Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
OMIM:620058 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Flared metaphysis, Hydrops fetalis, Micromelia, Polyhydram... |
OMIM:215045 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Opacification o... |
OMIM:136120 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hydrocephalus, Death in childhood, Hydrops fetalis, Epicanthus, Ascites... |
OMIM:269920 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Oligodact... |
ORPHA:521308 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Upper limb undergrowth |
OMIM:613124 |
Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Hydrops fetalis, Micromelia, Polyhydramnios, Umbilical hernia, Edema, Stillbirt... |
OMIM:600972 |
Boomerang Dysplasia |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, H... |
ORPHA:1263 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly |
OMIM:614416 |
Fetal Gaucher Disease |
|
Ectropion, Intracranial hemorrhage, Hydrops fetalis, Neonatal death, Death in infancy, Stillbirth... |
ORPHA:85212 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Microcornea |
ORPHA:2432 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Hydrops Fetalis, Nonimmune |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Abnormal left ventricular function, Hydrops fetalis, Arrhythmia, Ab... |
ORPHA:45452 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Winchester Syndrome |
|
Hirsutism, Corneal opacity |
OMIM:277950 |
Cenani-Lenz Syndrome |
|
Ectropion, Toe syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Shor... |
ORPHA:3258 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Arrhinencephaly, Telecanthus, Polyhydramnios, Narrow palpebral fissure, Blepharophimo... |
OMIM:300073 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hydrops fetalis, Neonatal death, Hand oligodactyly |
OMIM:276822 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, ... |
OMIM:619433 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hypertrophic cardiomyopathy, Hydrops fetalis, Ascites |
ORPHA:295 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Dysplastic Cortical Hyperostosis |
|
Limb undergrowth, Polyhydramnios, Hydrops fetalis, Abnormality of limb bone morphology |
ORPHA:2204 |
Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Hemolytic anemia, H... |
OMIM:245900 |
Isolated Split Hand-Split Foot Malformation |
|
Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly |
ORPHA:2440 |
Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Nonimmune hydrops fetalis, Death in adolescence, Neonatal death, Poly... |
OMIM:620014 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Short palpebral fissure, Short tibia, Abnormality of th... |
OMIM:251230 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the legs, Hydrocephalus, Miscarriage, Talipes equinovarus, Broad long bones, Short long... |
ORPHA:1865 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Achondrogenesis, Type Ii |
|
Hydrops fetalis, Short tubular bones of the hand, Polyhydramnios, Hypoplastic iliac wing, Edema, ... |
OMIM:200610 |
Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, Fetal aki... |
OMIM:618815 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis, Death in infancy |
OMIM:619340 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Hydrops fetalis, Micromelia, Hypoplasia of t... |
ORPHA:85166 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Postaxial polydactyly, Aplasia/Hypoplasia of the eyebrow, Hydrops... |
OMIM:614091 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Absent eyebrow, Palmar telangiectasia, Palpebral edema, Hydr... |
ORPHA:69735 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Upslanted palpebral fissure, Oligodactyly, Short foot, Umbilical ... |
OMIM:619758 |
Achondrogenesis Type 1B |
|
Talipes equinovarus, Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Polyhydramnios, Sho... |
ORPHA:93298 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Polyhydramnios, Short foot, Umbilical he... |
ORPHA:93299 |
Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... |
OMIM:603830 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Short femur, Adducted thumb, Flared metaphysis, Hydrops fetalis, Tele... |
OMIM:616897 |
Indomethacin Embryofetopathy |
|
Oligohydramnios, Hydrops fetalis, Premature birth, Cardiomyopathy |
ORPHA:1909 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death |
OMIM:619003 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Advanced ossification of carpal bones, Bilateral talipes equinovarus, B... |
OMIM:269250 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... |
OMIM:618052 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Nonimmune hydrops fetalis, Cardiomyopathy, Death in infancy, Abnormality of the amniotic fluid |
OMIM:608540 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Polyhydramnios, Umbilical hernia |
ORPHA:932 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Upslanted palpebral fissure, Hydrops fetalis, Telecanthus, Epicanthus, Lymphedema, Atrial flutter... |
OMIM:601927 |
Hydrops Fetalis |
|
Miscarriage, Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Twin-to-twin transfusion, Lym... |
