Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Immunodeficiency 50 |
|
Lymphopenia, Eczema, Neutropenia |
OMIM:300988 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... |
OMIM:603165 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia |
OMIM:616022 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract, Hyperextensible skin |
ORPHA:35664 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Lattice corneal dystrophy, Cutis laxa |
OMIM:105120 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... |
OMIM:617585 |
Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia |
OMIM:162700 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Large for gestational age |
ORPHA:2432 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Keratoglobus, Abnormal cornea morphology, Blue sclerae, Decreased corneal thickness,... |
OMIM:229200 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia |
OMIM:300299 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia |
OMIM:602079 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Conjunctivitis, Neutropenia, Anemia |
OMIM:616740 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Blue sclerae, Heterochromia iridis |
ORPHA:66633 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Mevalonic Aciduria |
|
Cataract, Blue sclerae |
ORPHA:29 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Skin rash, Erythema, Weight loss, Dry skin |
ORPHA:317 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Eczema, Dry skin, Cutis laxa, Coloboma, Failure to thrive |
OMIM:612379 |
Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Corneal scarring, Keratoglobus, Hyperextensible skin, Blue sc... |
ORPHA:90354 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... |
OMIM:614172 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Neutropenia, Recurrent otitis media, Chronic sin... |
OMIM:613502 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Blue sclerae, Eczema |
ORPHA:2101 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thenar muscle atrophy, Flexion contracture, Hyperextensible skin, Blue sclerae, Failure to thrive |
ORPHA:157965 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Blue sclerae, Developmental cataract |
OMIM:259410 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Vernal Keratoconjunctivitis |
|
Abnormal sclera morphology, Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology... |
ORPHA:70476 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract, Bradycardia... |
OMIM:618815 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
Rahman Syndrome |
|
Astigmatism, Redundant skin, Camptodactyly |
OMIM:617537 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Corneal opacity, Excessive wrinkled skin, Abnormal cornea morphology, Blue sclerae, Hyperextensib... |
ORPHA:357058 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Osteoporosis-Pseudoglioma Syndrome |
|
Blue sclerae, Corneal opacity |
ORPHA:2788 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cataract, Blue sclerae |
ORPHA:2772 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cataract, Developmental glaucoma, Flexion contracture, Elbow flexion contracture, Cutis laxa, Exc... |
OMIM:614438 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Cutis laxa, Developmental cataract, Premature skin wrinkli... |
OMIM:616603 |
Mucolipidosis Type Iii |
|
Corneal opacity, Acne |
ORPHA:577 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Agel Amyloidosis |
|
Cataract, Facial palsy, Pruritus, Dry skin, Cutis laxa, Cardiomyopathy, Keratoconjunctivitis sicc... |
ORPHA:85448 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cataract, Cutis laxa, Distal amyotrophy, Corneal arcus, Hyperextensible skin, Failure to thrive |
OMIM:219150 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure, Redundant skin |
OMIM:301021 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Arterial rupture, Microcornea, Myopathy, Hyperextensible skin |
ORPHA:300179 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Telangiectasia, Blue sclerae, Axenfeld anomaly, Opacification of the co... |
OMIM:612582 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Alg8-Cdg |
|
Cataract, Small for gestational age, Cutis laxa, Macroglossia, Camptodactyly, Premature skin wrin... |
ORPHA:79325 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia... |
ORPHA:2688 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Tricuspid regurgitation, Patent ductus arteriosus, Cutis laxa, Microcorn... |
OMIM:614557 |
Microphthalmia, Isolated 6 |
|
Microcornea, Scleral thickening |
OMIM:613517 |
Whim Syndrome 1 |
|
Bronchiectasis, Neutropenia |
OMIM:193670 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hyperextensible skin, Distal lower li... |
OMIM:619764 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cataract, Blue sclerae |
OMIM:619286 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Neutropenia |
ORPHA:2643 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Pancytopenia, Impaired neutr... |
OMIM:618986 |
De Barsy Syndrome |
|
Decreased muscle mass, Cataract, Corneal opacity, Patent ductus arteriosus, Cutis laxa, Excessive... |
ORPHA:2962 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Aortic regurgitation, Congenital diaphragmatic hernia, Telangiectases of the cheeks,... |
OMIM:208050 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Hyperextensible skin, Blue sclerae, Arterial rupture, Dermal translucency |
OMIM:619120 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Small for gestational age, Ectopia lentis, Flexion contrac... |
ORPHA:284979 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Decreased muscle mass, Keratoglobus, Astigmatism, Firm muscles, Distal arthrogryposi... |
OMIM:108145 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Skin ulcer |
ORPHA:231 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Recurrent sinusitis, Absent circulating B cells |
OMIM:619707 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut... |
ORPHA:486 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Mitral regurgitation, Cutis laxa |
OMIM:614434 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:619220 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Soft skin, Hyperextensible skin, Blue sclerae, Ectopia lentis |
OMIM:130000 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula... |
ORPHA:163934 |
Costello Syndrome |
|
Keratoconus, Failure to thrive in infancy, Redundant skin, Lack of skin elasticity, Macroglossia,... |
ORPHA:3071 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Rafiq Syndrome |
|
Truncal obesity, Flexion contracture, Obesity, Cutis laxa |
OMIM:614202 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Elbow flexion contracture,... |
ORPHA:1900 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Telangiectasia of the skin, Camptodactyly of finger, Skin rash, Kerati... |
ORPHA:464 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Developmental Delay, Hypotonia, And Impaired Language |
|
Astigmatism, Recurrent pneumonia, Neutropenia |
OMIM:620012 |
Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Congenital diaphragmatic hernia, Developmental glaucoma, Blue sclerae, Megalocornea |
ORPHA:2409 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Decreased muscle mass, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Blue scl... |
OMIM:612940 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Hemochromatosis, Type 3 |
|
Arthritis, Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Axenfeld-Rieger Syndrome |
|
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology, Redu... |
ORPHA:782 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Pseudodiastrophic Dysplasia |
|
Failure to thrive, Blue sclerae, Camptodactyly |
OMIM:264180 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Recurrent skin infections, Redundant skin, Myopathy, Blue sclerae, Astigma... |
ORPHA:2953 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Coloboma, Blue sclerae, Eczema, Obesity |
ORPHA:464288 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Flexion contracture, Corneal opacity |
ORPHA:87876 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec... |
ORPHA:47 |
Congenital Rubella Syndrome |
|
Cataract, Corneal opacity, Skin rash, Patent ductus arteriosus, Aplasia/Hypoplasia of the iris |
ORPHA:290 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Thenar muscle atrophy, Hyperextensible skin, Blue sclerae, Joint contrac... |
OMIM:612350 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Hyperextensible skin, Blue sclerae, Arterial rupture, Dermal translucency |
OMIM:619115 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's... |
OMIM:619705 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture, Microcornea... |
OMIM:225400 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cutis laxa, Hyperextensible skin, Blue sclerae, Decreased body weight, Soft skin, Joint contractu... |
OMIM:615349 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu... |
OMIM:619752 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Cryptorchidism, Atrichia, ... |
ORPHA:1867 |
Chilblain Lupus 1 |
|
Raynaud phenomenon, Chilblains, Skin ulcer |
OMIM:610448 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
Mevalonic Aciduria |
|
Cataract, Failure to thrive in infancy, Skin rash, Nuclear cataract, Blue sclerae, Morbilliform r... |
OMIM:610377 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Harel-Yoon Syndrome |
|
Distal amyotrophy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic oral candidias... |
OMIM:615387 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Immunodeficiency 102 |
|
Recurrent skin infections, Autoimmune thrombocytopenia, Bronchiectasis, Increased proportion of C... |
OMIM:301082 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Skin ulc... |
ORPHA:90280 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Recurrent... |
OMIM:301078 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Decreased fertility, Opacification of the co... |
ORPHA:1643 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity, Congenital diaphragmatic hernia |
OMIM:166300 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... |
OMIM:614868 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased corneal thickness, Microcytic anemia |
ORPHA:293967 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Coloboma, Muscular dystrophy, Left ventricular hypertrophy |
OMIM:613153 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Failure to thrive, Blue sclerae, Congenital muscular torticollis |
ORPHA:52047 |
Hereditary Methemoglobinemia |
|
Blue sclerae, Small for gestational age |
ORPHA:621 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Corneal erosion, Optic disc coloboma, Cutis laxa |
OMIM:270420 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Cutis laxa, Hyperextensible skin, Pulmonic stenosis... |
