Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Athrombia, Essential |
|
Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation |
OMIM:209050 |
Myxoma, Intracardiac |
|
Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
OMIM:255960 |
Ethanolaminosis |
|
Cardiomegaly, Death in infancy |
OMIM:227150 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:187950 |
Glanzmann Thrombasthenia 2 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:619267 |
Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Keratoglobus, Red hair, Epicanthus, Mitral valve prolapse, Abnormal co... |
OMIM:229200 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Hypopigmentation of hair, Abnormal he... |
ORPHA:1067 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Cardiofaciocutaneous Syndrome 4 |
|
Curly hair, Decreased response to growth hormone stimulation test, Epicanthus, Abnormal aortic va... |
OMIM:615280 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair |
OMIM:616760 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper respirator... |
OMIM:263000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Micro... |
OMIM:212550 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Noonan Syndrome 9 |
|
Downslanted palpebral fissures, Sparse eyebrow, Curly hair, Ventricular septal defect, Prominent ... |
OMIM:616559 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Conjunctivitis, Enamel hypoplasia, Alopecia, Flexion contracture, Esophageal stricture, Corneal s... |
OMIM:226600 |
Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair |
OMIM:617252 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma, Microphthalmia, Orbital cyst, Microcornea |
OMIM:251505 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... |
OMIM:619773 |
Brittle Cornea Syndrome |
|
Keratoglobus, Hernia, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Mitral... |
ORPHA:90354 |
Bronchopulmonary Dysplasia |
|
Central apnea, Hyperoxemia, Pulmonary sequestration, Tracheobronchomalacia, Abnormal respiratory ... |
ORPHA:70589 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Microphthalmia, Corneal opacity, Hepatomegaly, Median cleft palate |
ORPHA:2432 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Recurrent respiratory infections, Death in childhood, Respiratory failure |
OMIM:253300 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Knee flexion contracture, Recurrent bacterial skin infections, Sparse eyebrow, Corneal scarring, ... |
OMIM:148210 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Curly hair, Pili torti, Brittle hair, Corneal opacity, Curly ey... |
OMIM:602400 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:616428 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Ptosis, Cataract, Iris coloboma, Microphthalmia, Corneal op... |
ORPHA:1473 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Nodular pattern on pulmonary HRCT, Cough |
ORPHA:60026 |
Dermatitis, Atopic |
|
Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, Pruritus, Keratoc... |
OMIM:603165 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... |
OMIM:610921 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... |
OMIM:265120 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Cataract, Hepatomegaly |
ORPHA:79281 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Tracheomalacia, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Asbestos Intoxication |
|
Cyanosis, Abnormal pulmonary interstitial morphology, Respiratory failure, Exertional dyspnea, La... |
ORPHA:2302 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
High palate, Epicanthus, Microcornea, Cataract, Microphthalmia, Upslanted palpebral fissure |
ORPHA:2528 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Downslanted palpebral fissures, High palate, Epicanthus, Cataract, Hepatomegaly |
OMIM:614882 |
Distal Monosomy 6P |
|
Downslanted palpebral fissures, Posterior embryotoxon, Epicanthus, Hypoplasia of the iris, Anteri... |
ORPHA:96125 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Anterior synechiae of the anterior chamber, Microcornea, Hypopigmentation ... |
ORPHA:3214 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract, Microphthalmia |
OMIM:156850 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
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 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Juvenile cataract, Uncombable hair |
OMIM:617251 |
Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula |
ORPHA:351 |
Mucolipidosis Type Iii |
|
Abnormal aortic valve morphology, Inguinal hernia, Corneal opacity, Cleft palate, Abnormal heart ... |
ORPHA:577 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... |
OMIM:217300 |
Bilateral Acute Depigmentation Of The Iris |
|
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Osteomyelitis, Corneal scarring, Nail dysplasia, Keratitis, Opacification of t... |
OMIM:256800 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Decreased prealbumin level, Weight loss, Recurrent aspiration pneumonia,... |
ORPHA:930 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Pneumothorax, Abnormal breath sound, Epicanthus, Asthma, Hypoxemia, Pulmonary hypoplasi... |