ORPHA:1041 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Hb Bart'S Hydrops Fetalis |
|
Hydrocephalus, Preeclampsia, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Cong... |
ORPHA:163596 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Short tibia, Single transverse palmar crease, Triphalangeal... |
OMIM:201170 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Corneal opacity |
ORPHA:2370 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly |
OMIM:172880 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Klippel-Trénaunay Syndrome |
|
Hydrops fetalis, Pulmonary embolism, Prolonged bleeding time, Upper limb asymmetry, Internal hemo... |
ORPHA:90308 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Trisomy 1Q |
|
Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Hydrops fetalis, Downslanted palpebral fi... |
ORPHA:261344 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... |
ORPHA:2414 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Absent eyebrow, Palmar telangiectasia, Palpebral edema, Noni... |
OMIM:607823 |
Minicore Myopathy With External Ophthalmoplegia |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Ptosis |
OMIM:255320 |
Bartsocas-Papas Syndrome 1 |
|
Ablepharon, Ankyloblepharon, Absent thumb, Cicatricial lagophthalmos, Pterygium, Talipes equinova... |
OMIM:263650 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
GĂłmez-LĂłpez-HernĂĄndez Syndrome |
|
Corneal opacity, Alopecia of scalp |
ORPHA:1532 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Down-sloping shoulders, Ulnar deviation of finger, Downslanted palpebral fissures, Umbilical hern... |
OMIM:265000 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Lcat Deficiency |
|
Corneal opacity, Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol... |
ORPHA:650 |
Fish-Eye Disease |
|
Corneal opacity, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:79292 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Ol... |
OMIM:236500 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Abnormal morphology of ulna, Split foot, Aplasia/Hypoplasia of the radius, Abnormal metacarpal mo... |
ORPHA:1307 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand... |
ORPHA:3104 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma |
ORPHA:1473 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Short palpebral fissure, Hand oligodactyly, Camptodactyly of ... |
OMIM:206920 |
Mulibrey Nanism |
|
Hydrops fetalis, Single transverse palmar crease, Iris coloboma, Thickened cortex of long bones, ... |
OMIM:253250 |
Fibrochondrogenesis 1 |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Short long bone, Narrow greater sc... |
OMIM:228520 |
Sialidosis Type 2 |
|
Pedal edema, Ascites, Hydrops fetalis, Umbilical hernia |
ORPHA:87876 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Fraser Syndrome 3 |
|
Short toe, Cryptophthalmos, Hydrops fetalis, Cutaneous syndactyly |
OMIM:617667 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Limited pronation/supination of forearm, Overlapping fingers, Hydrops fetalis, Radioulnar synosto... |
OMIM:616738 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Achondrogenesis, Type Ia |
|
Bowing of the legs, Short clavicles, Severe limb shortening, Talipes equinovarus, Hypoplasia of t... |
OMIM:200600 |
Olmsted Syndrome 1 |
|
Alopecia universalis, Corneal opacity, Sparse hair, Opacification of the corneal stroma, Nail dys... |
OMIM:614594 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Cornea... |
ORPHA:171673 |
Greenberg Dysplasia |
|
Micromelia, Nonimmune hydrops fetalis, Rhizomelia, Tetraphocomelia, Fractured rib, Short long bon... |
OMIM:215140 |
Tetramelic Monodactyly |
|
Split hand, Hand monodactyly, Foot monodactyly, Split foot |
OMIM:187510 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Hydrocephalus, Hypoplasia of the radius, Oligodactyly, Oligohydramnios |
ORPHA:3016 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Glycogen Storage Disease Iv |
|
Hydrops fetalis, Polyhydramnios, Edema, Portal hypertension, Ascites, Cardiomyopathy, Decreased f... |
OMIM:232500 |
Trisomy 13 |
|
Ectrodactyly, Hydrops fetalis, Bilateral single transverse palmar creases, Postaxial hand polydac... |
ORPHA:3378 |
Campomelia, Cumming Type |
|
Hydrops fetalis, Brachydactyly, Micromelia, Lymphedema, Death in infancy, Bowing of the long bone... |
ORPHA:1318 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Hydrops fetalis, Premature birth, Ascites |
ORPHA:2123 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Corneal opacity, Alopecia, Cataract, Abnormal hair morphology |
ORPHA:317 |
Mucopolysaccharidosis, Type Vii |
|
Proximal tapering of metacarpals, Hydrocephalus, Thick eyebrow, Talipes equinovarus, Narrow great... |
OMIM:253220 |
Mosaic Trisomy 9 |
|
Talipes equinovarus, Upslanted palpebral fissure, Deep palmar crease, Camptodactyly of finger, Hy... |
ORPHA:99776 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Postaxial polydactyly, Retinal coloboma, Preaxial polydactyly, Hydrops fetalis, An... |
OMIM:616546 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Hydrops fetalis, Premature birth, Hypotension, Myocarditis, Polyhydramnios, Pe... |
