Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Myxoma, Intracardiac |
|
Cardiac myxoma, Pulmonic valve myxoma, Bacterial endocarditis |
OMIM:255960 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Epicanthus, Mitral valve prolapse, Atypical scarring of skin, Keratoglobus, Abnormal... |
OMIM:229200 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Hypopigmentation of hair, Corneal opacity, Abnormal heart morphology, Aplasia... |
ORPHA:1067 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st... |
OMIM:615280 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea, Pulmonary hypoplasia |
OMIM:615228 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... |
OMIM:604229 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Cataract, Esophageal stricture, Flexion contracture... |
OMIM:226600 |
Noonan Syndrome 9 |
|
Curly hair, Ventricular septal defect, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchi... |
OMIM:616559 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma, Microphthalmia, Orbital cyst |
OMIM:251505 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Brittle Cornea Syndrome |
|
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... |
ORPHA:90354 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... |
ORPHA:70589 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Corneal opacity, Microcornea, Microphthalmia, Median cleft palate |
ORPHA:2432 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Elb... |
OMIM:148210 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho... |
ORPHA:1473 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Pru... |
OMIM:602400 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic der... |
OMIM:603165 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:245650 |
Distal Deletion 6P |
|
Epicanthus, Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anteri... |
ORPHA:96125 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Epicanthus, Cataract, Upslanted palpebral fissure, Microcornea, High palate, Microphthalmia |
ORPHA:2528 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Epicanthus, Cataract, High palate, Downslanted palpebral fissures |
OMIM:614882 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Atelectasis, Pleural thickening,... |
ORPHA:2302 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Abnormal size of the palpebral fissures, High, narrow palate, Microcorn... |
ORPHA:3214 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia, Cataract |
OMIM:156850 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:273800 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Juvenile cataract, Pili canaliculi |
OMIM:617251 |
Galactosialidosis |
|
Cherry red spot of the macula, Corneal opacity |
ORPHA:351 |
Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal heart valve morphology, Acne, Corneal opacity, Cleft palate, Abnormal a... |
ORPHA:577 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... |
OMIM:217300 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Pulmonary Blastoma |
|
Dyspnea, Recurrent pneumonia, Pleuropulmonary blastoma, Cough |
ORPHA:64741 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Idiopathic Achalasia |
|
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurr... |
ORPHA:930 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, ... |
OMIM:256800 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Epicanthus, Cyanosis, Apnea, Neonatal respiratory distress, Ast... |
ORPHA:2257 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea |
OMIM:619398 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:611638 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... |
ORPHA:79414 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Copper Deficiency, Familial Benign |
|
Curly hair, Decreased circulating copper concentration, Seborrheic dermatitis, Early balding, Fai... |
OMIM:121270 |
Phacoanaphylactic Uveitis |
|
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... |
ORPHA:209959 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormal retinal morphology,... |
ORPHA:170 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia |
OMIM:619003 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Cardiomyopathy, Rhi... |
ORPHA:93476 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, A... |
OMIM:204000 |
Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Pruritus, Corneal erosion, Erythroderma, Abnormality of the nail, Ectropion |
ORPHA:79394 |
Gómez-López-Hernández Syndrome |
|
Toenail dysplasia, Telecanthus, Alopecia of scalp, Corneal opacity |
ORPHA:1532 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Corneal scarring, Colitis, Frontal upsweep of hair, Broad ey... |
OMIM:301220 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract, Chorioretinal coloboma |
OMIM:274205 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Cataract, Macular scar, Band keratopathy, Vitreous haz... |
ORPHA:279914 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Scarring, Hepatocellular carcinoma, Hypertr... |
ORPHA:101330 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia, Sclerocornea, Ankyloblepharon |
OMIM:611038 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Noonan Syndrome 4 |
|
Curly hair, Epicanthus, Ventricular septal defect, Sparse eyebrow, Cryptorchidism, Bilateral ptos... |
OMIM:610733 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, High palate... |
ORPHA:139471 |
Noonan Syndrome 10 |
|