ORPHA:2257 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
Larynx Atresia |
|
Respiratory insufficiency, Recurrent respiratory infections |
ORPHA:1202 |
Woolly Hair Nevus |
|
Patchy hypopigmentation of hair, Curly hair, Fine hair, Congenital posterior occipital alopecia, ... |
ORPHA:79414 |
Copper Deficiency, Familial Benign |
|
Curly hair, Decreased circulating copper concentration, Failure to thrive, Early balding, Seborrh... |
OMIM:121270 |
Woolly Hair |
|
Abnormal pupil morphology, Sparse body hair, Abnormal retinal morphology, Sparse lateral eyebrow,... |
ORPHA:170 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Leber Congenital Amaurosis 1 |
|
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Hepatomegaly, Fundus atrophy, ... |
OMIM:204000 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma, Cryptorchidism |
OMIM:274205 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Cyanosis, Desquamative interstitial pneumonitis, Bronchiectasis, Decre... |
OMIM:610913 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Neonatal death, Pulmonary hypoplasia, Neonatal respiratory distress |
OMIM:619003 |
Hurler-Scheie Syndrome |
|
Rhinitis, Hernia, Abnormal heart valve morphology, Corneal opacity, Hepatomegaly, Generalized hir... |
ORPHA:93476 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Phacoanaphylactic Uveitis |
|
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... |
ORPHA:209959 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Alopecia, Corneal erosion, Abnormality of the nail, Ectropion, Erythroderma, Keratitis, Pruritus |
ORPHA:79394 |
Gómez-López-Hernández Syndrome |
|
Alopecia of scalp, Toenail dysplasia, Telecanthus, Corneal opacity |
ORPHA:1532 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Corneal scarring, Scarring, Hepatocellular carcinoma, Cutane... |
ORPHA:101330 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Bronchiectasis, Frontal upsweep of hair, Broad eyebrow, Corneal scarring, Recurrent pneumonia, Co... |
OMIM:301220 |
Winchester Syndrome |
|
Hirsutism, Corneal opacity |
OMIM:277950 |
Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Ankyloblepharon, Anophthalmia, Sclerocornea |
OMIM:611038 |
Noonan Syndrome 4 |
|
Downslanted palpebral fissures, Sparse eyebrow, High anterior hairline, Curly hair, Ventricular s... |
OMIM:610733 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory fai... |
ORPHA:70587 |
Intermediate Uveitis |
|
Tubulointerstitial nephritis, Macular edema, Vitreous haze, Posterior synechiae of the anterior c... |
ORPHA:279914 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Noonan Syndrome 10 |
|
Downslanted palpebral fissures, Sparse eyebrow, Curly hair, High palate, Ventricular septal defec... |
OMIM:616564 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Anophthalmia, Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Nail dysplasi... |
ORPHA:139471 |
Witkop Syndrome |
|
Small nail, Fine hair, Nail pits, Ridged nail, Concave nail, Sparse hair |
OMIM:189500 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... |
OMIM:619466 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Respiratory insufficiency, Ptosis, Respiratory tract infection, Neonatal respiratory distress |
OMIM:616326 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus, Attenuation of retinal blood vessels |
OMIM:613826 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... |
OMIM:604393 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... |
ORPHA:60032 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiectasis, Hypoxemia, Bronchiolitis obliterans, Reduced forced ... |
ORPHA:1303 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in childhood, Pulmonary hypoplasia, Death in infancy |
OMIM:614096 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the iris, Skin rash, Atrial septal defect, Abnor... |
ORPHA:290 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... |
ORPHA:137596 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Brittle Cornea Syndrome 2 |
|
Umbilical hernia, Keratoglobus, Megalocornea, Inguinal hernia, Decreased corneal thickness, Corne... |
OMIM:614170 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Congenital Diaphragmatic Hernia |
|
Hypoxemia, Pulmonary hypoplasia, Respiratory distress |
ORPHA:2140 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Downslanted palpebral fissures, Phakodonesis, High palate, Anterior synechiae of the anterior cha... |
OMIM:601552 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Dyspnea, Neonatal respiratory distress, Atelectasis, Tachy... |
OMIM:267450 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pleura morphology, Restrictive ventilatory defect, Cough, Abn... |
ORPHA:724 |
Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Corneal scarring, Gastrointestinal dysmotility, Corneal ulceration, Recurrent skin infections |
OMIM:616488 |
Microphthalmia, Syndromic 13 |
|
Microcornea, Ptosis, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
OMIM:300915 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Coloboma, Cataract, Microphthalmia, Clef... |