ORPHA:292 |
Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Hy... |
ORPHA:2879 |
Alg8-Cdg |
|
Talipes equinovarus, Oligohydramnios, Hydrops fetalis, Brachydactyly, Camptodactyly, Edema, Ascit... |
ORPHA:79325 |
Stuve-Wiedemann Syndrome 2 |
|
Death in adolescence, Neonatal death, Camptodactyly, Bowing of the long bones, Pulmonary arterial... |
OMIM:619751 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Transaldolase Deficiency |
|
Telangiectasia, Hydrops fetalis, Edema |
ORPHA:101028 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Osteogenesis Imperfecta, Type Ii |
|
Tibial bowing, Pulmonary insufficiency, Nonimmune hydrops fetalis, Crumpled long bones, Limb unde... |
OMIM:166210 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
Neuraminidase Deficiency |
|
Facial edema, Hydrops fetalis, Ascites, Cardiomyopathy, Epiphyseal stippling |
OMIM:256550 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Pallister-Hall Syndrome |
|
Distal shortening of limbs, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Holoprosencep... |
OMIM:146510 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Cataract, Low anterior hairline |
OMIM:613153 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Telecanthus, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand polyd... |
OMIM:165590 |
Blomstrand Lethal Chondrodysplasia |
|
Distal shortening of limbs, Metaphyseal cupping, Flared metaphysis, Hydrops fetalis, Premature bi... |
ORPHA:50945 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness |
OMIM:614170 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Hemochromatosis, Neonatal |
|
Abnormal bleeding, Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:231100 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Slender long bones with narrow diaphyses, Sparse eyebrow, Absent thumb, Tapered fi... |
ORPHA:3472 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... |
OMIM:613270 |
Mucopolysaccharidosis Type 7 |
|
Abnormal hip bone morphology, Hydrops fetalis, Lymphedema, Epiphyseal stippling, Metatarsus adduc... |
ORPHA:584 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pili torti, Corneal opacity, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Spars... |
OMIM:602400 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Death in infancy, Premature birth |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Nonimmune hydrops fetalis, Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Prematu... |
OMIM:618835 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Facial telangiectasia in butterfly midface distribution, Sparse eyelashes, Palpeb... |
OMIM:137940 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Encephalocele, Broad hallux phalanx, Downslanted palpebral fissures, Broad thu... |
ORPHA:2211 |
Lethal Congenital Contracture Syndrome 10 |
|
Talipes equinovarus, Adducted thumb, Overlapping fingers, Hydrops fetalis, Oligohydramnios, Fetal... |
OMIM:617022 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Hand monodactyly, Split foot |
OMIM:183800 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Limb-Mammary Syndrome |
|
Blepharitis, Clinodactyly of the 5th finger, Lacrimal duct atresia, Sparse eyebrow, 3-4 finger cu... |
ORPHA:69085 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Nonimmune hydrops fetalis, Epicanthus, Polyhydramnios, ... |
OMIM:616843 |
Hurler-Scheie Syndrome |
|
Generalized hirsutism, Corneal opacity, Splenomegaly |
ORPHA:93476 |
Congenital Rubella Syndrome |
|
Corneal opacity, Splenomegaly, Thrombocytopenia, Cataract, Anemia, Aplasia/Hypoplasia of the iris |
ORPHA:290 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Hydrops fetalis, Iris coloboma, Eyelid coloboma, Short palm, Foot polydactyly, Cho... |
ORPHA:268249 |
Mietens Syndrome |
|
Corneal opacity, Wide nasal bridge, Microcornea, Short nose, Cataract, Sclerocornea |
ORPHA:2557 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Corneal opacity, Thick eyebrow, Synophrys, Conjunctivitis, Wide nasal bridge |
OMIM:602562 |
Free Sialic Acid Storage Disease |
|
Hydrops fetalis, Ascites, Abnormality of the upper limb |
ORPHA:834 |
Harel-Yoon Syndrome |
|
Short nose, Developmental cataract, Corneal opacity |
OMIM:617183 |
Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Sparse hair, Alopecia, Abnormal anterior chamber morp... |
ORPHA:3163 |
Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187601 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal dystrophy, Corneal degeneration |
OMIM:610158 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Conjunctivitis, Leukocytosis |
ORPHA:26137 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bo... |
ORPHA:1106 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Hereditary Bullous Dystrophy, Macular Type |
|
Congenital abnormal hair pattern, Atrichia, Corneal opacity, Alopecia, Cataract, Nail dystrophy |
ORPHA:1867 |
Cranioectodermal Dysplasia 2 |
|
Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Hydrops fetalis, Brachydactyly, Po... |
OMIM:613610 |
Mgat2-Cdg |
|
Abnormal bleeding, Hydrops fetalis, Arrhythmia, Brachydactyly, Downslanted palpebral fissures, Lo... |