ORPHA:75496 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, Optic neuritis, B ... |
OMIM:301081 |
Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin |
ORPHA:1779 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Neutrope... |
OMIM:304790 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract, Posterior staphyloma |
OMIM:619082 |
Laron Syndrome |
|
Blue sclerae |
OMIM:262500 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia, Iris hypopigmentation |
ORPHA:79477 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Skin ulcer |
ORPHA:2337 |
Recessive X-Linked Ichthyosis |
|
Dry skin, Opacification of the corneal stroma |
ORPHA:461 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Blue sclerae, Small for gestational age |
ORPHA:231137 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Cutis laxa, Mitral regur... |
OMIM:314400 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia, Cataract, Skin ulcer |
ORPHA:2047 |
Leukodystrophy, Hypomyelinating, 25 |
|
Blue sclerae |
OMIM:620243 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod... |
ORPHA:169154 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Erythroderma, Skin ulcer, Weight loss |
ORPHA:312 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Neutropenia, Recurren... |
OMIM:617475 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
EMG: myopathic abnormalities, Blue sclerae |
ORPHA:457365 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Mitral regurgitation, Blue sclerae, Facial hypotonia, Camptodactyly |
OMIM:615539 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Weight loss, Hypoplasia of the... |
ORPHA:3163 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Blue sclerae |
OMIM:617051 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Rhinitis, Corneal opacity |
ORPHA:93476 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Blue sclerae, Camptodactyly of finger |
ORPHA:1425 |
Pelger-Huet Anomaly |
|
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... |
OMIM:169400 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco... |
ORPHA:2686 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim... |
OMIM:614700 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity, Camptodactyly of finger |
ORPHA:2741 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, Hemophagocytosis... |
OMIM:308240 |
Diastrophic Dysplasia |
|
Hyperextensible skin, Blue sclerae, Camptodactyly of finger |
ORPHA:628 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Cutis laxa |
OMIM:614100 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Redundant skin |
ORPHA:251046 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Cutis laxa |
OMIM:301045 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Redundant skin, Congenital diaphragmatic hernia |
ORPHA:171719 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Synov... |
ORPHA:47612 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Pancreatitis, Anemia, Neutropenia |
ORPHA:289916 |
Microtriplication 11Q24.1 |
|
Keratoconus |
ORPHA:289522 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Corneal opacity |
OMIM:618961 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... |
ORPHA:443811 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Free Sialic Acid Storage Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Failure to thrive in infancy, Skin ulcer, I... |
ORPHA:834 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
Idiopathic Uveal Effusion Syndrome |
|
Superficial episcleral hyperemia, Abnormal anterior eye segment morphology, Abnormal sclera morph... |
ORPHA:209956 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Multiple joint contractures, Corneal opacity, Abnormal right hemidiaphragm mor... |
ORPHA:536471 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Corneal erosion, Blue sclerae, Megalocornea, Corneal ulceration, Limb hyper... |
OMIM:609460 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Congestive ... |
ORPHA:363705 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Skin ulcer, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Intrinsic hand muscle atrophy, Distal lower limb muscle weakness, Acral ulceration, Foot dorsifle... |
OMIM:614213 |
Periodontal Ehlers-Danlos Syndrome |
|
Hyperextensible skin |
ORPHA:75392 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Flexion contracture, Opacification of the corneal epithelium |
OMIM:270200 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Olmsted Syndrome 1 |
|
Pruritus, Flexion contracture, Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Fish-Eye Disease |
|
Splenomegaly, Corneal opacity |
ORPHA:79292 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Gout, Neutropenia |
OMIM:617056 |
Pontocerebellar Hypoplasia, Type 1F |
|
Blue sclerae |
OMIM:619304 |
Blau Syndrome |
|
Pericarditis, Cataract, Camptodactyly of finger, Eczema, Band keratopathy, Erythema nodosum, Skin... |
OMIM:186580 |
Fusariosis |
|
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... |
ORPHA:228119 |
Developmental And Epileptic Encephalopathy 66 |
|
Astigmatism, Anemia, Neutropenia |
OMIM:618067 |
Hallermann-Streiff Syndrome |
|
Cataract, Small for gestational age, Optic disc coloboma, Telangiectasia, Hypertension, Blue scle... |
OMIM:234100 |
Parietal Foramina 1 |
|
Blue sclerae |
OMIM:168500 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Eczema, Cutis laxa |
OMIM:619691 |
Immunodeficiency 97 With Autoinflammation |
|
Monocytopenia, Autoimmune hemolytic anemia, Recurrent skin infections, Eczema, Decreased proporti... |
OMIM:619802 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation of the large intestine... |
OMIM:619281 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Soft, doughy skin, Hyperextensible skin, Soft skin |
OMIM:130010 |
Ichthyosis, X-Linked |
|
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism |
OMIM:308100 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Blue sclerae, Small for gestational age |
OMIM:616817 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Dry skin |
ORPHA:2584 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Blue sclerae |
ORPHA:2324 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Cutis laxa |
OMIM:619451 |
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome |
|
Skeletal muscle atrophy, Blue sclerae |
ORPHA:2840 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Geroderma Osteodysplastica |
|
Microcornea, Hyperextensible skin, Redundant skin |
ORPHA:2078 |
Weaver Syndrome |
|
Camptodactyly of finger, Redundant skin |
ORPHA:3447 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Blue sclerae, Small for gestational age, Decreased body weight |
ORPHA:391408 |
Microphthalmia, Isolated 5 |
|
Cataract, Scleral thickening |
OMIM:611040 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer, Ectopia lentis |
OMIM:604571 |
Developmental And Epileptic Encephalopathy 28 |
|
Blue sclerae |
OMIM:616211 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, ... |
ORPHA:542306 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity, Splenomegaly, Arthritis, Chronic otitis media |
ORPHA:61 |
Silver-Russell Syndrome 2 |
|
Blue sclerae |
OMIM:618905 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Diastasis recti, Microc... |
OMIM:601776 |
Grant Syndrome |
|
Blue sclerae |
ORPHA:2097 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Bronchiectasis, Hepatitis, Neutrope... |
ORPHA:1163 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, Anemia |
OMIM:246400 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Redundant neck skin, Patent ductus arteriosus, Coloboma, Peters anomaly |
OMIM:618652 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Pustule, Corneal erosion, Erythema, Skin ulcer, Weight loss, Conjunctivitis, D... |
ORPHA:37 |
Laron Syndrome |
|
Truncal obesity, Blue sclerae |
ORPHA:633 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Abnormal dense gr... |
OMIM:214500 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal opacity, Lower limb amyotrophy |
ORPHA:496790 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... |
ORPHA:35858 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hyperextensible skin |
OMIM:615937 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop... |
ORPHA:398124 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Developmental glaucoma, Elbow flexion contracture, Cutis laxa, H... |
OMIM:245600 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Cataract, Redundant skin, Congestive heart failure, Cutis laxa, Right bundle branch block, Joint ... |
OMIM:617403 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Thrombocytopenia, Splenomegaly, Abnormal natural killer cell cou... |
ORPHA:158061 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis, Erythroderma |
OMIM:242150 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Neutropenia, Bronchiectasis, Conjunctivitis, Rectal abscess, Recurrent sinus... |
OMIM:601495 |
Progeroid Syndrome, Petty Type |
|
Failure to thrive, Redundant skin, Cutis laxa |
ORPHA:2963 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Congestive heart failure, Pulmonary insufficiency, Blue sclerae |
OMIM:166210 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Erythema, Elbow flexion contracture, Limbal stem cell de... |
OMIM:618175 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Cryptorchidism, Hypogonadism, Corneal opacity |
ORPHA:281090 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Man1B1-Cdg |
|
Truncal obesity, Cutis laxa |
ORPHA:397941 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Cutis laxa |
OMIM:610842 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Blue sclerae |
ORPHA:363417 |
Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hypertrophic cardiomyopathy, Blue sclerae, Flexion contracture |
OMIM:619383 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Scaling skin, Cutis laxa |
ORPHA:2269 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Redundant neck skin, Corneal opacity, Redundant skin, Congestive heart fail... |
ORPHA:90348 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Corneal opacity, Small for gestational age, Abnormal left ventricular functi... |
OMIM:301056 |
Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Skin ulcer, Weight loss |
ORPHA:33355 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Hepatitis... |
ORPHA:292 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Hyperextensible skin, Blue sclerae, Soft, doughy skin, Dermal translucency |
OMIM:225410 |
Wiedemann-Steiner Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Patent ductus arteriosus, Blue sc... |
OMIM:605130 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Microcornea, Hyperextensible skin, Blue sclerae, Soft, ... |
ORPHA:536467 |
Limited Cutaneous Systemic Sclerosis |
|
Foot joint contracture, Telangiectasia of the skin, Skin ulcer, Pulmonary arterial hypertension, ... |
