia, Steatorrhea |
OMIM:557000 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating total IgM, Neutropenia, Decreased circula... |
ORPHA:2643 |
Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Aplasia/Hypoplasia of the skin... |
ORPHA:35107 |
Spermatogenic Failure 14 |
|
Abnormal prolactin level, Abnormal circulating testosterone concentration, Elevated circulating f... |
OMIM:615842 |
Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Hypo... |
ORPHA:64744 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibro... |
ORPHA:84064 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Angina pectoris, Hypoglycemia, Cachexia, Anteverted nares, Subcutaneous nodule, Telang... |
ORPHA:109 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Pyo... |
OMIM:150550 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria |
OMIM:619649 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Seizure, Dementia, Cherry red spot of th... |
OMIM:272800 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Diffuse cerebral atrophy, Severe B lymphocytopenia, Biliary hyperplasia, Ch... |
ORPHA:83617 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Pallor, Nephrotic range ... |
ORPHA:544482 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-... |
OMIM:619774 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Recurrent otitis media, Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Fumarase Deficiency |
|
High palate, Hyperbilirubinemia |
OMIM:606812 |
Papillorenal Syndrome |
|
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... |
OMIM:120330 |
Cardiofaciocutaneous Syndrome 4 |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Hyperhidrosis |
OMIM:615280 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Progressive neurologic deterioration, Cardiomegaly, Hepatomegaly, An... |
OMIM:608013 |
Trisomy 10P |
|
Abnormality of the ear, Hemivertebrae, EEG with focal spikes, Absent gallbladder, Anteverted nare... |
ORPHA:171929 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly,... |
OMIM:612301 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Corneal opacity, Camptod... |
OMIM:607015 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... |
ORPHA:99725 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Inguinal hernia, Anorexia, Leukocytosis, Hyperhidrosis, Recur... |
ORPHA:51890 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair |
OMIM:607626 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Caffey Disease |
|
Respiratory insufficiency, Periosteal thickening of long tubular bones, Cortical thickening of lo... |
ORPHA:1310 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Inguinal hernia, Decreased response to growth hormone stimulation test, Supernumerary nipple, Pat... |
OMIM:213980 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Corneal opacity, Cataract, Ocular albinism, Choroidere... |
ORPHA:2719 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Postnatal growth retardation, Inguinal hernia, Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Skin ulcer, Hyperphosphatemia, Ectopic ossification, Arterial cal... |
ORPHA:280062 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Hype... |
ORPHA:320406 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia |
OMIM:618160 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Micrognathia, Conjugated hyperbilirubinemia, Recurrent hypo... |
OMIM:620305 |
Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy, Ptosis |
OMIM:256000 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Hearing impairment, Increased circulating IgA level, Abdominal adhesions, Low-... |
OMIM:616395 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Retinal degeneration |
OMIM:272200 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Recurrent urinary tract infections, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... |
OMIM:201475 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Osteopenia, Pancytopenia, Portal hypertension, Retinal telangiectasi... |
OMIM:617341 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Anosmia, Osteoporosis |
OMIM:615270 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Cranial nerve compression, Pallor, Positive regitine blocking test, Con... |
ORPHA:29072 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Generalized-onset seizure, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Generalized-onset seizure, ... |
ORPHA:363958 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin... |
OMIM:264700 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Ptosis, Highly arched eyebrow, Synophrys, Anosmia, Blepharophimosis, Thick eyebrow, Abnormal cran... |
ORPHA:2057 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Hypothyroidism, Ataxi... |
ORPHA:268261 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Low-set ears, Abnormality of the sense of smell |
ORPHA:2189 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Inguinal hernia, Corneal opacity, Congestive heart failure, Opt... |
ORPHA:579 |
Shigellosis |
|
Anorexia, Abnormal blood ion concentration, Uveitis, Hypovolemic shock, Conjunctivitis, Acute col... |
ORPHA:810 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Atrial septal defect, Telecanthus, Camptodactyly of finger, Blepharophimosis... |
ORPHA:896 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Stroke-like episode |
ORPHA:282166 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:177735 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, ... |
OMIM:620366 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Cardiomegaly, Cong... |
OMIM:614473 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Hypoglycemia, Atrial fibrillation, C... |
ORPHA:137675 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... |
ORPHA:2041 |
17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Aggressive behavior, Patent ductus arterio... |
ORPHA:529962 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Multiple prenatal fractures, Mul... |
OMIM:619795 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Elevated circulating l... |
ORPHA:289548 |
Pyle Disease |
|
Reduced bone mineral density, Platyspondyly, Scoliosis, Limited elbow extension, Thin bony cortex |
OMIM:265900 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Atrophic scars, Conjunctivitis, Nail dystrophy, Nail dysplasia, Milia |
OMIM:226600 |
Grant Syndrome |
|
Depressed nasal bridge, Decreased skull ossification, Joint hyperflexibility, Skin dimple over ap... |
ORPHA:2097 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... |
ORPHA:206443 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Corneal opacity |
OMIM:618961 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Sparse eyebrow, Fine hair, Ups... |
OMIM:613451 |
Usher Syndrome Type 1 |
|
Sensorineural hearing impairment, Depression, Abnormal cochlea morphology, Subcortical cerebral a... |
ORPHA:231169 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Seizure, Depression |
OMIM:620114 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormal eyelash morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Hypothyroidism, Decreased response to growth hormone stimulation test, Ne... |
OMIM:609053 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ... |
OMIM:619051 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Corneal opacity, Congenital diaphragmatic hernia, Developmental glaucoma, Coarct... |
ORPHA:2409 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c... |
OMIM:239100 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal |
OMIM:607842 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... |
OMIM:601455 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Left aortic arch with right descending aorta and right ductus arteriosu... |
ORPHA:1600 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Alopecia universalis |
OMIM:619208 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal lymphocytic tubulitis, Choroidal neovascularization, Elevated circulatin... |
ORPHA:91500 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Cleft palate, Short philtrum, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Igg4-Related Pachymeningitis |
|
Abnormality of the cervical spine, Low back pain, Sinusitis, Eosinophilia, Elevated circulating C... |
ORPHA:449427 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Nevus psiloliparus, Eyelid coloboma, Limbal dermoid, Peripheral pulmonary artery stenosis |
OMIM:613001 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Dysplastic erythropoesis, Increased circulating ferritin concentration, Reticulocytopenia, Anisop... |
ORPHA:300298 |
Norrie Disease |
|
Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... |
ORPHA:649 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma |
ORPHA:2510 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Flexion contracture, Telangiectases of the cheeks, Joint laxity, Pulmo... |
OMIM:208050 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis |
OMIM:614594 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Eunuchoid habitus, Wide nose, Cardiomegaly, Synophrys, Abnormality of the palpebral f... |
ORPHA:2463 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical b... |
ORPHA:970 |
Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:147250 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia, Decreased nerve conduction velocity... |
ORPHA:1933 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation,... |
ORPHA:1120 |
Mend Syndrome |
|
Telecanthus, Sacral dimple, Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked poten... |