ORPHA:1617 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... |
ORPHA:90117 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... |
OMIM:221900 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Trichorrhexis nodosa, Diarrhea, Chronic diarrhea, Brittle hair, Villous atrophy,... |
OMIM:614602 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Iris coloboma, Phthisis bulbi, Microphakia, Rod-cone dystrophy, Iris cys... |
OMIM:612109 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Small nail, Trichorrhexis nodosa, Ventricular septal defect, Optic atrophy, Epicanthus, Brittle h... |
OMIM:234050 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Progressive cataract |
OMIM:604219 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... |
OMIM:613835 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Hypoxemia, L... |
OMIM:610910 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Coloboma, Left ventricular hypertrophy, Cataract, Microphthalmia, Corneal opacity, Retinal detach... |
OMIM:613153 |
Khan-Khan-Katsanis Syndrome |
|
Patent foramen ovale, Epiblepharon, Corneal scarring, Buphthalmos, Peters anomaly, Highly arched ... |
OMIM:618460 |
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 guttata, Corneal dystrophy |
OMIM:610158 |
Corneal Dystrophy, Congenital Stromal |
|
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Weight loss, Abdominal pain, Ulcerative... |
OMIM:266600 |
Noonan Syndrome 8 |
|
Downslanted palpebral fissures, Curly hair, Ventricular septal defect, Epicanthus, Left ventricul... |
OMIM:615355 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Hepatomegaly |
ORPHA:1980 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Trisomy 13 |
|
Hernia, Anophthalmia, Ventricular septal defect, Optic atrophy, Aplasia/Hypoplasia of the iris, A... |
ORPHA:3378 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Costello Syndrome |
|
Gastroesophageal reflux, Hypoplastic toenails, Narrow palate, Ventricular septal defect, Epicanth... |
ORPHA:3071 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Heart murmur, Decreased testicular size, Congenital abnormal hair pattern, Cataract, Ab... |
ORPHA:1867 |
Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Pulmonary hypoplasia |
OMIM:601809 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Abnormal platelet coun... |
OMIM:614201 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... |
ORPHA:723 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... |
OMIM:610256 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, High palate, Mitral valve prolapse, Fine hair, Ptosis, Absent eyebrow, Sparse hair |
OMIM:615278 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Cleft palate, Abnormal vitreous humor... |
ORPHA:90654 |
Keratoconus 9 |
|
Decreased corneal thickness, Keratoconus |
OMIM:617928 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Chops Syndrome |
|
Patent foramen ovale, Gastroesophageal reflux, Curly hair, Aspiration pneumonia, Ventricular sept... |
OMIM:616368 |
Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Tiger tail banding, Pili torti, Trichorrhexis nodosa, Brittle hair, Malabsor... |
OMIM:601675 |
Foveal Hypoplasia 2 |
|
Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... |
OMIM:609218 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Downslanted palpebral fissures, Sparse eyebrow, Flexion contracture, High palate, Coarse hair, Sc... |
ORPHA:35173 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Downslanted palpebral fissures, Retinal fold, Upslanted palpebral fissure, Optic atrophy, Epicant... |
OMIM:152950 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Abnormal intestine morphology, Dysphag... |
ORPHA:70482 |
Acute Interstitial Pneumonia |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribroncho... |
ORPHA:79126 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration, Corneal opacity |
OMIM:607016 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia |
ORPHA:2631 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Iris colo... |
ORPHA:77298 |
Arthrogryposis, Distal, Type 5 |
|
Congenital finger flexion contractures, Keratoglobus, Distal arthrogryposis, Retinal fold, High p... |
OMIM:108145 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Downslanted palpebral fissures, Sparse scalp hair, Loose anagen hair, Ventricular septal defect, ... |
OMIM:607721 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia, Colitis |
ORPHA:88643 |
Ciliary Dyskinesia, Primary, 5 |
|
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:608647 |
Nathalie Syndrome |
|
Cataract, Arrhythmia |
ORPHA:2663 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Megalocornea, Anophthalmia, Aniridia, Tricuspid valve prolapse, Inguinal... |
ORPHA:1101 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... |
ORPHA:178320 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Abnormal tricuspid valve morphology |
ORPHA:1208 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Inguinal hernia, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress, Recurrent respirato... |
ORPHA:2004 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal cardiac septum morphology |