ORPHA:220402 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Microcornea,... |
ORPHA:536545 |
Grant Syndrome |
|
Blue sclerae |
OMIM:138930 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Pneumonia |
ORPHA:464370 |
Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Contractur... |
OMIM:607015 |
Saul-Wilson Syndrome |
|
Cataract, Blue sclerae |
OMIM:618150 |
Tangier Disease |
|
Myocardial infarction, Facial diplegia, Distal amyotrophy, Opacification of the corneal stroma, L... |
OMIM:205400 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Cataract, Skin ulcer, Telangiectasia, Scaling skin, Hypoten... |
ORPHA:454831 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Redundant neck skin, Redundant skin, Subretinal pigment epithelium hemorrh... |
ORPHA:357074 |
Silver-Russell Syndrome 1 |
|
Blue sclerae, Small for gestational age |
OMIM:180860 |
Rodrigues Blindness |
|
Microcornea, Sparse hair, Sclerocornea, Fine hair |
OMIM:268320 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Excessive wrinkled skin, Failure to thrive, Redundant skin, Cutis laxa |
OMIM:219200 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Psoriasifor... |
ORPHA:37042 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Recurrent otitis media, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Osteogenesis Imperfecta, Type V |
|
Blue sclerae |
OMIM:610967 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepatosplenomegaly |
ORPHA:309288 |
Al-Gazali Syndrome |
|
Wrist flexion contracture, Failure to thrive, Corneal opacity, Sclerocornea |
OMIM:609465 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Blue sclerae |
OMIM:618707 |
Osteogenesis Imperfecta, Type Ix |
|
Blue sclerae |
OMIM:259440 |
Osteogenesis Imperfecta, Type Xix |
|
Blue sclerae |
OMIM:301014 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Failure to thrive, Blue sclerae |
OMIM:241500 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Telangiectasia of the skin, Redundant skin, Myocardial infarction, Cardiac arrest, C... |
ORPHA:3342 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Soft skin, Hyperextensible skin, Blue sclerae, Palmoplantar cutis laxa |
OMIM:130080 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Camptodactyly of finger |
ORPHA:1794 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... |
ORPHA:436159 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopeni... |
ORPHA:508542 |
Macs Syndrome |
|
Redundant skin, Cutis laxa, Hyperextensible skin, Decreased body weight, Soft skin |
OMIM:613075 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Juvenile Hyaline Fibromatosis |
|
Skeletal muscle atrophy, Progressive flexion contractures, Skin ulcer |
ORPHA:2028 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Opacification of the corneal stroma |
OMIM:230650 |
Cystinosis |
|
Myopathy, Failure to thrive, Corneal opacity, Portal hypertension |
ORPHA:213 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media |
OMIM:266265 |
Wilson Disease |
|
Pruritus, Increased body weight, Weight loss, Proximal muscle weakness in lower limbs, Kayser-Fle... |
ORPHA:905 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Propionic Acidemia |
|
Pancytopenia, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:606054 |
Attenuated Chédiak-Higashi Syndrome |
|
Ocular albinism, Epistaxis, Skin ulcer |
ORPHA:352723 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Blue sclerae, Obesity |
OMIM:620250 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Cataract, Neutropenia, Developmental cataract |
OMIM:616395 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Pruritus |
ORPHA:411777 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Skin ulcer, Weight loss, Hypertension, Cerebral ischemia, Pulm... |
ORPHA:3287 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Redundant skin |
ORPHA:2655 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation... |
ORPHA:137675 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract, Lack of skin elasticity |
ORPHA:1366 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Acral ulceration... |
OMIM:256800 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Distal amyotrophy, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Developmental cataract, Telangiectasia, Petechiae |
ORPHA:93400 |
Mucolipidosis Type Iv |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Corneal opacity |
ORPHA:578 |
Osteogenesis Imperfecta, Type Xiii |
|
Skeletal muscle atrophy, Blue sclerae, Decreased body weight |
OMIM:614856 |
White Forelock With Malformations |
|
Blue sclerae |
ORPHA:2475 |
Menkes Disease |
|
Intracranial hemorrhage, Cutis laxa |
OMIM:309400 |
Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia, Torticollis, Cutis laxa |
ORPHA:276432 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Lichen Planopilaris |
|
Pruritus, Pterygium, Skin ulcer |
ORPHA:525 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, T lymphocy... |
OMIM:300755 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Obesity, Blue sclerae |
ORPHA:813 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Cataract, Corneal opacity |
ORPHA:812 |
Osteogenesis Imperfecta, Type Xiv |
|
Blue sclerae |
OMIM:615066 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Neutropenia, Colitis, Hemopha... |
ORPHA:540 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Redundant skin |
ORPHA:93274 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Erythema, Skin ulcer, Weight loss, Cardiomyopathy, Hypertension |
ORPHA:767 |
Noonan Syndrome 8 |
|
Failure to thrive, Eczema, Large for gestational age, Patent ductus arteriosus, Mitral regurgitat... |
OMIM:615355 |
Alagille Syndrome |
|
Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Abnormal pupil morphology, Hypertensi... |
ORPHA:52 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ectopia lentis, Flexion contracture, Mitral regurgitation, Hyperextensible skin, Blue sclerae, De... |
OMIM:271640 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Blue sclerae, Iris coloboma |
ORPHA:1236 |
Buerger Disease |
|
Vasculitis, Skin ulcer |
ORPHA:36258 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Skeletal muscle atrophy, Cataract, Acral ulceration |
OMIM:162400 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Chorioretinal colo... |
OMIM:120200 |
Poikiloderma With Neutropenia |
|
Skin rash, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunctivitis, Recurrent sinusitis, Ne... |
OMIM:604173 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Minimal change glomerulonephritis, Thrombocytopenia, Decreased proportion of nai... |
ORPHA:1830 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Astigmatism, Opacification of the cor... |
OMIM:242900 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Colitis, Neutropenia, Infectious... |
OMIM:209920 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Ocular albinism, Neutropenia, ... |
OMIM:608233 |
Lcat Deficiency |
|
Hemolytic anemia, Corneal opacity |
ORPHA:650 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Skin ulcer |
ORPHA:409 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Blue sclerae, Conjunctivitis |
OMIM:615560 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Skin ulcer |
ORPHA:1657 |
Nail-Patella Syndrome |
|
Keratoconus, Cataract, Glomerulonephritis, Antecubital pterygium, Microcornea, Microphakia, Leste... |
OMIM:161200 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Skin ulcer |
ORPHA:542592 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Blue sclerae |
OMIM:619638 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Bronchiectasis, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Obesity, Hypertension, Aniridia |
OMIM:612469 |
Gm1 Gangliosidosis |
|
Corneal opacity, Camptodactyly of finger, Congestive heart failure, Patent ductus arteriosus, Apl... |
ORPHA:354 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Patent ductus arteriosus, Redundant neck skin, Small for gestational age |
OMIM:610498 |
Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Microcornea, Coloboma, Blue sclerae, Failure to thrive |
ORPHA:2322 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Cataract, Redundant skin, Congestive heart failure, Lack o... |
ORPHA:90349 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Skin rash, Skin ulcer |
ORPHA:229717 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:615145 |
Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Blue sclerae, Heart murmur |
OMIM:158170 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Eczema, Iris hypopigmentation |
ORPHA:284160 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, Skin ulcer,... |
OMIM:608710 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Blue sclerae |
OMIM:177850 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Hip contracture, Blue sclerae, Developmental cataract |
ORPHA:488642 |
Scheie Syndrome |
|
Splenomegaly, Rhinitis, Corneal opacity |
ORPHA:93474 |
Osteogenesis Imperfecta, Type Xv |
|
Blue sclerae |
OMIM:615220 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Abscess, E... |
OMIM:615816 |
Fucosidosis |
|
Decreased muscle mass, Failure to thrive, Corneal opacity |
ORPHA:349 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Marshall-Smith Syndrome |
|
Failure to thrive, Blue sclerae |
ORPHA:561 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cataract, Recurrent pneumonia, Leukopenia, Neutropenia, Zonular cataract, Thrombocytopenia |
OMIM:616271 |
Gapo Syndrome |
|
Keratoconus, Facial palsy, Redundant skin, Shallow anterior chamber, Megalocornea |
OMIM:230740 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Lymphopenia |
OMIM:617827 |
Phakomatosis Pigmentovascularis |
|
Blue sclerae |
ORPHA:2875 |
Acrogeria |
|
Excessive wrinkled skin, Telangiectasia of the skin, Skin ulcer |
ORPHA:2500 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Blue sclerae |
OMIM:259420 |
Trisomy 8P |
|
Multiple joint contractures, Heart murmur, Blue sclerae, Astigmatism, Heterochromia iridis |
ORPHA:264450 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion contracture, Cystic acne |
OMIM:604416 |
Werner Syndrome |
|
Skeletal muscle atrophy, Cataract, Telangiectasia of the skin, Myocardial infarction, Congestive ... |
ORPHA:902 |
Reynolds Syndrome |
|
Telangiectasia of the skin, Skin rash, Pruritus, Skin ulcer, Keratoconjunctivitis sicca, Mucosal ... |
ORPHA:779 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Blue sclerae, Aborted ... |
OMIM:614921 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Bohring-Opitz Syndrome |
|
Failure to thrive, Flexion contracture, Camptodactyly, Cutis laxa |
OMIM:605039 |
Macrocephaly/Autism Syndrome |
|
Large for gestational age, Obesity, Cutis laxa |
OMIM:605309 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Vasculitis, Skin ulcer, Keratoconjunctivitis sicca, Petechiae, Purpura |
ORPHA:91138 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Blue sclerae |