ORPHA:401973 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Agitat... |
OMIM:618056 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes... |
OMIM:180300 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestation... |
ORPHA:221008 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Upslanted palpebral fissure, Abnormality of retinal pigmentation, Epicanthus, Short palpebral fis... |
ORPHA:2163 |
Senior-Loken Syndrome 9 |
|
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy |
OMIM:616629 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Abnormal thalamic MRI signal intens... |
ORPHA:309155 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Ureteral duplication, Hypoplasia of penis, Short neck, Vertebral segmentatio... |
ORPHA:373 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Frontalis muscle weakness, Synophrys, Anosmia, Wide nasal bridge, Blepharophimosis, Thick eyebrow... |
OMIM:210745 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:617713 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... |
ORPHA:168558 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Choroidal neovascularization |
ORPHA:404451 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Cardiomegaly, Short neck, Atrial septal defect, Prominent anti... |
OMIM:245600 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, A... |
OMIM:620135 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Increased bone mineral density, Epicanthus, Anteverted nares, Ovoid vertebral... |
ORPHA:163649 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse eyelashes, Eczema, Skin rash, Ectopic kidney, Sparse eye... |
ORPHA:634 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Micrognathia, Conjugated hyperbilirubinemia, Elevated circulating phytanic acid concentration, Cl... |
OMIM:614866 |
Proteus Syndrome |
|
Pulmonary embolism, Neoplasm of the thymus, Subcutaneous nodule, Abnormal lung lobation, Renal cy... |
ORPHA:744 |
Reynolds Syndrome |
|
Calcinosis, Lip telangiectasia, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Corneal opacity, Elevated circulating creatine kinase concentra... |
OMIM:175780 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Kawasaki Disease |
|
Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyngitis, Leukocytosis, Vasculitis, H... |
ORPHA:2331 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Abnormality of inf... |
ORPHA:449563 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus, Abnormality of the verte... |
OMIM:602475 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Generalized joint laxit... |
ORPHA:508498 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
Hurler Syndrome |
|
Recurrent respiratory infections, Angina pectoris, Camptodactyly of finger, Corneal opacity, Abno... |
ORPHA:93473 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Biliary hyperplasia, Pancreatic cysts, Hyperspl... |
ORPHA:731 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Cerebral arteriovenous malformation, Sclerocornea, Lens colobom... |
ORPHA:42775 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Short neck, Limitation of joint mobility,... |
ORPHA:1486 |
Gapo Syndrome |
|
Prominent scalp veins, Alopecia, Epicanthus, Sparse eyelashes, Epidermoid cyst, Sparse eyebrow, R... |
OMIM:230740 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormal eyelid morphology, Abnorma... |
ORPHA:193 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Large... |
OMIM:600501 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplasia/Hypoplasia of the skin, Tela... |
ORPHA:2909 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Pigmentary retinopathy, Cardiomyopathy, Mitral... |
ORPHA:746 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the cervical spine, Thin bony cortex, Diabetes mellitus, Hypercalcemia, Osteomalac... |
ORPHA:249 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Short neck, Renal cyst, Choanal stenosis, Shallow orbits, Hepatoblastoma, M... |
ORPHA:798 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Congestive heart failure, Flex... |
OMIM:309900 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia |
OMIM:602522 |
Moebius Syndrome |
|
Epicanthus, Facial palsy, Hearing impairment, Abnormality of the sense of smell, Dysphagia, Multi... |
ORPHA:570 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Corneal opacity, Grayish enamel, Recurrent upper respiratory tract infections, M... |
OMIM:253010 |
Weill-Marchesani Syndrome 2 |
|
Striae distensae, Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Joint ... |
OMIM:608328 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Posteriorly ... |
OMIM:617237 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Telecanthus, Joint stiffness, Synophrys, Anosmia, Hypopigmented skin patches... |
ORPHA:1295 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Marfan Syndrome |
|
Osteopenia, Limited elbow movement, Emphysema, Osteoporosis, Dilatation of an abdominal artery, A... |
ORPHA:558 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic... |
OMIM:616084 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Prominent nose, Flexion contracture, Aortic isthmus hypoplasia, Hepatic hem... |
OMIM:180849 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Lipoatrophy, Corneal opacity, Hypermyelinated retinal nerve fibers, ... |
OMIM:601812 |
Bartsocas-Papas Syndrome 1 |
|
Skin tags, Absent eyebrow, Alopecia, Sparse scalp hair, Ablepharon, Alopecia totalis, Cicatricial... |
OMIM:263650 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Skin tags, Thoracic scoliosis, Short neck, Bilateral renal hypoplasia, Naev... |
ORPHA:508488 |
Distal Deletion 13Q |
|
Optic atrophy, Primary adrenal insufficiency, Cognitive impairment |
ORPHA:1590 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H... |
OMIM:308300 |
Nephronophthisis 11 |
|
Anisocoria, Retinal degeneration |
OMIM:613550 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Hepatomegaly, Increased bone mineral density, Reticulocytosis, Facial palsy, R... |
OMIM:611490 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Joint contracture of the 5th finger, Atrial septal defect, Low-set, poster... |
ORPHA:363611 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Cataract, Congenital diaphragmatic hernia, Sclerocornea, Junctional ectopic tac... |
OMIM:309801 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Elevated circulat... |
ORPHA:562 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ... |
ORPHA:485 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypothyroidism, Abnormality of the endocrine system, Precocious puberty, Patent ductus arteriosus... |
ORPHA:438213 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Increa... |
OMIM:260920 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of skin ... |
ORPHA:1806 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Depression |
ORPHA:231183 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Albinism, Recurrent viral infections, Decreas... |
OMIM:242840 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Sensorineural hearing impairment, Anosmia |
OMIM:612370 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia |
ORPHA:464370 |
Opitz Gbbb Syndrome |
|
Vertebral segmentation defect, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale,... |
ORPHA:2745 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Increased cir... |
ORPHA:48104 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal dental enamel morphology, Abnormal cardio... |
ORPHA:886 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Epicanthus, Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna mor... |
OMIM:269860 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Corneal scarring, Reticul... |
OMIM:301220 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Cough, Emphysema, Macule, Renal neoplasm, Atelectasis, Lymphadenopathy, R... |
ORPHA:538 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic... |
OMIM:158310 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal toenail morphology, Upslanted palpebral fissure |
ORPHA:1005 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Astigmatism |
ORPHA:1824 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Ankle flexion contr... |
ORPHA:464311 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Prominent nose, Long nose, Kyphosis, Bulbous nose, Depressed nasal ridge, Ab... |
ORPHA:2769 |
Joubert Syndrome 6 |
|
Retinal degeneration, Chorioretinal coloboma |
OMIM:610688 |
Melorheostosis |
|
Increased bone mineral density, Peripheral arteriovenous fistula, Joint stiffness, Atypical scarr... |
ORPHA:2485 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Redundant neck skin, Redundant skin, Protruding ear, Abnormal curvature of the verteb... |
ORPHA:90348 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Silver-Russell Syndrome 1 |
|
Testicular seminoma, Decreased response to growth hormone stimulation test |
OMIM:180860 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hemivertebrae, Protruding ear, Atrial septal defect, Emphysema, Decreas... |
ORPHA:500150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... |
OMIM:253280 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Vertigo, Recurrent pneumonia, Oligosacchariduria, Scoliosis, Cerebral cortical atro... |
ORPHA:3137 |
Noonan Syndrome 2 |
|
Short neck, Atrial septal defect, Atrioventricular canal defect, Sparse eyebrow, Patent ductus ar... |
OMIM:605275 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... |
OMIM:603903 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystrophy, Chorioretinal dy... |
