Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Galactosialidosis |
|
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology |
ORPHA:351 |
Winchester Syndrome |
|
Arthropathy, Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, C... |
OMIM:277950 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral microphthalmos, Microcornea, C... |
ORPHA:2334 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Large for gestational age, Microcornea, Microp... |
ORPHA:2432 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
OMIM:617388 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Cataract, Telecanthus, Carious teeth, Hemive... |
ORPHA:377 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Recurrent urinary tract infections, Short ne... |
OMIM:244600 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Recurrent respiratory infections, Craniofacial hyperostosis, Cataract, Cor... |
ORPHA:61 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Abnormality of the cervical spine, Epicanthus, Genu recurvatum, Campto... |
ORPHA:915 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr... |
OMIM:257850 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Short Syndrome |
|
Telecanthus, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Abnormali... |
ORPHA:3163 |
2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Camptodactyly of finger, Short neck, Abnormality iris morpho... |
ORPHA:1617 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p... |
ORPHA:1067 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... |
ORPHA:1473 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Joint stiffness, Hyperlordosis, Abnormal form of the ... |
ORPHA:577 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Vernal Keratoconjunctivitis |
|
Abnormal cornea morphology, Abnormal conjunctiva morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia, Orbital cyst |
OMIM:251505 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Upslanted palpebral fissure, Epicanthus, Iris cyst, Ptosis |
OMIM:620086 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal form of the vertebral bodies, Reduced bone mineral density, Thin vermil... |
ORPHA:2370 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... |
ORPHA:313892 |
Myopathy, Tubular Aggregate, 1 |
|
Joint contracture, Abnormal pupil morphology, Flexion contracture, Elevated circulating creatine ... |
OMIM:160565 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Sepsis, Patellar hypoplasia, Knee flexion contracture, ... |
ORPHA:477 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration, Scoliosis |
ORPHA:101082 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Kbg Syndrome |
|
Vertebral fusion, Telecanthus, Persistent open anterior fontanelle, Thin upper lip vermilion, Mac... |
ORPHA:2332 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hyperpigmentation of the skin, Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypom... |
OMIM:175500 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Recurrent respiratory infections, Block vertebrae, Abnormal odontoid... |
OMIM:277300 |
Scheie Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Corneal opacity, Short neck, Genu valgum, Aortic val... |
OMIM:607016 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis, Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Optic nerve ... |
OMIM:615583 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Corneal opacity, Micrognathia, Optic atrophy, Developmental cataract, Upsl... |
OMIM:617183 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia of the maxi... |
OMIM:166300 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Mandibular prognathia, Retinal detachment, Epicanthus, Cataract, Corneal opacity, Thin upper lip ... |
OMIM:152950 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo... |
ORPHA:2916 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Elbow dislocation, Limitation... |
ORPHA:2741 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Short neck, Limbal stem cell deficiency, Finger joint hypermobility, Long philtrum, Corneal neova... |
OMIM:615225 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Smooth philtrum, Corneal opacity, Micrognathia, Keratitis, Synophrys, Wide mouth, Oligodontia, Co... |
OMIM:602562 |
Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Micro... |
OMIM:278730 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Abnormal pupil morphology, Non-midline clef... |
ORPHA:236 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Platyspondyly, Oli... |
OMIM:601216 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Verteb... |
OMIM:178110 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Microphthalmia, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Epicanthus, Carious teeth, Synophrys, Joint hyperflexibility... |
ORPHA:1390 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Proteus-Like Syndrome |
|
Mandibular prognathia, Thymus hyperplasia, Cataract, Genu recurvatum, Open bite, Splenomegaly, Ab... |
ORPHA:2969 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:312150 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Ankyloblepharon, B... |
OMIM:619339 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Abnormal dental pulp morp... |
ORPHA:2791 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid uvula, Incr... |
ORPHA:2363 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Cataract, Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hype... |
ORPHA:90653 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Rhegmatogenous retinal detachment, Short neck, Delayed epiphyseal o... |
ORPHA:485 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,... |
OMIM:616549 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Abnormal dental enamel morphology, Abnormality of the den... |
ORPHA:96169 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia... |
ORPHA:3319 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal ... |
ORPHA:1794 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Hypotriglyceridem... |
ORPHA:404454 |
Distal Deletion 6P |
|
Epicanthus, Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, O... |
ORPHA:96125 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Mandibular prognathia, Cataract, Highly arched eyebrow, Micrognathia, Hypoplasia of... |
OMIM:620157 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Chorioretinal dysplasia, Micrognathia, Abn... |
ORPHA:534 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Flexion contracture,... |
OMIM:270200 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... |
OMIM:113000 |
Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Carious teeth, Delayed skeletal maturation, Hypocalce... |
OMIM:244460 |
Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Micrognathia, Abnormal pupil morpholo... |
ORPHA:52 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Short neck, Micrognathia, Hypoplasia of the thymus, Hypocalcemia, Sho... |
ORPHA:567 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... |
OMIM:271630 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Persistence of primary teeth, Conical tooth, Dental malocclusion, Ectopia pupillae, Ast... |
OMIM:618727 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Telecanthus, Hyperopic astigmatism, Hypoplasia of the maxilla, Crowded max... |
ORPHA:397973 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck,... |
ORPHA:582 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Thin vermilion border, Corneal opacity |
ORPHA:1532 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis, Widely-spaced incisors, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris... |
OMIM:300915 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, C... |
OMIM:136760 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Optic atr... |
ORPHA:496790 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Widely spaced teeth, Joint laxity, Hyperlordosis, Hypoplasia of the odonto... |
OMIM:253010 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Epicanthus, Abnormal cervical curvature, Multiple pterygia, ... |
OMIM:253290 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Duane Retraction Syndrome |
|
Central heterochromia, Short neck, Micrognathia, Abnormal pupil morphology, Abnormal form of the ... |
ORPHA:233 |
Hereditary Fructose Intolerance |
|
Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Woolly Hair |
|
Abnormal pupil morphology, Hypopigmentation of hair, Cataract, Sparse lateral eyebrow |
ORPHA:170 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Gingival o... |
OMIM:614753 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Hypermagnesemia, Gout, Low-to-normal blood pressure, I... |
ORPHA:358 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Short neck, Camptodac... |
ORPHA:284160 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron... |
ORPHA:90650 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypercalcemia, Bone pain, Hypermagnesemia, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:167730 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Bartsocas-Papas Syndrome |
|
Median cleft lip, Corneal opacity, Micrognathia, Ankyloblepharon, Cleft palate, Popliteal pterygi... |
ORPHA:1234 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Dental crowding, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, ... |
OMIM:618175 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... |
OMIM:618363 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Erythematous oral mucosa, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerat... |
OMIM:158310 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Isolated Ectopia Lentis |
|
Mandibular prognathia, Cataract, Joint stiffness, Ectopia lentis, Hypertension, Ectopia pupillae,... |
ORPHA:1885 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Corneal opacity, Camptodactyly of finger,... |
OMIM:607015 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Epicanthus, Elevated circulating creatine kinase concentration, Bilateral ptosis, Thrombocytopeni... |
OMIM:619743 |
Koolen-De Vries Syndrome |
|
High palate, Widely spaced teeth, Iris hypopigmentation, Vertebral fusion, Prominent metopic ridg... |
OMIM:610443 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short p... |
ORPHA:193 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Hypoplasia of the maxilla, Multiple small vertebral fractures, Premature loss of teeth, Platyspon... |
OMIM:156510 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Abnormally large gl... |
ORPHA:363417 |
Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Recurrent fractures, Abnorma... |
ORPHA:1764 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Abnormality of retinal pigmentation, Cataract, Block vertebrae, Tarsal synostos... |
OMIM:272460 |
Unilateral Ocular Duplication |
|
Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcorn... |
ORPHA:3374 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Prominent m... |
ORPHA:364577 |
Oculofaciocardiodental Syndrome |
|
Microcornea, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Flexion contracture ... |
ORPHA:2712 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar prominence, ... |
ORPHA:2522 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Vertebral clefting, Cleft palate, To... |
ORPHA:1248 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo... |