OMIM:617101 |
Aplasia Cutis Congenita |
|
Facial palsy, Skin ulcer |
ORPHA:1114 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Splenomegaly, Neutropenia, Hepatitis, Chronic hepatitis, Sclerosing cholangitis... |
OMIM:308230 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Cataract, Corneal opacity, Microcornea, Muscular dystrophy, Aplasia/Hypo... |
ORPHA:899 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
C Syndrome |
|
Patent ductus arteriosus, Failure to thrive, Cutis laxa |
OMIM:211750 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Sinusitis, Abnormal eosinophil morphology, Eczema, Microcytic anemia, Keratitis... |
ORPHA:906 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
Aarskog-Scott Syndrome |
|
Congestive heart failure, Megalocornea, Hyperextensible skin, Camptodactyly of finger |
ORPHA:915 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Redundant skin, Camptodactyly of finger, Corneal erosion, Excessive wrinkled ski... |
ORPHA:920 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Failure to thrive, Blue sclerae, Weight loss |
OMIM:619377 |
3-Methylglutaconic Aciduria Type 7 |
|
Cataract, Infection associated neutropenia, Neutropenia |
ORPHA:445038 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Leukopenia, Neutropenia, Stomatitis, Anemia |
ORPHA:520 |
Classic Phenylketonuria |
|
Cataract, Eczema, Lack of skin elasticity |
ORPHA:79254 |
Cranioectodermal Dysplasia 4 |
|
Cutis laxa |
OMIM:614378 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h... |
OMIM:617052 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Cataract, Redundant skin |
ORPHA:192 |
Zellweger Syndrome |
|
Posterior embryotoxon, Cataract, Corneal opacity, Brushfield spots, Failure to thrive |
ORPHA:912 |
Spondylo-Ocular Syndrome |
|
Cataract, Facial hypotonia, Aplasia/Hypoplasia of the lens, Hyperextensible skin, Iris hypopigmen... |
ORPHA:85194 |
Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin |
ORPHA:1807 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Alopecia totalis, Popliteal pterygium, Sparse or absent eyelashes, Aplasia/Hypop... |
ORPHA:1234 |
Loeys-Dietz Syndrome 5 |
|
Scapular winging, Decreased muscle mass, Failure to thrive in infancy, Mitral regurgitation, Blue... |
OMIM:615582 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Patent ductus arteriosus, Opacification of the corneal stroma, Failure to thrive, Petec... |
OMIM:251290 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Supravalvular aortic stenosis, Redundant skin, Congenital diaphragmatic hernia, Cutis laxa |
OMIM:219100 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Pneumonia, Ec... |
ORPHA:811 |
Blepharonasofacial Malformation Syndrome |
|
Redundant skin |
ORPHA:1252 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Bronchiectasis, A... |
ORPHA:51636 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Vitreoretinochoroidopathy |
|
Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhage, Posterior staphyl... |
OMIM:193220 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Cataract, Hand muscle weakness, Developmental glaucoma, ... |
ORPHA:99956 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Eczematoid dermatitis |
OMIM:259100 |
Immunodeficiency 49 |
|
Psoriasiform dermatitis, Cutis laxa |
OMIM:617237 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma, Congenital diaphragmatic hernia |
ORPHA:1647 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Normochromic anemia, Thrombocytopenia, Neutropenia |
OMIM:614857 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Blue sclerae |
OMIM:605282 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Camptodactyly, Cutis laxa |
OMIM:231070 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Obesity, Aniridia, Iris coloboma, Camptodactyly of toe |
ORPHA:251038 |
Fanconi Anemia, Complementation Group I |
|
Astigmatism, Neutropenia |
OMIM:609053 |
Thanatophoric Dysplasia Type 1 |
|
Excessive wrinkled skin, Patent ductus arteriosus, Redundant skin |
ORPHA:1860 |
Weaver Syndrome |
|
Diastasis recti, Patent ductus arteriosus, Cutis laxa, Camptodactyly, Joint contracture of the hand |
OMIM:277590 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Telangiectasia of the skin, Congenital diaphragmatic hernia, Ectopia lentis, Dia... |
ORPHA:2092 |
Anauxetic Dysplasia 3 |
|
Cutis laxa |
OMIM:618853 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Blue sclerae |
OMIM:617412 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Dentinogenesis Imperfecta |
|
Blue sclerae |
ORPHA:49042 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Kabuki Syndrome 2 |
|
Blue sclerae, Pulmonic stenosis, Decreased body weight |
OMIM:300867 |
Fibromuscular Dysplasia, Multifocal |
|
Soft skin, Hyperextensible skin, Blue sclerae, Soft, doughy skin, Striae distensae, Dermal transl... |
OMIM:619329 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Roberts Syndrome |
|
Cataract, Progressive flexion contractures, Knee flexion contracture, Blue sclerae, Wrist flexion... |
ORPHA:3103 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma, Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Blue sclerae, Myopathy |
OMIM:619743 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Blue sclerae, Failure to thrive in infancy |
ORPHA:488627 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Cryptorchidism, Ocular albinism, Thin skin, ... |
ORPHA:2719 |
Rin2 Syndrome |
|
Hyperextensible skin, Redundant skin |
ORPHA:217335 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Corneal opacity, Small for gestational age, Cerebral hemorrhage, Flexion co... |
ORPHA:666 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Blue sclerae |
OMIM:619122 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Abnormal T cell morphology |
OMIM:215250 |
Osteogenesis Imperfecta, Type Xvi |
|
Blue sclerae, Small for gestational age |
OMIM:616229 |
Farber Disease |
|
Skeletal muscle atrophy, Corneal opacity, Flexion contracture, Abnormal conjunctiva morphology, O... |
ORPHA:333 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi... |
OMIM:300952 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Skin ulcer, Purpura |
ORPHA:743 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
Scarf Syndrome |
|
Diastasis recti, Cutis laxa |
ORPHA:3134 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Telangiectasia of the skin, Skin rash, Pruritus, Myocarditis, Lac... |
ORPHA:81 |
Papa Syndrome |
|
Pustule, Myositis, Acne, Skin ulcer |
ORPHA:69126 |
Cole-Carpenter Syndrome 2 |
|
Blue sclerae |
OMIM:616294 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Skin ulcer |
ORPHA:217390 |
Prolidase Deficiency |
|
Eczema, Crusting erythematous dermatitis, Diffuse telangiectasia, Skin ulcer, Failure to thrive, ... |
OMIM:170100 |
Angelman Syndrome |
|
Keratoconus, Astigmatism, Iris hypopigmentation |
ORPHA:72 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Skin rash, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Stomatitis, Anemia |
OMIM:277380 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Skin rash, Epistaxis, Congestive heart f... |
ORPHA:727 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... |
ORPHA:167 |
Necrotizing Enterocolitis |
|
Leukocytosis, Peritonitis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
Carpenter Syndrome |
|
Patent ductus arteriosus, Abnormal cornea morphology, Obesity |
ORPHA:65759 |
Gapo Syndrome |
|
Keratoconus, Hyperextensible skin |
ORPHA:2067 |
Desbuquois Dysplasia 2 |
|
Truncal obesity, Blue sclerae |
OMIM:615777 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Corneal opacity, Recurrent skin infections, Erythema, Failure to th... |
ORPHA:79396 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Astigmatism, Sclerocornea |
ORPHA:2095 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Flexion contracture, Cardiomyopathy, Mitral regurgitation,... |
OMIM:607014 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Redundant skin, Congestive heart failure, Cutis laxa, Mitral regurgitation,... |
OMIM:123700 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia, Recurrent otitis ... |
OMIM:612562 |
Marshall-Smith Syndrome |
|
Patent ductus arteriosus, Premature ventricular contraction, Hypertension, Blue sclerae, Decrease... |
OMIM:602535 |
Pycnodysostosis |
|
Overweight, Blue sclerae |
ORPHA:763 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Keratoconjunctivitis sicca, Astigmatism, Hyperextensible skin, Redundant skin |
ORPHA:536532 |
Sanjad-Sakati Syndrome |
|
Myopathy, Astigmatism, Corneal opacity |
ORPHA:2323 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Iris coloboma, Sclerocornea |
ORPHA:77298 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Cataract, Cutis laxa, Macroglossia, Hypertension, Failure to thrive |
OMIM:266920 |
Cohen Syndrome |
|
Leukopenia, Neutropenia |
OMIM:216550 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Camptodactyly of finger, Eczema, Pustule, Erythema, Skin ulcer, Kerat... |
ORPHA:2907 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Unusual skin infection, Facial palsy, Pustule, Skin ulcer, Arrhythmia, Corne... |
ORPHA:68 |
X-Linked Creatine Transporter Deficiency |
|
Redundant skin, Cachexia |
ORPHA:52503 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Internal hemorr... |
ORPHA:49566 |
8P Inverted Duplication/Deletion Syndrome |
|
Contractures of the large joints, Small hypothenar eminence, Blue sclerae |
ORPHA:96092 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Distal amyotrophy, Foot dorsiflexor weakness, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Patent ductus arteriosus, Tricuspid regurgitation, Blue sclerae, Camptodactyly |
OMIM:616894 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Failure to thrive, Corneal opacity, Small for gestational age, Ankle flexio... |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Corneal opacity, Small for gestational age, Ec... |
ORPHA:464306 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Myopic astigmatism, ... |
ORPHA:230851 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Patent ductus arteriosus, Blue sclerae... |
OMIM:617137 |
Macular Degeneration, Age-Related, 3 |
|
Distal amyotrophy, Hyperextensible skin |
OMIM:608895 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Bone Dysplasia, Lethal Holmgren Type |
|
Redundant neck skin, Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy, Failure ... |
ORPHA:1842 |
Alkaptonuria |
|
Myocardial infarction, Hypertension, Blue sclerae, Thickened Achilles tendon, Tendon rupture |
ORPHA:56 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Leukopenia, Neutropenia, Nephritis, Anemia |
OMIM:617303 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:614520 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Cutis laxa, Truncal obesity, Hyperextensible skin, Failure to thrive, Pu... |