ORPHA:2556 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, ... |
ORPHA:506358 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Broad columella, Low-set, pos... |
ORPHA:2308 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia,... |
ORPHA:2131 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Osteopenia, Micropenis, Anosmia |
OMIM:614837 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Dys... |
ORPHA:319218 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Progressive neurologic deterioration, Short neck, Prominent nose, Delayed epiphyseal ossification... |
OMIM:210710 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Facial palsy, Hypercapnia, Elevated circula... |
OMIM:164310 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Chronic Granulomatous Disease |
|
Macule, Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Hypermelanotic ... |
ORPHA:379 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Insulin resistance, Elevated urinar... |
ORPHA:230 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Camptodactyly of finger, Hypothyroidism, Patent ductus arteriosus, Cryptorc... |
ORPHA:1606 |
Erythema Elevatum Diutinum |
|
Skin rash, Skin nodule, Increased circulating antibody level, Vasculitis in the skin, Skin vesicle |
ORPHA:90000 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia |
OMIM:617443 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Igg4-Related Submandibular Gland Disease |
|
Autoimmunity, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... |
ORPHA:449432 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:600081 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Pallor, ... |
ORPHA:124 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Hypop... |
OMIM:618913 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem... |
OMIM:619525 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Absent eyelashes, Spar... |
OMIM:268400 |
Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Impulsivity, Depression, Frontal lobe dementia, Dementia, Ag... |
ORPHA:2828 |
Trichinellosis |
|
Skin rash, Facial palsy, Confusion, Vertigo, Increased circulating IgE level, Retinal hemorrhage,... |
ORPHA:863 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Generalized amyloid deposition, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Netherton Syndrome |
|
Recurrent respiratory infections, Failure to thrive, Recurrent skin infections, Allergic rhinitis... |
OMIM:256500 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Urinary incontinence, Anosmia, Painless fractures due to injury, Abnormal autonomic nervous syste... |
OMIM:243000 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration |
ORPHA:53035 |
Whim Syndrome |
|
Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenit... |
ORPHA:51636 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia |
ORPHA:319552 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Epicanthus, Telecanthus, Posteriorly rotated ears, EEG with burst suppression, Patent ductus arte... |
OMIM:617260 |
Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Alopecia, Hypoproteinemia, Abnormal hair pattern |
ORPHA:2315 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... |
ORPHA:2357 |
Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
Peroxisome Biogenesis Disorder 2B |
|
Seizure, Elevated circulating long chain fatty acid concentration, Adrenal insufficiency |
OMIM:202370 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
Bohring-Opitz Syndrome |
|
Apnea, Cardiomegaly, Synophrys, Naevus flammeus of the eyelid, Congenital contracture, Low-set, p... |
ORPHA:97297 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ... |
ORPHA:289157 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Hyperlordosis, Overweight, Generalized osteoscleros... |
ORPHA:763 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Aminoaciduria, Recur... |
OMIM:124000 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Inguinal hernia, Corneal opacity, Arteriovenous malformation, U... |
ORPHA:584 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss... |
OMIM:300009 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Shoulder dimple, Small for gestational age, Insulin resistance, Horseshoe kidney, Ab... |
ORPHA:96182 |
Encephalitis Lethargica |
|
Stiff neck, Urinary incontinence, Autoimmunity, Increased circulating antibody level, Bradycardia... |
ORPHA:83600 |
Hereditary Acrokeratotic Poikiloderma |
|
Ectropion, Telangiectasia of the skin, Eczema, Hearing impairment, Abnormal preputium morphology,... |
ORPHA:2907 |
Primary Hyperoxaluria |
|
Choroidal neovascularization, Calcium oxalate nephrolithiasis, Heart block, Generalized osteoscle... |
ORPHA:416 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma... |
ORPHA:70591 |
Plague |
|
Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Acute infectious pneumonia, Inflammat... |
ORPHA:707 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Subcortical dementia, Vascular granular osmiophilic material deposition, La... |
OMIM:125310 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Recurrent p... |
OMIM:614098 |
Renal Hypoplasia |
|
Recurrent urinary tract infections, Polydipsia |
ORPHA:93101 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Optic atrophy, Co... |
OMIM:101800 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Conductive hearing impairme... |
ORPHA:90646 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, Protruding ear, Conduc... |
ORPHA:2322 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... |
OMIM:614856 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Abnormal cardi... |
ORPHA:284979 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Multiple cafe-au-lait spots, Patchy alopecia |
ORPHA:85279 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Macrotia, Kyphoscoliosis, Cardiomegaly |
OMIM:300886 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating cortisol level, Intracranial hemorrhage, Hypokalemia, Hirsutism, ... |
ORPHA:90795 |
Melioidosis |
|
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... |
ORPHA:31202 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, J... |
ORPHA:392 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... |
OMIM:115197 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Renal hyp... |
ORPHA:289176 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c... |
ORPHA:911 |
Senior-Loken Syndrome 8 |
|
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy, Vascular dilatation |
OMIM:616307 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Renal cyst, Reduced bone mineral density, Nephrocalcinosis, Aminoaciduria, Low-mo... |
ORPHA:18 |
Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... |
OMIM:130050 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia |
ORPHA:238459 |
Aromatase Deficiency |
|
Hyperlipidemia |
ORPHA:91 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Cloni... |
OMIM:617281 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Urinary incontinence,... |
ORPHA:101085 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Abnormal tricuspid valve morpholo... |
ORPHA:1507 |
Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... |
ORPHA:185 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
ORPHA:90003 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Unilateral renal agenesis, Anosmia, Hyposmia, Micropenis |
OMIM:308700 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Telecanthus |
OMIM:617102 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Chronic otitis media, Emphysema, Chro... |
OMIM:604571 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia |
ORPHA:464321 |
Myasthenia Gravis |
|
Hemolytic anemia, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency, Seizure,... |
ORPHA:589 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Chronic oral candidiasis, Hyp... |
ORPHA:83471 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Renal agenesis, Aplastic anemia, Short neck, Pa... |
OMIM:300514 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned corners of mouth, ... |
OMIM:620186 |
Cantú Syndrome |
|
Epicanthus, Abnormal heart valve morphology, Ovoid vertebral bodies, Curly eyelashes, Cardiomegal... |
ORPHA:1517 |
X-Linked Intellectual Disability, Nascimento Type |
|
Deep philtrum, Downturned corners of mouth, Wide mouth, Thin vermilion border, Neonatal hyperbili... |
ORPHA:163956 |
Centrifugal Lipodystrophy |
|
Alopecia |
ORPHA:90156 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Concave nasal ridge, Limitation of joint ... |
ORPHA:166277 |
Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Abnormal cardiac septum morphology, Anosmia |
OMIM:274190 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Cataract, Brushfield spots, Patent ductus arteriosus, Pigmentary retinopathy, ... |
OMIM:214100 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, P... |
ORPHA:309271 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:480520 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Skin rash, Vasculitis, Osteoporosis, Increased serum zinc |
OMIM:601979 |
Noonan Syndrome 10 |
|
Epicanthus, Mitral stenosis, Ventricular septal defect, Short neck, Sparse eyebrow, Patent ductus... |
OMIM:616564 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Apnea, Ventricular septal defect, Limited hip extensi... |
OMIM:614653 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality o... |
OMIM:109120 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... |
OMIM:243605 |
Cholera |
|
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Stroke, Hypocalcemia, Asp... |