OMIM:136300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral column, Scolio... |
ORPHA:2345 |
Lamb-Shaffer Syndrome |
|
Epicanthus, Micrognathia, Optic atrophy, Fused cervical vertebrae, Thoracic kyphosis, Thick vermi... |
ORPHA:530983 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi... |
OMIM:253000 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Woolly Hair Nevus |
|
Widely-spaced incisors, Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupilla... |
ORPHA:79414 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Joint laxity, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea ... |
OMIM:229200 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Anemia, Aplasia/Hyp... |
ORPHA:290 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis |
OMIM:145981 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema, Lens subluxation, Short neck |
ORPHA:3456 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h... |
OMIM:175780 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Glossoptosis, Oligodontia, Abnormal vertebral segmentation and fusion, Anodontia, S... |
ORPHA:90652 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Telecanthus, Dental crowding, Short neck, Micrognathia, Kyphos... |
OMIM:130720 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Thor... |
OMIM:216550 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Limitation of joint mobility, Spinal canal stenosis, Cardiomyopathy, Abnormal ve... |
ORPHA:93476 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Kyphoscoli... |
OMIM:109400 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Frontorhiny |
|
Epicanthus, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, H... |
ORPHA:391474 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Long philtrum,... |
OMIM:615877 |
Larsen Syndrome |
|
Cervical kyphosis, Knee dislocation, Shallow orbits, Spina bifida occulta, Hypoplastic cervical v... |
OMIM:150250 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Hypoplastic acetabulae, Platyspondyly, Scoliosis, Opacification of the corneal stroma, ... |
OMIM:230650 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Long p... |
OMIM:615145 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Rieger anomaly, Telecanthus, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the verte... |
OMIM:109120 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... |
OMIM:214300 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... |
OMIM:259600 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Epicanthus, Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper... |
ORPHA:88630 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Hypermelanotic macule, Abnormal prima... |
ORPHA:1830 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanocytes, Astigmatism, Freckl... |
ORPHA:54 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract, Bradycardia... |
OMIM:618815 |
Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed e... |
ORPHA:2409 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Small for gestational age, Elevated circulating creatine kinase concentration, Crani... |
OMIM:301056 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Pearson Syndrome |
|
Hypocalcemia, Neutropenia, Reticulocytosis, Cardiomyopathy, Hypokalemia, Hypomagnesemia, Hyperpig... |
ORPHA:699 |
Diaphanospondylodysostosis |
|
Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... |
ORPHA:66637 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Retinal detachment, Corneal opacity, Osteoporosis, Increased susceptibi... |
ORPHA:2788 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Telecanthus, Corneal opacity, Craniosynostosis, Micrognathia, Developmental glaucoma, Downturned ... |
ORPHA:1064 |
Oculoauricular Syndrome |
|
Retinal detachment, Cataract, Short mandibular rami, Sclerocornea, Phthisis bulbi, Spina bifida o... |
OMIM:612109 |
Baraitser-Winter Syndrome 2 |
|
Thin upper lip vermilion, Telecanthus, Highly arched eyebrow, Short neck, Orofacial cleft, Wide m... |
OMIM:614583 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Optic disc coloboma, Opacification o... |
OMIM:169550 |
Carpenter Syndrome 1 |
|
Short neck, Micrognathia, Hypoplasia of the maxilla, Microcornea, High palate, Spina bifida occul... |
OMIM:201000 |
Sialidosis Type 2 |
|
Kyphosis, Flexion contracture, Corneal opacity, Osteoporosis |
ORPHA:87876 |
Abruzzo-Erickson Syndrome |
|
Epicanthus, Cleft palate, Microcornea, Coloboma, Radioulnar synostosis, Chorioretinal coloboma, M... |
ORPHA:921 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Micrognathia, Kyphosis, Hypoplasia of the iris, Joint hyper... |
ORPHA:2479 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Craniosynostosis, Short neck, Abnormality of the dentition, Deep philtrum... |
ORPHA:251038 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Large for gestational age, Micrognathia, Syn... |
OMIM:213980 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Failure to thrive, Cataract, Small for gestational age, Kyphoscoliosis... |
OMIM:214150 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod... |
OMIM:618961 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Phthisis bulbi, Hyphema, Leukocoria, Uveitis, Buphthalmos, Microcornea... |
OMIM:221900 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Cervical kyphosis, Short neck, Elbow dislocation, Micrognathia, Hyp... |
OMIM:108721 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ... |
OMIM:609465 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Orofacial cleft, Microcornea, Abnormality of the maxi... |
ORPHA:141099 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, High palate, Short philtrum, Finger ... |
OMIM:212720 |
Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Epicanthus, Cataract, Optic disc coloboma, Microcornea, Coloboma, Vertebral seg... |
ORPHA:959 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Hypermelanotic macule, Weight loss, Irregular hyperpigmentation |
ORPHA:317 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Peters anomaly, Spinal rigidity, Cl... |
OMIM:613150 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, High palate, Hypomag... |
OMIM:223360 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormal... |
ORPHA:2323 |
Wagro Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Dental crowding, Micrognathia, Obesity, Hyperte... |
OMIM:612469 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Slender build |
OMIM:300676 |
Mucopolysaccharidosis, Type Vii |
|
Accelerated skeletal maturation, Short neck, Thoracolumbar kyphosis, Flexion contracture, Widely ... |
OMIM:253220 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Small for gestational age, Accelera... |
OMIM:101800 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Narrow palate, Multiple sut... |
ORPHA:207 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Genu valgum, Scoliosi... |
OMIM:252605 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog... |
OMIM:231070 |
Zellweger Syndrome |
|
Epicanthus, Posterior embryotoxon, Abnormal chorioretinal morphology, Corneal opacity, Cataract, ... |
ORPHA:912 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Downturned corners of mou... |
OMIM:617796 |
Premature Aging Syndrome, Penttinen Type |
|
Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxilla, Shallow orbits, Joint co... |
OMIM:601812 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Lacrimal duct a... |
ORPHA:1529 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Coloboma, Microphthalmia |
OMIM:613153 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Short neck, Micrognathia, Cleft pala... |
OMIM:614230 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Vertebral fusion, C... |
OMIM:139210 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Narrow mouth, Downturned corners of mouth, Wide mouth, Long philtrum, Short philtrum, Camptodacty... |
OMIM:617333 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia |
OMIM:601809 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Orofacial cleft, Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular ante... |
ORPHA:324416 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Cataract, Micrognathia, Microcornea, Iris transillumination defec... |
OMIM:617306 |
Atelis Syndrome 1 |
|
Cataract, Carious teeth, Lumbar kyphosis, Anemia, Leukopenia, High palate, Long philtrum, Irregul... |
OMIM:620184 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Bilateral ptosis, Osteoarthritis, Gener... |
OMIM:618000 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Co... |
OMIM:163200 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Chondrocalcinosis, Hypocalc... |
ORPHA:405 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Micrognathia, Brushfield spots, Cubitus valgus, Cleft pala... |
OMIM:214110 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he... |
OMIM:268310 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Upslant... |
ORPHA:1724 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Synophrys, Optic atrophy, U... |
OMIM:618737 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral densi... |
OMIM:617052 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet... |
ORPHA:192 |
Hurler Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Corneal opacity, Short neck, Joint stiffn... |
OMIM:607014 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Coloboma, Pulp calcification, T... |
OMIM:166750 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Small for gestational age, Hypoplasia of the maxilla, Synophrys, Narrow palpebral fissure, Broad ... |
OMIM:618302 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Epicanthus, Microcytic anemia, Short neck, Micrognathia, Flexion contracture, Retrognathia, HbH h... |
ORPHA:98791 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, High palate, Abnormal bone ossification, Abnormal verte... |
ORPHA:93315 |
Aicardi Syndrome |
|
Retinal detachment, Prominence of the premaxilla, Cataract, Block vertebrae, Cleft upper lip, Rec... |
OMIM:304050 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo... |
OMIM:180500 |
Temtamy Syndrome |
|
Aortic regurgitation, Dental crowding, Highly arched eyebrow, Ectopia lentis, Lens luxation, Micr... |
OMIM:218340 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Telecanthus, Generalized hypoplasia of dental enamel, Carious teeth, Fle... |
OMIM:203550 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
Axenfeld-Rieger Syndrome |
|
Telecanthus, Hypoplasia of the maxilla, Abnormal anterior chamber morphology, Aplasia/Hypoplasia ... |
ORPHA:782 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hypopigmentation of hair, Failure to thrive in infancy, Splenomegaly, Retinal pigme... |
OMIM:219800 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, P... |
ORPHA:85167 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Hypodontia... |
OMIM:602482 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Hemiverteb... |
OMIM:206900 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion, Abno... |
ORPHA:812 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Abnormal sacrum morphology, Optic atrophy, Abnormal form of the verteb... |
ORPHA:93262 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep... |
OMIM:602400 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median... |