ORPHA:2370 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormal testis morphology, Abnormality of retinal pigmentation, Cataract, Atypica... |
ORPHA:791 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Decreased testicular size, Abnormal optic disc morphology, Bifid uvula, Contracture of the proxim... |
ORPHA:293967 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... |
ORPHA:137902 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Flexion contracture, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy,... |
OMIM:618815 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Sparse scalp hair, Absent eyelashes, Punctate keratitis, Scarring alopecia of sca... |
OMIM:602540 |
Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal testis morphology, Skin rash, Abnormality of the nail, Cataract, Corneal opaci... |
ORPHA:317 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... |
OMIM:608553 |
Porphyria, Congenital Erythropoietic |
|
Conjunctivitis, Alopecia, Joint contracture of the hand, Corneal scarring, Hypertrichosis, Absent... |
OMIM:263700 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:1794 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia |
OMIM:616531 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress |
OMIM:619057 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:616867 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hirsutism, Epicanthus |
ORPHA:85288 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, Anophthalmia, Coloboma, Epicanthus, Long eyelashes, Microcornea, Cataract, Micro... |
OMIM:615877 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy |
OMIM:619492 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Gastroesophageal reflux, Flexion contracture, High palate, Ventricular septal... |
OMIM:614653 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, Macrothr... |
OMIM:187800 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Microphthalmia, Optic disc pa... |
OMIM:616171 |
Noonan Syndrome 5 |
|
Downslanted palpebral fissures, Sparse eyebrow, Curly hair, Small nail, Epicanthus, Atrial septal... |
OMIM:611553 |
Cataract 11, Multiple Types |
|
Cataract, Microphthalmia, Developmental cataract |
OMIM:610623 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Ptosis, Pulmonary hypoplasia, Stillbirth |
OMIM:617468 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Microtriplication 11Q24.1 |
|
Synophrys, Long eyelashes, Upslanted palpebral fissure, Keratoconus, Thick eyebrow, Cleft palate |
ORPHA:289522 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis |
OMIM:613737 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cleft palate |
OMIM:120433 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Respiratory insufficiency, Ptosis, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:255320 |
Harel-Yoon Syndrome |
|
Optic atrophy, Developmental cataract, Hypertrophic cardiomyopathy, Corneal opacity, Upslanted pa... |
OMIM:617183 |
Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
Nphp3-Related Meckel-Like Syndrome |
|
Pulmonary hypoplasia |
ORPHA:3032 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
Noonan Syndrome 6 |
|
Downslanted palpebral fissures, Curly hair, Bilateral ptosis, Epicanthus, Long eyebrows, Hypertro... |
OMIM:613224 |
Keratoconus 1 |
|
Astigmatism, Keratoconus |
OMIM:148300 |
Interstitial Lung Disease 1 |
|
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... |
OMIM:619611 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Epiretinal membrane, Conjunctival hyperemia |
OMIM:148200 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... |
ORPHA:79127 |
Oculofaciocardiodental Syndrome |
|
Abnormal cardiac septum morphology, Mitral valve prolapse, Flexion contracture of the 2nd toe, Su... |
ORPHA:2712 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Idiopathic Panuveitis |
|
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... |
ORPHA:280921 |
Walker-Warburg Syndrome |
|
Anophthalmia, Optic atrophy, Retinal dystrophy, Bifid uvula, Submucous cleft hard palate, Retinal... |
ORPHA:899 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Curly hair, Ventricular septal defect, Optic atrophy, Epicanthus, Brittl... |
ORPHA:2710 |
Noonan Syndrome 7 |
|
Downslanted palpebral fissures, Curly hair, Epicanthus, Impaired oropharyngeal swallow response, ... |
OMIM:613706 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormal nasolacrimal system morphology, Retinopathy, Leukonychia, Optic atrophy, Epicanthus, Abn... |
ORPHA:2526 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia, Respiratory distress |
OMIM:616733 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Cataract, Abnormal... |
ORPHA:573 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death, Bilateral lung agenesis |
OMIM:601612 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Trichohepatoneurodevelopmental Syndrome |
|
Recurrent pancreatitis, Epicanthus, Synophrys, Hepatomegaly, Coarse hair, Splenomegaly, Ventricul... |
OMIM:618268 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... |
OMIM:616414 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Microphthalmia, Cataract |