ORPHA:173 |
Omenn Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:39041 |
Bresek Syndrome |
|
Alopecia |
ORPHA:85284 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Generalized joint laxity, Abnormal aortic arch morphology, Micropenis, Mul... |
ORPHA:1596 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy, Cataract, Sclerocornea, Camptodactyly |
OMIM:614230 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortical bone morphology, An... |
ORPHA:3344 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... |
ORPHA:1652 |
Kufor-Rakeb Syndrome |
|
Aggressive behavior, Anosmia, Dementia, Dysphagia, Hyposmia |
OMIM:606693 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Decreased circulating hepcidin concentration, Diabetes melli... |
ORPHA:101330 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Dermal atrophy, Spar... |
OMIM:127550 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:31112 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification o... |
OMIM:252605 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Vasc... |
ORPHA:342 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Allergic rhinitis, Eczema, Elbow contracture, Asthma, Patent ductus arteriosus, Annular pancreas,... |
OMIM:618162 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Cardiomegaly, Atrial septal defect, Micropenis, Decreased skull ossification... |
ORPHA:3472 |
Myeloma, Multiple |
|
Amyloidosis, Paraproteinemia |
OMIM:254500 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Micropenis, Anosmia, Unilateral renal agenesis |
OMIM:308750 |
Doors Syndrome |
|
Adrenal hyperplasia, Bilateral tonic-clonic seizure, Optic atrophy, Congenital hypothyroidism, Fo... |
ORPHA:79500 |
Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Optic disc pallor, Recurrent urinary tract infections, Cataract, Corneal op... |
ORPHA:309282 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Redundant neck skin, Anterior concavity of thoracic vertebrae, Secundum atrial septal... |
OMIM:249420 |
Wells Syndrome |
|
Skin vesicle, Vasculitis, Eosinophilia |
ORPHA:901 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis, Opacification of the corneal stroma |
OMIM:204850 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Postnatal growth retardation, Flexion contracture, Recurrent upper respiratory t... |
OMIM:253220 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Atrial septal defect, Conductive hearing impairment, Vesicoureteral reflux, Pa... |
OMIM:157800 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Papule, Skin ulcer |
ORPHA:2337 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Inguinal hernia, Multiple joint contractures, Corneal opacity, Optic nerve... |
ORPHA:536471 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Anorexia, Dyspnea, Ocular albinism, ... |
ORPHA:79430 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Myoclonic seizure, Seizure, Dementia, Dystonia |
OMIM:272750 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Polysplenia |
OMIM:617784 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Ptosis, Neonatal respiratory distress, Epicanthus, Redundant neck skin, Mitral atresia, Patent du... |
OMIM:618164 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ... |
OMIM:300554 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Central adrenal insufficiency, Flexion contracture, Decreased response to growth hormone stimulat... |
OMIM:616007 |
Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Decreased nerve conduction velocity, Optic atrophy, Seizure, Gait disturbance, Adrenal in... |
OMIM:614863 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Epileptic spasm, Camptodactyly of finger, Infantile spasms, Aggressive behavio... |
OMIM:607872 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Optic atrophy, Hyperhidrosis, Contractures of the large joints, Sei... |
ORPHA:521426 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent nasal bridge, Kyphosco... |
ORPHA:324410 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
Carpenter Syndrome 1 |
|
Omphalocele, Patent ductus arteriosus, Optic atrophy, Tetralogy of Fallot, Microcornea, Transposi... |
OMIM:201000 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Conjugated hyperbilirubinemia |
ORPHA:168577 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Skin ul... |
ORPHA:1657 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Redundant skin, Cardiomegaly, Large for gestational age, Vesicoureteral ref... |
ORPHA:116 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Patent ductus arter... |
OMIM:620327 |
Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy, Ptosis |
OMIM:612291 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Thymoma, Chronic mucocutaneous candidia... |
OMIM:269200 |
Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebr... |
ORPHA:69085 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Trisomy 18 |
|
Omphalocele, Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Congenital d... |
ORPHA:3380 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Camptodactyly of finger |
ORPHA:1794 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Micropenis, Abnormality of the sense of smell |
OMIM:228300 |
Dyskeratosis Congenita, Digenic |
|
Bilateral ptosis, Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Cutaneous macular amyloidosis, Amyloidosis, Limbal stem cell deficiency, Corneal neovascularization |
OMIM:615225 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Op... |
OMIM:617301 |
Nephronophthisis 4 |
|
Polydipsia, Anemia |
OMIM:606966 |
Woodhouse-Sakati Syndrome |
|
Diabetes mellitus, Prominent nasal bridge, Sensorineural hearing impairment, Hyperlipidemia, Prot... |
OMIM:241080 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Narrow mouth |
OMIM:614748 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Abnormal retinal morphology, Corneal crystals |
OMIM:219750 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Limb joint contracture, Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Raine Syndrome |
|
Mixed hearing impairment, Hydroureter, Posteriorly rotated ears, Abnormal pinna morphology, Incre... |
OMIM:259775 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Stiff neck, Cardiomegaly, Short ... |
OMIM:617022 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Clonic seizure, Seizure, Irritabili... |
OMIM:615574 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Macule, Alopecia, Entropion, Hypermelanotic macule, Hypopigmented sk... |
ORPHA:910 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma |
OMIM:256540 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Depressed nasal bridge, Hearing impairment, Limitation of joint m... |
ORPHA:90650 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Omenn Syndrome |
|
Hypoproteinemia, Pneumonia, Erythroderma |
OMIM:603554 |
Prolactin Deficiency, Isolated |
|
Reduced circulating prolactin concentration |
OMIM:264110 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Upslanted palpebral fissure, Short palpebral fissure |
OMIM:617763 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Atypical scarring of skin, Conjunctivitis, Elevated ... |
OMIM:263700 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Erythema, Enterocolitis, Ulcerative colitis, Decreased propor... |
OMIM:614878 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Hypokalemia, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Slender nose, Aplastic anemia, Small... |
ORPHA:221016 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno... |
ORPHA:793 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuos... |
OMIM:614816 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Pallor, Ne... |
OMIM:105650 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Ataxia, Hypohidrosis, Adrenal insufficiency, Dysphagia |
OMIM:615510 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode... |
OMIM:256600 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy, Glycosuria |
ORPHA:436271 |
Nephronophthisis 1 |
|
Polydipsia, Anemia |
OMIM:256100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent left superior vena cava, Alopecia totalis, Elevated circulating creatine kinase concen... |
OMIM:618775 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Congenital Erythropoietic Porphyria |
|
Erythrodontia, Abnormal circulating porphyrin concentration, Unconjugated hyperbilirubinemia, Inc... |
ORPHA:79277 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Flexion contracture, Status epilepticus, Myoclonus |
OMIM:618201 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Telecanthus, Abnormal pinna morphology, Aganglionic megacolon, Sho... |
ORPHA:3338 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Hepatomegaly, Joint laxity, Multiple joint contractures, Posteriorly rotated ... |
OMIM:618143 |
Acute Liver Failure |
|
Ataxia, Confusion, Hyperammonemia, Depression, Intracranial hemorrhage, Seizure, Euphoria, Agitat... |
ORPHA:90062 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Elevated circulatin... |
OMIM:223900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Microvesicular hepatic steatosis, Tachypnea, Aortic valve atresia, Increas... |
OMIM:220111 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Recurrent respiratory infections, Pulmonary insufficiency, Retinal... |
OMIM:208500 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Subcutaneous nodule, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contr... |
OMIM:259600 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Recurrent respiratory infections, Recurrent urinary tract infect... |