OMIM:608670 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Prominent metopic ridge, Thoracic hemivertebrae, Scoliosis |
OMIM:309620 |
Alexander Disease |
|
Microcoria |
OMIM:203450 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Hyperkalemia, Hypertension, Astigmatism, Failure to thri... |
ORPHA:97362 |
Birk-Landau-Perez Syndrome |
|
Camptocormia, Failure to thrive in infancy, Hyperkalemia, Upslanted palpebral fissure, Hypertensi... |
OMIM:617595 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Epicanthus, Highly arched eyebrow, Accelerated skeletal maturation, Kyp... |
OMIM:617190 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Micrognathia, Thrombo... |
OMIM:259720 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Recurrent respiratory infections, Corneal opacity, Camptodactyly of finger... |
ORPHA:354 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Upslanted palpebral ... |
ORPHA:93950 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Telecanthus, Hypoplasia of the maxilla, Microcornea, Short philtrum, Evert... |
OMIM:601499 |
Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Leukocytosis, Myocarditis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Buphthalmos, Hypoplasia of the iris, Shallow anterior cham... |
OMIM:310600 |
Lujan-Fryns Syndrome |
|
Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of... |
ORPHA:776 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1445 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Bone pain, Abnormal f... |
ORPHA:828 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, High palate, Megalocornea, Bifid uvu... |
OMIM:211380 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodontia, High palate, Prominent U w... |
OMIM:170390 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ectropion, Corneal opacity, Cataract, Limitation of joint mobility, Ocu... |
ORPHA:2719 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Thoracic scoliosis, Short neck, Micrognathia, Generaliz... |
ORPHA:508498 |
Marshall Syndrome |
|
Retinal detachment, Cataract, Sparse eyelashes, Ectopia lentis, Sparse eyebrow, Micrognathia, Ost... |
ORPHA:560 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Recurrent respiratory infections, Sinusitis, Corneal opacity, Joint stiffness,... |
ORPHA:579 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Corneal erosion, Opt... |
ORPHA:87 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Carious teeth, Kyphosis, Open bite, Reduced bone mineral density, Vertebral segment... |
ORPHA:2617 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Keratitis, Hypoplasia of the m... |
OMIM:123500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Smooth philtrum, Epicanthus, Exaggerated cupid's bow, Micrognathia, Upslanted palpebral fissure, ... |
OMIM:618659 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Oligodontia, Spina bifida occulta, Wrist flexion contractur... |
ORPHA:1826 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta, Astigmatism, Hypomagnesemia |
OMIM:248190 |
Andersen-Tawil Syndrome |
|
Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, Hypoplasia of the thymus,... |
ORPHA:861 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Hip osteoart... |
OMIM:313400 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Highly arched eyebrow, Limited elbow movement, Craniosynostosis, Cl... |
OMIM:265050 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Aplasia of the thymus, Short neck, Kyphosis, Cleft lip, Hemivertebrae, Narrow palate,... |
OMIM:618223 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
Neuhauser Syndrome |
|
Osteopenia, Iridodonesis, Epicanthus, Genu recurvatum, Micrognathia, Genu valgum, Hypoplasia of t... |
OMIM:249310 |
Cystinosis |
|
Corneal opacity, Portal hypertension, Rickets, Hypokalemia, Hypophosphatemia, Failure to thrive |
ORPHA:213 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Anterior wedging of L1, Avascular necrosis, Lumbar hyperlordosis, Tricuspid ... |
OMIM:253200 |
Kbg Syndrome |
|
Vertebral fusion, Telecanthus, Tented upper lip vermilion, Macrodontia, Short neck, Synophrys, De... |
OMIM:148050 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Increased bone mineral density, Abnormal dental enamel morph... |
ORPHA:1798 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Block vert... |
ORPHA:50 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Epicanthus, Congenital hip dislocation, Jo... |
ORPHA:2412 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Abnormal size of the palpebral fissures, Corneal ... |
ORPHA:1101 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th... |
ORPHA:37042 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Recurrent upper respira... |
ORPHA:583 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive |
OMIM:203400 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Aortic regurgitation, Craniosynostosis, Hyperopic astigmatism, Irregular c... |
OMIM:252600 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition... |
ORPHA:2095 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Long p... |
OMIM:171480 |
8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Sparse eyelashes, Camptodactyly of finger, Highly arched eyebrow, Short neck, Sparse... |
ORPHA:178303 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Hyperkalemia, Weight loss, Hypovolemic... |
ORPHA:171876 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hyperplasia of the maxilla, High-ou... |
ORPHA:231226 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Malar prominence, Optic atr... |
ORPHA:2715 |
Ophthalmomandibulomelic Dysplasia |
|
Elbow dislocation, Temporomandibular joint ankylosis, Opacification of the corneal stroma, Decrea... |
OMIM:164900 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Atelis Syndrome 2 |
|
Epicanthus, Sacral dimple, Remnants of the hyaloid vascular system, Micrognathia, Diastema, Kypho... |
OMIM:620185 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Telecanthus, Highly arched eyebrow, Short neck, Hypoplasia of the maxilla, ... |
OMIM:609460 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... |
ORPHA:93357 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Malar flattening, Abnormally lar... |
OMIM:269300 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... |
OMIM:613686 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Flat acetabular roof, Upslanted palpebral fissure, Fused cervical vertebrae, Astigmat... |
OMIM:617159 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Small for gestational age, Hypoplasia of the maxilla, Delayed skeletal maturation, Ge... |
OMIM:608154 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology,... |
ORPHA:439822 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... |
OMIM:118100 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Sy... |
OMIM:619503 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Overweight, Recurrent otitis media, Cervical C2/C3 vertebral fusion, Sh... |
ORPHA:370010 |
Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Short neck, Micrognathia, Limitation of joint mobility,... |
ORPHA:96061 |
Alpha-Mannosidosis, Adult Form |
|
Osteopenia, Optic disc pallor, Aortic regurgitation, Cataract, Corneal opacity, Recurrent infecti... |
ORPHA:309288 |
Nager Syndrome |
|
Sparse lower eyelashes, Joint stiffness, Micrognathia, Hypoplasia of the maxilla, Non-midline cle... |
ORPHA:245 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Failure t... |
OMIM:610600 |
Weill-Marchesani Syndrome 1 |
|
Cataract, Lumbar hyperlordosis, Ectopia lentis, Joint stiffness, Hypoplasia of the maxilla, Micro... |
OMIM:277600 |
Incontinentia Pigmenti |
|
Uveitis, Orofacial cleft, Abnormality of skin pigmentation, Spina bifida occulta, Abnormal chorio... |
ORPHA:464 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:3253 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Keratitis, Absent eyelashes, Recurrent upper respiratory tract infections, Hip di... |
OMIM:308205 |
De Barsy Syndrome |
|
Osteopenia, Recurrent sinopulmonary infections, Epicanthus, Cataract, Corneal opacity, Congenital... |
ORPHA:2962 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Delayed eruption of primary teeth, Dilated cardiomyopathy, Lacrimal... |
OMIM:300952 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Epicanthus, Telecanthus, Tented upper lip vermilion, Dental crowding, Malar flatten... |
OMIM:612582 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hyperplasia of the maxilla, Anemia of inadequate ... |
ORPHA:231214 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Hypercalcemia, Eosin... |
ORPHA:199299 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Tricuspid regurgitation, Highly arched e... |
ORPHA:228396 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
Hec Syndrome |
|
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Developmental cataract |
ORPHA:2119 |
Linear Verrucous Nevus Syndrome |
|
Cataract, Genu recurvatum, Reduced bone mineral density, Abnormal cornea morphology, Scoliosis, H... |
ORPHA:2611 |
20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Epicanthus, Hypoplasia of the maxilla, Narrow mouth, Long philtru... |
ORPHA:261295 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity, Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral end... |
ORPHA:239 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Corneal opacity, ... |
ORPHA:584 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Wilson Disease |
|
Back pain, Splenomegaly, Bone pain, Increased body weight, Weight loss, Anemia, Kayser-Fleischer ... |
ORPHA:905 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, S... |
ORPHA:79102 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Short neck, Fused cervical vertebrae, Astigmatism, Decreased body weight,... |
OMIM:609053 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Micrognat... |
OMIM:236670 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... |
OMIM:263800 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... |
OMIM:194190 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hyperpigmentation of the skin, Corneal opacity, Craniosynostosis, Oral mucosal blisters, Depigmen... |
ORPHA:79396 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Short neck, Keratitis, Micrognathia, Carious teeth, Trismus, Elbow flexion contra... |
OMIM:272430 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia, Ectopia pupillae |
OMIM:156900 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... |
ORPHA:556037 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the d... |
ORPHA:1806 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality... |
ORPHA:53 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Arrhythmia |
ORPHA:2151 |
Infant Botulism |
|
Hyponatremia, Ptosis, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydr... |
ORPHA:178478 |
Multiple Sulfatase Deficiency |
|
Smooth philtrum, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness,... |
ORPHA:585 |
Mosaic Trisomy 9 |
|
Corneal opacity, Camptodactyly of finger, Short neck, Elbow dislocation, Micrognathia, Limitation... |
ORPHA:99776 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Corneal opacity, Hypopigmented skin patches, Orofacial cleft, Wide mo... |
ORPHA:1647 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Smooth philtrum, Thoracic kyphoscoliosis, Joint hypermobility, Hypoplasia of the maxilla, Flexion... |