ORPHA:79329 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Farber Disease |
|
Joint swelling, Short toe, Abnormality of the hand, Hydrops fetalis, Abnormality of the wrist, Ab... |
ORPHA:333 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Hydrops fetalis, Premature birth, Limb undergrowth, Abnormal epiphysis m... |
ORPHA:354 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Abnormal eyelash ... |
ORPHA:1794 |
Atopic Keratoconjunctivitis |
|
Keratitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes, Keratoconjun... |
ORPHA:163934 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short nose, Corneal opacity |
OMIM:618961 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Iris pigment dispersion, Abnormal anterior chamber morphology, Pigment d... |
ORPHA:69736 |
Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Ectrodactyly, Abnormality of finger, Abnormality of the humerus, Arrhinencephaly, Ab... |
ORPHA:2538 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Corneal perforation, Corneal stromal edema, Descemet Membrane Folds, Herpetiform corne... |
ORPHA:137599 |
Tukel Syndrome |
|
Carpal synostosis, Carpal bone aplasia, Syndactyly, Congenital fibrosis of extraocular muscles, P... |
OMIM:609428 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
Cornelia De Lange Syndrome |
|
Short 1st metacarpal, Micromelia, Radioulnar synostosis, Long eyelashes, Elbow dislocation, Bleph... |
ORPHA:199 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism, Cataract |
OMIM:152950 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow, Hypocholesterolemia, Developmental cataract, Wide nasal bridge |
OMIM:618810 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Aplasia/Hypoplasia of the iris |
ORPHA:137902 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
Alg9-Cdg |
|
Ulnar deviation of the hand, Talipes equinovarus, Tricuspid regurgitation, Narrow greater sciatic... |
ORPHA:79328 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Popliteal pterygi... |
ORPHA:1234 |
Arthrogryposis Multiplex Congenita 6 |
|
Adducted thumb, Death in childhood, Neonatal death, Polyhydramnios, Death in infancy, Decreased f... |
OMIM:619334 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Polyhydramnios, Dilated cardiomyopathy, Portal hypertension, Ascites, ... |
ORPHA:367 |
Gm1-Gangliosidosis, Type I |
|
Hydrops fetalis, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, Congestiv... |
OMIM:230500 |
Yunis-Varon Syndrome |
|
Sparse eyebrow, Absent thumb, Cutaneous syndactyly, Congenital hip dislocation, Down-sloping shou... |
OMIM:216340 |
Rodrigues Blindness |
|
Fine hair, Sparse hair, Microcornea, Sclerocornea |
OMIM:268320 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hydrocephalus, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Gaucher Disease, Perinatal Lethal |
|
Petechiae, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios, Purpura, Desquamation of sk... |
OMIM:608013 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hydrops fetalis, Arrhythmia, Prenatal maternal abnormality, Dilated cardiomyopathy, Abnormality o... |
OMIM:609015 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Mesome... |
OMIM:602418 |
Gm1 Gangliosidosis Type 1 |
|
Broad metacarpals, Flattened femoral head, Short long bone, Flared iliac wing, Abnormal placenta ... |
ORPHA:79255 |
Alpha-Mannosidosis |
|
Corneal opacity, Cataract, Splenomegaly |
ORPHA:61 |
Acrofacial Dysostosis, RodrĂguez Type |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aqueductal stenosis, Hand oligodactyly, Arrh... |
ORPHA:1788 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Tangier Disease |
|
Corneal opacity, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Nail dystrophy, A... |
ORPHA:31150 |
Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Pallister-Hall Syndrome |
|
Downslanted palpebral fissures, Umbilical hernia, Polydactyly affecting the 4th finger, Polydacty... |
ORPHA:672 |
Sialidosis Type 1 |
|
Corneal opacity, Cataract, Wide nasal bridge, Splenomegaly |
ORPHA:812 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis |
OMIM:153100 |
Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium |
OMIM:619339 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in childhood, Nonimmune hydrops fetalis, Pericardial effusion, Cardiomyopathy, Death in inf... |
OMIM:212065 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Death in infancy, Pleural effusion, Ascites, Prolonged prothrombin time |
OMIM:617049 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... |
OMIM:210250 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Microcornea, Cataract, Fine hair, Corneal dystrophy, Keratoconjunctivitis sicca, Scl... |
ORPHA:1806 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Cardiomegaly |
OMIM:618654 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Hydrops fetalis, Brachydactyly, Postaxial polysyndactyly of foot, Postax... |
OMIM:263520 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Short nose, Cataract, Corneal opacity |
ORPHA:496790 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Cardiomegaly |