OMIM:222700 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Corneal erosion, Erythema, Skin ulcer, Weight ... |
ORPHA:537 |
Noonan Syndrome 10 |
|
Prominent corneal nerve fibers, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Mitral reg... |
OMIM:616564 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Ocular albinism, Neutropenia |
OMIM:617050 |
Emanuel Syndrome |
|
Redundant neck skin, Multiple joint contractures, Congenital diaphragmatic hernia, Patent ductus ... |
ORPHA:96170 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Cartilage-Hair Hypoplasia |
|
Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, Blue sclerae, ... |
ORPHA:175 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Patent ductus ar... |
OMIM:608328 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Redundant neck skin, Pulmonary arterial hypertension |
OMIM:619003 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Cutis laxa |
OMIM:614800 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Coloboma, Corneal opacity |
OMIM:163200 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Excessive wrinkled skin, Hyperextensible skin, Pulm... |
ORPHA:1340 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma |
OMIM:253010 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Palmoplantar cutis laxa, Congestive heart failure, Redundant skin, Pulmonary arterial hypertension |
OMIM:616482 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Zygomycosis |
|
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, ... |
ORPHA:73263 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Neutropenia, Skin rash, Megaloblastic anemia |
ORPHA:79284 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Soft, doughy skin, Hyperextensible skin, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia, Recurrent sinusitis, Rheu... |
OMIM:607944 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalangeal joint c... |
OMIM:259600 |
Ogden Syndrome |
|
Torticollis, Redundant neck skin, Redundant skin, Facial wrinkling, Eczema, Patent ductus arterio... |
OMIM:300855 |
Leishmaniasis |
|
Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,... |
ORPHA:33364 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A... |
ORPHA:324 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Punctate ke... |
OMIM:557000 |
Opsismodysplasia |
|
Blue sclerae |
ORPHA:2746 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Camptodactyly of finger, Recurrent skin infections, Skeletal muscle hy... |
ORPHA:3455 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Flexion contracture, Failure to thrive, Hyperextensible skin, Blue sclerae |
OMIM:130070 |
Tangier Disease |
|
Left ventricular hypertrophy, Facial diplegia, Dry skin, Corneal opacity |
ORPHA:31150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Coloboma, Congenital contracture, Peters anomaly, Megaloc... |
OMIM:236670 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Failure to thrive, Hypertrophic cardiomyopathy, Blue sclerae |
OMIM:616539 |
Mucopolysaccharidosis Type 1 |
|
Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Corneal opacity |
ORPHA:579 |
Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Cataract, Small for gestational age, Flexion contracture, Blue sclerae, Genera... |
OMIM:264090 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Hyperextensible skin |
OMIM:617174 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism |
ORPHA:624 |
Osteogenesis Imperfecta, Type Xviii |
|
Blue sclerae |
OMIM:617952 |
Pyoderma Gangrenosum |
|
Skin vesicle, Myositis, Pustule, Skin ulcer |
ORPHA:48104 |
Scarf Syndrome |
|
Diastasis recti, Cutis laxa |
OMIM:312830 |
Vici Syndrome |
|
Cataract, Ocular albinism, Chronic mucocutaneous candidiasis, Developmental cataract, Leukopenia,... |
OMIM:242840 |
Osteogenesis Imperfecta, Type Xi |
|
Blue sclerae |
OMIM:610968 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Microcornea, Congestive heart failure, Increased number of skin folds |
ORPHA:2505 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Failure to thrive, Cataract, Brushfield spots, Opacification of the corneal stroma, Camptodactyly... |
OMIM:214110 |
Cardiofaciocutaneous Syndrome 4 |
|
Cataract, Hyperextensible skin, Pulmonic stenosis |
OMIM:615280 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cataract, Neutropenia |
OMIM:615471 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Diastasis recti, Flexion contracture, Macroglossia, Cardiomyopathy |
OMIM:253220 |
Autoimmune Polyendocrinopathy Type 1 |
|
Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Methylmalonic Aciduria, Cblb Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Camptodactyly of finger, Macroglossia, Cardiomyopathy, Hyperten... |
ORPHA:93473 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Patent ductus arteriosus, Obesity, Knee flexion contracture, Cutis laxa,... |
OMIM:614976 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
Khan-Khan-Katsanis Syndrome |
|
Peters anomaly, Corneal scarring, Buphthalmos, Neutropenia, Lymphopenia, Anemia |
OMIM:618460 |
Premature Aging Syndrome, Penttinen Type |
|
Flexion contracture of finger, Corneal opacity, Corneal stromal edema, Joint contracture, Failure... |
OMIM:601812 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Corneal opacity, Hepatitis |
ORPHA:584 |
Trichorhinophalangeal Syndrome Type 2 |
|
Redundant skin |
ORPHA:502 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip contracture, Failure to thrive, Portal hypertension, Erythema, Flexion contracture, Elbow fle... |
OMIM:619503 |
Loeys-Dietz Syndrome 1 |
|
Patent ductus arteriosus, Blue sclerae, Camptodactyly, Soft skin, Dermal translucency |
OMIM:609192 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Corneal opacity, Flexion contracture, Cardiomyopathy, Mitral regurgitati... |
OMIM:253200 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Posterior staphyloma, Truncal obesity, Posterior subcapsular cataract, Nuclear cataract |
OMIM:617547 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato... |
OMIM:158310 |
Papillorenal Syndrome |
|
Cataract, Lens luxation, Optic disc coloboma, Hypertension, Hyperextensible skin, Retinal colobom... |
OMIM:120330 |
Alg12-Cdg |
|
Patent ductus arteriosus, Failure to thrive, Redundant skin, Camptodactyly |
ORPHA:79324 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Mosaic Trisomy 8 |
|
Arthrogryposis multiplex congenita, Corneal opacity, Camptodactyly of finger |
ORPHA:96061 |
Dyggve-Melchior-Clausen Disease |
|
Limb muscle weakness, Failure to thrive, Corneal opacity |
ORPHA:239 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Developmental glaucoma, Reti... |
ORPHA:124 |
Barber-Say Syndrome |
|
Failure to thrive, Hyperextensible skin, Redundant skin |
ORPHA:1231 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Hermansky-Pudlak Syndrome |
|
Cataract, Ocular albinism, Astigmatism, Neutropenia, Iris hypopigmentation |
ORPHA:79430 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hyperextensible skin, Redundant skin |
OMIM:618000 |
Cole-Carpenter Syndrome |
|
Blue sclerae |
ORPHA:2050 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... |
OMIM:613179 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Osteogenesis Imperfecta, Type Xx |
|
Blue sclerae |
OMIM:618644 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Cardiac arrest, Patent ductus arteriosus, Blue sclerae, Striae distensae |
ORPHA:60030 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con... |
OMIM:268300 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Moebius Syndrome |
|
Skeletal muscle atrophy, Corneal opacity, Facial palsy, Aplasia of the pectoralis major muscle, A... |
ORPHA:570 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Facial hypotonia, Macroglossia, Mitral regurgita... |
ORPHA:309282 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Pallor, Skin ulcer |
ORPHA:848 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Redundant skin |
ORPHA:96167 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Corneal opacity, Diastasis recti, Eczema, Macroglossia, Pulmonic stenosis |
ORPHA:488632 |
Blau Syndrome |
|
Pericarditis, Cataract, Skin rash, Facial palsy, Camptodactyly of finger, Keratitis, Erythema nod... |
ORPHA:90340 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Skin ulcer, Pulmonary ... |
ORPHA:220393 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Buphthalmos, Neutropenia |
OMIM:618005 |
Carpenter Syndrome 1 |
|
Patent ductus arteriosus, Obesity, Microcornea, Pulmonic stenosis, Opacification of the corneal s... |
OMIM:201000 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Coloboma, Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Mosaic Trisomy 9 |
|
Patent ductus arteriosus, Corneal opacity, Camptodactyly of finger |
ORPHA:99776 |
3Mc Syndrome 3 |
|
Corneal opacity, Diastasis recti |
OMIM:248340 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Myopathy, Peters anomaly, Iris coloboma |
OMIM:243605 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo... |
OMIM:619644 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Cystic acne, Small vessel vasculitis, Acn... |
OMIM:608068 |
Sepsis In Premature Infants |
|
Splenomegaly, Leukocytosis, Enterocolitis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
Immunodeficiency 47 |
|
Failure to thrive, Tricuspid regurgitation, Cutis laxa |
OMIM:300972 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Skin rash, Leukemia, Neutropenia, Juvenile cataract, Malar rash, Anemia |
ORPHA:2909 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Redundant skin, Morgagni diaphragmatic hernia, Cutis laxa, R... |
OMIM:613177 |
Mucopolysaccharidosis Type 6 |
|
Macroglossia, Failure to thrive, Opacification of the corneal stroma |
ORPHA:583 |
Wrinkly Skin Syndrome |
|
Scapular winging, Redundant skin, Hypoplasia of the musculature, Neonatal wrinkled skin of hands ... |
OMIM:278250 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae |
OMIM:615877 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Knee flexion contracture, Failure to thrive, Elbow flexion contracture, Cutis laxa |
OMIM:151050 |
Leigh Syndrome |
|
Cataract, Eczema, Anemia, Neutropenia |
ORPHA:506 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Myocarditis, Leukocytosis, Splenomegaly, Hepatitis, Arthritis |
ORPHA:829 |
Sympathetic Ophthalmia |
|
Cataract, Erythema, Retinal hemorrhage, Anterior chamber cells, Posterior synechiae of the anteri... |
ORPHA:79098 |
Congenital Tracheomalacia |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Failure to thrive, Cutis laxa |
ORPHA:95430 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Astigmatism, Eczema, Neutropenia |
OMIM:617799 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Flat cornea, Hyperextensible skin, Striae distensae |
OMIM:614816 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Camptodactyly of finger, Recurrent skin infections, Flexion contracture, Erythem... |