ORPHA:481152 |
Farber Disease |
|
Abnormality of the knee, Corneal opacity, Flexion contracture, Osteoporosis, Abnormality of the e... |
ORPHA:333 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Genu recurvatum, Corneal opacity, Everted lower lip vermilio... |
ORPHA:578 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth, Abnormal form o... |
ORPHA:93399 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate, High palate, Camptodactyly |
OMIM:246560 |
Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Elbow dislocation, Avascular necrosis o... |
ORPHA:2557 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Flexi... |
ORPHA:682 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Delayed cranial... |
ORPHA:357058 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Epicanthus, Cataract, Prominent metopic ridge, Micrognathia, ... |
ORPHA:46059 |
Mirage Syndrome |
|
Hyponatremia, Thrombocytopenia, Radial club hand, Hyperkalemia, Intracranial hemorrhage, Leukopen... |
OMIM:617053 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Mandibular prognathia, Short neck, Widely spaced teeth, Avascular necrosis, Joint lax... |
ORPHA:309282 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive |
OMIM:177735 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotensi... |
ORPHA:556030 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Nuclear ca... |
OMIM:608885 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac... |
ORPHA:3214 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated circulating C-rea... |
OMIM:612852 |
Flynn-Aird Syndrome |
|
Cataract, Cachexia, Joint stiffness, Carious teeth, Kyphosis, Scoliosis |
ORPHA:2047 |
Lathosterolosis |
|
Micrognathia, High palate, Thick upper lip vermilion, Increased mean platelet volume, Acanthocyto... |
OMIM:607330 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, High palate, Shallow orbits, Lumbar hyperlordosis, Delayed skeletal ma... |
OMIM:608328 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia |
ORPHA:57 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Iris atrophy, Cataract, Malar flattening, Ectopia lentis, Cubitus valgus, Dental ma... |
OMIM:601552 |
Hurler Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Camptodactyly of finger, Angina pectoris, Shor... |
ORPHA:93473 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Smooth philtrum, Epicanthus, Small for gestational age, Abnormality of the dentitio... |
ORPHA:94065 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Hypotension |
OMIM:264350 |
3Mc Syndrome 3 |
|
Sacral dimple, Corneal opacity, Highly arched eyebrow, Cleft upper lip, Cleft palate, Radioulnar ... |
OMIM:248340 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,... |
ORPHA:2909 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral ptosis, Sacral dimple, Bilateral microphthalmos, Hemivertebrae, Unilateral microphthal... |
OMIM:619318 |
Fucosidosis |
|
Corneal opacity, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebrae, Fa... |
ORPHA:349 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Abnormal T cell morphology, Thoracic kyphosis, Neutropenia, Microdontia, ... |
OMIM:242900 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Trismus, Deep philtrum, Hyperextensible hand joints, Dental malocclusion, Narro... |
OMIM:227330 |
Moebius Syndrome |
|
Epicanthus, Corneal opacity, Aplasia/Hypoplasia of the tongue, Micrognathia, Microdontia, Cleft p... |
ORPHA:570 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Synophrys, Deep philtrum, Downturned corners of mouth, Coloboma, Verteb... |
ORPHA:251014 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Submucous cleft hard palate, Cleft palate, Mi... |
ORPHA:899 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Epicanthus, Wide cranial sutures, Sacral dimple, Irregular dentition, T... |
OMIM:601390 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Narrow mouth, Pierre-Robin sequence, Downturned corners of mo... |
OMIM:611961 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypotens... |
ORPHA:428 |
Hypomagnesemia 3, Renal |
|
Failure to thrive, Hyperuricemia, Astigmatism, Hypomagnesemia |
OMIM:248250 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Bone pain, Downturned co... |
ORPHA:955 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Hemivertebrae, Microphthalmia, Abnormal vertebral morphology, Iris coloboma |
ORPHA:77298 |
East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red... |
ORPHA:740 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Cataract, Abnormally large globe, Flexion contracture, Coloboma, Scoliosis, Microphthalmia, Retin... |
OMIM:615249 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Monosomy 18P |
|
Epicanthus, Kyphoscoliosis, Short neck, Micrognathia, Carious teeth, Cleft palate, Downturned cor... |
ORPHA:1598 |
Recon Progeroid Syndrome |
|
Joint laxity, Smooth philtrum, Prominence of the premaxilla, Dental crowding, Thrombocytopenia, A... |
OMIM:620370 |
Knobloch Syndrome 1 |
|
Epicanthus, Telecanthus, Band keratopathy, Phthisis bulbi, Chorioretinal atrophy, Developmental c... |
OMIM:267750 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
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Short neck, Micrognathia, Narrow mouth, Synophrys, Obesity, Narrow palate, Hypoplasia of teeth, U... |
OMIM:620250 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition |
ORPHA:2776 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Hyp... |
OMIM:305400 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Ptosis, Hyperlordosis, Short neck, Hypoplasia of the zygomatic bone, High ... |
ORPHA:710 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Telecanthus, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Abnorm... |
ORPHA:1968 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Megalocornea, Progressive alveolar... |
OMIM:252500 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Spina bifida o... |
ORPHA:1452 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Chondrocalcinosis, Hypomagnesemia |
OMIM:154020 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Obesity, Wide m... |
OMIM:105830 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Mi... |
ORPHA:221016 |
Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hypoplastic vertebral bodies,... |
ORPHA:3027 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per... |
ORPHA:1775 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Poikiloderma With Neutropenia |
|
Joint laxity, Elevated circulating creatine kinase concentration, Joint stiffness, Sparse eyebrow... |
OMIM:604173 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Joint stiffness, Limitation of joint mobility, Wide mouth,... |
ORPHA:93474 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, High palate, Chorioretinal coloboma, Microphthalmia, Iris co... |
ORPHA:139471 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Cleft upper lip, Retrognathia, Cleft palate, Persistence of hemo... |
OMIM:612561 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Conical tooth, Absent eyelashes, Hypoplasia of the ma... |
OMIM:106260 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cataract, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Abnormality i... |
ORPHA:370959 |
Duane-Radial Ray Syndrome |
|
Epicanthus, Cataract, Fused cervical vertebrae, Shoulder dislocation, Retinal coloboma, Scoliosis... |
OMIM:607323 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Angina pectoris |
ORPHA:79292 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Sparse eyelashes, Micrognathia, Cleft palate, Persistence of hemoglobin F, Inc... |
OMIM:300946 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,... |
OMIM:234100 |
Wolf-Hirschhorn Syndrome |
|
Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, S... |
ORPHA:280 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Epicanthus, Anterior concavity of thoracic vertebrae, Micrognathia, Per... |
OMIM:617101 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Os odontoideum, Joint laxity, Aortic regurgitation, Corneal opacity, Hip dislocation,... |
OMIM:616603 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Epicanthus, Highly arched eyebrow, Accelerated skeletal maturation, Obesity, Hea... |
OMIM:618653 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio... |
OMIM:615108 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Epicanthus, Prominent metopic ridge, Corneal opacity, Tented upper lip ver... |
ORPHA:488632 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Abnormality of the dentition, Deep anterior chamber, Microspheropha... |
OMIM:251750 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Epicanthus, Telecanthus, Genu valgum, Joint hyperflexibility, Hypoplasia o... |
ORPHA:1778 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Microcornea, Abnormal... |
ORPHA:2710 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, Ectopia lentis, Abno... |
ORPHA:2092 |
Chime Syndrome |
|
Epicanthus, Corneal opacity, Abnormal dental morphology, Abnormality of the dentition, Supernumer... |
ORPHA:3474 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hyperc... |
OMIM:601678 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Juvenile cataract, Hy... |
ORPHA:221008 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Cataract, Joint stiffness, Hypoplasia of the ma... |
ORPHA:2588 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, H... |
ORPHA:95409 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Natal tooth, Cataract, Carious teeth, Developmental cataract, Neutropenia, Eclabion,... |
OMIM:616395 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Microd... |
OMIM:268400 |
Mandibulofacial Dysostosis With Alopecia |
|
Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Malar flatte... |
OMIM:241310 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Abnorm... |
OMIM:241200 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Epicanthus, Telecanthus, Palpebral edema, Cataract, Congestive heart failu... |
OMIM:181270 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Hypoplasia of the maxilla, Flexion contracture, High palate, Scoliosis, Ptosis |
OMIM:218000 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Opacification of the corneal stroma |
ORPHA:1643 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Micrognathia, Hematochezia, Hypoalbuminemia, Hypocalcemia, Hy... |
OMIM:618183 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Epicanthus, Delayed eruption of teeth, A... |
ORPHA:96263 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Dental crowding, Kyphoscoliosis, Micrognathi... |
ORPHA:97360 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Hyperbiliru... |
OMIM:614886 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Accelerated skeletal maturation, Hy... |
ORPHA:950 |
Srd5A3-Cdg |
|
Cataract, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Coloboma, Oligodontia |
ORPHA:324737 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Kabuki Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial cleft, Microcornea, Coloboma, Hig... |
ORPHA:2322 |
Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth, Overweight, Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Cachexia, Scl... |
ORPHA:649 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Joint laxity, Epicanthus, Wide cranial sutures, Sacral dimple, Tented upper lip vermi... |