Curly hair, Epicanthus, Ventricular septal defect, Prominent corneal nerve fibers, Sparse eyebrow... |
OMIM:616564 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... |
OMIM:614195 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Skin rash... |
ORPHA:290 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Leber Congenital Amaurosis 4 |
|
Keratoconus, Optic disc pallor, Cone/cone-rod dystrophy, Macular atrophy, Attenuation of retinal ... |
OMIM:604393 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease... |
OMIM:614170 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis |
OMIM:300915 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Gastrointestinal dysmotility, Corneal ulceration, Recurrent skin infections, Corneal scarring |
OMIM:616488 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk... |
OMIM:221900 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Brittle hair, Sparse eyelashes, Ventricular septal defect, Abnormality of hair textur... |
OMIM:234050 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Trichiasis, Highly arched eyebrow, Epiblepharon, Corneal scarring, Dysph... |
OMIM:618460 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... |
OMIM:614602 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Oculoauricular Syndrome |
|
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... |
OMIM:612109 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... |
ORPHA:1302 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... |
ORPHA:90117 |
Larynx Atresia |
|
Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:1202 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
2Q24 Microdeletion Syndrome |
|
Cataract, Camptodactyly of finger, Abnormality iris morphology, Cleft palate, Coloboma, Microphth... |
ORPHA:1617 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Cataract, Corneal opacity, Low anterior hairline, Coloboma, Left ventricular ... |
OMIM:613153 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Noonan Syndrome 8 |
|
Curly hair, Epicanthus, Ventricular septal defect, Eczema, Cryptorchidism, Mitral regurgitation, ... |
OMIM:615355 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Corneal opacity |
ORPHA:1980 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... |
OMIM:610910 |
Trisomy 13 |
|
Cataract, Ventricular septal defect, Anophthalmia, Abnormal eyelash morphology, Cryptorchidism, A... |
ORPHA:3378 |
Costello Syndrome |
|
Keratoconus, Deep-set nails, Epicanthus, Ventricular septal defect, Abnormal dental enamel morpho... |
ORPHA:3071 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... |
OMIM:152950 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia, Multiple pterygia |
OMIM:601809 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Cataract, Malabsorption, Flexion contracture... |
OMIM:601675 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Keratoglobus, Astigmatism, Distal a... |
OMIM:108145 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Cleft palate, ... |
ORPHA:90654 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Corneal opacity, Cryptorchidism,... |
ORPHA:1867 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, Mitral valve prolapse, High palate, Sparse hair, Ptosis |
OMIM:615278 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... |
OMIM:609218 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration |
OMIM:607016 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Fl... |
ORPHA:35173 |
Chops Syndrome |
|
Curly hair, Cataract, Ventricular septal defect, Thick hair, Cryptorchidism, Synophrys, Splenomeg... |
OMIM:616368 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity |
ORPHA:88643 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Developmental glaucoma, Abnormal Descemet membrane morphology, Posterior synechi... |
OMIM:617315 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Esophageal atresia, Trache... |
ORPHA:77298 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... |
OMIM:608647 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Curly hair, Sparse scalp hair, Epicanthus, Atrial septal defect, Ventricula... |
OMIM:607721 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Nathalie Syndrome |
|
Arrhythmia, Cataract |
ORPHA:2663 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology |
ORPHA:1208 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough, Abn... |
ORPHA:724 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Anophthalmia, Abnormal size of the palpebral fissures, Corneal dystrophy, Campto... |
ORPHA:1101 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Epicanthus, Cataract, Hirsutism |
ORPHA:85288 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Corneal opacity |
ORPHA:2370 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Developmental catar... |
OMIM:618815 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Skin rash, Corneal opacity, Abnormal hair morphology, Abnormality of the nail... |
ORPHA:317 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... |
OMIM:614653 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e... |
OMIM:615877 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hepatomegaly, Splenomegaly, Loss of eyelashes, Corneal scarring, Increa... |
OMIM:263700 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Abnormal optic disc morphology, Bifid uvula, Decreased cor... |
ORPHA:293967 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology... |
ORPHA:1794 |
Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve |
OMIM:619492 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:615524 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... |
OMIM:616171 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Harel-Yoon Syndrome |
|
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Hypertrophic... |
OMIM:617183 |
Noonan Syndrome 5 |
|
Curly hair, Epicanthus, Sparse eyebrow, Cryptorchidism, Fine hair, Pulmonic stenosis, Small nail,... |
OMIM:611553 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Pulmonary hypoplasia, Ptosis |
OMIM:617468 |
Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Cataract 11, Multiple Types |
|
Microphthalmia, Cataract, Developmental cataract |
OMIM:610623 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma |
OMIM:120433 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Ptosis |
OMIM:255320 |
Microtriplication 11Q24.1 |
|
Keratoconus, Synophrys, Cleft palate, Upslanted palpebral fissure, Long eyelashes, Thick eyebrow |
ORPHA:289522 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Noonan Syndrome 6 |
|
Curly hair, Epicanthus, Long eyebrows, Cryptorchidism, Bilateral ptosis, Low posterior hairline, ... |
OMIM:613224 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma |
OMIM:148200 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Abnormal optic nerve morpholog... |
ORPHA:2526 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Walker-Warburg Syndrome |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Anopht... |
ORPHA:899 |
Noonan Syndrome 7 |
|
Curly hair, Epicanthus, Low posterior hairline, Impaired oropharyngeal swallow response, Pulmonic... |
OMIM:613706 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Cataract, Intestinal malrotation, Highly arched eyebrow, Ectopia lentis, Subm... |
ORPHA:2712 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Anophthalmia, C... |
OMIM:610125 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... |
ORPHA:573 |
Oculodentodigital Dysplasia |
|
Curly hair, Epicanthus, Brittle hair, Slow-growing hair, Ventricular septal defect, Cataract, Abn... |
ORPHA:2710 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Pulmonary hypoplasia |
OMIM:616733 |
Trichohepatoneurodevelopmental Syndrome |
|
Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hepatomega... |
OMIM:618268 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Epicanthus, Cataract, Pericallosal lipoma, Widow's peak, Joint contract... |
OMIM:136760 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Upslanted palpe... |
ORPHA:496790 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Recurre... |
ORPHA:254875 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
Warburg Micro Syndrome 1 |
|
Cryptorchidism, Optic atrophy, Hypertrichosis, Developmental cataract, Microcornea, Facial hypert... |
OMIM:600118 |
Microphthalmia, Isolated 6 |
|
Microcornea, Microphthalmia, Retinal fold |
OMIM:613517 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Ptosis, Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cataract, Knee flexion contracture, Upslanted palpebral fissure, Astigmatism, Camptodactyly, Long... |
OMIM:619694 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Cleft palate, Bilateral cleft lip and palate, Eyelid coloboma, Blepharophimosis, Ir... |
ORPHA:1104 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, Poplitea... |
OMIM:619339 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Ventricular escape rhythm, Sick sinus syndrome, Gastroesophageal reflux, Bradycardia... |
ORPHA:542306 |
Cat-Eye Syndrome |
|
Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Anal atresia |
ORPHA:195 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular sept... |
ORPHA:85194 |
Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormali... |
ORPHA:141099 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Abnormal EKG, ... |
ORPHA:93400 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Harlequin Ichthyosis |
|
Cataract, Erythroderma, Sudden cardiac death, Ectropion |
ORPHA:457 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Increased circulating ferritin concentration, ... |
OMIM:300635 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf... |
ORPHA:36238 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... |
ORPHA:179 |
Weill-Marchesani Syndrome 3 |
|
Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten... |
OMIM:614819 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... |
ORPHA:2414 |
Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Medial flaring of the eyebrow, Hooded eyelid, Sparse eyelashes, Dysplastic tricuspid valve, Mitra... |
OMIM:612863 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Abnormal hair morphology |
ORPHA:345 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Retinal dystrophy, Flexion contracture, Developmental cataract, Abnormal left ventricular functio... |
OMIM:613155 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Cataract, Ventricular septal defect |
OMIM:614876 |
Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Cleft palate, Microcornea, Blepharophimosis, Microphthalmia, Short palpebral fissure |
OMIM:601349 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Telecanthus, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Anterior... |
OMIM:619980 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Optic disc pallor, Hepatomegaly, Cataract, Ventricular septal defect, Cryptorchidism, Microphthalmia |
OMIM:613730 |
Transketolase Deficiency |