OMIM:300886 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Holoprosencephaly, Coloboma, Anterior encephalocele, Foot oligodactyly |
OMIM:601357 |
Microphthalmia, Isolated 3 |
|
Sclerocornea |
OMIM:611038 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Xanthelasma, Abnorm... |
ORPHA:425 |
Galactosialidosis |
|
Nonimmune hydrops fetalis, Conjunctival telangiectasia |
OMIM:256540 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Capillary Malformation-Arteriovenous Malformation |
|
Hydrocephalus, High-output congestive heart failure, Chylothorax, Abnormal bleeding, Nonimmune hy... |
ORPHA:137667 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Umbilical hernia, Pericardial ef... |
OMIM:239850 |
Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Downslanted palpebr... |
OMIM:154400 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Unilateral ulnar hypoplasia... |
OMIM:608571 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... |
OMIM:221900 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Nail dystrophy, Spl... |
OMIM:205400 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... |
ORPHA:70476 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
Hennekam Syndrome |
|
Chylothorax, Camptodactyly of finger, Hydrops fetalis, Epicanthus, Lymphedema, Ascites, Pericardi... |
ORPHA:2136 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly |
ORPHA:88643 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Hirsutism, Leukopenia, Elevated circulating creatine kinase concentration, Astig... |
OMIM:301056 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Corneal dystrophy |
OMIM:609141 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Iris coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis |
OMIM:615145 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:143890 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Alpha-Mannosidosis, Adult Form |
|
Hepatosplenomegaly, Cataract, Corneal opacity, Pancytopenia |
ORPHA:309288 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Upslanted palpebral fissure, Hydrops fetalis, Bilateral fetal pyelectasis, Broad palm, Polyhydram... |
OMIM:300868 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hydrops fetalis, Cardiomyopathy, Prolonged prothrombin time |
ORPHA:88618 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Megalocornea, Short nose, Developmental glaucoma, Generalized hypertrichosis |
ORPHA:2409 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Blepharitis, Ectrodactyly, Absent eyebrow, Abnormal nasolacrimal system morphology, Thin eyebrow,... |
ORPHA:2273 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrocephalus, Subdural hemorrhage, Dehydration, Hydrops fetalis, Pulmonary embolism, Dilated car... |
ORPHA:79282 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation, Increased circulating farnesol concentration, Hypocholesterolem... |
OMIM:618156 |
Poland Syndrome |
|
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Hyperlipidemia, Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased... |
ORPHA:1830 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Multiple Sulfatase Deficiency |
|
Corneal opacity, Thick eyebrow, Splenomegaly, Coarse hair, Cataract |
ORPHA:585 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Aniridia, Developmental glaucoma |
ORPHA:1064 |
Walker-Warburg Syndrome |
|
Corneal opacity, Microcornea, Abnormal circulating creatine kinase concentration, Iris coloboma, ... |
ORPHA:899 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Corneal opacity, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Short nose, Ca... |
ORPHA:2719 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal ulceration, Corneal scarring, Sparse scalp hair, Opacification of the corneal ... |
OMIM:256800 |
Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Hydrops fetalis, Tricuspid regurgitation, Edema |
OMIM:212093 |
Juvenile Sialidosis Type 2 |
|
Hepatosplenomegaly, Generalized hypertrichosis, Cataract, Corneal opacity |
ORPHA:93399 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hydrops fetalis, Syndactyly |
OMIM:224120 |
Mucopolysaccharidoses, Unclassified Types |
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Opacification of the corneal stroma |
OMIM:252700 |
Cystinosis |
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Corneal opacity, Hypophosphatemia, Hypokalemia |
ORPHA:213 |
Klippel-Trenaunay-Weber Syndrome |
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Hand oligodactyly, Syndactyly, Lymphedema, Hand polydactyly, Macrodactyly |
OMIM:149000 |
Atelosteogenesis, Type I |
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Aplasia/Hypoplasia of the ulna, Rhizomelia, Multinucleated giant chondrocytes in epiphyseal carti... |
OMIM:108720 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
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Sparse hair, Sparse eyelashes, Opacification of the corneal stroma, Absent pubic hair, Hypoplasti... |
OMIM:211370 |
Zellweger Syndrome |
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Corneal opacity, Posterior embryotoxon, Cataract, Brushfield spots, Wide nasal bridge |
ORPHA:912 |