OMIM:615546 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, Contracture... |
OMIM:300166 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, High, narrow palate, Leukocoria, Cleft palate, Microphthalmia, Joint hypermobility |
ORPHA:2714 |
Oculopalatocerebral Syndrome |
|
Microphthalmia, Leukocoria, Cleft palate |
OMIM:257910 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Abnormal pupil morphology, Os... |
ORPHA:286 |
Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio... |
OMIM:615109 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Epicanthus, Thin bony cortex, Enlargement of the ankles, Recurrent fra... |
OMIM:277440 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Pulmonic stenosis, ... |
OMIM:608149 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Iris atrophy, Long eyebrows, Cleft upper lip, Cleft palate, Wide mouth, Ol... |
OMIM:201180 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Recurrent respiratory infections, Delayed eruption of teeth, Ivory epiphyses of the d... |
OMIM:190350 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Micrognathia, Carious teeth, Retrognathia, Re... |
OMIM:613026 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Synophrys, Lens coloboma, Microcornea, ... |
OMIM:619539 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature l... |
OMIM:102500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Recurrent respiratory infections, Smooth philtrum, Thin upper lip vermilio... |
OMIM:300534 |
Rodrigues Blindness |
|
Microcornea, Microphthalmia, Tooth malposition, Sclerocornea |
OMIM:268320 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Telecanthus, Epicanthus, Recurrent ear infections, Hypoplasia o... |
ORPHA:251061 |
Mohr Syndrome |
|
Telecanthus, Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:252100 |
Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Levator palpebrae superioris atrophy, Anisocoria, Congenital fibrosis of extraocular mu... |
ORPHA:45358 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Abnormality of skin pigmentation, Hyperkalemia |
OMIM:240200 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Abnormality of s... |
ORPHA:2556 |
Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ... |
OMIM:265800 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Glos... |
ORPHA:93346 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Pancytopenia, Increased bone mineral density, Osteomyeli... |
OMIM:259700 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Kyphoscoliosis, Cleft u... |
OMIM:601701 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Carious teeth, Conjunctivitis, Enamel hypo... |
OMIM:612843 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Camptodactyly of ... |
ORPHA:1106 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger, Microdon... |
OMIM:164200 |
Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Recurrent infections, Furrowed tongu... |
OMIM:158350 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Orthostatic hypotension, Hypercalcemia, Thiamine-responsive mega... |
ORPHA:85138 |
Gomez-Lopez-Hernandez Syndrome |
|
Craniosynostosis, Thin vermilion border, High palate, Opacification of the corneal stroma, Wormia... |
OMIM:601853 |
1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei, Submucous cleft hard palate, Abnormality iris morphology, ... |
ORPHA:250999 |
Chops Syndrome |
|
Cataract, High, narrow palate, Synophrys, Optic atrophy, Obesity, Downturned corners of mouth, Lo... |
OMIM:616368 |
Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Epicanthus, Telecanthus, Congenital hip dislocation, Ovoid vertebral bodies, T... |
OMIM:244450 |
Revesz Syndrome |
|
Aplastic anemia, Leukocoria, Fine, reticulate skin pigmentation, Oral leukoplakia, Megalocornea |
OMIM:268130 |
Mucopolysaccharidosis Type 3 |
|
Synophrys, Flexion contracture, Atrioventricular block, Abnormal form of the vertebral bodies, Re... |
ORPHA:581 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Small for gestational age, Micrognathia, Hypoplasia of the iris, Wide mouth... |
OMIM:251300 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contractu... |
OMIM:263650 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Redu... |
ORPHA:324 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Miller Fisher Syndrome |
|
Anisocoria, Mydriasis, Ptosis |
ORPHA:98919 |
Neurooculocardiogenitourinary Syndrome |
|
Epicanthus, Tricuspid regurgitation, Downturned corners of mouth, Coloboma, Peters anomaly, Micro... |
OMIM:618652 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Spotty hypopigmentation, Heart murmur, Hyperpigmentation of the skin |
ORPHA:1867 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm... |
ORPHA:2273 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Neutro... |
OMIM:105650 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Epicanthus, Craniosynostosis, Hyperlordosis, Hypoplasia of the m... |
ORPHA:794 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of pr... |
ORPHA:2908 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal... |
OMIM:602535 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Hypoplasia of the maxilla, Thick lower lip ve... |
ORPHA:293939 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Telecanthus, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow disloc... |
ORPHA:2462 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Telecanthus, Genu recurvatum, Joint hypermobility, Craniosynostosis, Mi... |
OMIM:182212 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Camptodactyly of finger, Absent eyelashes, Hypoplasi... |
ORPHA:920 |
Keipert Syndrome |
|
Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Hypoplasia of the maxilla, Ptosis |
ORPHA:2662 |
Intestinal Botulism |
|
Mydriasis, Ptosis |
ORPHA:178481 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Acute leukemia |
ORPHA:281090 |
Toxin-Mediated Infectious Botulism |
|
Mydriasis, Ptosis |
ORPHA:230800 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Synophrys, Downturned corners of mo... |
ORPHA:1299 |
Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Conical tooth, Sparse eyebrow, Hypoplasia of the maxil... |
OMIM:129400 |
Trichinellosis |
|
Trismus, Retinal hemorrhage, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjunctival h... |
ORPHA:863 |
Nablus Mask-Like Facial Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Telecanthus, Sparse eyelashes, Highly arched eyebrow, ... |
OMIM:608156 |
Fryns Syndrome |
|
Tented upper lip vermilion, Corneal opacity, Median cleft lip, Micrognathia, Short neck, Non-midl... |
ORPHA:2059 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Micrognathia, Leukocoria, Orofacial cleft, Reduced bone mineral densi... |
ORPHA:1556 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Persistence of primary teeth, Carious teeth, Delayed skeletal mat... |
ORPHA:93325 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Wormian bones, Platyspondyly, Opacification of the corneal stroma |
OMIM:601356 |
Branchio-Oculo-Facial Syndrome |
|
Cataract, Upper lip pit, Deep philtrum, Non-midline cleft lip, Nasolacrimal duct obstruction, Oro... |
ORPHA:1297 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Hyperkalemia |
OMIM:145260 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Short neck, Sparse eyebrow, Micrognat... |
ORPHA:495875 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Generalized bone demineralization, Small for gestational age, Opacification of the corneal stroma... |
OMIM:215250 |
Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Cleft palate, Microcornea, Wide mou... |
OMIM:243605 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Cataract, Optic nerve hypoplasia, Cleft palate, Microcornea, Coloboma, Microphthalmia |
OMIM:610125 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion... |
ORPHA:666 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Bone-marrow foam cells, Hypersplenism, Vacuolated l... |
ORPHA:275761 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Micrognathia, Hip dislocation, Cleft palate, Fused cervical ve... |
ORPHA:3320 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Absent eyebrow, Hemolytic anemia, Erythrodontia, Hyperpigmentation of the skin, Splen... |
OMIM:263700 |
Wound Botulism |
|
Mydriasis, Cardiac arrest, Ptosis |
ORPHA:178475 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypertension, Hypokalemia, Increased circ... |
ORPHA:89938 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Carious teeth, Narrow mouth, Corneal erosion, Flexion contracture, Dilated ... |
ORPHA:89842 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Cataract, Micrognathia, Brushfield spots, Cubitus valgus, Delayed skeletal maturation... |
OMIM:214100 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract... |
OMIM:259710 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... |
ORPHA:427 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis, Cleft palate |
OMIM:302905 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Anisocoria, Downturned corners of mouth, Short philtrum, Ptosis |
OMIM:615510 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Sacral dimple, Dental crowding, Sclerocornea, Craniosynostosis, Micr... |
OMIM:600920 |
Pituitary Apoplexy |
|
Hyponatremia, Ptosis, Hypertension, Normochromic anemia, Hypotension, Mydriasis |
ORPHA:95613 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Hypoplasia of th... |
ORPHA:306542 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
Dubowitz Syndrome |
|
Aplastic anemia, Micrognathia, Hypoplasia of the iris, High palate, Hypocholesterolemia, Megaloco... |
OMIM:223370 |
Dyschondrosteosis-Nephritis Syndrome |
|
Microdontia, Corneal opacity, Madelung deformity |
ORPHA:1765 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Congenital hip dislocation, Bundle branch bl... |
ORPHA:373 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal nasolacrimal system morphology, Corneal opacity, Abnormal eye... |
ORPHA:2396 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis, Ptosis |
ORPHA:254509 |
Charcot-Marie-Tooth Disease Type 4C |
|
Neuropathic spinal arthropathy, Tongue atrophy, Anisocoria, Tongue fasciculations, Scoliosis, Dif... |
ORPHA:99949 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Thin upper lip vermilion, Highly arched eyebrow, Diastema, Bilateral ptosis, Synophrys, Downturne... |
ORPHA:329224 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Micrognath... |
ORPHA:904 |
Mosaic Trisomy 1 |
|
Microretrognathia, Thoracic scoliosis, Camptodactyly of finger, Thick lower lip vermilion, Elbow ... |
ORPHA:1692 |
Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Microcoria, Uveal ectropion, Retinal he... |
OMIM:609049 |
Gaucher Disease |
|
Osteopenia, Joint dislocation, Elevated circulating C-reactive protein concentration, Osteoarthri... |
ORPHA:355 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of... |
OMIM:607812 |
Facial Clefting, Oblique, 1 |
|
Microphthalmia, Coloboma, Cleft palate, Cleft upper lip |
OMIM:600251 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Micrognathia, Osteolysis, Cleft pala... |
ORPHA:1052 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Micrognathia, Conjugated hyperbilirubinemia, High palate, Tr... |
OMIM:614866 |
Witteveen-Kolk Syndrome |
|