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Hepatomegaly, Cataract, Ventricular septal defect, Seborrheic dermatitis, Uveitis, Abnormal heart... |
ORPHA:488618 |
Neurooculocardiogenitourinary Syndrome |
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Epicanthus, Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorch... |
OMIM:618652 |
Refsum Disease, Classic |
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Cataract, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Rod-cone dystrophy,... |
OMIM:266500 |
Keratoconus Posticus Circumscriptus |
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Keratoconus, Central posterior corneal opacity, Cleft palate |
OMIM:244600 |
Naxos Disease |
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Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... |
OMIM:601214 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
Cockayne Syndrome Type 2 |
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Hepatomegaly, Anophthalmia, Scarring, Cryptorchidism, Flexion contracture, Uveitis, Developmental... |
ORPHA:90322 |
Trichodysplasia-Xeroderma Syndrome |
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Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Microphthalmia, Isolated, With Coloboma 7 |
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Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
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Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Epidermolysis Bullosa Acquisita |
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Abnormal hair morphology, Inflammation of the large intestine, Nail dystrophy, Abdominal pain |
ORPHA:46487 |
Mucolipidosis Iv |
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Corneal opacity, Achlorhydria, Optic atrophy, Opacification of the corneal stroma, Retinal degene... |
OMIM:252650 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Idiopathic Pulmonary Fibrosis |
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Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Immunodeficiency, Common Variable, 11 |
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Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Inflammation o... |
OMIM:615767 |
Rere-Related Neurodevelopmental Syndrome |
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Epicanthus, Ventricular septal defect, Cryptorchidism, Optic atrophy, Dysphagia, Abnormal heart m... |
ORPHA:494344 |
Atelosteogenesis, Type Ii |
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Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:256050 |
Meconium Aspiration Syndrome |
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Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... |
ORPHA:70588 |
Waardenburg Syndrome Type 3 |
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Telecanthus, Tracheomalacia, Atelectasis, Blepharophimosis, Acrocyanosis, Downslanted palpebral f... |
ORPHA:896 |
Clouston Syndrome |
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Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Cataract, Sparse e... |
OMIM:129500 |
Xeroderma Pigmentosum, Complementation Group G |
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Microphthalmia, Cataract |
OMIM:278780 |
Sympathetic Ophthalmia |
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Papilledema, Alopecia, Cataract, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retin... |
ORPHA:79098 |
Microphthalmia, Isolated, With Coloboma 9 |
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Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... |
OMIM:615145 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Splenomegaly, Cataract |
OMIM:619813 |
Juvenile Sialidosis Type 2 |
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Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Cherry red spot of t... |
ORPHA:93399 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
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Pulmonary hypoplasia |
OMIM:618174 |
Axenfeld-Rieger Syndrome, Type 3 |
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Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... |
OMIM:602482 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Cataract, Camptodactyly of finger, Microcornea, Long eyelashes, Microphthalmia |
ORPHA:48431 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
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Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... |
OMIM:620296 |
Leopard Syndrome 3 |
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Curly hair, Low posterior hairline, Abnormal aortic valve morphology, Abnormal mitral valve morph... |
OMIM:613707 |
Optic Atrophy-Intellectual Disability Syndrome |
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Keratoconus, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Optic atrophy, Upslanted ... |
ORPHA:401777 |
Spastic Paraparesis And Deafness |
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Cataract |
OMIM:312910 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Synoph... |
ORPHA:284169 |
Heart Defects-Limb Shortening Syndrome |
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Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Congenital Heart Defects, Multiple Types, 5 |
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Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Xfe Progeroid Syndrome |