OMIM:610092 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Frontonasal Dysplasia 1 |
|
Coloboma, Joint contracture of the hand, Epicanthus, Widow's peak, Camptodactyly, Ptosis, Catarac... |
OMIM:136760 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Bilateral ptosis, Ventilator dependence with inability to wean, Respir... |
ORPHA:254875 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Multiple lipomas, Sparse eyebrow, Lipomas of eyelids, Coloboma, Lacrimal punctal atresia, Widow's... |
ORPHA:2399 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Coloboma, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Ectopic posterior... |
OMIM:610125 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Microphthalmia, C... |
OMIM:251270 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Blepharophimosis, Iris coloboma, Eyelid coloboma, Cleft palate, Bilateral cleft lip... |
ORPHA:1104 |
Warburg Micro Syndrome 1 |
|
Optic atrophy, Developmental cataract, Microcornea, Ptosis, Microphthalmia, Facial hypertrichosis... |
OMIM:600118 |
Microphthalmia, Isolated 6 |
|
Retinal fold, Microphthalmia, Microcornea |
OMIM:613517 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology, Ptosis |
ORPHA:2868 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Bartsocas-Papas Syndrome 2 |
|
Ankyloblepharon, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Microphthalmia, ... |
OMIM:619339 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Short palpebral fissure, Hooded eyelid, Medial flaring of the eyebrow, Mitral valve prolapse, Atr... |
OMIM:612863 |
Immunodeficiency 51 |
|
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... |
OMIM:613953 |
Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Recurrent respiratory infections, Cough, Respiratory distress |
ORPHA:77260 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Cataract, Corneal opacity, Cr... |
ORPHA:496790 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Nonp... |
ORPHA:36238 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Anal atresia, Iris coloboma, Microphthalmia, Chorioretinal coloboma |
ORPHA:195 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... |
ORPHA:60033 |
Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Sparse lateral eyebrow, Camptodactyly, Long palpebral fissure, Astigmat... |
OMIM:619694 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Recurrent respiratory infections, Death in infancy |
ORPHA:139406 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Ventricular septal defect, Iris hypopigmentation, Cataract, Micropht... |
ORPHA:85194 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Astigmatism, Ptosis, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Proboscis Lateralis |
|
Abnormal nasolacrimal system morphology, Epicanthus, Abnormality of the ocular adnexa, Optic nerv... |
ORPHA:141099 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Downslanted palpebral fissures, Synophrys, Long palpebral fissure, Recurrent otit... |
OMIM:602562 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Hepatitis, Decreased circulating antibody level, Erythema nodosum, Inflammation of ... |
OMIM:300635 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Cataract, Ventricular septal defect, Hepatomegaly |
OMIM:614876 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:614676 |
Weill-Marchesani Syndrome 3 |
|
Ectopia lentis, Shallow anterior chamber, Aortic valve stenosis, Microspherophakia, Pulmonic sten... |
OMIM:614819 |
Congenital Sialidosis Type 2 |
|
Telangiectasia, Cherry red spot of the macula, Optic atrophy, Abnormal EKG, Generalized hypertric... |
ORPHA:93400 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Inflammatory abnormality of the eye, Vit... |
ORPHA:179 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Downslanted palpebral fissures, Curly hair, Ventricular septal defect, Aortic ... |
OMIM:619980 |
Autosomal Dominant Keratitis |
|
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Refsum Disease, Classic |
|
Rod-cone dystrophy, Retinal degeneration, Congestive heart failure, Ptosis, Cataract, Arrhythmia,... |
OMIM:266500 |
Harlequin Ichthyosis |
|
Sudden cardiac death, Cataract, Ectropion, Erythroderma |
ORPHA:457 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Naxos Disease |
|
Abnormality of hair texture, Sparse scalp hair, Curly hair, Woolly hair |
ORPHA:34217 |
Cystic Hamartoma Of Lung And Kidney |
|
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
Microphthalmia, Syndromic 8 |
|
Short palpebral fissure, Blepharophimosis, Microcornea, Microphthalmia, Cryptorchidism, Cleft palate |
OMIM:601349 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Dissecting Cellulitis Of The Scalp |
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Abnormal hair morphology, Pruritus, Recurrent skin infections |
ORPHA:345 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
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Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyel... |
ORPHA:2891 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Ventricular septal defect, Cataract, Microphthalmia, Hepatomegaly, Cryptorchidism, Optic disc pallor |