ORPHA:1334 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Redundant skin, Multiple bladder diverticula, Abnormal systemic arterial morphology, Vesicoureter... |
ORPHA:90349 |
Degcags Syndrome |
|
Micrognathia, Protruding tongue, Wide mouth, High palate, Thick vermilion border, Hyperbilirubine... |
OMIM:619488 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Hyperleucinemia, Hyperammonemia, Acute hyperammonemia |
OMIM:210210 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Corneal opacity, Patent duc... |
ORPHA:464306 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal dental enamel morphology, Xerosto... |
ORPHA:1896 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Cardiomegaly, Congestive heart failure, Vertigo, Optic atrophy, Depression, C... |
OMIM:619259 |
Knobloch Syndrome |
|
Retinal detachment, Epicanthus, Patent ductus arteriosus, Abnormal vitreous humor morphology, Mac... |
ORPHA:1571 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ... |
ORPHA:71273 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ... |
ORPHA:1782 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Failure to thrive, Choanal atresia, Absent eyelashes, Patent ductus arterios... |
ORPHA:861 |
Biotinidase Deficiency |
|
Alopecia, Conjunctivitis, Hyperammonemia |
OMIM:253260 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227982 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Pigmentary retinopathy, Downslanted palpebral fissures |
ORPHA:110 |
African Trypanosomiasis |
|
Papilledema, Akinesia, Aggressive behavior, Abnormality of the endocrine system, Tremor, Splenome... |
ORPHA:3385 |
Kabuki Syndrome 1 |
|
Protruding ear, Atrial septal defect, Micropenis, Recurrent aspiration pneumonia, Abnormal verteb... |
OMIM:147920 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Increased bone mineral density, Aplasia/Hypoplasia of the skin, Hyposp... |
ORPHA:2658 |
Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
Hyperekplexia 1 |
|
Exaggerated startle response, Inguinal hernia, Seizure, Myoclonus, Umbilical hernia, Nocturnal se... |
OMIM:149400 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Short neck, Atrial septal defect, Juvenile myelomonocytic leuke... |
OMIM:163950 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Optic atrophy |
ORPHA:192 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc... |
OMIM:275350 |
Hallermann-Streiff Syndrome |
|
Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Dermal atro... |
ORPHA:2108 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Increased circulating IgE level, Otitis externa, Perioral erythema, E... |
OMIM:614328 |
Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol... |
ORPHA:2059 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:603467 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... |
OMIM:619476 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
Peeling Skin Syndrome 1 |
|
Eosinophilia, Asthma, Increased circulating IgE level, Scaling skin, Erythroderma |
OMIM:270300 |
Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:273395 |
Secondary Non-Traumatic Avascular Necrosis |
|
Abnormality of connective tissue, Addictive alcohol use, Difficulty walking |
ORPHA:399180 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Corneal scarring, Buphth... |
OMIM:618460 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Hypertrophic cardiomyopathy, Optic atrophy, Glycosuria |
OMIM:220110 |
Arima Syndrome |
|
Polydipsia, Optic atrophy, Ataxia, Anemia |
OMIM:243910 |
Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
Colchicine Poisoning |
|
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... |
ORPHA:31824 |
Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Dilation of Virchow-Robin spaces, Flexion contracture, Hypsarrhythmia, Irritability, Agitation, S... |
ORPHA:2148 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Limited elbow movement, Cardiom... |
ORPHA:268 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Limi... |
ORPHA:79106 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness, Decreased nerve ... |
ORPHA:600 |
Hydrolethalus Syndrome 1 |
|
Omphalocele, Accessory spleen, Adrenal gland dysgenesis |
OMIM:236680 |
Fucosidosis |
|
Lipoatrophy, Corneal opacity |
ORPHA:349 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... |
ORPHA:2968 |
Myhre Syndrome |
|
Short neck, Atrial septal defect, Vertebral fusion, Pericardial effusion, Patent ductus arteriosu... |
OMIM:139210 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Increased bone mineral density, Abnormal heart valve morphology, Hypospadias, ... |
ORPHA:90652 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Laterally extended eyebrow, Synophrys, Keratoconjunctivitis sicca, Long eyelashes, Retinal degene... |
OMIM:618479 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Epicanthus, Telecanthus, Lip pit, Coarse hair, Sparse hair, Downslanted p... |
ORPHA:2750 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Osteopenia, Mixed hearing impairment, Tricuspid ... |
OMIM:614557 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... |
OMIM:203700 |
Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Decreased pyruvate carb... |
OMIM:229300 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hyposmia, Micropenis, Anosmia |
OMIM:614897 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Adrenal insufficiency, Increased circulating... |
ORPHA:427 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
Opitz Gbbb Syndrome |
|
Telecanthus, Abnormal nasopharynx morphology, Hypospadias, Ventricular septal defect, Posteriorly... |
OMIM:300000 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:614841 |
Pmm2-Cdg |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Prominent nose, Intracranial hemor... |
ORPHA:79318 |
Halperin-Birk Syndrome |
|
Flexion contracture, Optic atrophy, Pseudobulbar paralysis, Perimembranous ventricular septal def... |
OMIM:618651 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Atrial septal defect, Axial malrotation of the kidney, Vesicoureteral reflu... |
OMIM:274000 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Micropenis, Anosmia |
OMIM:618841 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... |
ORPHA:206448 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Increased blood urea nitrog... |
OMIM:223360 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus, Hiatus hernia |
OMIM:614618 |
Nocardiosis |
|
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... |
ORPHA:31204 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,... |
ORPHA:447 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Optic disc coloboma, Opti... |
ORPHA:50 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Optic nerve... |
OMIM:610829 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair |
OMIM:613990 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Elbow flexion contracture |
OMIM:226960 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia, Sensorineural hearing impairment, Recurrent skin infections |
OMIM:616488 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia |
OMIM:253270 |
Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Cataract, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Osteopenia, Thin bony cortex, Thoracic scoliosis, Joint laxity, Generalized... |
OMIM:613848 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Bronchitis, Pneumonia, Keratitis, Lymphadenitis,... |
ORPHA:2552 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunc... |
ORPHA:95455 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Dysgammaglobulinemia, Retinal pi... |
OMIM:251260 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Atrophy/Degeneration affecting the centra... |
ORPHA:228360 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Short neck, Prominent nose, Synophrys, Protruding ear, Atrial septal defec... |
OMIM:612474 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Leprosy |
|
Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes... |
ORPHA:548 |
Adrenomyodystrophy |
|
Seizure, Primary adrenal insufficiency |
ORPHA:977 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Retinal degeneration |
ORPHA:2822 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure |
ORPHA:163985 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Cogan Syndrome |
|
Aortic regurgitation, Abnormal vestibular function, Episcleritis, Keratitis, Sensorineural hearin... |
ORPHA:1467 |
Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Epicanthus, Telecanthus, Sparse hair, Downslanted palpebral fissures, Milia, ... |
OMIM:311200 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven... |
OMIM:618052 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Neonatal hypoglycemia, Cardiomegaly, Pericard... |
OMIM:261740 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Micropenis, Anosmia |
OMIM:616030 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hyperpigmented nevi, Alopecia, Low posterior hairline |
ORPHA:2959 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Osteomyelitis, Sensorineural heari... |
OMIM:162400 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
Cranio-Osteoarthropathy |
|
Eczema, Joint stiffness, Osteoarthritis, Arthritis, Abnormal cortical bone morphology |
ORPHA:1525 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Sensorineural hearing impairment, Hemivertebrae, Scoliosis, Dysphagia, Aspiration, ... |
OMIM:614688 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Macrotia, Cardiomegaly |
OMIM:613576 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Ves... |