High, narrow palate, Anisocoria, Intracranial hemorrhage, Short philtrum, High palate, Shallow or... |
OMIM:613406 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal vertebral morphology, Papilledema, Abnormal dental morphology, Recu... |
ORPHA:217085 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Optic atrophy, Hypoplasia of teeth, Microcornea, Keratoconjunctivit... |
OMIM:234050 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T... |
ORPHA:238468 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:614736 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft ... |
ORPHA:79113 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Micrognathia, Hypoplasia of the maxilla, Lower eyelid colobo... |
OMIM:616462 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Abnormal pupil morphology, F... |
ORPHA:261552 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Humeroradial synostosis, High ... |
OMIM:101600 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Short neck, Micrognathia, Kyphosis, Hemivertebrae, Hip dislocat... |
ORPHA:958 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Cataract, Splenomegaly, Cleft lip, High palate, Opacification of the corneal s... |
OMIM:251290 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Elb... |
OMIM:148210 |
Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology, Joint contracture of the hand |
ORPHA:90658 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Abno... |
ORPHA:1786 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal vertebral morphology, Papilledema, Abnormal dental morphology, Recu... |
ORPHA:217093 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Chorioretinal colob... |
OMIM:212550 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short neck, Dacryocystitis, Obesity, Patellar hypoplasia, Gingival overgrowth, Coloboma, Thin ver... |
ORPHA:464288 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Neut... |
ORPHA:124 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae, Spina bifida occulta, Butter... |
OMIM:619227 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos... |
OMIM:101200 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, High palate, Camptodactyly of finger |
ORPHA:85279 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Lower eyelid coloboma, Cleft palate, Hypoplasia of the zygomatic bone, Malar flatte... |
OMIM:248390 |
Ritscher-Schinzel Syndrome 1 |
|
Micrognathia, Hemivertebrae, Cleft palate, Coloboma, Pulmonic stenosis, Aortic valve stenosis, Do... |
OMIM:220210 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth, D... |
ORPHA:93400 |
Nephronophthisis 11 |
|
Anisocoria, Anemia |
OMIM:613550 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Failure to thrive, Corneal opacity, ... |
ORPHA:464311 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Advanced eruption ... |
ORPHA:818 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Deep philtrum |
ORPHA:289483 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Hig... |
OMIM:224690 |
Tangier Disease |
|
Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,... |
ORPHA:31150 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Tarsal synostosis, Hypoplasia of the maxilla, Microglossia, Cleft palate, High... |
ORPHA:1307 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia |
ORPHA:99845 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Decreased body weight |
ORPHA:93945 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Papilledema, Abnormality of retinal pigmentation, Corneal opaci... |
ORPHA:580 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Smooth tongue, Pursed lips, ... |
OMIM:601559 |
Holoprosencephaly |
|
Short neck, Synophrys, Deep philtrum, Abnormal form of the vertebral bodies, Chorioretinal colobo... |
ORPHA:2162 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Hyperkalemia, Weight loss, Hypotension, Hypertrophic... |
ORPHA:361 |
Nephronophthisis 2 |
|
Hypertension, Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia |
OMIM:602088 |
Multiple Sulfatase Deficiency |
|
Hypoplastic vertebral bodies, Corneal opacity, Retinal degeneration |
OMIM:272200 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Hyperkalem... |
ORPHA:340 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Kyphoscoliosis, Kyphosis, Phthisis bulbi... |
OMIM:259770 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Mydriasis |
ORPHA:247815 |
Craniotubular Dysplasia, Ikegawa Type |
|
Epicanthus, Increased intervertebral space, Phthisis bulbi, Thick lower lip vermilion, Sclerosis ... |
OMIM:619727 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Olmsted Syndrome 1 |
|
Flexion contracture, Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Albinism, Periodontitis, Neutropenia, Decreased CD4:CD8 ratio, He... |
OMIM:608233 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Abnormal vertebr... |
ORPHA:444077 |
Foodborne Botulism |
|
Arrhythmia, Mydriasis, Ptosis |
ORPHA:228371 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding,... |
OMIM:309520 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology, Ptosis |
ORPHA:1540 |
Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid, ... |
OMIM:613001 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae |
OMIM:271520 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Inhalational Botulism |
|
Mydriasis, Ptosis |
ORPHA:254504 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmenta... |
OMIM:133540 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Short neck, Micrognathia, Synophrys, Epicanthus inversus, Microdontia... |
OMIM:613458 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Recurrent sinu... |
ORPHA:293978 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Conjunctival whitish salt-like deposits, Hyperostosis, Subperiosteal bone formation, ... |
OMIM:211900 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Entropion, Cataract, Hypermelanotic macul... |
ORPHA:910 |
Neurofibromatosis Type 1 |
|
Abnormal eyelid morphology, Chorioretinal coloboma, Heterochromia iridis, Genu varum, Scoliosis, ... |
ORPHA:636 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Distal 17P13.1 Microdeletion Syndrome |
|
Limited elbow movement, Generalized joint laxity, Hypoplasia of the zygomatic bone, High palate, ... |
ORPHA:319171 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Failure to thrive, Hy... |
ORPHA:90791 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Delayed skeletal maturation, Hyperkalemia, Osteoporo... |
ORPHA:168558 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Malar flattening, Cleft upper lip, Ankyloblepharon, Orofacial cleft, Micro... |
OMIM:229400 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Eosinophilia, Micrognathia, Leukocytosis, Patellar aplasia, Genu varum... |
OMIM:274000 |
Carpenter Syndrome |
|
Kyphoscoliosis, Craniosynostosis, Obesity, Genu valgum, Abnormal cornea morphology |
ORPHA:65759 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, Coloboma, High p... |
ORPHA:251028 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Leukopenia, Erythroid hyp... |
ORPHA:79277 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Submucous cleft hard palate, Cleft palate, Microcornea, Ecto... |
OMIM:235730 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Corneal crystals, Pigmentary retinopathy, Hypokalemia,... |
ORPHA:411629 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Cataract, Congenital hip dislocation, Micrognathia, Splenom... |
OMIM:617913 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Generalized hyperpigmentation, Delayed skeletal maturation, Hyperkalemia, Osteoporo... |
ORPHA:289548 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion |
ORPHA:411777 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Short p... |
OMIM:619142 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss... |
OMIM:146300 |
Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Epicanthus, Telecanthus, Tarsal synostosis, Delayed skeletal maturation, Upslanted ... |
OMIM:157800 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Hypoplasia of the maxilla, Cleft palate, Failure to thrive, Ptosis |
OMIM:614261 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Blepharophimosis, Hypoplasia of the maxilla, Micrognathia, Cleft upper lip, Hemi... |
OMIM:164210 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level |
OMIM:614492 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Short neck, Recurrent infections, Upslanted palpebral fissure, Coloboma, Macroglossia, Wide mouth... |
OMIM:616789 |
Ramos-Arroyo Syndrome |
|
Keratitis, Dacryocystitis, Carious teeth, Narrow mouth, Chorioretinal atrophy, Nasolacrimal duct ... |
ORPHA:1051 |
Joubert Syndrome 14 |
|
Epicanthus, Tented upper lip vermilion, Highly arched eyebrow, Malar flattening, Optic atrophy, C... |
OMIM:614424 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Increased... |
ORPHA:90041 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Leukocoria, Telangiectasia |
OMIM:219250 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Epicanthus, Kyphoscoliosis, Protruding tongue, Absent frontal sinuses, Kyp... |
OMIM:301040 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Camptodactyly of finger, Premature loss of primary teeth, Abnormality... |
ORPHA:2907 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... |
OMIM:618849 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Erythrodontia, Abnormal circulating porphyrin concentration, Spleno... |
ORPHA:95159 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Sparse eyelashes, Hyperpigmentation of the skin, Carious teeth, Os... |
OMIM:224230 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, Microcornea, H... |
ORPHA:536467 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Corneal dystrophy, Hypoplasia of ... |
ORPHA:2673 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Deep philtrum, Pierre-Robin seque... |
OMIM:617137 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Osteoporosis, Scoliosis, D... |
OMIM:615273 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria, Orthostatic hypotension, Hyperpigmentation of the skin |
OMIM:231550 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Epicanthus, Transient ischemic attack, Short neck, Hyperpigment... |
OMIM:600268 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Lip discoloration, Small for gestational age |
ORPHA:621 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori... |
ORPHA:790 |
Coats Disease |
|
Leukocoria, Retinal telangiectasia |
OMIM:300216 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Corneal opacity, Small for ... |
ORPHA:464306 |
Thakker-Donnai Syndrome |
|
Short neck, Hemivertebrae, Upslanted palpebral fissure, Downturned corners of mouth, Narrow mouth... |
ORPHA:1780 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, Cleft palate, Hy... |
ORPHA:83 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Opacification of the corne... |
ORPHA:425 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Optic atrophy, Coloboma, Microphthalmia, Failure to thrive |
OMIM:612379 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Elbow dislocation, Kyphosis, Carious teeth, Abnormal ... |
ORPHA:2769 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, High ... |
OMIM:617140 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Thin upper lip vermilion, Telecanthus, Joint stiffness, Synophrys, Genu valgum, Hypoplasia of the... |