OMIM:613730 |
Congenital Pulmonary Lymphangiectasia |
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Pulmonary arterial hypertension, Cyanosis, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:2414 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
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Flexion contracture, Retinal dystrophy, Macroglossia, Developmental cataract, Abnormal left ventr... |
OMIM:613155 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... |
ORPHA:411703 |
Atelosteogenesis, Type Ii |
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Respiratory insufficiency, Pulmonary hypoplasia, Stillbirth, Death in infancy |
OMIM:256050 |
Cockayne Syndrome Type 2 |
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Conjunctivitis, Enamel hypoplasia, Flexion contracture, Anophthalmia, Scarring, Developmental cat... |
ORPHA:90322 |
Pulmonary Hemosiderosis |
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Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage |
OMIM:178550 |
Microphthalmia, Syndromic 12 |
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Pulmonary hypoplasia |
OMIM:615524 |
Idiopathic Pulmonary Fibrosis |
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Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... |
ORPHA:2032 |
Trichodysplasia-Xeroderma Syndrome |
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Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
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Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia |
OMIM:613148 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Neurooculocardiogenitourinary Syndrome |
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Patent foramen ovale, Ventricular septal defect, Coloboma, Epicanthus, Bilateral cryptorchidism, ... |
OMIM:618652 |
Immunodeficiency, Common Variable, 11 |
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Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Failure to... |
OMIM:615767 |
Xeroderma Pigmentosum, Complementation Group G |
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Cataract, Microphthalmia |
OMIM:278780 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
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Gastroesophageal reflux, Patent foramen ovale, Retinal degeneration, Ventricular escape rhythm, A... |
ORPHA:542306 |
Epidermolysis Bullosa Acquisita |
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Abnormal hair morphology, Abdominal pain, Inflammation of the large intestine, Nail dystrophy |
ORPHA:46487 |
Naxos Disease |
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Sudden cardiac death, Ventricular arrhythmia, Palpitations, Subungual hyperkeratosis, Sparse body... |
OMIM:601214 |
Clouston Syndrome |
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Conjunctivitis, Sparse eyebrow, Alopecia, Small nail, Brittle hair, Alopecia totalis, Fine hair, ... |
OMIM:129500 |
Waardenburg Syndrome Type 3 |
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Downslanted palpebral fissures, Blepharophimosis, Acrocyanosis, Tracheomalacia, Thick eyebrow, Te... |
ORPHA:896 |
Spastic Paraparesis And Deafness |
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Cataract |
OMIM:312910 |
Rere-Related Neurodevelopmental Syndrome |
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Gastroesophageal reflux, Ventricular septal defect, Optic atrophy, Epicanthus, Blepharophimosis, ... |
ORPHA:494344 |
Keratoconus Posticus Circumscriptus |
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Cleft palate, Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Microphthalmia, Isolated, With Coloboma 9 |
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Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Iris coloboma,... |
OMIM:615145 |
Leopard Syndrome 3 |
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Downslanted palpebral fissures, Curly hair, Abnormal mitral valve morphology, Abnormal aortic val... |
OMIM:613707 |
Mucolipidosis Iv |
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Achlorhydria, Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal ... |
OMIM:252650 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Camptodactyly of finger, Long eyelashes, Microcornea, Cataract, Microphthalmia |
ORPHA:48431 |
Juvenile Sialidosis Type 2 |
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Cherry red spot of the macula, Dysphagia, Optic atrophy, Generalized hypertrichosis, Hepatospleno... |
ORPHA:93399 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Cataract, Splenomegaly |
OMIM:619813 |
Axenfeld-Rieger Syndrome, Type 3 |
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Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Atria... |
OMIM:602482 |
Transketolase Deficiency |
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Conjunctivitis, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Uveitis, C... |
ORPHA:488618 |
Meconium Aspiration Syndrome |
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Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