ORPHA:261552 |
Carney Triad |
|
Anorexia, Anemia, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal overactivity |
ORPHA:139411 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Patch... |
OMIM:302960 |
Adult Polyglucosan Body Disease |
|
Neurogenic bladder, Urinary incontinence, Limitation of joint mobility, Skin ulcer, Dementia, Uri... |
ORPHA:206583 |
Ruvalcaba Syndrome |
|
Kyphosis, Hypopigmented skin patches, Abnormal localization of kidney, Hematuria, Synostosis of c... |
ORPHA:3121 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Lacrimal duct stenosis, Cardiomegaly, Protruding ear, Depression, EEG ... |
OMIM:618798 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Abnorm... |
ORPHA:428 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Ves... |
ORPHA:261537 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Chronic infection, Thrombocytopenia, Leukocytosis, Leukopenia, Addictive ... |
ORPHA:520 |
Distal Deletion 19P |
|
Keloids, Alopecia, Thick eyebrow |
ORPHA:96129 |
Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Tricuspid regurgitation, Corneal opacity, Flexion contracture, Recurrent upper r... |
OMIM:253200 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... |
ORPHA:90186 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase... |
OMIM:243800 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Cerebellar atrophy, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Gl... |
OMIM:620306 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Attenuated Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Ocular albinism, Epistaxis, Skin ulcer |
ORPHA:352723 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Abnormal pinna morphology, Recurrent fractures, Kyphosco... |
OMIM:309583 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Epicanthus, Sacral dimple, Curly eyelashes, Naevus flammeus of the eyelid, Upslanted pa... |
ORPHA:3107 |
Cystic Fibrosis |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... |
OMIM:219700 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Wrist flexion contracture, Sclerocornea, Corneal opacity |
OMIM:609465 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Hyperpigmented streaks, Chorioretinal atroph... |
OMIM:600268 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypospadias, Joint hypermobility, Kyphosis, Osteoporosis, Anosmia, Scoliosis, Micrope... |
OMIM:619718 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Hypocalcemia, Steatorrhea |
OMIM:212750 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Flexion contracture, Cough, Skin vesicle, Bronchiectasis, Intermittent gener... |
ORPHA:99921 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... |
OMIM:242700 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Say-Barber-Miller Syndrome |
|
Decreased circulating IgG level, Elbow flexion contracture, Optic atrophy, Transient hypogammaglo... |
ORPHA:3132 |
Meckel Syndrome, Type 1 |
|
Short neck, Asplenia, Accessory spleen, Malformation of the hepatic ductal plate, Patent ductus a... |
OMIM:249000 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Adrenocorticotropic hormone excess, Ovarian neoplasm, Intestinal carcinoid, Increased s... |
ORPHA:100079 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... |
ORPHA:139402 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Allergic rhinitis, Abnormal eyelash morphology, Increased circulatin... |
ORPHA:90368 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ... |
ORPHA:1969 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Intestinal bleeding |
ORPHA:424019 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, P... |
ORPHA:309263 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Calcification of the auricular cartilage, Hearing impairmen... |
OMIM:245150 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Hernia, Grayish enamel |
ORPHA:582 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Ethylene Glycol Poisoning |
|
Ataxia, Confusion, Facial palsy, Hyperkalemia, Euphoria, Seizure, Addictive alcohol use, Hypocalc... |
ORPHA:31826 |
Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Hypopigmented skin patches, Arthrogryposis multiplex co... |
ORPHA:96061 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Meier-Gorlin Syndrome 6 |
|
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... |
OMIM:616835 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis lead... |
OMIM:256810 |
Mosaic Trisomy 16 |
|
Abnormal ear morphology, Hypospadias, Ventricular septal defect, Maternal diabetes, Small for ges... |
ORPHA:1708 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cyanos... |
ORPHA:555874 |
Amyloidosis, Familial Visceral |
|
Hypertension, Generalized amyloid deposition |
OMIM:105200 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Tonic seizure, Seizure, Irritability, Dysphagia, Atonic seizure, Fo... |
OMIM:618367 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Reduced vital capacity, Decreased distal sensory nerve action potential, Kyphoscoliosis, Sensorin... |
ORPHA:99956 |
Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, EEG abnormal... |
ORPHA:480898 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,... |
ORPHA:86884 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Joint stiffness, Patent ... |
OMIM:277600 |
Cysticercosis |
|
Retinal detachment, Abnormal optic chiasm morphology, Stiff neck, Confusion, Iridocyclitis, Emoti... |
ORPHA:1560 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Type I diabetes mellitus, ... |
OMIM:620365 |
Rett Syndrome, Congenital Variant |
|
Depressed nasal bridge, Kyphosis, Bulbous nose, Tongue thrusting, Protruding ear, EEG abnormality... |
OMIM:613454 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Abnormal pinna morphology, Depressed nasal bridge, Arterial tortuosity, Bulbous nose, Emphysema, ... |
OMIM:614437 |
Cystic Fibrosis |
|
Osteopenia, Sinusitis, Reduced forced expiratory volume in one second, Abnormality of the liver, ... |
ORPHA:586 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Scol... |
OMIM:616875 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Con... |
ORPHA:2152 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Gorlin-Chaudhry-Moss Syndrome |
|
Umbilical hernia, Patent ductus arteriosus, Astigmatism, Sclerocornea |
ORPHA:2095 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Coarctation of aorta, Bifid thoracic vertebrae, Eyelid... |
ORPHA:268249 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Asthma, Erythema, Scaling skin, Brain atrophy, Abnormality of visual evoked potentials, Joint con... |
OMIM:614457 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Situs inversus tota... |
ORPHA:991 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Hypospadias, Atelectasis, Glandular hypospadias, Micropenis, Penile hypospa... |
OMIM:300219 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... |
ORPHA:439 |
Marfan Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Emphysema, Tricuspid regurgitation, Ascending tubular... |
OMIM:154700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Flexion contrac... |
OMIM:253800 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Beemer-Ertbruggen Syndrome |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Bulbous nose, Wide nasal bridg... |
ORPHA:1237 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral candidia... |
OMIM:616433 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Epidermal nevus, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Small nail, ... |
OMIM:308050 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
Floating-Harbor Syndrome |
|
Short neck, Long nose, Renal cyst, Nephrocalcinosis, Compulsive behaviors, Conductive hearing imp... |
ORPHA:2044 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... |
OMIM:613795 |
Atrial Septal Defect, Coronary Sinus Type |
|
Transient ischemic attack, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous... |
ORPHA:99104 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Cranial nerve compression, Diaphyseal sclerosis, Cortical thicken... |
OMIM:131300 |
Peters Plus Syndrome |
|
Inguinal hernia, Cataract, Corneal opacity, Postnatal growth retardation, Patent ductus arteriosu... |
ORPHA:709 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Optic nerve hypoplasia, A... |
OMIM:620025 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Abnorm... |
OMIM:186580 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Cerebellar atrophy, Eleva... |
OMIM:606002 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... |
ORPHA:85188 |
Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated ... |
OMIM:171300 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Epicanthus, Bicuspid aortic valve, Posteriorly rotated ears, Small for gestational age, Aggressiv... |
OMIM:613355 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration, Osteomyelitis, Urinary incontinence, Osteolytic defects of the phalanges of the... |
OMIM:613115 |
Hyperekplexia 2 |
|
Exaggerated startle response, Myoclonus, Hiatus hernia |
OMIM:614619 |
Biotinidase Deficiency |
|
Alopecia, Conjunctivitis, Hyperammonemia |
ORPHA:79241 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Aniridia, Camptodactyly of toe, Iris coloboma |
ORPHA:251038 |
Mepan Syndrome |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Dysphagia, Abnormality of visual evoked pote... |
ORPHA:508093 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Conjunctival hamartoma, Skin ulcer, Erythroderma |
ORPHA:312 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Telecanthus, Melanocytic nevus |