ORPHA:2908 |
Kleefstra Syndrome Due To A Point Mutation |
|
Failure to thrive, Hyperextensible skin, Large for gestational age, Developmental cataract |
ORPHA:261652 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle |
ORPHA:2314 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Prolidase Deficiency |
|
Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Dry skin |
ORPHA:742 |
Osteogenesis Imperfecta, Type X |
|
Blue sclerae |
OMIM:613848 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Scapular winging, Myocardial infarction, Redundant skin in infancy, Cutis laxa, Astigmatism, Dry ... |
OMIM:150230 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Telangiectasia of the skin, Redundant skin, Transient ischemic attack, Abnormal pupi... |
ORPHA:286 |
Brooke-Spiegler Syndrome |
|
Facial palsy, Skin ulcer |
ORPHA:79493 |
Loeys-Dietz Syndrome 2 |
|
Patent ductus arteriosus, Blue sclerae, Camptodactyly, Soft skin, Joint contracture of the hand, ... |
OMIM:610168 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Methylmalonic Aciduria, Cbla Type |
|
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251100 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Cutis laxa, Bradycardia, Soft skin, Pulmonary insufficiency, Der... |
OMIM:614437 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, Skin ulcer, Pulmonary arterial hyper... |
ORPHA:2072 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Corneal opacity, Sclerocornea, Congenital diaphragmat... |
ORPHA:2556 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Failure to thrive, Corneal opacity |
ORPHA:364577 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Knee flexion contracture, Right bundle branch bloc... |
OMIM:617402 |
Cranioectodermal Dysplasia 3 |
|
Dry skin, Cutis laxa |
OMIM:614099 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thro... |
ORPHA:525731 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Chime Syndrome |
|
Retinal coloboma, Erythema, Corneal opacity, Skin ulcer |
ORPHA:3474 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Redundant neck skin, Brushfield spots, Patent ductus arteriosus, Macroglossia, Opacific... |
OMIM:214100 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Soft skin, Mitral regurgitation, Hyperextensible skin, Aortic regurgitation |
OMIM:225320 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Pyoderma gangrenosum |
OMIM:616576 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L... |
ORPHA:740 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Skin ulcer, Weight loss, Cerebral isch... |
ORPHA:397 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational age |
ORPHA:79332 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Lower limb hypertonia, Blue sclerae |
OMIM:616728 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Pruritus, Myocarditis, Vasculiti... |
ORPHA:221 |
Retinitis Pigmentosa 56 |
|
Posterior staphyloma, Posterior subcapsular cataract, Nuclear cataract |
OMIM:613581 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Corneal opacity, Camptodactyly of finger, Eczema, Keratitis, Corneal erosion, Eryth... |
ORPHA:2273 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Williams Syndrome |
|
Redundant skin, Myocardial infarction, Megalocornea, Sudden cardiac death, Patent ductus arterios... |
ORPHA:904 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Recurrent sk... |
ORPHA:542643 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia |
OMIM:251900 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Gout, Inflammation of the large intestine, Neutropenia, Pancreatitis |
OMIM:232220 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Arrhythmia, Hyperextensible skin |
ORPHA:230839 |
Autosomal Recessive Robinow Syndrome |
|
Blue sclerae, Camptodactyly of finger |
ORPHA:1507 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Peters a... |
OMIM:309801 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Mitral regurgitation, Blue sclerae, Soft skin, Failure to thrive |
OMIM:157800 |
Cohen Syndrome |
|
Iris coloboma, Neutropenia |
ORPHA:193 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Camptodactyly of finger, Flexion contracture, Heart murmur, Cardiomyopathy, Hype... |
ORPHA:217085 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Camptodactyly |
OMIM:614230 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Distal lower limb muscle weakness, Skin ulcer |
OMIM:613640 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Cranioectodermal Dysplasia 2 |
|
Left ventricular hypertrophy, Hypertension, Patent ductus arteriosus, Cutis laxa |
OMIM:613610 |
Fryns Syndrome |
|
Corneal opacity, Congenital diaphragmatic hernia |
ORPHA:2059 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Interphalangeal joint contracture of finger, Diastasis recti, Large for gest... |
ORPHA:96334 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Camptodactyly of finger, Flexion contracture, Heart murmur, Cardiomyopathy, Hype... |
ORPHA:217093 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... |
ORPHA:391487 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Hajdu-Cheney Syndrome |
|
Failure to thrive, Cataract, Mitral stenosis, Patent ductus arteriosus, Skin ulcer, Aortic valve ... |
ORPHA:955 |
Viss Syndrome |
|
Epidural hemorrhage, Eczema, Patent ductus arteriosus, Atopic dermatitis, Cutis laxa, Macroglossi... |
OMIM:619472 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypoplasia of the musculature, High-output congestive heart failure... |
ORPHA:231226 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Recurre... |
ORPHA:2363 |
Leprosy |
|
Skeletal muscle atrophy, Epistaxis, Penetrating foot ulcers, Acral ulceration, Iritis, Corneal pe... |
ORPHA:548 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Microcornea, Astigmatism, Opacification of t... |
OMIM:600268 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Episcleritis, Skin rash, Pustule, Vasculitis, Erythema, Skin ulcer, ... |
ORPHA:761 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Skin ulcer |
ORPHA:424019 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Developmental cataract, Leukemia, Neutropenia, Juvenile cataract, Anemia |
ORPHA:221008 |
Williams-Beuren Syndrome |
|
Failure to thrive in infancy, Portal hypertension, Flexion contracture, Blue irides, Obesity, Cut... |
OMIM:194050 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Kerat... |
ORPHA:95455 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Skeletal muscle atrophy, Failure to thrive, Corneal scarring, Hepatocellular necrosis, Acral ulce... |
OMIM:256810 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Flexion contracture, Atrioventricular block, Macroglossia, Reduced lef... |
ORPHA:581 |
Osteogenesis Imperfecta, Type Iv |
|
Blue sclerae |
OMIM:166220 |
Systemic Sclerosis |
|
Pericarditis, Recurrent skin infections, Nail bed telangiectasia, Right ventricular failure, Rayn... |
ORPHA:90291 |
Infantile Systemic Hyalinosis |
|
Failure to thrive, Telangiectasia of the skin, Camptodactyly of finger, Skin ulcer |
ORPHA:2176 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Failure to thrive, Blue sclerae |
ORPHA:2785 |
Primary Sjögren Syndrome |
|
Myositis, Raynaud phenomenon, Erythema nodosum, Vasculitis, Skin ulcer, Keratoconjunctivitis sicc... |
ORPHA:289390 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Lack of skin elasticity, Cachexia, Weight loss |
ORPHA:1979 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Small for gestational age, Sclerocornea, Patent ductus arteriosus, Failure to thrive |
OMIM:619869 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Cataract, Corneal opacity, Rhabdomyosarcoma, Muscular dystrophy |
ORPHA:1052 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr... |
OMIM:175780 |
Chronic Mucocutaneous Candidiasis |
|
Pruritus, Erythema, Skin rash, Skin ulcer |
ORPHA:1334 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Eczema, Large for gestational age, Astigmatism, Hyperextensible skin, Pulmo... |
OMIM:607721 |
Osteogenesis Imperfecta, Type I |
|
Blue sclerae |
OMIM:166200 |
Congenital Disorder Of Deglycosylation 1 |
|
Facial hypotonia, Corneal opacity, Intrinsic hand muscle atrophy, Decreased body weight, Corneal ... |
OMIM:615273 |
Fontaine Progeroid Syndrome |
|
Tricuspid regurgitation, Small for gestational age, Redundant skin, Hypoplasia of the abdominal w... |
OMIM:612289 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Developmental cataract, Leukemia, Neutropenia, Juvenile cataract, Anemia |
ORPHA:221016 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Stomatitis |
OMIM:612852 |
Tetrasomy 5P |
|
Redundant neck skin, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculatu... |
ORPHA:3309 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity |
ORPHA:384 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Hyperextensible skin, Soft skin, Striae distensae, Muscle fiber splitting |
OMIM:606408 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Patent ductus arteriosus, Optic disc coloboma, Microcornea, Chorioreti... |
ORPHA:141099 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss |
ORPHA:86884 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Failure to thrive, Cataract, Telangiectasia of the skin, Keratitis, ... |
ORPHA:910 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Corneal pterygium, Symblepharon, Skin ulcer |
OMIM:245660 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Aortic valve stenosis, Corneal opacity, Iris coloboma |
ORPHA:2396 |
Spondyloocular Syndrome |
|
Posterior subcapsular cataract, Cataract, Abnormal sclera morphology, Decreased body weight |
OMIM:605822 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Opacification of the corneal stroma |
OMIM:313400 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Aplasia/Hypoplasia of the abdominal wall musculature, Keratoconjunctivitis sicca, Hy... |
ORPHA:285 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Transient ischemic attack, Failure to thrive in infancy, Patent ductus arteriosus after birth at ... |
ORPHA:500150 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... |
ORPHA:900 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticulocytopenia,... |
OMIM:105650 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Low... |
ORPHA:495875 |
Lamellar Ichthyosis |
|
Pruritus, Dry skin, Lack of skin elasticity, Erythroderma |
ORPHA:313 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Hypoplasia of the musculature, High-output congestive heart failure... |
ORPHA:231214 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Redundant neck skin |
OMIM:611719 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Pustule, Myocarditis, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutr... |
ORPHA:50918 |
X-Linked Ehlers-Danlos Syndrome |
|
Hyperextensible skin |
ORPHA:75497 |
Osteogenesis Imperfecta, Type Xii |