ORPHA:1295 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Cardiofaciocutaneous Syndrome |
|
Epicanthus, Failure to thrive in infancy, Short neck, Abnormal eyelash morphology, Submucous clef... |
ORPHA:1340 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Cataract, Telecanthus, Macrodontia, ... |
OMIM:309500 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Telecanthus, Delayed eruption of teeth, Camptodactyly of finge... |
OMIM:166250 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla |
OMIM:300266 |
Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Elbow dislocation, Micrognathia, Cleft palate, Knee dislocati... |
OMIM:108720 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614495 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Failure to thrive, Rickets |
OMIM:602722 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Epicanthus, Tracheomalacia, Micrognathia, Hypoplasia of the maxi... |
ORPHA:314679 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Small for gestational age, De... |
ORPHA:330015 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Smooth philtrum, Epicanthus, Lumbar hyperlordosis, Micrognathia, Cleft lip, Optic atrophy, Furrow... |
OMIM:616975 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hypocalcemia, Hypomagnese... |
ORPHA:73224 |
Wilson Disease |
|
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ... |
OMIM:277900 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Synophrys, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum,... |
ORPHA:3455 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia, Hypertension |
OMIM:614496 |
Tyrosinemia Type 2 |
|
Malar flattening, Corneal opacity |
ORPHA:28378 |
Apparent Mineralocorticoid Excess |
|
Small for gestational age, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating re... |
OMIM:218030 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Joint stiffness, Shallow anterior chamber, Posterior synechiae of t... |
OMIM:613195 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Osteomyelitis, Neuropathic arthropathy, Kerat... |
OMIM:256800 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Joint laxity, Aortic regurgitation, Genu recurvatum, Corneal opacity, Congestive hear... |
ORPHA:90348 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Epicanthus, Short neck, Delayed skeletal maturation, Optic atrophy, Thin vermilion border, Hypopl... |
OMIM:614800 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Small for gestational age, Sclerocornea, Sparse eyebrow, Retrognathia, Narrow palpebral... |
OMIM:619869 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Conical tooth, Carious teeth, Lacrimal duct atresia, Lacrimal duct aplas... |
OMIM:620192 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Avascular necrosis, Failure to thrive, Hyperpigmentation of the skin |
ORPHA:90790 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Ge... |
OMIM:620099 |
Cleft Velum |
|
Recurrent otitis media, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
X-Linked Mandibulofacial Dysostosis |
|
Epicanthus, Micrognathia, Hypoplasia of the zygomatic bone, High palate, Pulmonic stenosis, Downs... |
ORPHA:1131 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of middle ear ossicl... |
OMIM:613717 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Patellar a... |
OMIM:613804 |
Peters Plus Syndrome |
|
Short neck, Micrognathia, Microcornea, Widely spaced teeth, Spina bifida occulta, Iris coloboma, ... |
ORPHA:709 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Epicanthus, Short neck, Micrognathia, Carious teeth, Synophrys, Microdo... |
OMIM:616734 |
Yunis-Varon Syndrome |
|
Sclerocornea, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh... |
ORPHA:3472 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Small for gestational age, Ectopia lentis, Micrognathia, H... |
ORPHA:284979 |
Liddle Syndrome |
|
Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Cardiac conduction abnormality, Downturned corners of mouth, Cardiomyopa... |
ORPHA:2131 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Coloboma, Scoliosis |
OMIM:601357 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Osteomalacia,... |
OMIM:309000 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Sparse eyelashes, Micrognathia, Sp... |
OMIM:209885 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Cataract, Retinal atrophy, Delayed eruption of primary te... |
OMIM:216400 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Delayed skeletal maturation, Elevated circulating creatinine concentr... |
ORPHA:411634 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Submucous cleft hard palate, ... |
OMIM:157170 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Hyperkalemia, Ventricular tachycardia, Premature ventricula... |
ORPHA:423 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Epicanthus, Sacral dimple, Intraventricular hemorrhage,... |
OMIM:613603 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplasia of the maxilla, Eruption failure, Joint subluxation, Decreased body weight... |
OMIM:182250 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Optic atrophy, Narrow palate, Cleft palate, Tooth agenesis, Hypertension, Hypop... |
ORPHA:1555 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxil... |
OMIM:261540 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplastic sacrum, Sparse eyelashes, Lacrimal duct stenosis, Malar flattening, Absence of Stense... |
OMIM:604292 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Weight loss, Reduced bo... |
OMIM:619377 |
Toluene Embryopathy |
|
Epicanthus, Micrognathia, Thin vermilion border, Hypoplasia of the zygomatic bone, Short palpebra... |
ORPHA:1920 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka... |
ORPHA:31826 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Hypoplasia of the maxilla, Delayed skel... |
OMIM:613805 |
Arachnoid Cyst |
|
Back pain, Ptosis, Subarachnoid hemorrhage, Sciatica, Lower limb pain, Mydriasis |
ORPHA:2356 |
Bosma Arhinia Microphthalmia Syndrome |
|
Cataract, Paranasal sinus hypoplasia, Cleft lip, Synophrys, Lacrimal duct atresia, Dental maloccl... |
OMIM:603457 |
Prolidase Deficiency |
|
Recurrent respiratory infections, Recurrent cystitis, Abnormality of retinal pigmentation, Microg... |
ORPHA:742 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... |
ORPHA:466677 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... |
ORPHA:1578 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Flexion contracture, Reduced bone mineral density, Knee fle... |
OMIM:259050 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Epicanthus, Telecanthus, Tented upper lip vermilion, Abnormal hemoglobin, Joint stiffness, Abnorm... |
ORPHA:847 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Mandibular prognathia, Aortic regurgitation, Entropion, Dental crowding, Tricuspid ... |
OMIM:617402 |
Digeorge Syndrome |
|
Sclerocornea, Micrognathia, High, narrow palate, Hypoplasia of the thymus, Hypocalcemia, High pal... |
OMIM:188400 |
Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis, Ptosis |
ORPHA:79138 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Severe B lymphocytopenia, Micrognathia, Contracture of the distal interphalangeal joi... |
ORPHA:83617 |
Botulism |
|
Arrhythmia, Mydriasis |
ORPHA:1267 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Recurrent respiratory infections, Prominent metopic ridge, Retinal atrophy, Ul... |
ORPHA:97297 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Microphthalmia, Heteroc... |
ORPHA:42775 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Cachexia, Abnormality of the spl... |
ORPHA:2072 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Myocarditis, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:544482 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Abnormal dental enamel morphology, Abnormal eyelid morphology, Cleft palate, Hypoplas... |
ORPHA:1812 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Cleft palate, Pigmentary retinopathy, Pet... |
OMIM:309801 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... |
ORPHA:90068 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Telecanthus, Sparse eyelashes, Absence of Stensen duct, Malar flattening, Selective tooth agenesi... |
OMIM:129900 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Coloboma, Vertebral segmentation de... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Coloboma, Vertebral segmentation de... |
ORPHA:352665 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Ankle flexion contracture, Short neck, Craniosynostosis, Micrognathia,... |
OMIM:268300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Retinal atrophy, Micrognathia, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the ... |
OMIM:253280 |
Superficial Siderosis |
|
Anisocoria, Back pain, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Osteoporosis, Obesity, Hypertension, Abdominal obesity, Hypokalemia, Biconcave vertebra... |
OMIM:219090 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Promin... |
OMIM:200990 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi... |
OMIM:179800 |
Fraser Syndrome 1 |
|
Absent eyebrow, Corneal opacity, Dental crowding, Cleft upper lip, Absent eyelashes, Bilateral mi... |
OMIM:219000 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Abnormal dental enamel... |
ORPHA:2750 |
Greenberg Dysplasia |
|
Recurrent fractures, Micrognathia, Multiple prenatal fractures, Costal cartilage calcification, P... |
OMIM:215140 |
Cockayne Syndrome |
|
Congenital contracture, Lentiglobus, Retinal degeneration, Retinal atrophy, Abnormal dental morph... |
ORPHA:191 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... |
ORPHA:466650 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Abnormality of retinal pigmentation, Nongranulomatous uveitis, Anterior uveiti... |
ORPHA:91500 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypertension, Hypokalemia, Anemia |
OMIM:611489 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Cleft palate, Furrowed tongue, Downturned ... |
ORPHA:453499 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Phthisis bulbi, Flat cornea, Ptosis |
OMIM:618283 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Ovoid vertebral bodies, Thromboc... |
OMIM:260400 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension, Mydriasis |
ORPHA:43116 |
Limb Body Wall Complex |
|
Corneal opacity, Cleft lip, Cleft palate, Abnormality of the vertebral column, Lens subluxation, ... |
ORPHA:2369 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Lower limb pain, Carious teeth, Diaphyseal... |
OMIM:131300 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Proximal Renal Tubular Acidosis |
|
Cataract, Band keratopathy, Enamel hypomineralization, Bicarbonaturia, Hypovolemia, Reduced bone ... |
ORPHA:47159 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminem... |
ORPHA:99826 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Tachycardia, Weight loss |
OMIM:613239 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the tongue, ... |
ORPHA:564 |
Saethre-Chotzen Syndrome |
|
Abnormal nasolacrimal system morphology, Hypoplasia of the maxilla, Cleft of chin, Narrow palate,... |
OMIM:101400 |
Charge Syndrome |
|