Congenital Heart Defects, Multiple Types, 5 |
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Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Xfe Progeroid Syndrome |
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Enamel hypoplasia, Optic atrophy, Corneal scarring, Hypertension, Attenuation of retinal blood ve... |
OMIM:610965 |
Frontofacionasal Dysplasia |
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Brushfield spots, Aplasia/Hypoplasia of the eyebrow, Blepharophimosis, Limbal dermoid, Microcorne... |
ORPHA:1791 |
Heart Defects-Limb Shortening Syndrome |
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Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... |
ORPHA:1354 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Neonatal death, Narrow palpebral fissure, Pulmonary hypoplasia, Stillbirth |
OMIM:236500 |
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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Cataract, Low anterior hairline, Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Congenital Varicella Syndrome |
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Atypical scarring of skin, Cataract, Microphthalmia |
ORPHA:291 |
Bardet-Biedl Syndrome 18 |
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Retinal dystrophy, Cataract, Rod-cone dystrophy |
OMIM:615995 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
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Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia, Micropht... |
ORPHA:324416 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Pulmonary hypoplasia |
ORPHA:2141 |
Encephalocraniocutaneous Lipomatosis |
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Subvalvular aortic stenosis, Alopecia, Ventricular septal defect, Hypoplasia of the iris, Limbal ... |
OMIM:613001 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
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Sparse eyebrow, Alopecia, Erysipelas, Cataract, Nail dysplasia, Hepatomegaly, Sparse eyelashes, J... |
OMIM:615704 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
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Downslanted palpebral fissures, Epicanthus, Respiratory distress, Dyspnea, Respiratory failure, R... |
ORPHA:2759 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
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Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Corneal Dystrophy, Reis-Bucklers Type |
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Corneal erosion, Corneal dystrophy, Palpebral edema, Corneal opacity, Opacification of the cornea... |
OMIM:608470 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Pigmentary retinopathy, Lagophthalmos, Cone/cone-rod dystrophy, Optic atrophy, Bilateral ptosis, ... |
ORPHA:404454 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
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Gastroesophageal reflux, Poor suck, Weight loss, Poor appetite, Abnormal large intestine morpholo... |
ORPHA:2198 |
Diarrhea 8, Secretory Sodium, Congenital |
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Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention |
OMIM:616868 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
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Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Maternally-Inherited Diabetes And Deafness |
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Retinopathy, Malabsorption, Abnormal chorioretinal morphology, Congestive heart failure, Hyperten... |
ORPHA:225 |
Lethal Congenital Contracture Syndrome 1 |
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Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
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Cataract, Cryptorchidism, Chorioretinal coloboma, Epicanthus |
ORPHA:2489 |
Optic Atrophy-Intellectual Disability Syndrome |
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Optic atrophy, Epicanthus, Optic disc hypoplasia, Optic nerve hypoplasia, Upslanted palpebral fis... |
ORPHA:401777 |
Spastic Paraparesis-Deafness Syndrome |
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Cataract |
ORPHA:2815 |
Arterial Tortuosity Syndrome |
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Short palpebral fissure, Ventricular hypertrophy, Downslanted palpebral fissures, Flexion contrac... |
OMIM:208050 |
Macular Dystrophy, Corneal |
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Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Ectodermal Dysplasia-Blindness Syndrome |
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Keratoconjunctivitis sicca, Fine hair, Microcornea, Abnormal fingernail morphology, Cataract, Mic... |
ORPHA:1806 |
8Q21.11 Microdeletion Syndrome |
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Camptodactyly of finger, Downslanted palpebral fissures, High palate, Epicanthus, Blepharophimosi... |
ORPHA:284160 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
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Cataract |
OMIM:617133 |
Microphthalmia, Isolated 2 |