|
Abnormal sclera morphology |
OMIM:613849 |
Autosomal Dominant Robinow Syndrome |
|
Blue sclerae, Camptodactyly of finger |
ORPHA:3107 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Neutropenia, Developmental cataract |
ORPHA:163956 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Cataract, Small for gestational age, Brushfield sp... |
OMIM:614866 |
Pneumocystosis |
|
Acute infectious pneumonia, Abnormal neutrophil count, Interstitial pneumonitis, Chronic oral can... |
ORPHA:723 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cataract, Thrombocytopenia, Splenomegaly, Corneal stromal edema, N... |
ORPHA:699 |
Cimdag Syndrome |
|
Scleral staphyloma, Developmental cataract |
OMIM:619273 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Maculopapular exanthema, Pallor, Skin ulcer |
ORPHA:822 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Shoulder muscle hypoplasia, Seborrheic dermatitis, Patent ductus arter... |
OMIM:274000 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Posterior subcapsular cataract, Neutropenia |
OMIM:271510 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Inflammation of the la... |
ORPHA:79259 |
Infantile Myofibromatosis |
|
Skin ulcer |
ORPHA:2591 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia... |
ORPHA:649 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Cataract, Skin ulcer, Scaling skin, Dry skin, Erysipelas |
ORPHA:2526 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
Stuve-Wiedemann Syndrome 1 |
|
Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 5th finger, K... |
OMIM:601559 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Cataract, Flexion contracture, Lack of skin elasticity |
ORPHA:90153 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Small for gestational age, Hypoplasia of the iris, Opacification of the corneal stroma,... |
OMIM:251300 |
Wrinkly Skin Syndrome |
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Decreased muscle mass, Excessive skin wrinkling on dorsum of hands and fingers, Cutis laxa, Exces... |
ORPHA:2834 |
Cushing Disease |
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Acne, Myocardial infarction, Increased body weight, Skin ulcer, Proximal amyotrophy, Recurrent cu... |
ORPHA:96253 |
Ehlers-Danlos Syndrome, Vascular Type |
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Keratoconus, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Hemothorax, Arteri... |
OMIM:130050 |
Barber-Say Syndrome |
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Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
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Lower limb hypertonia, Blue sclerae |
ORPHA:477993 |
Beta-Thalassemia Intermedia |
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High-output congestive heart failure, Pallor, Skin ulcer, Pulmonary arterial hypertension |
ORPHA:231222 |
Mucolipidosis Ii Alpha/Beta |
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Aortic regurgitation, Diastasis recti, Congestive heart failure, Heart murmur, Hypertrophic cardi... |
OMIM:252500 |
Plague |
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Chapped lip, Tachycardia, Skin rash, Hematemesis, Erythema nodosum, Skin ulcer, Hypotension, Arrh... |
ORPHA:707 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Astigmatism, Transient neutropenia, Chronic neutropenia, Cataract |
ORPHA:500095 |
Mucopolysaccharidosis Type 2 |
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Corneal opacity, Cardiomyopathy, Hypertension, Contractures of the large joints, Macroglossia, Fl... |
ORPHA:580 |
Oculocerebrorenal Syndrome Of Lowe |
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Cataract, Corneal opacity, Abnormal pupil morphology, Skin ulcer, Buphthalmos, Lentiglobus, Failu... |
ORPHA:534 |
Microphthalmia, Syndromic 3 |
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Coloboma, Patent ductus arteriosus, Cataract, Sclerocornea |
OMIM:206900 |
Dyskeratosis Congenita |
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Skin vesicle, Cataract, Telangiectasia of the skin, Skin ulcer |
ORPHA:1775 |
Lathosterolosis |
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Microcornea, Failure to thrive, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Pancytopenia, Cholangitis, Hypersplenism, Hepatitis, Thyroiditis, Hepatosplenomegaly, Neutropenia... |
ORPHA:228426 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
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Redundant neck skin |
OMIM:617967 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Corneal crystals |
OMIM:219900 |
Occipital Horn Syndrome |
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Soft skin, Orthostatic hypotension, Hyperextensible skin, Redundant skin |
OMIM:304150 |
Glycogen Storage Disease Ic |
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Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis |
OMIM:232240 |
Frank-Ter Haar Syndrome |
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Redundant neck skin, Acne, Developmental glaucoma, Buphthalmos, Camptodactyly, Megalocornea |
OMIM:249420 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Arthrogryposis multiplex congenita, Redundant neck skin |
OMIM:236500 |
Atypical Werner Syndrome |
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Skeletal muscle atrophy, Telangiectasia of the skin, Congestive heart failure, Lack of skin elast... |
ORPHA:79474 |
Meige Disease |
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Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer |
ORPHA:90186 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Skin rash, Eczema, Portal hypertension, Raynaud phenomenon, Erythema nodosum, Dilated cardiomyopa... |
OMIM:615688 |
Neu-Laxova Syndrome |
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Skeletal muscle atrophy, Cataract, Flexion contracture, Lack of skin elasticity, Muscular dystrop... |
ORPHA:2671 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Stomatitis, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:79282 |
Cockayne Syndrome B |
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Failure to thrive, Small for gestational age, Developmental cataract, Microcornea, Hypoplasia of ... |
OMIM:133540 |
Van Den Ende-Gupta Syndrome |
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Sclerocornea, Elbow flexion contracture, Knee flexion contracture, Camptodactyly of 2nd-5th finge... |
OMIM:600920 |
Arthrochalasia Ehlers-Danlos Syndrome |
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Hyperextensible skin |
ORPHA:1899 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
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Acral ulceration |
OMIM:613115 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
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Erythema, Skin ulcer |
ORPHA:659 |
Chronic Graft Versus Host Disease |
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Erythema, Flexion contracture, Skin ulcer, Weight loss, Keratoconjunctivitis sicca, Recurrent cor... |
ORPHA:99921 |
Zaki Syndrome |
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Patent ductus arteriosus, Hyperextensible skin, Congenital diaphragmatic hernia |
OMIM:619648 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Episcleritis, Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Erythema nodos... |
OMIM:256040 |
Dpagt1-Cdg |
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Prolonged QT interval, Flexion contracture, Developmental cataract, Intracranial hemorrhage, Asti... |
ORPHA:86309 |
Coffin-Lowry Syndrome |
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Mitral regurgitation, Decreased body weight, Cutis laxa |
OMIM:303600 |
Hyper-Igd Syndrome |
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Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Arthritis... |
OMIM:260920 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
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Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Mitral regurgitation, Hy... |
ORPHA:555877 |
Mend Syndrome |
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Redundant neck skin, Cataract, Aortic valve stenosis, Failure to thrive, Anterior polar cataract |
OMIM:300960 |
3-Methylglutaconic Aciduria, Type Viii |
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Cataract, Neutropenia |
OMIM:617248 |
Mosaic Trisomy 1 |
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Congenital diaphragmatic hernia, Elbow flexion contracture, Camptodactyly of finger, Opacificatio... |
ORPHA:1692 |
Noonan Syndrome 2 |
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Patent ductus arteriosus, Cardiomyopathy, Hypertrophic cardiomyopathy, Hyperextensible skin, Pulm... |
OMIM:605275 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Failure to thrive, Corneal opacity |
OMIM:608670 |
Pelviscapular Dysplasia |
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Redundant neck skin, Elbow flexion contracture |
ORPHA:93333 |
Simple Cryoglobulinemia |
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Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... |
ORPHA:91139 |
Gaucher Disease, Type Iiic |
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Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
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Pulmonary arterial hypertension, Patent ductus arteriosus, Redundant neck skin |
ORPHA:2519 |
Limb Body Wall Complex |
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Corneal opacity, Diastasis recti, Congenital diaphragmatic hernia, Lens subluxation, Iris coloboma |
ORPHA:2369 |
Neurofibromatosis Type 1 |
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Cataract, Corneal opacity, Hypertension, Chorioretinal coloboma, Lisch nodules, Heterochromia iridis |
ORPHA:636 |
Noonan Syndrome With Multiple Lentigines |
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Bundle branch block, Scapular winging, Myocardial infarction, Aplasia/Hypoplasia of the abdominal... |
ORPHA:500 |
Larsen Syndrome |
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Corneal opacity |
OMIM:150250 |
Bartsocas-Papas Syndrome 1 |
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Flexion contracture, Dry skin, Popliteal pterygium, Opacification of the corneal stroma, Arthrogr... |
OMIM:263650 |
Chronic Granulomatous Disease |
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Eczema, Skin ulcer |
ORPHA:379 |
Beckwith-Wiedemann Syndrome |
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Redundant skin, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Diastasis recti, Large for ges... |
ORPHA:116 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cataract, Buphthalmos, Coloboma, Pallor, Opacification of the corneal stroma, Muscular dystrophy,... |
OMIM:253280 |
Cockayne Syndrome A |