ORPHA:2612 |
Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Hypospadias, Absent tragus, Choanal atresia, Synophrys, Lacrimal duct ... |
OMIM:603457 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Corneal ulceration, Recurrent corneal erosions, Opacification of the... |
OMIM:256800 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Corneal opacity, Camptodactyly of finger |
ORPHA:99776 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Cataract, Retinal pigment epithelial mottling, Dilated cardiomyopathy, Mitral regurgitation, Mild... |
OMIM:607459 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity |
ORPHA:93474 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Optic atrophy, Blepharospasm, Pigmentary retinopathy, Retinal degeneration, Hyper... |
OMIM:234200 |
Spondyloocular Syndrome |
|
Osteopenia, Retinal detachment, Posteriorly rotated ears, Sensorineural hearing impairment, Mitra... |
OMIM:605822 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation, Cataract, Joint contracture of the hand, Congenital finger f... |
ORPHA:466768 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Seizure, Abnormal odontoid tissue morphology, D... |
ORPHA:79255 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Pigmentary reti... |
OMIM:277400 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Abnormal dental enamel morphology, Congenital diaphragmatic h... |
ORPHA:818 |
Congenital Disorder Of Deglycosylation 1 |
|
Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Corneal opacity, Elevated cir... |
OMIM:615273 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... |
OMIM:620066 |
Axial Osteomalacia |
|
Increased bone mineral density, Polycystic liver disease, Osteomalacia, Elevated circulating crea... |
OMIM:109130 |
Aspartylglucosaminuria |
|
Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Joint stiffness, Splenome... |
ORPHA:93 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Bilateral sensorineural... |
ORPHA:309256 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Preauricular pit, Increased bone mineral density, Posteriorly rotated ears, Congenital sensorineu... |
OMIM:617306 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Sclerocornea, Optic atrophy, H... |
ORPHA:280 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Depressed nasal bridge, Broad nasal tip, Thoracolumbar kyphosis... |
OMIM:619777 |
Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... |
ORPHA:2299 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Redundant skin, Cutis laxa, Bladder diverticulum,... |
OMIM:219100 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Patent ductus arteriosus, Optic disc coloboma,... |
ORPHA:141099 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, AA amyloidosis, Hepatic amyloidosis, Conjunctivitis, Conjunctival hy... |
OMIM:142680 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint laxity, Arterial tortuosity... |
ORPHA:284984 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Cardiac conduction abnormality, Low plasma citrulline, Optic atrophy, Dilated cardiomyopathy, Pig... |
ORPHA:255210 |
Holoprosencephaly 7 |
|
Omphalocele, Seizure, Fusion of the left and right thalami, Panhypopituitarism |
OMIM:610828 |
Wrinkly Skin Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Epicanthus, Failure to thrive, Kyphoscoliosis, Br... |
ORPHA:2834 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Osteomyelitis, Skin ulcer |
OMIM:613640 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:93552 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Bradycardia |
OMIM:608800 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Periostitis, Osteomyelitis, Skin ulcer |
ORPHA:2218 |
Pseudo-Torch Syndrome 1 |
|
Umbilical hernia, Patent ductus arteriosus, Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Cry... |
ORPHA:251510 |
Grange Syndrome |
|
Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hypertension, I... |
OMIM:602531 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Blomstrand Lethal Chondrodysplasia |
|
Telecanthus, Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coarctatio... |
ORPHA:50945 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Recurrent respiratory infections, Cataract, Retinal dystrophy, Rod-cone dystrophy, Macular degene... |
OMIM:266920 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Failure to thrive, Abnormal co... |
ORPHA:3427 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Postnatal growth retardation... |
OMIM:206900 |
Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Blepharophimosis, Sparse pubic ha... |
OMIM:181270 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Microcornea, Opacification of the corneal stroma, Umbilical hernia, Anterior cha... |
OMIM:601499 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Dacryocystitis, Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal nasolacrimal system morphology, Abnormal eyel... |
ORPHA:2273 |
Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Depigmented fundus, Abnormal morphology ... |
ORPHA:352731 |
Hartsfield Syndrome |
|
Bilateral tonic-clonic seizure, Cryptorchidism, Gonadotropin deficiency, Hypernatremia, Diabetes ... |
OMIM:615465 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... |
OMIM:619767 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyperkalemi... |
ORPHA:94093 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... |
ORPHA:71505 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Thoracic kyphosis, Thin bony cortex |
OMIM:619638 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Inguinal hernia, Cataract, Enamel hypoplasia |
OMIM:272460 |
Floating-Harbor Syndrome |
|
Short neck, Prominent nose, Glandular hypospadias, Nephrocalcinosis, Conductive hearing impairmen... |
OMIM:136140 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Choanal atresia, Coarctation of aorta, Abnormal aortic mo... |
ORPHA:1923 |
Adams-Oliver Syndrome 1 |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Supernumerary nipple, Pulmonary artery steno... |
OMIM:100300 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Atrophy of the spinal cord, Decrea... |
OMIM:256840 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Polydipsia, Enamel hypomineralization, Bicarbonaturia |
ORPHA:47159 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature adrenarche, Hyponatremia, Hypogonadotropic hypogo... |
ORPHA:90794 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Inguinal hernia, Unilateral cryptorchidism, Decreased response to growth hormone s... |
OMIM:613406 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Iritis, Abnormality of tumor necrosis factor secretion, Enthesitis |
ORPHA:85436 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic mucoc... |
OMIM:116920 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or... |
ORPHA:556 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Hyperpigmented streaks, Ventricular tachyca... |
OMIM:300952 |
Dyggve-Melchior-Clausen Disease |
|
Recurrent upper respiratory tract infections, Corneal opacity |
ORPHA:239 |
Developmental And Epileptic Encephalopathy 38 |
|
Retinal dystrophy, Hypsarrhythmia, Irritability, Aspiration, Attenuation of retinal blood vessels |
OMIM:617020 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Narrow nasal bridge, Ventricular septal defect, Left ventricular noncompaction card... |
OMIM:300967 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Recurrent respiratory infections, Short nose, Cachexia |
ORPHA:1389 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
Bilateral Perisylvian Polymicrogyria |
|
EEG with polyspike wave complexes, EEG with parietal focal spikes, EEG with frontal focal spikes,... |
ORPHA:98889 |
Phakomatosis Pigmentokeratotica |
|
Melanocytic nevus, Linear nevus sebaceous, Patchy alopecia, Hypophosphatemic rickets, Blue nevus,... |
ORPHA:2874 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... |
ORPHA:3337 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Subcutaneous nodule, Mediastinal lymphadenopathy, B... |
ORPHA:158029 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Wide nasal bridge, Long eyelashes, Biconc... |
OMIM:617952 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Urinary incontinence, Hearing impairment, ... |
ORPHA:512 |
Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Macular degeneration, Congestive heart failure, Abnormal fundus morphology |
ORPHA:94147 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia, Dementia |
OMIM:607060 |
O'Sullivan-Mcleod Syndrome |
|
Atrophy of the spinal cord, Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration |
ORPHA:247234 |
Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Ventricular septal defect, Anteverted nares, Optic neuropathy, Increased intervertebr... |
OMIM:619727 |
Mosaic Trisomy 1 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... |
ORPHA:1692 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Perit... |
ORPHA:1546 |
Developmental And Epileptic Encephalopathy 3 |
|
Abnormality of visual evoked potentials, EEG with burst suppression, Brain atrophy, Cerebral atrophy |
OMIM:609304 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Pneumonia |
ORPHA:169090 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Corneal opacity, Camptodactyly of finger, Corneal erosion, Abnormality of skin pigme... |
ORPHA:920 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Urinary incontinence, Depression, Dysphagia, Aspiration, Cerebellar vermis at... |
ORPHA:98760 |
Alzheimer Disease 3 |
|