Hepatoerythropoietic Porphyria |
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Ectropion, Abnormal bleeding, Seborrhoeic blepharitis, Keratoconjunctivitis, Nonimmune hydrops fe... |
ORPHA:95159 |
Dermochondrocorneal Dystrophy |
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Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy |
OMIM:221800 |
Corneal Dystrophy, Posterior Amorphous |
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Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Abnormal T cell morphology, Opacification of the corneal stroma |
OMIM:215250 |
Congenital Sialidosis Type 2 |
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Corneal opacity, Hepatosplenomegaly, Cataract, Developmental cataract, Generalized hypertrichosis |
ORPHA:93400 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly |
OMIM:613576 |
Generalized Eruptive Keratoacanthoma |
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Abnormal cornea morphology, Conjunctivitis, Keratoconjunctivitis sicca |
ORPHA:411777 |
Heterotaxy, Visceral, 1, X-Linked |
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Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Enlarged kid... |
OMIM:306955 |
Persistent Hyperplastic Primary Vitreous |
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Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... |
ORPHA:91495 |
Autoimmune Polyendocrinopathy Type 1 |
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Alopecia, Opacification of the corneal stroma, Cataract, Increased circulating cortisol level |
ORPHA:3453 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... |
OMIM:609638 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Brittle Cornea Syndrome 1 |
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Abnormal cornea morphology, Keratoconus, Keratoglobus, Red hair, Decreased corneal thickness |
OMIM:229200 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Corneal opacity, Sparse eyebrow, Abnormal eyelash morphology, Cataract, Widow's peak, Conjunctiva... |
ORPHA:2399 |
Neurotrophic Keratopathy |
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Corneal scarring, Corneal ulceration, Corneal perforation, Corneal stromal edema, Recurrent corne... |
ORPHA:137596 |
Microphthalmia With Brain And Digit Anomalies |
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Iris coloboma, Cataract, Microcornea, Sclerocornea |
ORPHA:139471 |
Scheie Syndrome |
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Corneal opacity, Splenomegaly |
ORPHA:93474 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Nonimmune hydrops fetalis, Premature birth |
OMIM:618838 |
Attrv30M Amyloidosis |
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Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Ophthalmomandibulomelic Dysplasia |
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Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Sanjad-Sakati Syndrome |
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Corneal opacity, Hypocalcemia, Hyperphosphatemia, Astigmatism |
ORPHA:2323 |
Hurler-Scheie Syndrome |
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Hirsutism, Corneal opacity, Splenomegaly |
OMIM:607015 |
Schimke Immunoosseous Dysplasia |
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Lymphopenia, Coarse hair, Opacification of the corneal stroma, Thrombocytopenia, Pancytopenia, As... |
OMIM:242900 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of... |
OMIM:276820 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Ventricular hypertrophy, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly |
OMIM:619051 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Mucoepithelial Dysplasia, Hereditary |
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Alopecia, Corneal neovascularization, Eosinophilia, Keratoconjunctivitis, Opacification of the co... |
OMIM:158310 |
Peroxisome Biogenesis Disorder 3B |
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Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Timothy Syndrome |
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Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Steatorrhea, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Carnitine Deficiency, Systemic Primary |
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Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Schimmelpenning-Feuerstein-Mims Syndrome |
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Hypophosphatemic rickets, Corneal opacity, Alopecia |
OMIM:163200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
Oculocerebrocutaneous Syndrome |
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Corneal opacity, Iris coloboma, Alopecia |
ORPHA:1647 |
Mucolipidosis Type Iv |
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Corneal opacity |
ORPHA:578 |
Abetalipoproteinemia |
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Corneal ulceration, Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steato... |
ORPHA:14 |
Distal Monosomy 6P |
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Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, H... |