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Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypertension, Enamel hypoplasia, At... |
OMIM:610965 |
Encephalocraniocutaneous Lipomatosis |
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Atrial septal defect, Alopecia, Ventricular septal defect, Sclerocornea, Cryptorchidism, Hypoplas... |
OMIM:613001 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
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Nausea and vomiting, Gastrointestinal hemorrhage, Poor appetite, Abnormal large intestine morphol... |
ORPHA:2198 |
Inflammatory Bowel Disease 3 |
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Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
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Ulcerative colitis |
OMIM:612354 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
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Atrial septal defect, Ventricular septal defect, Cataract, Low anterior hairline |
OMIM:608227 |
Frontofacionasal Dysplasia |
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Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Cleft palate, M... |
ORPHA:1791 |
Arterial Tortuosity Syndrome |
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Ventricular hypertrophy, Keratoconus, Inguinal hernia, Aortic regurgitation, Congenital diaphragm... |
OMIM:208050 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Pulmonary hypoplasia |
ORPHA:2141 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... |
ORPHA:324416 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Cone/cone-rod dystrophy, Hepatomegaly, Optic disc pallor, Limb joint contracture, Lagophthalmos, ... |
ORPHA:404454 |
Congenital Varicella Syndrome |
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Atypical scarring of skin, Microphthalmia, Cataract |
ORPHA:291 |
Bardet-Biedl Syndrome 18 |
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Rod-cone dystrophy, Cataract, Retinal dystrophy |
OMIM:615995 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
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Hepatomegaly, Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Joint contrac... |
OMIM:615704 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
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Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Keratoconus, Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Fragile nails |
OMIM:242150 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
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Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Corneal Dystrophy, Reis-Bucklers Type |
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Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Respiratory distress, Recurrent respiratory infections, Epicanthus, Dyspnea, Respiratory failure,... |
ORPHA:2759 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Maternally-Inherited Diabetes And Deafness |
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Cataract, Abnormal chorioretinal morphology, Malabsorption, Congestive heart failure, Hypertensio... |
ORPHA:225 |
Alagille Syndrome |
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Keratoconus, Hepatomegaly, Ventricular septal defect, Corneal dystrophy, Telangiectasia of the sk... |
ORPHA:52 |
Pierpont Syndrome |
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Telecanthus, Cryptorchidism, Abnormal subcutaneous fat tissue distribution, Microcornea, Narrow p... |
ORPHA:487825 |
8Q21.11 Microdeletion Syndrome |
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Epicanthus, Cataract, Iris hypopigmentation, Eczema, Sclerocornea, Corneal opacity, Camptodactyly... |
ORPHA:284160 |
Lethal Congenital Contracture Syndrome 1 |
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Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Diarrhea 8, Secretory Sodium, Congenital |
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Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Macular Dystrophy, Corneal |
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Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero... |
OMIM:217800 |
Ectodermal Dysplasia-Blindness Syndrome |
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Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Cataract |
OMIM:617133 |
Microphthalmia, Isolated 2 |
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Microphthalmia, Opacification of the corneal stroma |
OMIM:610093 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Hepatomegaly, Cataract, Reduced systolic function, Dilated cardiomyopathy, Microphthalmia, Pancre... |
OMIM:618805 |
Spastic Paraparesis-Deafness Syndrome |
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Cataract |
ORPHA:2815 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
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Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma |
OMIM:610023 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
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Cryptorchidism, Epicanthus, Cataract, Chorioretinal coloboma |
ORPHA:2489 |
Avian Influenza |
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Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
Agnathia-Otocephaly Complex |
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Respiratory distress, Downslanted palpebral fissures, Pulmonary hypoplasia, Tracheomalacia |
OMIM:202650 |
Leopard Syndrome 2 |