Dysphagia, Seizure, Dementia, Gait disturbance, Myoclonus, Dystonia, Memory impairment, Optic ataxia |
OMIM:607822 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Grayish enamel, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:253000 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Transient ischemic attack, Pneumonia, Breathing dysregulation, Increased pulmonary vas... |
ORPHA:99103 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Short neck, Patent ductus arteriosus, Upslanted palpebral fissure, Abnormal aortic morphology, Hy... |
ORPHA:2001 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Recurrent upper respiratory tract infections, Hernia |
ORPHA:583 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Osteopenia, Sacral dimple, Flexion contracture of finger, Apnea, Recurrent ... |
ORPHA:3206 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, Flexion contracture,... |
ORPHA:2908 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cafe-au-lait spot, Corneal opacity |
ORPHA:364577 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Inguinal hernia, Hypogonadotropic hypogonadism, Decreased respo... |
OMIM:129900 |
Kenny-Caffey Syndrome, Type 2 |
|
Papilledema, Transient hypophosphatemia, Increased bone mineral density, Small for gestational ag... |
OMIM:127000 |
Thrombocytopenia 1 |
|
Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Immunodeficiency 7 |
|
Patchy alopecia |
OMIM:615387 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Buphthalmos, Keratoconjunctivitis sicca |
ORPHA:495875 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Hepatomegaly, Epicanthus, Depressed nasal bridge, Splenomegaly, Patent duct... |
OMIM:617088 |
Meckel Syndrome |
|
Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Aplasia/Hypoplasia of t... |
ORPHA:564 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Skin erosion, Paronychia, Abnormal blood ion concentration, Skin plaque, Nail dystrophy... |
ORPHA:79404 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Hypothyroidism, Decreased response to growth horm... |
ORPHA:444077 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Aplasia cutis congenita on trunk or limbs, Elevated circulating creatine kinase ... |
ORPHA:158684 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Downslanted palpebral fissure... |
ORPHA:85184 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
Gaucher Disease, Type Ii |
|
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch |
OMIM:230900 |
Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism, Abnormality of... |
OMIM:607932 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Acys Amyloidosis |
|
Amyloidosis, Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Single naris, Anosmia, Absent nares, Hyposmia |
ORPHA:2250 |
Ramon Syndrome |
|
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy, Telangiectasia |
OMIM:266270 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Decreased circulating IgA level |
OMIM:215250 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Sensorineural hearing impairment, Anosmia,... |
OMIM:613266 |
Chops Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia... |
OMIM:616368 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Osteolytic defects of the phalanges of the hand, Foot acroos... |
OMIM:201300 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Cataract, Sclerocornea, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:619869 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Redundant skin, Congestive heart failure, Dyspne... |
OMIM:123700 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Respiratory insufficiency |
ORPHA:2135 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Increased bone mineral density, Hyperlordosis, Short neck, Kyphosis, Abnorma... |
ORPHA:1798 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nevus flammeus, Nephroblastoma, Neonatal hypoglycemia, Cardiomegaly, Hepatoblastoma... |
OMIM:130650 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... |
ORPHA:485421 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestiv... |
OMIM:182250 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Neonatal in... |
ORPHA:96191 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent upper respiratory... |
OMIM:600802 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Alopecia, Hypoplasia of eyelid |
OMIM:619321 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Aspiration pneumonia |
OMIM:616430 |
Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Postnatal growth retardation, Opacification of the corneal stroma |
OMIM:313400 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Aortic root aneur... |
ORPHA:280633 |
Larsen Syndrome |
|
Corneal opacity, Aortic aneurysm |
OMIM:150250 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Absent eyelashes, Atrichia... |
OMIM:308205 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Cryptorchidism, Patent ductus a... |
OMIM:300166 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:604292 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Osteomyelitis, Urinary incontinence, Recurrent fractures, Osteoarthritis, Painless... |
OMIM:608654 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma, Optic nerve dysplasia, Retinal dysplasia, Elevated circulati... |
OMIM:615287 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Amyloidosis, Renal amyloidos... |
OMIM:249100 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress, Increased bone mineral density, Depressed na... |
OMIM:119600 |
Limb Body Wall Complex |
|
Ventral hernia, Corneal opacity, Congenital diaphragmatic hernia, Lens subluxation, Iris coloboma |
ORPHA:2369 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Loss of eyelashes, Thin eyebrow, Sparse hair, Downslanted palpebral fissures |
ORPHA:2636 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Depressed nasal bridge, Cardiomega... |
ORPHA:79280 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arter... |
ORPHA:209959 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Marshall-Smith Syndrome |
|
Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Stridor, Aspiratio... |
OMIM:602535 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Seizure... |
OMIM:619522 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea, Elbow flexion contracture, Knee flexion contracture, Camptodactyly of 2nd-5th finge... |
OMIM:600920 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Amyloidosis, Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Increased circulating an... |
OMIM:114065 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Posterior polar cataract, Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Ring Chromosome 13 Syndrome |
|
Epicanthus, Alopecia, Cafe-au-lait spot |
ORPHA:96176 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Otitis media |
OMIM:122470 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
Neurofibromatosis, Type I |
|
Hypopigmented macule, Hypsarrhythmia, Hypertension, Renal artery stenosis, Scoliosis, Lisch nodul... |
OMIM:162200 |
Sympathetic Ophthalmia |
|
Alopecia, Poliosis |
ORPHA:79098 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cafe-au-lait spot, Corneal opacity |
OMIM:608670 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Ankle flexion contracture, Postnatal growth retardation, Patent ductus... |
OMIM:268300 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Faciocardiomelic Syndrome |
|
Osteopenia, Telecanthus, Anteverted nares, Depressed nasal bridge, Large for gestational age, Cub... |
OMIM:612731 |
Craniofacial Microsomia 1 |
|
Ectopic kidney, Hemivertebrae, Anotia, Conductive hearing impairment, Limbal dermoid, Vesicourete... |
OMIM:164210 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Sparse hair, Nail dystrophy, Alopecia universalis |
ORPHA:158668 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Recurrent upper respiratory tract infections, Tetralogy of Fallot, Aspi... |
ORPHA:1465 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Neurogenic bladder, Low back pain, Hypospadias, Ur... |
ORPHA:573278 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Seborrheic dermatitis |
OMIM:301072 |
Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Telecanthus, Sparse eyelashes, Sacral dimple, Supernumerary nipple, ... |
OMIM:601803 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
Pycnodysostosis |
|
Increased bone mineral density, Prominent nose, Spondylolysis, Osteolytic defects of the distal p... |
OMIM:265800 |
Familial Keratoacanthoma |
|
Papule, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Systemic Lupus Erythematosus |
|
Alopecia |
ORPHA:536 |
Chand Syndrome |
|
Hydroureter, Depressed nasal bridge, Atelectasis, Ankyloblepharon, Skin erosion, Commissural lip ... |
ORPHA:1401 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Decreased response to growth hormone stimulation test |
OMIM:180500 |
Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... |
ORPHA:79431 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Intestinal bleeding |
ORPHA:424016 |
Fryns Syndrome |
|
Omphalocele, Aplasia of the left hemidiaphragm, Opacification of the corneal stroma, Camptodactyl... |
OMIM:229850 |
Behcet Syndrome |
|
Patchy alopecia |
OMIM:109650 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Cerebral amyloid angiopathy |
OMIM:176500 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Corneal pterygium, Symblepharon, Skin ulcer |
OMIM:245660 |
Yunis-Varon Syndrome |
|
Cataract, Sclerocornea, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralogy ... |
OMIM:216340 |