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Opacification of the corneal stroma, Microphthalmia |
OMIM:610093 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Cyanosis, Intraalveolar phospholipid accumulation, Hypoxemia, Crackles, Restrictive ventilatory d... |
ORPHA:747 |
Dehydrated Hereditary Stomatocytosis |
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Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Pierpont Syndrome |
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High anterior hairline, Abnormal subcutaneous fat tissue distribution, Narrow palpebral fissure, ... |
ORPHA:487825 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Conjunctivitis, Alopecia, Fragile nails, Erythroderma, Keratoconus, Sparse hair |
OMIM:242150 |
Avian Influenza |
|
Conjunctivitis, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Ple... |
ORPHA:454836 |
Ciliary Dyskinesia, Primary, 44 |
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Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Neonatal respiratory distress... |
OMIM:618781 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Dilated cardiomyopathy, Cataract, Microphthalmia, Hepatomegaly, Reduced systolic function, Pancre... |
OMIM:618805 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal nasolacrimal system morphology, Abnormality of the anus, Abnormal cardiac septum morphol... |
ORPHA:2556 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
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Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia |
OMIM:610023 |
Mulibrey Nanism |
|
Enamel hypoplasia, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Astig... |
OMIM:253250 |
Weill-Marchesani Syndrome |
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Ventricular septal defect, Ectopia lentis, Cataract, Mitral regurgitation, Aortic valve stenosis,... |
ORPHA:3449 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
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Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Cataract... |
ORPHA:1345 |
Trichothiodystrophy |
|
Tiger tail banding, Multiple joint contractures, Epicanthus, Macular degeneration, Keratoconjunct... |
ORPHA:33364 |
Leopard Syndrome 2 |
|
Downslanted palpebral fissures, Hypertrophic cardiomyopathy, Curly hair, Epicanthus |
OMIM:611554 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... |
OMIM:616108 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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Short palpebral fissure, Ventricular hypertrophy, Downslanted palpebral fissures, Ventricular sep... |
ORPHA:284169 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Cofs Syndrome |
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Camptodactyly of finger, Optic atrophy, Abnormality of retinal pigmentation, Cataract, Microphtha... |
ORPHA:1466 |
3Q29 Microduplication Syndrome |
|
Downslanted palpebral fissures, High palate, Ventricular septal defect, Ectopic anus, Camptodacty... |
ORPHA:251038 |
Idiopathic Pulmonary Hemosiderosis |
|
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Reticular pattern on pulmonary HR... |
ORPHA:99931 |
Alagille Syndrome |
|
Abnormal pupil morphology, Downslanted palpebral fissures, Ventricular septal defect, Hypertensio... |
ORPHA:52 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Bronchiectasis, Chronic pulmonary obstruction, Dyspnea, Cough, Panacinar emph... |
OMIM:613490 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, Clinodactyly of the 5th fin... |
OMIM:604381 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Asthma, Hypoxemia, Respiratory distr... |
OMIM:610978 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Ankyloblepharon, Microphthalmia, Anophthalmia |
ORPHA:85275 |
Achondrogenesis Type 2 |
|
Cardiorespiratory arrest, Pulmonary hypoplasia |
ORPHA:93296 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Downslanted palpebral fissures, Vaginal hernia, Hypertrophic cardiomyopathy, Cataract, Optic disc... |
ORPHA:3173 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Bicuspid aortic valve, Long palpebral fissure, Ptosis, Iris coloboma, Microphthalmia,... |
OMIM:243310 |
Sandestig-Stefanova Syndrome |
|
High palate, Perimembranous ventricular septal defect, Epicanthus, Camptodactyly, Developmental c... |
OMIM:618804 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Disseminated molluscum contagiosum, Decreased circulating total IgM, Bronchiectasis, Ulcerative c... |
OMIM:617638 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Neonatal death, Pterygium, Pulmonary hypoplasia |
OMIM:224410 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... |
OMIM:619079 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... |
ORPHA:95430 |
Agnathia-Otocephaly Complex |
|
Downslanted palpebral fissures, Tracheomalacia, Pulmonary hypoplasia, Respiratory distress |
OMIM:202650 |
Renal Tubular Dysgenesis |
|
Respiratory insufficiency, Pulmonary hypoplasia |
OMIM:267430 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Short digit, Short 5th metacarpal, Clinodactyly of the 5th finger |
ORPHA:228190 |
Acrokeratoderma, Hereditary Papulotranslucent |
|