ORPHA:96125 |
Stromme Syndrome |
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Accessory spleen, Wide nasal bridge, Microcornea, Peters anomaly, Iris coloboma, Cataract, Sclero... |
OMIM:243605 |
3Q29 Microduplication Syndrome |
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Wide nasal bridge, Iris coloboma, Cataract, Aniridia, Sclerocornea |
ORPHA:251038 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hydrops fetalis, Polyhydramnios, Edema, Fetal polyuria, Premature birth |
OMIM:602522 |
Gorlin-Chaudhry-Moss Syndrome |
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Generalized hirsutism, Low anterior hairline, Coarse hair, Astigmatism, Sclerocornea |
ORPHA:2095 |
Familial Atrial Myxoma |
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Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Dyschondrosteosis-Nephritis Syndrome |
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Corneal opacity |
ORPHA:1765 |
Adams-Oliver Syndrome 6 |
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Tricuspid regurgitation, Brachydactyly, Syndactyly, Portal hypertension, Foot oligodactyly |
OMIM:616589 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion |
OMIM:619313 |
Hurler Syndrome |
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Corneal opacity, Hirsutism, Splenomegaly, Hepatosplenomegaly, Opacification of the corneal stroma... |
OMIM:607014 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Blackfan-Diamond Anemia |
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Abnormality of the thenar eminence, Absent thumb, Partial duplication of thumb phalanx, Nonimmune... |
ORPHA:124 |
Congenital Tricuspid Valve Dysplasia |
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Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Neurooculocardiogenitourinary Syndrome |
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Ventricular septal defect, Atrial septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Axenfeld-Rieger Syndrome, Type 2 |
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Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Wide nasal bridge |
OMIM:601499 |
Familial Dysautonomia |
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Corneal opacity, Abnormal pupil morphology, Corneal erosion, Hyponatremia, Heterochromia iridis |
ORPHA:1764 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Decreas... |
ORPHA:96180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
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Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Coloboma, Ocular, Autosomal Dominant |
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Peters anomaly, Corneal opacity |
OMIM:120200 |
Pearson Syndrome |
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Corneal stromal edema, Dehydration, Hydrops fetalis, Cardiac conduction abnormality, Cardiomyopat... |
ORPHA:699 |
Fixed Subaortic Stenosis |
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Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
8Q21.11 Microdeletion Syndrome |
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Iris hypopigmentation, Corneal opacity, Cataract, Sclerocornea |
ORPHA:284160 |
Dubowitz Syndrome |
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Sparse scalp hair, Megalocornea, Aplastic anemia, Hypocholesterolemia, Iris coloboma, Hypoplasia ... |
OMIM:223370 |
Baller-Gerold Syndrome |
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Hand oligodactyly, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the radius, Epicanthu... |
ORPHA:1225 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Acanthocytosis, Steatorrhea |
ORPHA:71 |
Oculoauricular Syndrome |
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Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... |
OMIM:612109 |
Kaufman Oculocerebrofacial Syndrome |
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Sparse hair, Sparse eyebrow, Microcornea, Astigmatism, Hypocholesterolemia, Short nose |
OMIM:244450 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Thickened nuchal skin fold, Pulmonary insufficiency, Right-to-left shunt, Nonimmune hydrops fetal... |
OMIM:265380 |
Attrv122I Amyloidosis |
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Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Wilson Disease |
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Anemia, Thrombocytopenia, Kayser-Fleischer ring, Splenomegaly |
ORPHA:905 |
Gomez-Lopez-Hernandez Syndrome |
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Short nose, Opacification of the corneal stroma, Alopecia |
OMIM:601853 |
Mucolipidosis Iii Alpha/Beta |
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Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification of the corneal stroma |
OMIM:252600 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
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Corneal opacity, Cataract, Aniridia |
OMIM:612469 |
Congenital Erythropoietic Porphyria |
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Ectropion, Abnormal bleeding, Seborrhoeic blepharitis, Keratoconjunctivitis, Nonimmune hydrops fe... |