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Hip contracture, Failure to thrive, Cataract, Hypertension, Opacification of the corneal stroma, ... |
OMIM:216400 |
Mucopolysaccharidosis, Type Iva |
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Opacification of the corneal stroma |
OMIM:253000 |
Gaucher Disease |
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Pulmonary arterial hypertension, Arthrogryposis multiplex congenita, Corneal opacity |
ORPHA:355 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Redundant neck skin, Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, Flexion c... |
ORPHA:254528 |
Familial Mediterranean Fever |
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Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... |
OMIM:249100 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Redundant neck skin, Eczema, Optic disc coloboma, Obesity, Astigmatism, Soft skin, Failure to thrive |
OMIM:617157 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Neutrophilia, Liver abscess, Anemia |
ORPHA:54251 |
Malakoplakia |
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Pruritus, Inflammatory abnormality of the skin, Skin rash, Skin ulcer |
ORPHA:556 |
Phace Syndrome |
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Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Fountain Syndrome |
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Erythema, Hyperextensible skin |
ORPHA:3219 |
Parkes Weber Syndrome |
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Subarachnoid hemorrhage, High-output congestive heart failure, Skin ulcer, Bounding pulse, Scalin... |
ORPHA:90307 |
Peters Plus Syndrome |
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Cataract, Corneal opacity, Patent ductus arteriosus, Microcornea, Pulmonic stenosis, Peters anoma... |
ORPHA:709 |
Chromosome 18P Deletion Syndrome |
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Redundant neck skin, Small for gestational age, Hypomimic face |
OMIM:146390 |
Wolf-Hirschhorn Syndrome |
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Congenital diaphragmatic hernia, Sclerocornea, Megalocornea, Failure to thrive, Iris coloboma |
ORPHA:280 |
Aspartylglucosaminuria |
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Vacuolated lymphocytes, Cataract, Acne, Neutropenia |
OMIM:208400 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ... |
ORPHA:79280 |
Lenz-Majewski Hyperostotic Dwarfism |
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Facial palsy, Redundant skin |
ORPHA:2658 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Redundant neck skin, Camptodactyly |
OMIM:617360 |
C Syndrome |
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Aplasia/Hypoplasia of the abdominal wall musculature, Failure to thrive in infancy, Redundant ski... |
ORPHA:1308 |
Yunis-Varon Syndrome |
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Redundant neck skin, Cataract, Sclerocornea, Renovascular hypertension, Hypertension, Cardiomyopa... |
ORPHA:3472 |
Ablepharon-Macrostomia Syndrome |
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Premature skin wrinkling, Dry skin, Redundant skin, Camptodactyly |
OMIM:200110 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Cardiomyopathy, Patent ductus arteriosus, Redundant neck skin |
OMIM:217980 |
Wilson Disease |
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Hemolytic anemia, Thrombocytopenia, Osteoarthritis, Atypical or prolonged hepatitis, Splenomegaly... |
OMIM:277900 |
Acromesomelic Dysplasia 1 |
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Redundant skin on fingers |
OMIM:602875 |
Classical Ehlers-Danlos Syndrome |
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Orthostatic hypotension, Arterial rupture, Abnormal cornea morphology, Hyperextensible skin, Abno... |
ORPHA:287 |
Acrofrontofacionasal Dysostosis 2 |
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Redundant neck skin |
OMIM:239710 |
Smith-Lemli-Opitz Syndrome |
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Cataract, Congenital diaphragmatic hernia, Sclerocornea, Patent ductus arteriosus, Iris coloboma |
ORPHA:818 |
Infantile Nephropathic Cystinosis |
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Abnormal cornea morphology, Failure to thrive, Corneal crystals |
ORPHA:411629 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Myocarditis, Arrhythmia, Redundant skin |
OMIM:250220 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Perianal erythema, Eczema, Recurrent skin infections, Keratitis, Erythroderma, Hypertension, Scal... |
OMIM:308205 |
Sponastrime Dysplasia |
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Cataract, Recurrent pneumonia, Neutropenia, Microcoria, Congenital aphakia |
ORPHA:93357 |
Familial Keratoacanthoma |
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Skin ulcer |
ORPHA:493 |
Alpha-Fetoprotein Deficiency |
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Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Gabriele-De Vries Syndrome |
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Distal lower limb amyotrophy, Facial hypotonia, Small for gestational age, Astigmatism, Hyperexte... |
ORPHA:506358 |
Idiopathic Hypereosinophilic Syndrome |
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Inflammatory abnormality of the skin, Neutrophilia, Eczema, Cholangitis, Eosinophilia, Thrombocyt... |
ORPHA:3260 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Soft, doughy skin, Hyperextensible skin, Dermal translucency |
ORPHA:541423 |
Meckel Syndrome |
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Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea |
ORPHA:564 |
Adult Syndrome |
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Dry skin, Skin ulcer |
ORPHA:978 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aortic regurgitation, Facial palsy, Coloboma, Hyperextensible skin, Retinal coloboma, Iris coloboma |
ORPHA:508498 |
Osteogenesis Imperfecta, Type Vii |
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Blue sclerae |
OMIM:610682 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Acne, Myocardial infarction, Increased body weight, Skin ulcer, Proximal amyotrophy, Weight loss,... |
ORPHA:99889 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Hyperextensible skin |
ORPHA:1185 |
Kabuki Syndrome 1 |
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Blue sclerae |
OMIM:147920 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
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Distal amyotrophy, Acral ulceration |
OMIM:256840 |
Leukocyte Adhesion Deficiency, Type I |
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Chronic mucocutaneous candidiasis, Skin ulcer |
OMIM:116920 |
Lathosterolosis |
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Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, He... |
OMIM:607330 |
Shprintzen-Goldberg Syndrome |
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Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Mitral regurgitati... |
ORPHA:2462 |
Geleophysic Dysplasia 1 |
|
Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Lack of skin elasticity, A... |
OMIM:231050 |
Down Syndrome |
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Brushfield spots, Macroglossia, Patent ductus arteriosus, Redundant neck skin |
OMIM:190685 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Hyperextensible skin |
ORPHA:1901 |
Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
Digeorge Syndrome |
|
Acne, Sclerocornea, Seborrheic dermatitis, Patent ductus arteriosus, Obesity, Posterior embryotoxon |
OMIM:188400 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
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Redundant neck skin, Small for gestational age |
OMIM:604314 |
Fryns Syndrome |
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Large for gestational age, Aplasia of the left hemidiaphragm, Opacification of the corneal stroma... |
OMIM:229850 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Hypertension, Redundant neck skin |
OMIM:123790 |
Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia |
OMIM:617107 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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Patent ductus arteriosus, Aortic valve stenosis, Redundant neck skin, Supravalvar pulmonary stenosis |
OMIM:618164 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Failure to thrive, Redundant neck skin |
ORPHA:397715 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin |
OMIM:235255 |
Bartter Syndrome, Type 3 |
|
Abnormal sclera morphology, Hypotension |
OMIM:607364 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Joint contracture of the hand, Hyperextensible skin, Camptodactyly |
OMIM:182212 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial h... |
ORPHA:565 |
Carney Complex, Type 1 |
|
Pigmentation of the sclera, Congestive heart failure |
OMIM:160980 |
Zttk Syndrome |
|
Aortic regurgitation, Patent ductus arteriosus, Flexion contracture, Hyperextensible skin, Failur... |
OMIM:617140 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Soft skin, Hyperextensible skin |
OMIM:617821 |
Microphthalmia, Syndromic 6 |
|
Microcornea, Coloboma, Failure to thrive, Sclerocornea |
OMIM:607932 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Cataract, Small for gestational age, Sclerocornea, Failure to thrive in infa... |
OMIM:216340 |
Okamoto Syndrome |
|
Redundant neck skin, Aortic valve stenosis, Astigmatism |
ORPHA:2729 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin |
ORPHA:1655 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Muscular dystrophy, Opacification of the corneal stroma |
OMIM:615287 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Excessive wrinkled skin, Failure to thrive, Hyperextensible skin, Limb hypertonia |
OMIM:619950 |
Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Skin ulcer |
ORPHA:424016 |
Alkaptonuria |
|
Pigmentation of the sclera, Thickened Achilles tendon |
OMIM:203500 |
Costello Syndrome |
|
Redundant neck skin, Rhabdomyosarcoma, Achilles tendon contracture, Macroglossia, Arrhythmia, Pul... |
OMIM:218040 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Small thenar eminence, Hyperextensible skin, Conjunctivitis, Recurrent corneal erosions, Corneal ... |
OMIM:149730 |
Kosaki Overgrowth Syndrome |
|
Hyperextensible skin |
OMIM:616592 |
Leprechaunism |
|
Skeletal muscle atrophy, Hyperextensible skin, Decreased body weight, Hypertrophic cardiomyopathy... |
ORPHA:508 |
Leukocyte Adhesion Deficiency |
|
Recurrent skin infections, Perianal abscess, Pyoderma gangrenosum, Conjunctivitis, Chronic oral c... |
ORPHA:2968 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hyperextensible skin |
ORPHA:1974 |
Occipital Horn Syndrome |
|
Hyperextensible skin |
ORPHA:198 |
Split Cord Malformation |
|
Distal lower limb muscle weakness, Penetrating foot ulcers |
ORPHA:573278 |