Delayed eruption of teeth, Epicanthus, Highly arched eyebrow, Cleft upper lip, Abnormal soft pala... |
ORPHA:138 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Micrognathia, Elbow dislocation, Hypoplasia of the max... |
ORPHA:2554 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Small for gestational age, Tarsal synostosis, Craniosynostosis, Humeroradial synost... |
OMIM:201750 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Iris flocculi |
OMIM:611788 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Bifid uvul... |
ORPHA:500150 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Choroidal neovascularization, Recurrent fractures, Abnormality of the dentition, H... |
ORPHA:416 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Short neck, Large for gestational age, Microgn... |
ORPHA:96334 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Fryns Syndrome |
|
Microretrognathia, Tented upper lip vermilion, Large for gestational age, Short neck, Cleft upper... |
OMIM:229850 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Sparse eyelashes, Abnormal oral mucosa morphology, C... |
OMIM:305100 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening, Telecanthus, Downslanted palpebral fissures |
OMIM:122880 |
Retinoblastoma |
|
Vitreous hemorrhage, Leukemia, Leukocoria, Cleft palate |
OMIM:180200 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, High, narrow palate, Hy... |
ORPHA:91387 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Abnormality of the cervica... |
ORPHA:353281 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase, Impaired myocardial contractility |
ORPHA:681 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Delayed skeletal maturation... |
ORPHA:769 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Micrognathia, Orbital cyst, Retrognathia, Cleft palate, Microcornea, Coloboma, High... |
OMIM:607932 |
Tempi Syndrome |
|
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia |
ORPHA:284227 |
Autoimmune Polyendocrinopathy Type 1 |
|
Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hypoplasia of the maxilla,... |
OMIM:610829 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Hypoplasia of the zygomatic bone, Long philtrum |
ORPHA:3074 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Abnormal circulating selenium concent... |
ORPHA:79408 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteoarthritis, Generalized joint laxity,... |
ORPHA:287 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia |
OMIM:605635 |
Distal Deletion 19P |
|
Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short philtrum, Thick eyebrow |
ORPHA:96129 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, Coloboma, High palate,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, Coloboma, High palate,... |
ORPHA:353277 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Rickets, Osteomalacia |
OMIM:267200 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased ... |
OMIM:227810 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia |
OMIM:174900 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Rickets, Corneal crystals |
OMIM:219900 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Floating-Harbor Syndrome |
|
Enlarged joints, Small for gestational age, Kyphoscoliosis, Short neck, Avascular necrosis of the... |
ORPHA:2044 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Sparse eyelashes, Hyperpigmentation of the skin, ... |
OMIM:305000 |
Collagenoma, Familial Cutaneous |
|
Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con... |
OMIM:115250 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Syno... |
OMIM:610828 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Micrognathia, Coloboma, Downslanted palpebral fissures, Ptosis |
OMIM:606851 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Kindler Syndrome |
|
Telangiectasia of the skin, Symblepharon, Carious teeth, Corneal erosion, Spotty hypopigmentation... |
OMIM:173650 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Coloboma, ... |
OMIM:619475 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive |
OMIM:214700 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Prominent median palatal raphe, Coloboma, Torus palatinus, Solitary median maxil... |
OMIM:147250 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Papilledema, Prominent metopic ridge, Delayed eruption of teeth, Dental cr... |
OMIM:614188 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:320 |
Cornelia De Lange Syndrome |
|
Short neck, Micrognathia, Synophrys, Microcornea, Downturned corners of mouth, Widely spaced teet... |
ORPHA:199 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Shock, Accelerated skeletal maturation, Hyperkalemia, Hypovolemia, Weight loss, Hyp... |
ORPHA:90794 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Accelerated skeletal maturation, Hyperlipidemia, Hyperkalemia, Obesity, Everted low... |
ORPHA:293987 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Sclerocornea, Micrognathia,... |
OMIM:216340 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Micrognathia, Narrow palpebral fissure, High palate, Bradycardia, P... |
OMIM:614437 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ... |
ORPHA:99867 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis |
ORPHA:403 |
Plague |
|
Chapped lip, Tachycardia, Hematemesis, Splenomegaly, Abnormality of the elbow, Arthritis, Hypoten... |
ORPHA:707 |
Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Pulmonic stenosis, Mitral ste... |
OMIM:306955 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Pulmonary arterial hypertension, Mydriasis |
OMIM:613834 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... |
ORPHA:231625 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Bone pain, Reduced bone mineral density, Increased susce... |
ORPHA:18 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Conical incisor, Conjunctivitis, Microdontia, Corneal perforation, Hypop... |
OMIM:149730 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Hypokalemia, Epistaxis |
ORPHA:404 |
Liddle Syndrome 1 |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia |
ORPHA:251274 |
Hypoglossia-Hypodactyly Syndrome |
|
Telecanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, High palate, Hypoplasi... |
ORPHA:989 |
Acromelic Frontonasal Dysostosis |
|
Telecanthus, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cleft upper lip, Pa... |
OMIM:603671 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Hypoplasia of the maxilla, Mandibular prognathia |
ORPHA:3044 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Abnormal oral mucosa morphology, Dilated cardiomyopathy, Osteoporosis, Ab... |
ORPHA:79404 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss, Hypertension, Hypokalemia, Palpitations |
ORPHA:1501 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Coloboma, Odontogenic keratocysts of the jaw, Accelerated ... |
ORPHA:199276 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Second degree atrioventricular blo... |
ORPHA:369929 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo... |
ORPHA:173 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating al... |
OMIM:613095 |
Primary Unilateral Adrenal Hyperplasia |
|
Epistaxis, Hypertension, Hypokalemia, Palpitations, Decreased circulating renin level |
ORPHA:231580 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Choroidal neovascularization, Osteomalacia, Failure to thrive in infancy... |
ORPHA:51608 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Abnormal choroid morphology, Hy... |
OMIM:607364 |
Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Hypokalemia, Epistaxis, Decreased circulating renin level |
ORPHA:231632 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process... |
OMIM:300106 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Hypokalemia, Second degree atrioventricular block, Pulmonary arterial hypertension,... |
OMIM:615474 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
Mercury Poisoning |
|
Hypertension, Hypokalemia, Tachycardia, Hypotension |
ORPHA:330021 |
Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Ptosis |
OMIM:146500 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Supraventricular arrhythmia, Congestive heart failure, Osteoporosis, Weight loss, Hyp... |
ORPHA:91347 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Fanconi Anemia, Complementation Group C |
|
Intrauterine growth retardation, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Bidirectional shunt, Elevated pulmonary artery pressure, Mydriasis |
OMIM:619351 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:613090 |
Neurooculorenal Syndrome |
|
Iris atrophy, Highly arched eyebrow, Micrognathia, Conjugated hyperbilirubinemia, Broad philtrum |
OMIM:620305 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Accelerated skeletal maturation, Intracranial hemorrhage, Hypertension, Hypokalemia, Hyperpigment... |
ORPHA:90795 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Prolonged G2 phase of cell cycle |
OMIM:227646 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Bone pain, Weight loss, Hypophosphatemia, Increased s... |
ORPHA:3337 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Mitral stenosis, Opacification of the corneal stroma |
OMIM:231005 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed skeletal maturation, Hypertension, Hypokalemia, Failure to thrive, Decreased circulating ... |
ORPHA:90793 |
Fanconi Anemia, Complementation Group E |
|
Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Prolonged G2 phase of cell cycle |
OMIM:227650 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla, Dislocated radial head |
ORPHA:2975 |
Charge Syndrome |
|
Cataract, Malar flattening, Micrognathia, Cleft upper lip, Radial head subluxation, Hemivertebrae... |
OMIM:214800 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Thick vermilio... |
ORPHA:79280 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Absent eyelashes, Short upper lip, Wide mouth, ... |
OMIM:200110 |
Vipoma |
|
Hypercalcemia, Weight loss, Hematochezia, Hypokalemia, Normochromic anemia |
ORPHA:97282 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Full Nf2-Related Schwannomatosis |
|
Retinal hamartoma, Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Corti... |
ORPHA:637 |
Nelson Syndrome |
|
Generalized hyperpigmentation, Intracranial hemorrhage, Hypertension, Abnormality of the sphenoid... |
ORPHA:199244 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Accelerated skeletal maturation, Hypertension, Hypokalemia, Hyperpigmentation of the skin, Decrea... |
OMIM:202010 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Epicanthus, Small for gestational age, Hypoplasia of the zygomatic bone, High palate, Long philtrum |
OMIM:618500 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive |
OMIM:602522 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoplasia of the zygomatic bone, High palate, Solitary median maxillary central incisor, Small f... |
ORPHA:556955 |
Leprechaunism |
|
Hypokalemia, Increased circulating renin level, Thick vermilion border, Decreased body weight, Hy... |
ORPHA:508 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia, Failure to thrive |
OMIM:618426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
Generalized Glucocorticoid Resistance Syndrome |
|
Hypertension, Hypokalemia |
ORPHA:786 |