ORPHA:79277 |
Generalized Arterial Calcification Of Infancy |
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Recurrent spontaneous abortion, Stippled calcification of the elbow, Weak pulse, Hydrops fetalis,... |
ORPHA:51608 |
Cornelia De Lange Syndrome 1 |
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Dislocated radial head, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short sternum, Hand o... |
OMIM:122470 |
Al-Gazali Syndrome |
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Corneal opacity, Sclerocornea |
OMIM:609465 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hydrops fetalis, Micromelia, Abnormal pelvis bone ossification, Postaxial hand polydactyly, Epica... |
ORPHA:93271 |
Alpha-N-Acetylgalactosaminidase Deficiency |
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Cardiomegaly |
ORPHA:3137 |
Aniridia 1 |
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Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... |
OMIM:106210 |
CantĂș Syndrome |
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Abnormal heart valve morphology, Cardiomegaly, Umbilical hernia, Hypertrophic cardiomyopathy |
ORPHA:1517 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Corneal opacity, Alopecia, Hypoalbuminemia, Nail dystrophy, Anemia |
ORPHA:79396 |
Psoriasis 14, Pustular |
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Nail dystrophy, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
OMIM:614204 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Opacification of the corneal stroma |
OMIM:601356 |
Tbck-Related Intellectual Disability Syndrome |
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Hirsutism, Corneal opacity, Thick eyebrow, Abnormal circulating lipid concentration, Synophrys, W... |
ORPHA:488632 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Ectopia pupillae, Lens subluxation, Corneal opacity, Hypotriglyceridemia |
ORPHA:85167 |
Encephalocraniocutaneous Lipomatosis |
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Alopecia, Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Sclerocornea |
OMIM:613001 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Corneal opacity, Buphthalmos, Elevated circulating creatine kinase concentration, Megalocornea, P... |
OMIM:236670 |
Gaucher Disease |
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Hydrocephalus, Abnormal bleeding, Hydrops fetalis, Gingival bleeding, Death in infancy, Pulmonary... |
ORPHA:355 |
Iridocorneal Endothelial Syndrome |
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Hypoplastic iris stroma, Polycoria, Corneal stromal edema, Ectopia pupillae, Iris nevus, Uveal ec... |
ORPHA:64734 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hypertrophic cardiomyopathy, Hydrops fetalis |
OMIM:613673 |
Multiple Sulfatase Deficiency |
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Corneal opacity, Splenomegaly |
OMIM:272200 |
Tyrosinemia Type 2 |
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Corneal opacity |
ORPHA:28378 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Aortic valve stenosis, Mitral valve prolapse, Protruding tongue, Abnormal atrioventricular valve ... |
ORPHA:324410 |
Hurler Syndrome |
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Generalized hirsutism, Corneal opacity, Thick eyebrow, Splenomegaly, Wide nasal bridge |
ORPHA:93473 |
Restrictive Dermopathy 1 |
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Sparse eyebrow, Spontaneous chorioamniotic separation, Rocker bottom foot, Short palpebral fissur... |
OMIM:275210 |
Pearson Marrow-Pancreas Syndrome |
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Dehydration, Death in childhood, Hydrops fetalis |
OMIM:557000 |
Mucopolysaccharidosis, Type Iiib |
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Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Incontinentia Pigmenti |
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Keratitis, Corneal opacity, Supernumerary nipple, Alopecia, Eosinophilia, Cataract, Dystrophic to... |
ORPHA:464 |
Angioosteohypertrophic Syndrome |
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Telangiectasia of the skin, Hand oligodactyly, Pulmonary embolism, Hemihypertrophy of upper limb,... |
ORPHA:2346 |
Hemochromatosis, Type 1 |
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Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly |
OMIM:235200 |
Crimean-Congo Hemorrhagic Fever |
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Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Ventricular sep... |
ORPHA:363705 |
Coronary Arterial Fistula |
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Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Axenfeld anomaly, Frontal upsweep of hair, Opacification of the corneal stroma, Posterior embryot... |
OMIM:612582 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Elevated circulating long chain fatty acid concentration, Hypoplasia of the thymus, Opacification... |
OMIM:214110 |
Acquired Purpura Fulminans |
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Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:49566 |
Gaucher Disease Type 3 |
|