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Curly hair, Epicanthus, Downslanted palpebral fissures, Hypertrophic cardiomyopathy |
OMIM:611554 |
Weill-Marchesani Syndrome |
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Cataract, Ventricular septal defect, Ectopia lentis, Mitral regurgitation, Pulmonic stenosis, Aor... |
ORPHA:3449 |
Trichothiodystrophy |
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Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, High... |
ORPHA:33364 |
Mulibrey Nanism |
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Hepatomegaly, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Microglossia, Myocardial... |
OMIM:253250 |
3Q29 Microduplication Syndrome |
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Cataract, Ventricular septal defect, Sclerocornea, Camptodactyly of toe, Cleft palate, Ectopic an... |
ORPHA:251038 |
Cofs Syndrome |
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Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Optic atrophy, Microphtha... |
ORPHA:1466 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... |
ORPHA:747 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
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Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Moyamoya Disease With Early-Onset Achalasia |
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Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
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Cataract, Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoart... |
ORPHA:1345 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Otitis media, Atrial septa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Coloboma, High palate, Gastroesophageal reflux, Otitis media, Atrial septa... |
ORPHA:353277 |
Microphthalmia With Linear Skin Defects Syndrome |
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Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Congenital diaph... |
ORPHA:2556 |
Sandestig-Stefanova Syndrome |
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Epicanthus, Laterally extended eyebrow, Highly arched eyebrow, Muscular ventricular septal defect... |
OMIM:618804 |
Immunodeficiency 11B With Atopic Dermatitis |
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Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit... |
OMIM:617638 |
Ceroid Lipofuscinosis, Neuronal, 3 |
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Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d... |
OMIM:204200 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
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Bicuspid aortic valve, Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacar... |
OMIM:604381 |
Wagner Vitreoretinopathy |
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Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia, Ankyloblepharon |
ORPHA:85275 |
Ectodermal Dysplasia 4, Hair/Nail Type |
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Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Baraitser-Winter Syndrome 1 |
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Epicanthus, Bicuspid aortic valve, Highly arched eyebrow, Cryptorchidism, Low posterior hairline,... |
OMIM:243310 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
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Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Alpha-1-Antitrypsin Deficiency |
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Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... |
OMIM:613490 |
Cardiomyopathy, Dilated, 1R |
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Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Infantile Spasms-Broad Thumbs Syndrome |
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Optic disc pallor, Vaginal hernia, Cataract, Hypertrophic cardiomyopathy, Downslanted palpebral f... |
ORPHA:3173 |
Familial Exudative Vitreoretinopathy |
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Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... |
ORPHA:891 |
Achondrogenesis Type 2 |
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Pulmonary hypoplasia, Cardiorespiratory arrest |
ORPHA:93296 |
Cystic Hamartoma Of Lung And Kidney |
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Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency |
ORPHA:2111 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Neonatal death, Pterygium, Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:224410 |
Acrokeratoderma, Hereditary Papulotranslucent |
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Fine hair |
OMIM:101840 |
Idiopathic Pulmonary Hemosiderosis |
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Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve... |
ORPHA:99931 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
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Clinodactyly of the 5th finger, Bicuspid aortic valve, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Renal Tubular Dysgenesis |
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Pulmonary hypoplasia, Respiratory insufficiency |
OMIM:267430 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
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Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
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Bilateral ptosis, Cataract, Optic atrophy, Dysphagia |
ORPHA:329314 |
Noonan Syndrome 14 |
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